genid	pmid	organismid	tissue	diagnosis	familycontrol	platform	method	description	disease	class
1	10441206	9606	Blood	NA	Case-control based	NA	Genotyping	The intragenic CNR1 polymorphism 1359(G/A) should be useful for association studies in neuro psychiatric disorders which may be related to anandamide metabolism disturbances.	Obsessive Compulsive Disorder	Genome
2	10793323	9606	Blood	NA	Case-control based	NA	Genotyping//Meta-analysis	The genotypic and allelic distribution of all polymorphisms tested did not show statistically significant differences between patients and controls. Our results suggest that these polymorphisms do not play a major role in the genetic predisposition to OCD, although a minor contribution cannot be ruled out.	Obsessive Compulsive Disorder	Genome
3	11353450	9606	Blood	NA	Case-control based	NA	Genotyping	Finally, we analyzed a sample of 51 OCD trios. Haplotype-based haplotype relative risk (HHRR) analysis of the inheritance of the MAO-A variants revealed in the female probands that 14 out of 19 transmitted the allele 1, providing significant evidence for an allelic association between OCD and MAO-A gene.	Obsessive Compulsive Disorder	Genome
4	11449391	9606	Blood	ADI-R	Family based	Microarray	Microarray	Based on these findings, we hypothesize that rare mutations occur in the WNT2 gene that significantly increase susceptibility to autism even when present in single copies, while a more common WNT2 allele (or alleles) not yet identified may exist that contributes to the disorder to a lesser degree.	Autism Spectrum Disorder	Genome
5	11525422	9606	Blood	NA	Case-control based	NA	Genotyping	The C -->T transition was not significantly associated with OCD (P=0.93) or gender (P=0.67). These findings, although limited by a small sample size, suggest that the novel polymorphism adjacent to ERE 6 in the promoter area of COMT does not play a major role in the genetic predisposition to OCD.	Obsessive Compulsive Disorder	Genome
6	11591853	9606	Blood	NA	Case-control based	Genotyping	Genotyping	In order to examine the genetic substrate of the dopamine hypothesis in restless legs syndrome, we analyzed eight genes coding for receptors and enzymes related to dopaminergic transmission, using a population of 92 patients with restless legs syndrome and 182 controls matched for ethnic background. No significant differences were found in the genotypic or allelic distributions between groups. Furthermore, no effect of the loci examined was observed with stratification using clinical parameters such as age at onset or periodic leg movements during sleep index.	Restless Legs Syndrome	Genome
7	11803451	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Analysis of haplotypes at ESR1 and ESR2 showed no significant evidence of association with AN suggesting that the variability in ESR2 alone may contribute to the genetic susceptibility to AN.	Anorexia Nervosa	Genome
8	11857573	9606	Blood	ADI-R	Family based	Microarray	Microarray	To investigate transmission disequilibrium between ATP10C and autism, a family-based association study was conducted for 14 markers in 115 autism trios. No significant transmission disequilibrium was found, suggesting ATP10C is unlikely to contribute strongly to susceptibility to autism in these families.	Autism Spectrum Disorder	Genome
9	12136060	9606	Blood	NA	Case-control based	Genotyping	Genotyping	Pertaining to the MAOA gene, females with the high activity allele had a greater risk (OR: 2.0; 95% CI: 1.06 to 3.77) of being affected with RLS than females carrying the low activity alleles.	Restless Legs Syndrome	Genome
10	12136060	9606	Blood	NA	Case-control based	Genotyping	Genotyping	No differences were observed regarding the MAOB gene in our sample.	Restless Legs Syndrome	Genome
11	12192628	9606	Blood	DSM-IV	Family based	NA	qPCR	We confirmed the previously found preferential transmission of the G861 allele to the affected subjects (z=2.262, P=0.02). No significant association was found between the polymorphism and the quantitative phenotypes considered.	Obsessive Compulsive Disorder	Genome
12	12437478	9606	Blood	NA	Family based	NA	qPCR	From the three reported family based case-control studies of HTR1B to various disorders, one provides preliminary evidence for association of G861C with obsessive compulsive disorder.	Obsessive Compulsive Disorder	Genome
13	12646666	9606	Blood	DSM-IV	Case-control based	NA	NA	Binge eating is a major phenotypic characteristic of subjects with a mutation in MC4R, a candidate gene for the control of eating behavior.	Binge Eating Disorder	Genome
14	12676915	9606	Blood	ADI-R	Family based	Microarray	Microarray	These data suggest the presence of a susceptibility mutation in linkage disequilibrium with variants in the GRM8 gene.	Autism Spectrum Disorder	Genome
15	12740597	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	TaqMan Assay	TaqMan	Statistically significant genotypic, allelic, and haplotypic association to AN in the case : control design was observed at HTR1D and OPRD1 with effect sizes for individual SNPs of 2.63 (95% CI=1.21-5.75) for HTR1D and 1.61 (95% CI=1.11-2.44) for OPRD1.	Anorexia Nervosa	Genome
16	12782962	9606	Blood	DSM-IV	Case-control based	ABI PRISM 3100	MassARRAY	The haplotype constructed from three SNPs, including rs1468412, showed a significant association with schizophrenia (P=8.30 x 10-4).	Schizophrenia	Genome
17	12851639	9606	Blood	ADI-R//ASDS	Family based	NA	Microarray	In our initial analysis of the overall data set, two SNPs in ATP10C demonstrated association (Table 4): a noncoding change in the first intron (SNP 24, P=0.03), and a synonymous substitution in the last coding exon (SNP 14, P=0.03).	Autism Spectrum Disorder	Genome
18	12858032	9606	Blood	NA	Case-control based	NA	Genotyping	There was significant correlation between genotype and minimum BMI (r2=0.056; p=0.01), indicating that the Ser23 allele has an effect on severity of illness. Our findings are consistent a role for the Ser23 allele of 5-HT2c in mediating susceptibility to and increasing severity of anorexia nervosa.	Anorexia Nervosa	Genome
19	12954984	9606	Brain	NA	Family based	NA	RT-PCR	Two sequence changes in DYX1C1, one involving the translation initiation sequence and an Elk-1 transcription factor binding site (-3G a<U+2020>’ A) and a codon (1249G a<U+2020>’ T), introducing a premature stop codon and truncating the predicted protein by 4 aa, associate alone and in combination with dyslexia. DYX1C1 encodes a 420-aa protein with three tetratricopeptide repeat (TPR) domains, thought to be protein interaction modules, but otherwise with no homology to known proteins.	Developmental Dyslexia	Genome
20	14532331	9606	Blood	DSM-IV	Family based	TaqMan SNP Genotyping Assay	TaqMan	In this study we genotyped 28 single nucleotide polymorphisms (SNPs) from 1q42 covering the three candidate genes TRAX, DISC1 and DISC2, using a study sample of 458 Finnish families ascertained for schizophrenia.	Schizophrenia	Genome
21	14569258	9606	Blood	DSM-IV//DIGS-C//FIGS-C	Case-control based	NA	qPCR	Table 3 Genotype distributions of SNPs in female subjects	Methamphetamine Use Disorder	Genome
22	14627686	9606	Blood	ADI-R//ASDS	Family based	Microarray	Microarray	Table 1 Allele and genotype frequency in 196 Autistic Genetic Resource Exchange multiplex families	Autism Spectrum Disorder	Genome
23	14699439	9606	Blood	DSM-IV-R	Case-control based	PCR-RFLP	PCR-RFLP	Our findings point towards a possible role of ERb and/or neighboring genes in the etiology of disease in bulimic patients.	Bulimia Nervosa	Genome
24	14755447	9606	Blood	ADI-R//ASDS	Family based	NA	qPCR	One hundred and ninety six multiplex autistic disorder families were tested using transmission disequilibrium test. There was a significant difference in the transmission of a promoter variant to autistic subjects (P=0.0006). Haplotype analysis also demonstrated significant difference in the transmission of TDO2 haplotypes to autistic subjects (P=0.0027).	Autism Spectrum Disorder	Genome
25	15005715	9606	Blood	DSM-IV	Case-control based	NA	qPCR	In contrast, a statistically significant difference between OCD patients and controls was observed on the genotypic distribution (chi(2)=16.7, 2df, P=0.0002) and on the allelic frequencies (chi(2)=15.8, 1df, P=0.00007) for the C516T 5HT2A gene polymorphism. The results suggest that the C516T variant of the 5HT2A gene may be one of the genetic risk factors for OCD in our sample.	Obsessive Compulsive Disorder	Genome
26	15094479	9606	Blood	NA	Case-control based	NA	Genotyping	Only the GRIK2 SNP I867, recently associated with autism, was less transmitted than expected (p<0.03), supporting a functional role for this variant. These findings suggest the need for further investigation of the role of GRIK2 in OCD.	Obsessive Compulsive Disorder	Genome
27	15103711	9606	Blood	DSM-IV	Family based	TaqMan SNP Genotyping Assay	TaqMan	Finally, marker D7S1516, contained in the inner mitochondrial membrane peptidase 2 like (IMMP2L) gene, also showed a tendency for association (genotype-wise TDT chi(2)=32.87, 21 df, P=0.048). These results may reflect the proximity of markers D7S522, D7S523, and possibly D7S1516 to a gene or regulatory region relevant to TS predisposition.	Tourette's Disorder	Genome
28	15108189	9606	Blood	NA	Case-control based	NA	Genotyping	Our results showed a trend toward significance (chi(2) McNemar=3.6, P=0.065) for TDT in patients with comorbid tics. It is an interesting finding that should be tested in a larger sample of OCD patients with tics.	Obsessive Compulsive Disorder	Genome
29	15108191	9606	Blood	ADI-R//ASDS	Family based	NA	qPCR	TABLE I. SLC6A4 Markers	Autism Spectrum Disorder	Genome
30	15108192	9606	Blood	NA	Family based	TaqMan Assay	TaqMan	We performed a family-based association study of three single nucleotide polymorphisms (SNPs) of FOXP2 in 181 Chinese Han trios using the analyses of transmission/disequilibrium test (TDT) and haplotype. We found a significant association between autistic disorder and one SNP, as well as with specific haplotypes formed by this SNP with two other SNPs we investigated.	Autism Spectrum Disorder	Genome
31	15194506	9606	Blood	DSM-IV	Case-control based	Genotyping	Genotyping	In this work, we have identified statistically significant differences in allele distributions of two markers rs3916965 (P=0.019) and rs2391191 (P=0.0010), and a highly significant association between haplotype AGAC of the G72/G30 locus (P=1.7 x 10(-4)) and schizophrenia.	Schizophrenia	Genome
32	15206000	9606	Blood	DSM-IV	Family based	NA	Genotyping	Polymorphisms of the following genes were studied: tryptophan hydroxylase 1 (rs1800532), serotonin transporter (polymorphism in the promoter region; 5-HTTLPR) and the serotonin 1 B receptor (rs6296).	Obsessive Compulsive Disorder	Genome
33	15245785	9606	Blood	DSM-IV	Case-control based	NA	NA	Patients with the AA genotype suffering from Anorexia Nervosa and Bulimia Nervosa showed higher Weight and Shape Concern (P=0.003 and P=0.010, respectively) scores and greater overall severity of the ED psychopathology (EDE total score) (P=0.012).	Anorexia Nervosa	Genome
34	15303240	9606	Blood	DSM-IIIR	Family based	TaqMan SNP Genotyping Assay	TaqMan	A complicated pattern was revealed, with the pairwise tests producing unexpectedly high LD values at the telomeric TBCD gene. In conclusion, our findings warrant the further investigation of 17q25 as a candidate susceptibility region for GTS.	Tourette's Disorder	Genome
35	15386212	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Table 1 Allele-Based and Genotype-Based Association with Schizophrenia, Schizoaffective Disorder, and Bipolar Disorder, Showing the Celera SNP and dbSNP Identifiers for Each Genotyping Marker	Bipolar Disorder	Genome
36	15386212	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Four markersa€”rs6675281 (which also shows allelic association), hCV1650713, rs999710, and hCV1650723a€”show genotypic association with schizoaffective disorder.	Schizophrenia	Genome
37	15386212	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Five markersa€”rs2812393,rs1322784, rs1322783, rs2255340, and rs2738864a€”show significant allelic association with schizophrenia (P=.013, .047, .006, and .005, respectively).	Schizophrenia	Genome
38	15386212	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Four markersa€”rs6675281 (which also shows allelic association), hCV1650713, rs999710, and hCV1650723a€”show genotypic association with schizoaffective disorder.	Schizophrenia	Genome
39	15389768	9606	Blood	ADI-R//ASDS	Family based	TaqMan Assay	TaqMan	Six markers individually, across GABRB3 and GABRA5, and several haplotypes inclusive of those markers, demonstrated nominally significant association.	Autism Spectrum Disorder	Genome
40	15685626	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	TABLE I. Transmission Disequilibrium Test (including STDT) for the Five Polymorphisms in the GABBR1 Gene With the Diagnosis of OCD as the Affection Trait	Obsessive Compulsive Disorder	Genome
41	15717286	9606	Blood//Buccal swabs	NA	Case-control based	SNaPshot	SNaPshot	Case-control data analyses with the use of a stepwise procedure revealed three SNPs that account for the association observed: rs2793422 in MRS2L and rs4504469 and rs6935076 in KIAA0319 (P=.00002).	Developmental Dyslexia	Genome
42	15719398	9606	Blood	DSM-IV	Case-control based	NA	RT-PCR	In the second stage of the analysis we analyzed the six SNPs identified by the chi-square comparisons by individual genotyping of DNA samples. These data confirmed the nonsignificance by MRM of three negative markers and trends for association with rs3785157 (P=0.04)	Attention-Deficit/Hyperactivity Disorder	Genome
43	15830322	9606	Blood//Buccal swabs//Cell lines	ADI-R//ASDS	Case-control based	Sequenom MassARRAY	MassARRAY	Within these genes, 12 single-nucleotide polymorphisms (SNPs) were subsequently genotyped in 91 autism trios (one affected individual and two unaffected parents), and the association was replicated within GRIN2A (Fisher's exact test, P<.0001). Logistic regression analysis of SNP data across GRIN2A and ABAT showed a trend toward haplotypic differences between cases and controls.	Autism Spectrum Disorder	Genome
44	15830322	9606	Blood//Buccal swabs//Cell lines	ADI-R//ASDS	Case-control based	Sequenom MassARRAY	MassARRAY	Table 5 Association Analysis of SNP Genotyping Data for Multiplex Families and Singleton Families	Autism Spectrum Disorder	Genome
45	15939883	9606	Blood	DSM-IV	Family based	TaqMan SNP Genotyping Assay	TaqMan	A three-SNP haplotype [hCV219779 (C)-rs821597 (G)-rs821616 (A)] spanning 83 kb of the gene was associated with schizophrenia in a family-based sample (P=0.002).	Schizophrenia	Genome
46	15982448	9606	Blood	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	Our results indicate that AKT1 may play a possible role in the development of Meth-use disorder.	Methamphetamine Use Disorder	Genome
47	16027742	9606	Blood	NA	Family based	Microarray//SNPlex	Microarray//SNPlex	Overall, our data provide evidence that the PRKCB1 gene on chromosome 16p may be involved in the etiology of autism.(Table 2)	Autism Spectrum Disorder	Genome
48	16044170	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Genetic association study revealed the association of single nucleotide polymorphism (SNP)1 (rs10008257) with bipolar disorder. In an independent sample set, SNP2 (rs2433320) close to SNP1 was associated with bipolar disorder.	Bipolar Disorder	Genome
49	16077734	9606	Blood	ICD-10//DSM-IV	Family based	TaqMan Assay	TaqMan	Family-based association analysis in 100 families with autism spectrum disorders yielded only modest associations at NLGN1 (rs1488545, P=0.002), NLGN3 (DXS7132, P=0.014), and NLGN4 (DXS996, P=0.031).	Autism Spectrum Disorder	Genome
50	16080114	9606	Blood	DSM-IV//ADI-R	Family based	TaqMan Assay	TaqMan	The geno-PDT found significant genotypic association for HCV8262334 (in GABRA2), RS1912960 and RS2280073 (in GABRA4), and RS2617503 and RS12187676 (in GABRB2).	Autism Spectrum Disorder	Genome
51	16088329	9606	Blood	DSM-IV	Family based	Genotyping//RT-PCR	Genotyping//RT-PCR	Previously, we reported association of SNAP25 and ADHD using two polymorphisms. To further investigate this gene, we screened the exons for DNA variation and genotyped ten additional polymorphisms in an expanded sample of families from Toronto and a second sample of families collected in Irvine, CA. Significant results were observed in the Toronto sample for four markers, although not in the Irvine sample. The paper discusses the possible influence of the selection criteria on these differential results. The Irvine sample selected subjects that met the DSM-IV combined subtype diagnosis, whereas the Toronto sample included all subtypes.	Attention-Deficit/Hyperactivity Disorder	Genome
52	16088329	9606	Blood	DSM-IV	Family based	TaqMan//ABI 7900	TaqMan//RT-PCR	Our findings continue to support SNAP25 in the susceptibility to ADHD.	Attention-Deficit/Hyperactivity Disorder	Genome
53	16146581	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	In this first study of TPH2 in OCD, analysis of the SNPs, rs4570625 and rs4565946, revealed a significant preferential transmission of haplotype G-C to children and adolescents with OCD.	Obsessive Compulsive Disorder	Genome
54	16194726	9606	Blood	DSM-IV	Case-control based	NA	qPCR	The genotype proportions of Taq I DRD2 and DRD2 (H313H) polymorphisms in the two groups were significantly different (P<0.01 for both). The odds ratio for developing Tourette syndrome in individuals with the Taq I DRD2 A1 homozygote was 2.253 (95% confidence interval, 1.124-4.517) compared with individuals with the Taq I DRD2 A2 homozygote. The odds ratio for developing Tourette syndrome in individuals with the DRD2 (H313H) C homozygote was 2.96 (95% confidence interval, 1.398-6.269) compared with individuals with DRD2 (H313H) T homozygote.	Tourette's Disorder	Genome
55	16224024	9606	Blood	DSM-IV//SCID-CV	Case-control based	SNP Array	SNP-array	In contrast, when assessing the OCD sample, a statistically significant association was found for rs28521337 under a recessive model(unadjusted P=0.020; OR, 0.55; 95% CI, 0.33-0.93; Table 2), although the significance was lost after Bonferroni correction (P<0.01; two independent SNPs and 2.5 effective tests).	Obsessive Compulsive Disorder	Genome
56	16224024	9606	Blood	DSM-IV//SCID-CV	Case-control based	SNP Array	SNP-array	We have also identified two new rare variants in the 30UTR of NTRK3, ss102661458 and ss102661460, each present only in one chromosome of a patient with PD. The ss102661458 variant is located in a functional target site for miR-765, and the ss102661460 in functional target sites for two miRNAs, miR-509 and miR-128, the latter being a brain-enriched miRNA involved in neuronal differentiation and synaptic processing.	Panic Disorder	Genome
57	16224024	9606	Blood	DSM-IV//SCID-CV	Case-control based	SNP Array	SNP-array	In addition to this frameshift mutation, the identical noncoding sequence variant (var321) was identified in two apparently unrelated individuals with TS and obsessive-compulsive (OC) symptoms. Wild-type SLITRK1, but not the frameshift mutant, enhanced dendritic growth in primary neuronal cultures. Collectively, these findings support the association of rare SLITRK1 sequence variants with TS.	Tourette's Disorder	Genome
58	16240163	9606	Brain	NA	Case-control based	NA	qPCR	Genomic DNA was obtained from the same specimens. Genotypes of the rs41313475 (-8396G/C) and rs11178997 (-473T/A) promoter polymorphisms were determined by PCR. The -8396C/T polymorphism was detected by SmaI restriction enzyme digestion followed by electrophoresis;the -437A/T polymorphism was detected by automated methods.	Bipolar Disorder	Genome
59	16254601	9606	Cell lines(lymphocyte)	WISC-R	Case report	NA	RT-PCR	We conclude that dyslexia may be caused by partial haplo-insufficiency for ROBO1 in rare families. Thus, our data suggest that a slight disturbance in neuronal axon crossing across the midline between brain hemispheres, dendrite guidance, or another function of ROBO1 may manifest as a specific reading disability in humans.	Developmental Dyslexia	Genome
60	16311013	9606	Blood	ADI-R	Family based	High-throughput genotyping assays	High-throughput genotyping assays	Table 3. TDT and TDT-AE analyses of the SNPs in the Reelin gene using broad criteria for diagnosis of autism	Autism Spectrum Disorder	Genome
61	16380905	9606	Blood	DSM-IV	Family based	Illumina BeadArray	SNP-array	Using single-SNP and haplotype-based transmission/disequilibrium tests, we ranked genes on the basis of strength of association (P<.01). Six genes (DAO, GRM3, GRM4, GRIN2B, IL2RB, and TUBA8) met this criterion for bipolar I disorder; only DAO has been previously associated with bipolar disorder. Six genes (RGS4, SCA1, GRM4, DPYSL2, NOS1, and GRID1) met this criterion for schizophrenia or schizoaffective disorder; five replicate previous associations, and one, GRID1, shows a novel association with schizophrenia. In addition, six genes (DPYSL2, DTNBP1, G30/G72, GRID1, GRM4, and NOS1) showed overlapping suggestive evidence of association in both disorders.	Bipolar I Disorder	Genome
62	16380905	9606	Blood	DSM-IV	Family based	Illumina BeadArray	SNP-array	Using single-SNP and haplotype-based transmission/disequilibrium tests, we ranked genes on the basis of strength of association (P<.01). Six genes (DAO, GRM3, GRM4, GRIN2B, IL2RB, and TUBA8) met this criterion for bipolar I disorder; only DAO has been previously associated with bipolar disorder. Six genes (RGS4, SCA1, GRM4, DPYSL2, NOS1, and GRID1) met this criterion for schizophrenia or schizoaffective disorder; five replicate previous associations, and one, GRID1, shows a novel association with schizophrenia. In addition, six genes (DPYSL2, DTNBP1, G30/G72, GRID1, GRM4, and NOS1) showed overlapping suggestive evidence of association in both disorders.	Schizophrenia	Genome
63	16402135	9606	Blood	NA	Case-control based	NA	qPCR	Statistically significant evidence for association was initially observed for SNP rs1298865, located towards the 30-end of the FAT gene.	Bipolar Disorder	Genome
64	16528748	9606	Blood	DSM-IIIR	Family based	SNP Array	SNP-array	Suggestive evidence for association was found in the gene ARNTL for an undertransmitted single haplotype comprised of the intronic markers 4 (rs3789327) and 5 (rs2278749) as part of the two-marker window analysis with settings 2 (PG=0.02597) and 3 (PG=0.02498), respectively.	Bipolar Disorder	Genome
65	16718280	9606	Buccal swabs	DSM-IIIR	Case-control based	PCR	PCR	Table 2 GAD1 individual marker association results for stage 1 (N=188 cases, 188 controls)	Major Depressive Disorder	Genome
66	16718280	9606	Buccal swabs	DSM-IIIR	Case-control based	PCR	PCR	Table 7 lists the genotype and allele frequencies and results of w2 association tests for the 14 GAD2 markers genotyped in stage 1. Only marker 5 met the stage 1 threshold criteria of allelic P-value<0.1, but this association did not replicate in stage 2.	Major Depressive Disorder	Genome
67	16770606	9606	Blood	DSM-IV//CARS	Case-control based	Taqman allelic discrimination assays	TaqMan	Additional significant SNPs were identified in GABRA4 as well, rs17599165 (p=0.0015) and rs17599416 (p=0.0040).	Autism Spectrum Disorder	Genome
68	16770606	9606	Blood	DSM-IV//CARS	Case-control based	Taqman allelic discrimination assays	TaqMan	In the African-American dataset, rs2280073 (p=0.0287), identified in the smaller African-American dataset above, and rs16859788 (p=0.0253), were found to be associated with the allele based test. Genotypic association was also identified in rs16859788 (p=0.0412).	Autism Spectrum Disorder	Genome
69	16773125	9606	Blood	DSM-IV	Family based	Sequenom MassARRAY	MassARRAY	Table 1 Single SNP association results for the high-density region underneath the linkage peak (20 SNPs) on chromosome 6q, from 135.6 to 136.2 Mb in the TKT sample	Schizophrenia	Genome
70	16806108	9606	Blood	DSM-IV	Case-control based	NA	SBCE	Table 2. Details of Markers Selected within the OPRD1 and HTR1D Genes	Anorexia Nervosa	Genome
71	16840569	9606	Blood	DSM-IV 	Case-control based	aCGH//FISH//Genotyping//Microarray	aCGH//FISH//Genotyping//Microarray	Table 2. Patients with possibly pathogenic chromosomal anomalies	Autism Spectrum Disorder	Genome
72	16840569	9606	Blood	DSM-IV	Case-control based	ABI 3130	aCGH//FISH//Genotyping//Microarray	Table 2. Patients with possibly pathogenic chromosomal anomalies	Autism Spectrum Disorder	Genome
73	16868570	9606	Blood	NA	Family based	NA	Genotyping	The single marker association analysis for SNPs on GABRB3 using the programme WHAP (http://www.broad.mit.edu/personal/shaun/whap) revealedthat adjacent markers 5 (rs4906683) and 6 (rs1897356) were significant.	Autism Spectrum Disorder	Genome
74	16910371	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	This investigation provides preliminary evidence for the involvement of 5-HT2A in the molecular aetiology of TTM and supports the need for further replication in a larger dataset. The present data are consistent with previous findings that 5-HT2A plays a role in mediating impulsedyscontrol.	Obsessive Compulsive Disorder	Genome
75	16910371	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Statistically significant results were obtained when the 5-HT2A T102C genotype and allele frequencies were compared between the TTM and control groups (p=0.006 and p=0.007 [OR=2.0, 95% CI: 1.3-3.3], respectively).	Trichotillomania	Genome
76	16917939	9606	Blood	DSM-IV//CARS	Case-control based	ABI Assays	MassARRAY	In the univariate analysis, there were no significant differences in allele frequency or genotype distributions at the p<0.05 level between autistic cases and unaffected controls for MTHFR 677C>T, MTHFR 1298A>C, GST T1 null, GCP 156C>T, or MTRR 66A>G.	Autism Spectrum Disorder	Genome
77	16921495	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	TABLE I. Location, Type, Chromosomal Position, and Minor Allele Frequency (MAF) of SNPs Analyzed	Bulimia Nervosa	Genome
78	16924267	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Significant single-marker associations were observed for two BRD1 SNPs and D22S1169 (Table 2).	Bipolar Disorder	Genome
79	16936705	9606	Brain	DSM-IV	Case-control based	NA	qPCR	Polymorphisms in the promoter region (rs988713: p=0.005, df=1; OR=1.31; 95% CI: 1.09 -1.59) and intron 8 (rs2279709: p=0.039, df=1; OR=0.84; 95% CI: 0.71 - 0.99) were also associated with disease.	Bipolar Disorder	Genome
80	16936705	9606	Brain	DSM-IV	Case-control based	NA	qPCR	All cases and controls were of European descent. Allele frequencies differed significantly for the potential functional polymorphism Thr136Ser between BPD patients and controls (p=0.003; df=1; OR=1.34; 95% CI: 1.11 - 1.62)	Bipolar Disorder	Genome
81	16958027	9606	Blood	NA	Family based	NA	Genotyping	In particular, we failed to replicate the association between autism and variants of the TPH2 gene, rs4341581 (TRANSMIT P=1; PDT P=0.323; FBAT P=0.446) and rs11179000 (TRANSMIT P=0.174; PDT P=0.293; FBAT P=0.374).	Autism Spectrum Disorder	Genome
82	17010153	9606	Blood	DSM-IV//PICS-IV//TTI-IV	Family based	ABI 7900HT//TaqMan	ABI 7900HT//TaqMan	Here, we tested for association of GRIN2B variants with ADHD, by genotyping nine single nucleotide polymorphisms (SNPs) in 205 nuclear families identified through probands with ADHD. Transmission of alleles from heterozygous parents to affected offspring was examined using the transmission/disequilibrium test. Quantitative trait analyses for the ADHD symptom dimensions [inattentive (IA) and hyperactive/impulsive (HI)] and cognitive measures of verbal working memory and verbal short-term memory were performed using the fbat program. Three SNPs showed significantly biased transmission (P < 0.05), with the strongest evidence of association found for rs2,284,411 (chi(2)= 7.903, 1 degree of freedom, P= 0.005).	Attention-Deficit/Hyperactivity Disorder	Genome
83	17010153	9606	Blood	DSM-IV	Family based	TaqMan 5a€2 nuclease assay	TaqMan	Significant TDT results (P<0.05) or a trend toward significance was observed for four SNPs located in intron 3, rs2268115, rs2300256, rs2284411 and rs2284407.	Attention-Deficit/Hyperactivity Disorder	Genome
84	17067345	9606	Blood	DSM-IIIR	Case-control based	Sequenom MassARRAY	MassARRAY	Between alcoholic subjects and controls, significant differences were found in genotype distributions of SNP1 (p=0.000), SNP2 (p=0.015), SNP4 ( p=0.015), SNP5 (p=0.031), SNP6( p=0.012), and SNP8 (p=0.004) and in allele distributions of SNP1 (p=0.001), SNP2( p=0.009), and SNP8 ( p=0.009). (Table 1. Valid SNPs at the GAD1 and GAD2 Genes and Alcohol Status)	Alcohol Use Disorder	Genome
85	17106428	9606	Blood//Cell lines(Transformed cells)	ADI-R	Family based	NA	Genotyping	However, we observed a significant overtransmission (21 transmitted vs 6 nontransmitted, chi2=12.054, P=0.0005) of the haplotype G-G-A-G-C-A of rs722519-rs1269622-rs405945-rs6958498-rs401433-rs439587 in the severe obsessive-compulsive behavior subset, likely driven by the G-C haplotype of rs6958498-rs401433, which itself showed significant overtransmission (31 transmitted vs 13 nontransmitted, chi2=8.844, P=0.003).	Obsessive Compulsive Disorder	Genome
86	17130882	9606	Blood	DSM-IV	Family based	TaqMan SNP Genotyping Assay	TaqMan	Table 1 Association between ErbB4 SNPs/haplotypes and affection status/cognitive phenotypes in independent family-based samples and an independent sample of healthy controls	Schizophrenia	Genome
87	17130882	9606	Blood	DSM-IV	Family based	TaqMan SNP Genotyping Assay	TaqMan	Family-based affection status analyses in the SS revealed two 3-SNP haplotypes significantly positively associated with schizophrenia status: rs3748962-rs2289086-rs3791709 (G-A-A; global P=0.020, haplotype P=0.020) and rs7598440-rs839541-rs839523 (G-A-A; global P=0.042, haplotype P=0.032) (Table 1).	Schizophrenia	Genome
88	17200667	9606	Blood	DSM-IIIR	Case-control based	TaqMan Genotyping Assay	TaqMan	Of note was the fact that the three significant SNPs (4, 5, and 30) were represented more frequently in the AD group than in the controls, suggesting that these SNPs were associated with AD in the Finnish population.	Alcohol Use Disorder	Genome
89	17264841	9606	Blood	DSM-IV//ADI-R//ADOS-G	Case-control based	NA	Genotyping	Analysis of all possible combinations of two-marker haplotypes for each gene showed that in npas2 40 out of the 136 possible two-marker combinations were significant at the P<0.05 level, with the best result between markers rs1811399 and rs2117714, P=0.001.	Autism Spectrum Disorder	Genome
90	17264841	9606	Blood	DSM-IV//ADI-R//ADOS-G	Case-control based	NA	Genotyping	Haplotype analysis within per1 gave a single significant result: a global P=0.027 for the markers rs2253820-rs885747. No two-marker haplotype was significant in any of the other genes, despite the large number of tests performed.	Autism Spectrum Disorder	Genome
91	17264841	9606	Blood	DSM-IV//ADI-R//ADOS-G	Case-control based	NA	Genotyping	In per1 two intronic SNPs gave significant results: rs885747 with a P=0.014 and rs6416892 with P=0.035.	Autism Spectrum Disorder	Genome
92	17322880	9606	Blood	ADI-R//ADOS	Family based	SNP-array	SNP-array	Supplementary Table 2. List of 254 CNVs in Affected Individuals.	Autism Spectrum Disorder	Genome
93	17322880	9606	Blood	ADI-R//ADOS	Family based	Affymetrix 10K array	SNP-array	Supplementary Table 2. List of 254 CNVs in Affected Individuals.	Autism Spectrum Disorder	Genome
94	17325713	9606	Blood	DSM-IV	Case-control based	MassARRAY	MassARRAY	Previously, several studies reported association between the synaptosomal-associated protein 25?kDa (SNAP-25) and attention deficit hyperactivity disorder (ADHD). Initially, Barr et al.1 identified two single-nucleotide polymorphisms (SNPs) (MnlI, DdeI) located four bases apart in the 3′ UTR of SNAP-25 and found significant overtransmission of the TC haplotype (P=0.03).	Attention-Deficit/Hyperactivity Disorder	Genome
95	17325713	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	This study provides significant evidence for association of the MnlI polymorphism and supports the result from a recent pooled analysis that reported a significant association of this SNP with ADHD.	Attention-Deficit/Hyperactivity Disorder	Genome
96	17340203	9606	Blood	NA	Family based	NA	Genotyping	Our findings suggest that the ADA G22A polymorphism plays a minimal role in susceptibility to autism in North American families.	Autism Spectrum Disorder	Genome
97	17363630	9606	Blood//Cell lines(EBV immortalized B cells) 		Family based	aCGH	aCGH	Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized. (Table 1 Spontaneous CNVs detected by ROMA)	Autism Spectrum Disorder	Genome
98	17363630	9606	Blood//Cell lines(EBV immortalized B cells)	NA	Family based	aCGH	aCGH	Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized. (Table 1 Spontaneous CNVs detected by ROMA)	Autism Spectrum Disorder	Genome
99	17373729	9606	Blood	DSM-IV	Case-control based	NA	qPCR	The genotype and allele frequencies relative to the 36G >T SNP on human KOR gene (hOPRK1) are shown in Table I.Both heroin dependent and normal control populations showed a good fit to Hardy-Weinberg equilibrium with respect to this polymorphism (w2 =0.444, P=0.801 and w2=0.084, P=0.772, respectively) suggesting the suitability of the association study using these population samples.	Opioid Use Disorder	Genome
100	17375136	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Specifically, the total number of comorbid anxiety disorders was significantly associated with biallelic 5HTTLPR (F=3.33,P=0.037), rs25531 (F=8.96, P=0.003), and the combined 5-HTTLPR and rs25531 genotype (F=3.62, P=0.007).	Anxiety Disorder	Genome
101	17376794	9606	Blood	NA	Case-control based	NA	qPCR	Table 2. The 15 SNPs displaying significant transmission bias (empirical P-value ,0.05) and evidence of enhancement of transmission bias by hypergeometric distribution analysis (x2 P-value ,0.05)	Autism Spectrum Disorder	Genome
102	17417062	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Since MTHFD and MTR genes are located in 14q24 and 1q43 loci, our findings support the significance of chromosomes 14q and 1q in etiopathogenesis of bipolar disorder and schizophrenia.	Bipolar Disorder	Genome
103	17427189	9606	Blood	NA	Case-control based	PCR-RFLP	PCR-RFLP	We found significant genetic association between autism and two of the SNPs of the NRP2 gene (rs849578: P=0.017, rs849563: P=0.027), as well as specific haplotypes, especially those formed by rs849563.	Autism Spectrum Disorder	Genome
104	17428563	9606	Blood	NA	Family based	NA	qPCR	We found preferential transmission of the C allele at the rs3213607 (P<0.001) of GRIK2 in ASD and haplotype analysis revealed that one haplotype demonstrated a significant association (P=0.023).	Autism Spectrum Disorder	Genome
105	17544380	9606	Blood	DSM-IV	Family based	NA	Genotyping	The results provide suggestive evidence for linkage on chromosome 10p15. Evidence for association was found with three markers in the 3a€2 end of ADAR3 in the linkage region.	Obsessive Compulsive Disorder	Genome
106	17544380	9606	Blood	DSM-IV	Family based	NA	Genotyping	Table 1 Transmission Disequilibrium Test Results for 35 SNP Markers in the 10p15 region in 26 Pedigrees with Early-Onset Obsessive-Compulsive Disorder	Obsessive Compulsive Disorder	Genome
107	17579608	9606	Blood	ICD-10//DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	In the AS families, however, some modest evidence for linkage emerged when only affected AS males were considered with both rs1000731 (Lod=1.23) and rs821616 (Lod=1.18) with a dominant mode of inheritance (dominant pseudomarker) (Table 1).	Autism Spectrum Disorder	Genome
108	17579608	9606	Blood	ICD-10//DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	In addition, evidence for association to Asperger syndrome was observed with an intragenic single nucleotide polymorphism (SNP) of DISC1 (rs1322784; P=0.0058), as well as with a three-SNP haplotype (P=0.0013) overlapping the HEP3 haplotype, that was previously observed to associate with schizophrenia in Finnish families.	Autism Spectrum Disorder	Genome
109	17592484	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Role of the novel tryptophan hydroxylase-2 gene in Tourette syndrome.	Tourette's Disorder	Genome
110	17651942	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	However, 2 of the 9 tested SNPs,rs778294 and rs947267, were found to be associated with the risk of schizophrenia after correction for multiple testing (Pcor=0.03 and Pcor=0.04, respectively). The rs778294 SNP, taken singly, had not been found to be associated with schizophrenia in previous studies, and the second SNP, rs947267, showed an opposite direction of genetic effect on schizophrenia risk here than in a previous study. Our association results were not consistent with those found in other populations, and, thus could be chance findings.	Schizophrenia	Genome
111	17693006	9606	Blood	DSM-IV	Case-control based	Genotyping	Genotyping	Six SLC25A12 polymorphisms were studied in a sample population of 253 people with schizophrenia and 216 normal controls. Significant linkage disequilibrium was obtained among the six polymorphisms. However, neither single marker nor haplotype analysis revealed an association between variants at the SLC25A12 locus and schizophrenia, suggesting that it is unlikely that the SLC25A12 polymorphisms investigated play a substantial role in conferring susceptibility to schizophrenia in the Chinese population.(Table 1)	Schizophrenia	Genome
112	17712621	9606	Blood	DSM-IV//CARS//ADI-R	Family based	NA	qPCR	Therefore in the present study, we have performed genetic analysis of three markers of GluR6 (SNP1: rs2227281, SNP2: rs2227283, SNP3: rs2235076) for possible association with autism through population, and family-based (TDT and HHRR) approaches.	Autism Spectrum Disorder	Genome
113	17849003	9606	Blood	ICD-10//DSM-IV	Case-control based	Northern blotting//qRT-PCR	Northern blotting//qRT-PCR	Two SNPs rs17578796 and rs1700 in hsa-mir-206 (mir-206) and hsa-mit-198 (mir-198) showed nominal significant allelic association to schizophrenia in the Danish and Norwegian sample respectively (P=0.0021 & p=0.038), of which only rs17578796 was significant in the joint sample.	Schizophrenia	Genome
114	17893705	9606	Blood	DSM-IV	Family based	NA	qPCR	In particular, a five-locus haplotype block (rs237897-rs13316193-rs237889-rs2254298-rs2268494) was significantly associated with ASD (nominal global P=0.000019; adjusted global P=0.009) and a single haplotype (carried by 7% of the population) within that block showed highly significant association (P=0.00005).	Autism Spectrum Disorder	Genome
115	17894418	9606	Blood	DSM-IV//SCID-CV	Case-control based	NA	qPCR	TABLE I. SLC1A1 Single-Marker Characteristics and Associations in OCD Using FBAT	Obsessive Compulsive Disorder	Genome
116	17897745	9606	Blood	NA	Case-control based	NA	qPCR	We previously described an association between a subgroup of French autistic patients and an allele of a non-synonymous single nucleotide polymorphism (nsSNP: OMGP62 G>A or rs11080149) in the gene coding for the oligodendrocyte and myelin glycoprotein (OMG), located at 7Mb from the marker D17S250, linked to autism in two independent genome scan studies.	Autism Spectrum Disorder	Genome
117	17948901	9606	Blood	DSM-IV	Case-control based	NA	qPCR	However, when haplotypes were constructed with multiple markers, a number of haplotypes including three two-marker haplotypes, nine three-marker haplotypes, one four-marker haplotype, and one six-marker haplotype, all of which contain the major allele A of rs3824068, displayed significantly associated with autism.	Autism Spectrum Disorder	Genome
118	17949513	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Table 2. Allele distribution of eight SNPs in 22q11.2DS diagnostic groups	Obsessive Compulsive Disorder	Genome
119	18053270	9606	Blood	ADI-R//ASDS	Case-control based	SNPlex//TaqMan	SNPlex//TaqMan	Our data suggest that PITX1, a key regulator of hormones within the pituitary-hypothalamic axis, may be implicated in the etiology of autism.	Autism Spectrum Disorder	Genome
120	18055562	9606	Blood	DSM-IV	Case-control based	NA	qPCR	In light of the small effect size of rs25532 and the 5-HTTLPR in general, we then investigated two additional SNPs, rs2020933 and rs16965628, that were recently shown to predict allelic gene expression imbalance of SLC6A4 in lymphoblastoid cell lines (19). As with rs25532, these SNPs individually were not (rs2020933) or only moderately (rs16965628, P , 0.04) significantly associated with OCD.	Obsessive Compulsive Disorder	Genome
121	18163386	9606	Blood	DSM-IV	Case-control based	SNP array//Meta-analysis	SNP-array//Meta-analysis	A statistically significant difference was found in genotype distribution and allele frequencies in SNP Ala72Ser of COMT gene between H-SCZ and NH-SCZ group.	Schizophrenia	Genome
122	18179893	9606	Brain	ICD-10//DSM-IV	Case-control based	Microarray	Microarray	Table 1 Association Results for a Block-Based Analysis of the 7q35-36 Language QTL Region	Autism Spectrum Disorder	Genome
123	18186074	9606	Blood	NA	Case-control based	NA	NA	As a result, a statistically significant difference after correction for multiple testing was observed between the patients and controls in the genotypic distribution of SNP rs7164989 (SNP8 in this study) located in SNRPN, whose promoter corresponds to the IC (P=0.018, corrected for multiple testing).	Autism Spectrum Disorder	Genome
124	18195715	9606	Blood	NA	Case-control based	Affymetrix 10K 2.0 GeneChips	SNP-array	The 200 variants with the smallest P-values are listed in Supplementary Table S1 (autosomal variants analyzed in the total cohort and X chromosomal variants analyzed separately in the male and female groups).	Heroin Addiction	Genome
125	18195715	9606	Blood	NA	Case-control based	Affymetrix 10K 2.0 GeneChips	SNP-array	The three variants exhibiting the strongest association with heroin addiction by genotype frequency were rs1714984, located in an intron of the gene for the transcription factor myocardin (P=0.000022), rs965972 (P=0.000080) and rs1867898 (P=0.000284).	Heroin Addiction	Genome
126	18195715	9606	Blood	NA	Case-control based	Affymetrix 10K 2.0 GeneChips	SNP-array	The other variant, rs1986513, was also found to be significantly associated with heroin addiction with a point-wise P-value=0.0000389 and an experimentwise q-value=0.187.	Heroin Addiction	Genome
127	18205172	9606	Blood	NA	Case-control based	NA	NA	QTDT analyses showed associations of the rs265981-C, rs4532-A, rs686-T alleles, and the C-A-T haplotype with more severe problems in social interaction, greater difficulties with nonverbal communication and increased stereotypies compared to individuals with other haplotypes.	Autism Spectrum Disorder	Genome
128	18207134	9606	Blood	ADI-R//ASDS	Family based	TaqMan Assay	TaqMan	Specifically, the strongest P-values implicated PRLR and PRL genes as associated with the multivariate phenotypes ADI-Group (P=.000249 for PRLRa€<U+2122>s rs35614689 and P=.000085 for PRLa€<U+2122>s rs1341239) and Communication Skills (P=.000005 for PRLRa€<U+2122>s rs7727306).	Autism Spectrum Disorder	Genome
129	18228528	9606	Blood	DSM-IIIR	Case-control based	NA	NA	A multi-locus interaction between rs6442925 in the 5a€2 upstream of BHLHB2, rs1534891 in CSNK1E, and rs534654 near the 3a€2 end of the CLOCK gene, however, is significantly associated with BP (p=0.00000172). It remains significant after correcting for multiple testing using the False Discovery Rate method. Our results indicate an interaction between three circadian genes in susceptibility to bipolar disorder.	Bipolar Disorder	Genome
130	18252227	9606	Blood	ADI-R//ADOS	Family based	Microarray	Microarray	Table S3. Table of All Autism-Specific CNV Displayed in Figure 1	Autism Spectrum Disorder	Genome
131	18252227	9606	Blood	ADI-R//ADOS	Family based	Microarray	Microarray	Table S2. CNV in ASD Probands with Abnormal Karyotypes	Autism Spectrum Disorder	Genome
132	18252227	9606	Blood	ADI-R//ADOS	Family based	SNP microarray	Microarray	Table S3. Table of All Autism-Specific CNV Displayed in Figure 1	Autism Spectrum Disorder	Genome
133	18252227	9606	Blood	ADI-R//ADOS	Family based	SNP microarray	Microarray	Table S2. CNV in ASD Probands with Abnormal Karyotypes	Autism Spectrum Disorder	Genome
134	18270976	9606	Blood	NA	Case-control based	NA	NA	Four SNPs of ROBO3 (rs3923890, P=0.023; rs7925879, P=0.017; rs4606490, P=0.033; and rs3802905, P=0.049) and a single SNP of ROBO4 (rs6590109, P=0.009) showed associations with autism; the A/A genotype of rs3923890 showed lower ADI-R_A scores, which reflect social interaction.	Autism Spectrum Disorder	Genome
135	18294085	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The rs2241165 A allele was preferentially transmitted (df=1, p=0.022).	Bipolar Disorder	Genome
136	18305461	9606	Blood	DSM-IV	Case-control based	NA	qPCR	These findings provide support for an association between an ADORA2A polymorphism and self-reported anxiety after a moderate dose of caffeine. It is likely that other ADORA2A and DRD2 polymorphisms also contribute to responses to caffeine.(Table 3 Allele and Genotype Distribution of ADORA2A and DRD2 Polymorphisms for European-American (EA) Participants)	Obsessive Compulsive Disorder	Genome
137	18305461	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Subjective anxiety was measured before and at repeated times after capsules were consumed. At the 150 mg dose of caffeine, we found a significant association between caffeine-induced anxiety (Visual Analog Scales, VAS) and ADORA2A rs5751876(1976C/T), rs2298383(intron 1a) and rs4822492(3a€2-flank), and DRD2 rs1110976(intron 6).	Obsessive Compulsive Disorder	Genome
138	18305461	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Table 3 Allele and Genotype Distribution of ADORA2A and DRD2 Polymorphisms for European-American (EA) Participants	Obsessive Compulsive Disorder	Genome
139	1832466	9606	Blood	DSM-IIIR	Case-control based	NA	qPCR	These results suggest the A1 allele of the DRD2 gene is associated with a number of behavior disorders in which it may act as a modifying gene rather than as the primary etiological agent.	Tourette's Disorder	Genome
140	18332251	9606	Brain	Revised clinical diagnostic criteria for DLB	Case-control based	Genotyping//TaqMan	Genotyping//TaqMan	We observed a significantly higher heterozygote frequency for the 2 mutations in patients with PD (2.9%; P<.001) and those with DLB (3.5%; P=.045) compared with control subjects (0.4%).	Neurocognitive Disorder With Lewy Bodies	Genome
141	18348195	9606	Blood//Cell lines	NA	Family based	SNP BeadArray platform from Illumina//Custom Taqman	SNP-array	Using the transmission disequilibrium test to test for associations, we observed significant over-transmissions of rs2056202 (P=0.006) within the SLC25A12 gene, rs1807984 (P=0.007) within the STK39 gene, and rs2305586 (P=0.009) within the ITGA4 gene.	Autism Spectrum Disorder	Genome
142	18348195	9606	Blood//Cell lines	NA	Family based	SNP BeadArray platform from Illumina//Custom Taqman	SNP-array	We also found evidence for association between autism and two other SNPs (rs1517342, P=0.012 and rs971257, P=0.030) or haplotypes (P=0.003) of the STK39 gene	Autism Spectrum Disorder	Genome
143	18349090	9606	Saliva	DSM-IV	Case-control based	NA	qPCR	Although FKBP5 SNPs did not directly predict PTSD symptom outcome or interact with level of non-child abuse trauma to predict PTSD symptom severity, 4 SNPs in the FKBP5 locus significantly interacted (rs9296158, rs3800373, rs1360780, and rs9470080; minimum P=.0004) with the severity of child abuse to predict level of adult PTSD symptoms after correcting for multiple testing.	Posttraumatic Stress Disorder	Genome
144	18374305	9606	Blood	ADI-R//ADOS	Case-control based	aCGH//FISH//qPCR	aCGH//FISH//qPCR	A total of 51 CNV were confirmed in 46 ASD subjects. Three maternal interstitial duplications of 15q11-q13 known to be associated with ASD were identified. The other 48 CNV ranged in size from 189 kb to 5.5 Mb and contained from 0 to ~40 RefSeq genes. Seven CNV were de novo and 44 were inherited.(Table 2 AGRE confirmed abnormal aCGH results//Table S2: AGRE aCGH abnormal results)	Autism Spectrum Disorder	Genome
145	18374305	9606	Blood	ADI-R//ADOS	Case-control based	Human BAC CGH array	aCGH//FISH//qPCR	A total of 51 CNV were confirmed in 46 ASD subjects. Three maternal interstitial duplications of 15q11-q13 known to be associated with ASD were identified. The other 48 CNV ranged in size from 189 kb to 5.5 Mb and contained from 0 to ~40 RefSeq genes. Seven CNV were de novo and 44 were inherited.(Table 2 AGRE confirmed abnormal aCGH results//Table S2: AGRE aCGH abnormal results)	Autism Spectrum Disorder	Genome
146	18384978	9606	Blood	CIDI-SAM//DISC-IV//DIS	Case-control based	Targeted Gene Assay	SNP-array	After eliminating SNPs with poor signals and low minor allele frequencies, 60 nominally significant associations were found among the remaining 1073 SNPs in 18 of 49 candidate genes.(Table 3 Nominally significant SNPs by gene)	Antisocial Drug Dependence	Genome
147	18387137	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Patients who have the 5-HTR1A gene G allele had significantly smaller amygdala volumes than C/C genotype carriers (P=0.02).	Borderline Personality Disorder	Genome
148	18424454	9606	Blood	NA	Case-control based	TaqMan OpenArray	OpenArray	Table 1. ABCB1 single nucleotide polymorphisms (SNPs) analyzed in this study	Heroin Addiction	Genome
149	18424454	9606	Blood	NA	Case-control based	TaqMan OpenArray	OpenArray	The only genotype frequencies difference that remains significant after this correction was for SNP rs1128503 (experiment-wise P=0.0325; Table 3).	Heroin Addiction	Genome
150	18427560	9606	Blood	Others	Case-control based	Genotyping//RT-PCR	Genotyping//RT-PCR	The rs4570625 G-allele polymorphisms of the TPH2 gene have already been related to altered reactivity of the brain during perception tasks with emotional stimuli in healthy adults. Here we investigated the influence of the ADHD related risk alleles for rs4570625 and for rs11178997 on prefrontal brain function during cognitive response control in large samples of adult ADHD patients (n=124) and healthy controls (n=84). Response control was elicited with a Go-NoGo task (continuous performance test; CPT) performed during recording of an ongoing EEG. From the resulting event-related potentials in the Go- and NoGo conditions of the CPT, the NoGo-anteriorization (NGA) has been calculated as a valid neurophysiological parameter for prefrontal brain function.	Attention-Deficit/Hyperactivity Disorder	Genome
151	18427560	9606	Blood	NA	Case-control based	NA	RT-PCR	Here we investigated the influence of the ADHD related risk alleles for rs4570625 and for rs11178997 on prefrontal brain function during cognitive response control in large samples of adult ADHD patients (n=124) and healthy controls (n=84).	Attention-Deficit/Hyperactivity Disorder	Genome
152	18492799	9606	Brain//Cell lines(N18)	ADI-R	Case-control based	NA	qRT-PCR	High-resolution single-nucleotide polymorphisms (126 SNPs) genotyping across the chromosome 1q41-q42 region, followed by a MARK1 (microtubule affinity-regulating kinase 1)-tagged-SNP association study in 276 families with autism from the Autism Genetic Research Exchange, showed that several SNPs within the MARK1 gene were significantly associated with ASDs by transmission disequilibrium tests.	Autism Spectrum Disorder	Genome
153	18511947	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	Table 1 Rare de novo copy number mutations identified in this study	Schizophrenia	Genome
154	18511947	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	Table 3 Rare inherited copy number mutations affecting known genes	Schizophrenia	Genome
155	18511947	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Table 1 Rare de novo copy number mutations identified in this study	Schizophrenia	Genome
156	18511947	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Table 3 Rare inherited copy number mutations affecting known genes	Schizophrenia	Genome
157	18563708	9606	Blood	DSM-IV	Family based	TaqMan Assay	TaqMan	We found preferential transmission of the A allele of rs8068149 (P=0.039) and G allele of rs1060826 (P=0.035) of NOS-IIA in ASD and the haplotype analysis revealed that the two haplotypes had significant associations (P=0.014 and 0.031, respectively).	Autism Spectrum Disorder	Genome
158	18579107	9606	Blood	DSM-IV	Family based	TaqMan Assay	TaqMan	We found that the A allele of rs2745557 was preferentially transmitted in ASDs (p<0.01) and that the GAAA haplotype was significantly associated with ASDs (p<0.01).	Autism Spectrum Disorder	Genome
159	18593715	9606	Blood	DSM-IV	Case-control based	Illumina GoldenGate assay	SNP-array	Table 3. Single nucleotide polymorphism (SNP)-specific results for abstinence rates	Tobacco Use Disorder	Genome
160	18616610	9606	Blood	DSM-IV	Case-control based	NA	High-throughput genotyping assays	A significant association of two SNPs in the 3' downstream region of NTRK3 gene and obsessive-compulsive hoarding was identified: rs1017412 [odds ratio (OR)=2.16; P=0.001] and rs7176429 (OR=2.78; P=0.0001), although only the latter remained significant after Bonferroni correction.	Obsessive Compulsive Disorder	Genome
161	18616610	9606	Blood	DSM-IV	Case-control based	SNPlex Genotyping	SNPlex	A significant association of two SNPs in the 3' downstream region of NTRK3 gene and obsessive-compulsive hoarding was identified: rs1017412 [odds ratio (OR)=2.16; P=0.001] and rs7176429 (OR=2.78; P=0.0001), although only the latter remained significant after Bonferroni correction.	Hoarding Disorder	Genome
162	18639233	9606	Blood	DSM-IV//ICD-10	Case-control based	Sequenom MassARRAY	MassARRAY	Table 3 SNPs with p Value a‰¤ .01 in the LRT for Allelic Association	Anxiety Disorder	Genome
163	18639233	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Table 3 SNPs with p Value a‰¤ .01 in the LRT for Allelic Association	Anxiety Disorder	Genome
164	18639610	9606	Blood	DSM-IV	Case-control based	NA	High-throughput genotyping assays	We performed an association study of 52 tag single nucleotide polymorphisms (tagSNPs) covering the whole NTRK3 gene in a sample comprising 120 OCD patients and 342 controls. Single nucleotide polymorphism association and haplotype analysis were performed.	Obsessive Compulsive Disorder	Genome
165	18664314	9606	Blood	DSM-IV	Family based	TaqMan Assay	TaqMan	Table 1. Allele frequencies of 18 SNPs of the NRCAM gene in autistic patients and controls	Autism Spectrum Disorder	Genome
166	18664314	9606	Blood	DSM-IV	Family based	TaqMan Assay	TaqMan	Seven SNPs in the NRCAM gene were significantly associated with autism, among which rs2300045 indicated the most prominent result (p=0.0009 uncorrected, p=0.017 corrected).	Autism Spectrum Disorder	Genome
167	18696005	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Our results suggest that the examined region of Epsin 4 does not have a major influence on susceptibility to schizophrenia in Japanese.	Schizophrenia	Genome
168	18698576	9606	Blood	DSM-IIIR//DSM-IV	Family based	ABI 7900-HT	MassARRAY	Provide the first support for the original finding indicating SLITRK1 as a susceptibility gene for GTS and indicate that further study of this gene in GTS is warranted.	Tourette's Disorder	Genome
169	18704261	9606	Blood	DSM-IV	Case-control based	ABI PRISM 7900HT	MassARRAY	Thus, our results suggest the possibility that interaction between variants in NRG1 and ERBB4 might contribute to susceptibility for schizophrenia in a Japanese population. Further investigation may be necessary to confirm our results.(Table 3)	Schizophrenia	Genome
170	18708184	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	In the independent trio samples, rs1937970-A and rs677221-G consistently showed significant under-transmission to schizophrenic offspring (unadjusted p=.003 and p=.004, respectively).	Schizophrenia	Genome
171	18711365	9606	Blood	NA	Case-control based	SNP Array	SNP-array	To identify susceptibility loci for bipolar disorder, we tested 1.8 million variants in 4,387 cases and 6,209 controls and identified a region of strong association (rs10994336, P=9.1<U+00C3>—10-9) inANK3 (ankyrin G).	Bipolar Disorder	Genome
172	18711365	9606	Blood	NA	Case-control based	SNP Array	SNP-array	We also found further support for the previously reported CACNA1C (alpha 1C subunit of the L-type voltage-gated calcium channel; combined P=7.0<U+00C3>—10-8, rs1006737).	Bipolar Disorder	Genome
173	18715757	9606	Blood	DSM-IV	Case-control based	NA	Meta-analysis	Table 1 Meta-analyses of allelic association studies for 12 schizophrenia candidate genes	Schizophrenia	Genome
174	18718982	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Single marker analysis indicated that SNP5 (rs1355095) in LOC728637 is associated with schizophrenia.	Schizophrenia	Genome
175	18718982	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	SNP4 (rs31251) in PDZ-GEF2 is associated with schizophrenia in females.	Schizophrenia	Genome
176	18726138	9606	Blood	DSM-IV	Case-control based	NA	RFLP	The SNAP-25 genotype may modulate synaptic plasticity and neurogenesis in the left hippocampus, and altered NAA/Cho ratio may be an indicator for this genetic modulation of neuronal function in the hippocampus.	Obsessive Compulsive Disorder	Genome
177	18728693	9606	Blood	ADI-R//ASDS	Case-control based	TaqMan Assay	TaqMan	Findings in a second sample of 169 MPX families not only confirmed the association at rs4519482 (P=0.034) but also showed strong allelic association of the common alleles at rs788172, rs788173 and rs813720 (Pcor=0.0003-0.04).	Autism Spectrum Disorder	Genome
178	18728693	9606	Blood	ADI-R//ASDS	Case-control based	TaqMan Assay	TaqMan	The common alleles of rs743605 and rs4519482 were significantly associated with autism (P<0.012) in the first sample of 138 MPX families, with the latter remaining significant after correction for multiple testing (Pcor=0.0046).	Autism Spectrum Disorder	Genome
179	18762858	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	NA	qPCR	Odds ratio analyses for the most significant results disclosed the A-allele as the protective variant in case of the single marker SNP 3 (rs11805657, AA-AG vs. GG effect on PDAgP sample: OR, 95% CI=0.46, 0.25-0.84) as well as of the SNP 3-4 haplotype A-A (rs11805657-rs171881,effect on PDAgP sample: OR, 95% CI=0.51, 0.23-1.16).	Panic Disorder	Genome
180	18767121	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	None of these SNPs showed association signals with schizophrenia (P values >0.108) in our sample sets.(TABLE I. Results of Japanese Case-Control Study)	Schizophrenia	Genome
181	18782849	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Table 2. Case-control association and AHI1 SNPs with ASD	Autism Spectrum Disorder	Genome
182	18804346	9606	Blood	DSM-IIIR	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Table 1 Single-locus association results from the ISHDSF grouped by gene	Schizophrenia	Genome
183	18804346	9606	Blood	DSM-IIIR	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The most significant results were observed in the SPEC2 and DTNBP1 genes. In SPEC2, both allele and genotype tests exceeded the threshold for multiple tests at rs3756295 and in DTNBP1 rs760761 exceeded the threshold for genotype test.	Schizophrenia	Genome
184	18813210	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Only one SNP, rs17101921, was nominally significant after meta-analyses across the replication samples and this was genotyped in an additional six samples from the United States/Australia, Germany, China, Japan, Israel and Sweden (n=5142 cases/6561 controls).	Schizophrenia	Genome
185	18818052	9606	Blood	ICD-10//DSM-IIIR//DSM-IV	Case-control based	SNP Array	SNP-array	Table 2 Disrupted-in-schizophrenia 1 (DISC1) single nucleotide polymorphism (SNP) allele frequencies, genotype counts and association statistics in schizophrenia patients (case) and control subjects (ctrl)	Schizophrenia	Genome
186	18818052	9606	Blood	ICD-10//DSM-IIIR//DSM-IV	Case-control based	SNP Array	SNP-array	Two out of 15 tested markers attained nominal significant association with the disease (p-value a‰¤ 0.05), namely rs3737597 and rs1322783.	Schizophrenia	Genome
187	18818052	9606	Blood	ICD-10//DSM-IIIR//DSM-IV	Case report	Illumina BeadStation 500GX//1536-plex Illumina Golden Gate assay	SNP-array	However, the minor allele of rs3737597 (frequency 2%) in the 3a€2-untranslated region (UTR), previously identified as a risk allele in Finnish families,was significantly and consistently associated with the disorder across the three samples, (pvalue corrected for multiple testing was 0.002).	Schizophrenia	Genome
188	18821566	9606	Blood	DSM-IV	Family based	Illumina Infinium HumanHap300 Duo	Illumina Infinium HumanHap300 Duo	After correcting for multiple comparisons and controlling for multiple individuals from the same family, significant associations were identified between commission errors and SNPs in the DRD2 gene (rs2075654, rs1079596), and between reaction time variability and a SNP in the NET gene (rs3785155).	Attention-Deficit/Hyperactivity Disorder	Genome
189	18821566	9606	Blood	DSM-IV	Family based	Illumina Infinium HumanHap300	SNP-array	After correcting for multiple comparisons and controlling for multiple individuals from the same family, significant associations were identified between commission errors and SNPs in the DRD2 gene (rs2075654, rs1079596), and between reaction time variability and a SNP in the NET gene (rs3785155).	Attention-Deficit/Hyperactivity Disorder	Genome
190	18832861	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	When we stratified this analysis by gender, the G allele was a risk factor only in women (OR 2.6, CI 1.1-6.0, p=0.01, statistical power 95.9%). The highest risk was found in GG homozygous women (OR 6.7, CI 1.3-32.4, p=0.01, statistical power 99.9%)	Schizophrenia	Genome
191	18848621	9606	Blood	DSM-III-R	Case-control based	SEQUENOM RealSNPTM Assay//MassExtendTM//iPlexTM assays	MassARRAY	In males, both the promoter region SNP ( 318C/T) and the 30 UTR SNP demonstrated nominally significant association with schizophrenia.	Schizophrenia	Genome
192	18936756	9606	Blood	DSM-IV	Case-control based	high-throughput BeadArray	SNP-array	Table 1 Single marker analysis of SREBF1 and SREBF2 SNPs genotyped in the German case-control sample (phase 1)	Schizophrenia	Genome
193	18938205	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	No individual SNP nor any haplotype was found to be associated with schizophrenia.These results suggest that the variants within the promoter region of QKI gene are unlikely to play a major role in susceptibility to schizophrenia in the Chinese population.	Schizophrenia	Genome
194	18940311	9606	Brain	DSM-IV-TR	Case-control based	SNP-array	SNP-array	Table S2. Rare CNVs in 54 Patients with Deficit Schizophrenia	Schizophrenia	Genome
195	18940311	9606	Brain	DSM-IV-TR	Case-control based	SNP-array	SNP-array	Table S1. Common CNVs in 54 Patients with Deficit Schizophrenia	Schizophrenia	Genome
196	18940311	9606	Brain	DSM-IV-TR	Case-control based	SNP Array	SNP-array	Table S2. Rare CNVs in 54 Patients with Deficit Schizophrenia	Schizophrenia	Genome
197	18940311	9606	Brain	DSM-IV-TR	Case-control based	SNP Array	SNP-array	Table S1. Common CNVs in 54 Patients with Deficit Schizophrenia	Schizophrenia	Genome
198	18973992	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	In our study on a single marker level, only rs9389020 shows nominal evidence for association (<U+00CF><U+2021>2=5.508, df=1,p=0.0228),	Schizophrenia	Genome
199	18989458	9606	Cell lines(lymphoblastoid)	DSM-IV	Case-control based	NA	Genotyping	Table 1 Single SNP and Haplotype Clinical Association Results.	Schizophrenia	Genome
200	19002671	9606	Blood	DSM-IV	Case-control based	TaqMan Genotyping Assay	TaqMan	C385A variance was significantly associated with changes in withdrawal after abstinence, and happiness after smoking marijuana in the predicted directions, was associated with changes in heart rate after smoking in the opposite of the predicted direction, and was not associated with changes in craving or other acute effects.	Cannabis Use Disorder	Genome
201	19014633	9606	Blood	NA	Case-control based	ARMS-PCR	ARMS-PCR	The lowest p-value of 0.11 was detected for the A-allele of the CNR1 SNP rs1049353 for which the transmission rate was 59% (95% confidence interval 47%...70%).	Anorexia Nervosa	Genome
202	19022628	9606	Blood	DSM-IV	Case-control based	Illumina BeadStation 500GX//1536-plex Illumina Golden Gate assay	SNP-array	Four markers (rs6671364, rs17461259, rs472188, and rs535620) attained nominally significant P-values in both the genotypic (0.002, 0.02, 0.03, and 0.05, respectively) and allelic (0.001,0.006, 0.03, and 0.02, respectively) association tests for the combined sample, and 2 additional markers (rs481047and rs1160751) displayed significance for the genotype (P-values: 0.03 and 0.04).	Schizophrenia	Genome
203	19035560	9606	Blood	ICD-10//DSM-IV	Family based	NA	Genotyping	TABLE II Results of Pairwise and Haplotype Association Analysis for SNPs in FXR1 and the HTR3-Cluster	Autism Spectrum Disorder	Genome
204	19049562	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	To the best of our knowledge, this is the first study reporting a positive association between the SNP rs1045280 and TD in schizophrenic patients.	Schizophrenia	Genome
205	19051237	9606	Blood	DSM-IV	Family based	Illumina GoldenGate array	SNP-array	TABLE II. Associations of Sapap3 Polymorphisms with Grooming and Obsessive-Compulsive Disorders: Genotype Model	Obsessive Compulsive Disorder	Genome
206	19054571	9606	Blood	DSM-IV	Case-control based	NA	PCR-RFLP	Table 2 List of candidate genes and polymorphisms selected for analysis	Schizophrenia	Genome
207	19058789	9606	Blood	DSM-IV-TR	Case-control based	GoldenGate bead array	SNP-array	Table 5. Results Combined Analysis Study For ASD	Autism Spectrum Disorder	Genome
208	19058789	9606	Blood	DSM-IV-TR	Case-control based	GoldenGate bead array	SNP-array	However, in the first and second ASD samples and in a joint statistical analysis, a significant association between SNP rs167771 located in the DRD3 gene was found (joint analysis uncorrected: p=3.11<U+00C3>—10-6; corrected for multiple testing and potential stratification: p=.00162).	Autism Spectrum Disorder	Genome
209	19058791	9606	Blood	DSM-IV	Case-control based	NA	SNPlex	The SNP8NRG243177 risk T allele was significantly associated, in an allele copy number-dependent fashion, with increased lateral ventricle volume.	Schizophrenia	Genome
210	19077434	9606	Blood	DSM-IV-TR	Case-control based	NA	qRT-PCR	We found significant association between eight SNPs in the NOS1AP gene region to schizophrenia (minimum p value=0.004). (Table 1. Single marker TDT (TRANSMIT) for 22 SNPs within the CAPON gene)	Schizophrenia	Genome
211	19115993	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Using the Multifactor Dimensionality Reduction (MDR)method, we found that the interactions among rs3102460 in the ADSS gene and rs227061 and rs664143 in the ATM gene revealed a significant association with SZ.	Schizophrenia	Genome
212	19115993	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Table 1: Genotypic and allelic distributions of the 9 SNPs in cases and controls	Schizophrenia	Genome
213	19118813	9606	Blood	DSM-IV-TR	Case-control based	NA	SNP-array	Although no marker withstood multiple test correction for association with the binary SZ phenotype, we found strong evidence of association by using the a€<U+02DC>a€<U+02DC>delusiona€<U+2122>a€<U+2122> factor as the quantitative trait at three SNPs (rs10883866, rs10748842, and rs6584400) located in a 13 kb interval in intron 1 of Neuregulin 3 (NRG3).	Schizophrenia	Genome
214	19126776	9606	Blood//Brain	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Table 1.Genetic association of MEIS1 SNPs rs12469063 and rs2300478 in 28 RLS and 140 control brain samples	Restless Legs Syndrome	Genome
215	19132710	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	TABLE I. Association Analysis of all SNPs Genotyped Spanning SNAP25	Schizophrenia	Genome
216	19152386	9606	Blood	DSM-IV	Family based	Illumina BeadArray	SNP-array	Among the 13 SNPs we genotyped, only one SNP gave a significant association signal that survived the Bonferroni correction. When the single SNP analysis was conducted with RS301443, the P-value was 0.000067 (if corrected for 12 single SNP tests, the P-value is 0.00087; after correction for single and haplotype analyses, the P-value is 0.0167).	Obsessive Compulsive Disorder	Genome
217	19154657	9606	Blood//Brain	DSM-IV//DSM-III-R	Case-control based	Sequenom//ABI Prism 7900HT	MassARRAY	In the first cohort we observed association between six (out of 26 genotyped) single nucleotide polymorphisms (SNPs) and the disease (p<0.05).	Schizophrenia	Genome
218	19158809	9606	Blood	DSM-IV	Case-control based	TaqMan//ABI PRISM 7900HT	TaqMan//MassArray	Of the 183 SNPs successfully genotyped, only 1 SNP, rs6277 (C957T) in the DRD2 gene (P=0.0010, odds ratio=1.76), was considered to be significantly associated with schizophrenia after the replication study using independent sample sets.	Schizophrenia	Genome
219	19159868	9606	Blood	DSM-IV-TR	Case-control based	NA	Genotyping	The major findings of this study were that, among the individuals carrying the rs3751082 A allele in the ALDH3B1 gene, the rs4633 T allele in the COMT gene was associated with susceptibility to paranoid schizophrenia (p=.004), development of hallucination (p=.141E-5), delay of P300 latency in both patients (p=.006) and control subjects (p=.02), and increased expression of the COMT gene in control subjects (p=.002).	Paranoid Schizophrenia	Genome
220	19165232	9606	Blood	DSM-IV	Case-control based	Human Mapping 500 K Array	SNP-array	Table 2 SNPs showing significant association with panic disorder (P<1.0<U+00C3>—1-6)	Panic Disorder	Genome
221	19166596	9606	Blood	NA	Family based	SNPlex Genotyping	SNPlex	Table 1 Polymorphisms associated with bipolar disorder	Bipolar Disorder	Genome
222	19166596	9606	Blood	NA	Family based	SNPlex Genotyping	SNPlex	In TEF, rs738499 was associated with unipolar depression; in a replication study, rs738499 was also associated with the QIDS-SR depression scale in the sleep clinic patient sample.	Bipolar Disorder	Genome
223	19166596	9606	Blood	NA	Family based	SNPlex Genotyping	SNPlex	In NR1D1, rs2314339 was associated with bipolar disorder (P=0.0005).	Bipolar Disorder	Genome
224	19166596	9606	Blood	NA	Family based	SNPlex Genotyping	SNPlex	A PPARGC1B coding SNP, rs7732671, was associated with affective disorder with nominal significance in bipolar family groups and independently in unipolar sib pairs.	Bipolar Disorder	Genome
225	19181484	9606	Blood	NA	Case-control based	NA	qRT-PCR	The rs3087454 SNP, located at position -1831 bp in the upstream regulatory region of CHRNA7, was significantly associated with schizophrenia in the case-control samples after multipletesting correction (P=0.0009, African American; P=0.013, Caucasian-Non Hispanic); the association was supported in family members. There was nominal association of this SNP with smoking in schizophrenia.	Schizophrenia	Genome
226	19184136	9606	Blood	DSM-IV	Family based	TaqMan Assay	TaqMan	Examination of the male-only dataset identified additional nominally significant results in MTNR1B (p=0.006), a melatonin receptor on chromosome 11, SLC7A5 (p=0.003) on chromosome 16, and a marginal association for AANAT (p=0.01) on chromosome 17.	Autism Spectrum Disorder	Genome
227	19184136	9606	Blood	DSM-IV	Family based	TaqMan Assay	TaqMan	Our most significant p-value was 0.0002 at rs1150220 in HTR3A, a serotonin receptor located on chromosome 11, the only result that survives a Nyholt correction (p=0.022).	Autism Spectrum Disorder	Genome
228	19184136	9606	Blood	DSM-IV	Family based	TaqMan Assay	TaqMan	In the male-only subset, we observed only a single LOD score >1.0 (1.36) for rs34532313 in MTNR1A (chromosome 4) in a dominant model (supplementary material).	Autism Spectrum Disorder	Genome
229	19197363	9606	Blood	DSM-IV//ICD-10	Case-control based	SNP-array	SNP-array	Collectively, these analyses provide the first integrated study of SNPs and CNVs in schizophrenia and support the emerging view that rare deleterious variants may be more important in schizophrenia predisposition than common polymorphisms. (Table 4 All CNVs greater than 2 Mb)	Schizophrenia	Genome
230	19197363	9606	Blood//Saliva	DSM-IV//ICD-10	Case-control based	Illumina HumanHap300 chip	SNP-array	Table 1 The top 100 SNPs associated with schizophrenia.	Schizophrenia	Genome
231	19197363	9606	Blood	DSM-IV//ICD-10	Case-control based	Illumina HumanHap550//HumanHap300//Human-610 Quad	SNP-array	Collectively, these analyses provide the first integrated study of SNPs and CNVs in schizophrenia and support the emerging view that rare deleterious variants may be more important in schizophrenia predisposition than common polymorphisms. (Table 4 All CNVs greater than 2 Mb)	Schizophrenia	Genome
232	19204064	9606	Blood	DSM-IV	Case-control based	Genotyping//PCR	Genotyping//PCR	Mice with functional genetic ablation of the Tacr1 (substance P-preferring receptor) gene (NK1R<U+2212>/<U+2212>) are hyperactive. Here, we investigated whether this is mimicked by NK1R antagonism and whether dopaminergic transmission is disrupted in brain regions that govern motor performance.	Attention-Deficit/Hyperactivity Disorder	Genome
233	19204064	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	Taqman	Four single-nucleotide polymorphisms (rs3771829, rs3771833, rs3771856, and rs1701137) at the TACR1 gene, previously known to be associated with bipolar disorder or alcoholism, were strongly associated with ADHD.	Attention-Deficit/Hyperactivity Disorder	Genome
234	19259978	9606	Blood	DSM-IV	Case-control based	NA	NA	In this study, an association was found between the ITGA4 rs1449263 marker and levels of a serum autoantibody directed to brain tissue, which was previously shown to be significantly more frequent in autistic patients than in age-matched controls in our population.	Autism Spectrum Disorder	Genome
235	19282821	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	We targeted three functional polymorphisms related to the D2 receptor (DRD2) gene, as well as the functional A118G polymorphism of the mu-opioid receptor (OPRM1) gene.	Bulimia Nervosa	Genome
236	19295509	9606	Blood	DSM-IV	Case-control based	Illumina BeadArray	SNP-array	Table 2 Single SNP associations with ED (po0.05) among 574 men treated with citalopram for up to 14 weeks	Erectile Disorder	Genome
237	19304505	9606	Blood	NA	Case-control based	NA	PCR//Pyrosequencing	The presence of the C allele at C1072T in DRD(2) gene is associated with increased susceptibility to stuttering in Han Chinese, whereas the T allele provides protection against the onset of stuttering.	Childhood-Onset Fluency Disorder	Genome
238	19309018	9606	Blood	DSM-IV-TR	Case-control based	TaqMan Assay	TaqMan	TABLE IIb. Polymorphisms in the DRD2 Gene in Patients With and Without Delirium	Delirium	Genome
239	19309018	9606	Blood	DSM-IV-TR	Case-control based	TaqMan Assay	TaqMan	TABLE IIc. Polymorphisms in the DRD3 Gene in Patients With and Without Delirium	Delirium	Genome
240	19309018	9606	Blood	DSM-IV-TR	Case-control based	TaqMan Assay	TaqMan	TABLE IIa. Polymorphisms in the SLC6A3 Gene in Patients With and Without Delirium	Delirium	Genome
241	19324536	9606	Blood	CYBOCS//HAM-A//HAM-D//YGTSS	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The only significant region by genotype interaction was with GRIN2B-rs1805476 (F=5.66 (1, 12), P=0.04) due to a greater difference between genotype groups for OCC (Table 1) compared with ACC.	Obsessive Compulsive Disorder	Genome
242	19324536	9606	Blood	CYBOCS//HAM-A//HAM-D//YGTSS	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	A significant association was identified between the rs1019385 polymorphism of glutamate receptor, ionotropic, N-methyl-d-aspartate 2B (GRIN2B) and decreased anterior cingulate cortex (ACC) glutamatergic concentration (Glx, p=0.02) but not with occipital Glx. These results suggest that GRIN2B may be associated with Glx in ACC, a region consistently implicated in OCD.	Obsessive Compulsive Disorder	Genome
243	19349310	9606	Blood	DSM-IV	Case-control based	TaqMan 5a€2 nuclease assay	TaqMan	We identified 3 SNPs in or near SLC1A1 that correlated with gene expression levels, 1 of which had previously been associated with OCD. Two of these SNPs also predicted expression levels in human brain tissue, and 1 SNP was further functional in reporter gene studies. Two haplotypes at 3 SNPs, rs3087879, rs301430, and rs7858819, were significantly associated with OCD after multiple-testing correction and contained 2 SNPs associated with expression levels. In addition, another SNP correlating with SLC1A1 gene expression, rs3933331, was associated with an OCD-hoarding subphenotype as assessed by 2 independent, validated scales.	Obsessive Compulsive Disorder	Genome
244	19349310	9606	Blood	DSM-IV	Case-control based	TaqMan 5a€2 nuclease assay	TaqMan	In addition, another SNP correlating with SLC1A1 gene expression, rs3933331, was associated with an OCD-hoarding subphenotype as assessed by 2 independent, validated scales.	Obsessive Compulsive Disorder	Genome
245	19351416	9606	Blood	DSM-IV//NINCDS-ADRDA	Case-control based	NA	qPCR	PRNP 1368 polymorphism was not significantly associated with incidence of sporadic AD and VaD in Koreans. However, in the haplotype analysis among 3 PRNP polymorphisms, we observed a significant association between haplotype ht5 and VaD.	Vascular Neurocognitive Disorder	Genome
246	19360657	9606	Blood	DSM-IV	Case-control based	NA	NA	The G allele of rs301979 was undertransmitted (equivalent to overtransmission of the C allele under a dominant model) to individuals with autism (Z=-2.47, P=0.01).	Autism Spectrum Disorder	Genome
247	19360657	9606	Blood	DSM-IV	Family based	TaqMan SNP Genotyping Assay	TaqMan	We tested three SNPs (rs301430, rs301979, rs301434) in SLC1A1 previously identified for association with OCD in an autism sample.	Obsessive Compulsive Disorder	Genome
248	19360663	9606	Blood	NA	Family based	TaqMan Assay	TaqMan	Table 3 Family-based association test (FBAT) analyses.	Autism Spectrum Disorder	Genome
249	19360665	9606	Blood	DSM-IV	Family based	NA	Genotyping	We detected association at rs2292813 (FBAT, P=0.0018) in the Finnish autism sample.	Autism Spectrum Disorder	Genome
250	19360691	9606	Blood	DSM-IV//ADI-R	Family based	NA	Genotyping	Table 3 Pedigree Disequilibrium Test (PDT) and Geno-PDT Results	Autism Spectrum Disorder	Genome
251	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A2 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
252	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A3 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
253	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A4 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
254	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A5 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
255	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A6 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
256	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A7 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
257	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A8 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
258	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A9 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
259	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A10 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
260	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A11 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
261	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A12 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
262	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A13 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
263	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A14 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
264	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A15 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
265	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A16 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
266	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A17 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
267	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A18 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
268	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A19 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
269	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A20 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
270	19387424	9606	Blood	DSM-IV	Case-control based	MassArray//PCR-RFLP	MassArray//PCR-RFLP	Atomoxetine is a specific inhibitor of the norepinephrine transporter (NET) that has demonstrated efficacy in the treatment of children with attention-deficit hyperactivity disorder (ADHD). We investigated whether polymorphisms in the NET/SLC6A2 gene may influence atomoxetine response in ADHD. Two independent cohorts of 160 and 105 ADHD children treated for 6 weeks with atomoxetine (0.5-1.8 mg/kg per day) were genotyped on CYP2D6, which metabolizes atomoxetine, and 108 single nucleotide polymorphisms in the NET/SLC6A21 gene.	Attention-Deficit/Hyperactivity Disorder	Genome
271	19387424	9606	Blood	DSM-IV	Case-control based	Sequenom MassArray//PCR-RFLP	MassArray//PCR-RFLP	Table 2 List of the 21 SNPs, Among 108 Polymorphisms Across The Net/Slc6a2 Gene, With a Nominal Significance for Association to Atomoxetine Response After 6 Weeks of Treatment in At Least One ADHD Cohort	Attention-Deficit/Hyperactivity Disorder	Genome
272	19401682	9606	Blood	ADI-R//ASDS	Family based	Illumina array	SNP-array	Table 3 Family-based analysis of replication samples using UNPHASED	Autism Spectrum Disorder	Genome
273	19404256	9606	Blood	ADI-R//ASDS	Case-control based	Illumina HumanHap550 BeadChip	SNP-array	Table 2 The most significantly associated SNPs (P<1<U+00C3>—10-4 in the discovery phase) between CDH10 and CDH9 on 5p14.1	Autism Spectrum Disorder	Genome
274	19404257	9606	Blood		Case-control based	MLPA//qPCR	MLPA//qPCR	Table 1 CNVs in gene regions previously implicated in ASDs	Autism Spectrum Disorder	Genome
275	19404257	9606	Blood		Case-control based	SNP-array	SNP-array	Table 1 CNVs in gene regions previously implicated in ASDs	Autism Spectrum Disorder	Genome
276	19404257	9606	Blood		Family based	SNP-array	SNP-array	Table 2 New common CNVRs over-represented in ASD patients	Autism Spectrum Disorder	Genome
277	19404257	9606	Blood		Case-control based	MLPA	MLPA	Table 1 CNVs in gene regions previously implicated in ASDs	Autism Spectrum Disorder	Genome
278	19404257	9606	Blood		Case-control based	qPCR	qPCR	Table 1 CNVs in gene regions previously implicated in ASDs	Autism Spectrum Disorder	Genome
279	19404257	9606	Blood	NA	Case-control based	MLPA//qPCR	MLPA//qPCR	Table 1 CNVs in gene regions previously implicated in ASDs	Autism Spectrum Disorder	Genome
280	19404257	9606	Blood	NA	Case-control based	Affymetrix	SNP-array	Table 1 CNVs in gene regions previously implicated in ASDs	Autism Spectrum Disorder	Genome
281	19404257	9606	Blood	NA	Family based	Illumina HumanHap550 BeadChip	SNP-array	Table 2 New common CNVRs over-represented in ASD patients	Autism Spectrum Disorder	Genome
282	19404257	9606	Blood	NA	Case-control based	MLPA	MLPA	Table 1 CNVs in gene regions previously implicated in ASDs	Autism Spectrum Disorder	Genome
283	19404257	9606	Blood	NA	Case-control based	qPCR	qPCR	Table 1 CNVs in gene regions previously implicated in ASDs	Autism Spectrum Disorder	Genome
284	19448189	9606	Blood	DSM-IV	Case-control based	Affymetrix GeneChip Human Mapping 500K Array	SNP-array	TABLE 2 Chromosomal Regions With at Least One SNP Associated With Lithium Response in the STEP-BD and University College London Cohorts	Bipolar Disorder	Genome
285	19448189	9606	Blood	DSM-IV	Case-control based	Affymetrix GeneChip Human Mapping 500K Array	SNP-array	The SNP with the greatest evidence for association was located on the chromosomal region 10p15 (minimum p=5.5<U+00C3>— 10-7 for rs10795189).	Bipolar Disorder	Genome
286	19455149	9606	Blood	ADI-R//ASDS	Case-control based	Microarray	Microarray	Table 2 Single marker Association Results	Autism Spectrum Disorder	Genome
287	19456320	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	A novel region on chromosome 5p14.1 showed significance in both the discovery and validation datasets. Joint analysis of all SNPs in this region identified 8 SNPs having improved p-values (3.24E-04 to 3.40E-06) than in either dataset alone.//Table 2 Association statistics for validated SNPs on chromosome 5p14.1	Autism Spectrum Disorder	Genome
288	19473288	9606	Blood	IIEF-5	Case-control based	qPCR	qPCR	The eNOS 894T allele carriers had significantly higher frequencies of ED and higher IPSS, suggesting that eNOS G894T gene polymorphisms may play an implication as a genetic susceptibility factor for both ED and BPH/LUTS.	Erectile Disorder	Genome
289	19492091	9606	Blood	DSM-IV-TR	Case-control based	SNP-array	SNP-array	Table 4 CNVs containing genes related to glycobiology in non-complex-autism patients.	Autism Spectrum Disorder	Genome
290	19492091	9606	Blood	DSM-IV-TR	Case-control based	HumanHap300 Beadchips	SNP-array	Table 4 CNVs containing genes related to glycobiology in non-complex-autism patients.	Autism Spectrum Disorder	Genome
291	19515207	9606	Blood	IIEF-5	Case-control based	NA	qPCR	We found significant differences in allelic and genotypic frequencies between patients and controls for the G894T eNOS polymorphisms. The presence of 894T allele in carriers increased the risk of ED. No association was found between VNTR polymorphism and in patients with ED.	Erectile Disorder	Genome
292	19528658	10090	Brain	NA	Case-control based	NA	qPCR	Mice harboring this SNP (A112G) demonstrated several phenotypic similarities to humans carrying the A118G SNP, including reduced mRNA expression and morphine-mediated antinociception.	Drug Abuse	Genome
293	19528963	9606	Blood	DSM-IV 	Case-control based	aCGH	aCGH	Table 2 Characterization and validation by array technologies of rare CNVs found in patients with schizophrenia	Schizophrenia	Genome
294	19528963	9606	Blood	DSM-IV	Case-control based	aCGH	aCGH	Table 2 Characterization and validation by array technologies of rare CNVs found in patients with schizophrenia	Schizophrenia	Genome
295	19538209	9606	Blood	NA	Case-control based	PCR-RFLP	PCR-RFLP	The results of our study indicate that, compared to the general population, patients with PD present significant differences in the distribution of BDNF G196A and that the higher prevalence of this genotype in PD patients is associated with cognitive impairment and disease severity.	Neurocognitive Disorder Due to Parkinson's Disease	Genome
296	19541292	9606	Blood	NA	Case-control based	Affymetrix Perlegen 5.0//Illumina 370//Illumina 660//Illumina Omni Express 1M//Affymetrix 6.0	SNP-array	Table 2 Promising SNPs on chromosome 5 tested using GEE in the NTR sample N=5802	Borderline Personality Disorder	Genome
297	19553914	9606	Blood	DSM-IV	Case-control based	TaqMan Genotyping Assay	TaqMan	Table 2 Information on NK1R SNPs genotyped in the current study	Alcohol Use Disorder	Genome
298	19565319	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Nominal association with the disorder was observed for rs2236624-CC, and phenotypic variability in ASD symptoms was influenced by rs3761422, rs5751876 and rs35320474.	Autism Spectrum Disorder	Genome
299	19567891	9606	Blood	DSM-IV//ICD-10	Case-control based	Illumina HumanHap300 chip//Illumina HumanHap550 chip//Human-610 Quad Beadchip	SNP-array	Table 2 Independent association signals at P<10-5 for comparison of participants in the Research Diagnostic Criteria (RDC) schizoaffective disorder, bipolar type group against controls.	Schizophrenia	Genome
300	19567891	9606	Blood	DSM-IV//RDC//ICD-10	Case-control based	Sequenom MassARRAY	MassARRAY	Table 2 Independent association signals at P<10-5 for comparison of participants in the Research Diagnostic Criteria (RDC) schizoaffective disorder, bipolar type group against controls.	Bipolar Disorder	Genome
301	19569082	9606	Blood	DSM-IV	Case-control based	NA	qPCR	We identified one nonsynonymous coding SNP (c.490A >G, T164A) and three synonymous coding SNP (c.81G >C, A27A; c.414A >G, T138T;c.1110T >C, T370T) in case samples.	Obsessive Compulsive Disorder	Genome
302	19571808	9606	Blood	DSM-IV//ICD-10	Case-control based	HumanHap300 BeadChips//HumanHap550 BeadChips	SNP-array	Supplementary Table 1. Top association results from SGENE-plus (2,663 cases / 13,498 controls)	Schizophrenia	Genome
303	19571809	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Table S14: MGS results for significant MHC SNPs with and without correction for MHC-specific PCs	Schizophrenia	Genome
304	19571811	9606	Blood	NA	Case-control based	NA	qRT-PCR	The best imputed SNP, which reached genome-wide significance (rs3130297, P =4.79<U+00C3>—10-8, T allele, OR=0.747, MAF=0.114, 32.3Mb), was also in the MHC, 7kb from NOTCH4.	Schizophrenia	Genome
305	19571811	9606	Blood	NA	Case-control based	SNP Array	SNP-array	Our top genotyped MHC SNP (rs3130375) had P=0.086 and P=0.14 in MGS and SGENE.	Bipolar Disorder	Genome
306	19571811	9606	Blood	NA	Case-control based	SNP Array	SNP-array	The best imputed SNP, which reached genome-wide significance (rs3130297, P=4.79<U+00C3>—10-8, T allele, OR=0.747, MAF=0.114, 32.3Mb), was also in the MHC, 7kb from NOTCH4, a gene with previously reported associations with SCZ.	Bipolar Disorder	Genome
307	19576958	9606	Blood	DSM-IV	Family based	Genotyping//TaqMan	Genotyping//TaqMan	In a family-based sample of 450 ADHD probands, three Single Nucleotide Polymorphism (SNP) markers have been genotyped using TaqMan assays. Transmission Disequilibrium Test analysis demonstrates that one of three SNP markers (rs11564750) in the 5' promoter region of the gene is significantly associated with ADHD (P=0.02). This provides further evidence that in addition to the well-known and investigated 3'UTR polymorphism associated with ADHD, there is potentially a further association signal emanating from the 5' promoter region of the gene.	Attention-Deficit/Hyperactivity Disorder	Genome
308	19576958	9606	Blood	DSM-IV	Family based	TaqMan Assay	TaqMan	In a family-based sample of 450 ADHD probands, three Single Nucleotide Polymorphism (SNP) markers have been genotyped using TaqMan assays. Transmission Disequilibrium Test analysis demonstrates that one of three SNP markers (rs11564750) in the 5  promoter region of the gene is significantly associated with ADHD (P=0.02).	Attention-Deficit/Hyperactivity Disorder	Genome
309	19578685	9606	Blood	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	The results of the present investigation do not provide evidence for the association between the -62A/T NFKBIL1 polymorphism and obsessive-compulsive disorder in this Brazilian sample.	Obsessive Compulsive Disorder	Genome
310	19581569	9606	Blood	DSM-IV//SSAGA//CIDI	Case-control based	GWAS//Human Hap 550 BeadChip	GWAS//Human Hap 550 BeadChip	The GWAS produced 121 SNPs with nominal p<10-4. These, together with 19 additional SNPs from homologs of rat genes showing differential expression, were genotyped in the follow-up sample. Fifteen SNPs showed significant association with the same allele as in the GWAS. In the combined analysis, two closely linked intergenic SNPs met genome-wide significance (rs7590720 p=9.72×10-9; rs1344694 p=1.69×10-8). They are located on chromosome 2q35, a region which has been implicated in linkage studies for alcohol phenotypes. Nine SNPs were located in genes, including CDH13 and ADH1C genes which have been reported to be associated with alcohol dependence.	Alcohol Use Disorder	Genome
311	19588468	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	For ITGB3, nominally significant association was identified at RS3809865 overall (P=0.040) and within FH+ families (P=0.031).	Autism Spectrum Disorder	Genome
312	19588468	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	While not significant in the overall dataset, nominally significant association was identified at RS2066713 (P=0.006) within SLC6A4 in family-history negative (FH-) families, at RS2066713 (P=0.038) in family-history positive (FH+) families but with the opposite risk allele as in the FH- families.	Autism Spectrum Disorder	Genome
313	19589503	9606	Blood	DSM-IV	Case-control based	NA	qPCR	We found an association for a haplotype containing two single nucleotide polymorphisms that have previously been reported to be associated with treatment outcome in MD (rs908867 and rs1491850).	Obsessive Compulsive Disorder	Genome
314	19598235	9606	Blood	ICD-10//DSM-IV	Case-control based	NA	Genotyping	Table III. List of the Six Genes that Show Nominal Significance at Pr0.05 in Both Experiments	Autism Spectrum Disorder	Genome
315	19605777	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Table 1. Y Chromosome Single-Nucleotide Polymorphisms Investigated in Our Studies	Autism Spectrum Disorder	Genome
316	19625010	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Multiple logistic regression analysis of the C3435T SNP and variables identified in univariate analyses indicated that the CC genotype was independently associated with cannabis dependence (P=0.045, OR=6.61 [1.05-46.58]). This is the first time a significant specific genetic marker has been shown in cannabis dependence.	Cannabis Use Disorder	Genome
317	19659925	9606	Blood	DSM-IV	Case-control based	NA	qPCR	The present study assessing CNR1 and FAAH gene SNP variants in ED patients supports a potential role of the synonymous CNR1 rs1049353 A/G and the FAAH cDNA 385C to A SNPs in the biological susceptibility to either AN and BN.	Anorexia Nervosa	Genome
318	19659925	9606	Blood	DSM-IV	Case-control based	NA	qPCR	The present study assessing CNR1 and FAAH gene SNP variants in ED patients supports a potential role of the synonymous CNR1 rs1049353 A/G and the FAAH cDNA 385C to A SNPs in the biological susceptibility to either AN and BN.	Bulimia Nervosa	Genome
319	19667324	9606	Blood		Case report	SNP-array	SNP-array	We report a child with PKD who developed juvenile-onset dopa-responsive parkinsonism and was found to have a microdeletion at 16p11.2.	Motor Disorders	Genome
320	19667324	9606	Blood	NA	Case report	SNP Array	SNP-array	We report a child with PKD who developed juvenile-onset dopa-responsive parkinsonism and was found to have a microdeletion at 16p11.2.	Motor Disorders	Genome
321	19673052	9606	Blood	NA	Case-control based	NA	Genotyping	DNA samples were collected in order to assess the exon III repeat polymorphism in the coding region and the -521 C/T single nucleotide polymorphism (SNP) in the regulatory region of the DRD4 gene and a repeat polymorphism (5-HTTLPR) in the promoter region of the serotonin transporter gene.	Reactive Attachment Disorder	Genome
322	19674121	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	Table 2 Overall dataset and male only association analysis results	Autism Spectrum Disorder	Genome
323	19680270	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	Table 2 SNP allelic association with AN	Anorexia Nervosa	Genome
324	19681062	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	This study is the third independent study to find the rs1858830 C variant in the MET gene promoter to be associated with autism.	Autism Spectrum Disorder	Genome
325	19698724	9606	Blood//CAD cells	DSM-IV	Case-control based	Genotyping//PCR	Genotyping//PCR	We identified four NET coding single nucleotide polymorphisms (SNPs) in two ADHD sample sets; two SNPs produce protein variants (T283M, V245I), one of which, T283M, is a novel variant. Examination of the maternal family members through whom the T283M mutation was transmitted, provided no additional ADHD diagnoses.	Attention-Deficit/Hyperactivity Disorder	Genome
326	19698724	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Four coding region SNPs were identified in the samples (Table 3). Two were synonymous (rs1805068, rs5569) and two were nonsynonymous (rs1805066, unassigned rs number).	Attention-Deficit/Hyperactivity Disorder	Genome
327	19739106	9606	Blood	NA	Case-control based	NA	Genotyping//Meta-analysis	The SLC6A3 rs393795 homozygous AA genotype was more frequent in patients without delirium in all populations.	Delirium	Genome
328	19777562	9606	Blood	ICD-10//DSM-IV	Family based	PCR-RFLP	PCR-RFLP	The bold SNPs indicate SNPs of the marker combination (rs237851-rs6791619-rs53576-rs237884) yielding the strongest evidence of association (haplotype T-G-T-T).	Autism Spectrum Disorder	Genome
329	19783384	9606	Blood	NA	Case-control based	TaqMan Assay	TaqMan	For case-control association tests, rs279871 was significantly associated with CD (p=0.02) but not AD phenotypes; the result did not survive strict correction for multiple testing. All family-based association tests were non-significant (CD p=0.48; CD symptom count age corrected within sex p=0.91; AD p=0.84; alcohol use disorder p=0.52).	Alcohol Use Disorder	Genome
330	19783384	9606	Blood	NA	Case-control based	TaqMan Assay	TaqMan	For case-control association tests, rs279871 was significantly associated with CD (p=0.02) but not AD phenotypes; the result did not survive strict correction for multiple testing. All family-based association tests were non-significant (CD p=0.48; CD symptom count age corrected within sex p=0.91; AD p=0.84; alcohol use disorder p=0.52).	Conduct Disorder	Genome
331	19800665	9606	Blood	IIEF-5	Case-control based	qPCR	qPCR	The CC genotype of T-786C polymorphism in the promoter of eNOS gene is associated with increased risk of ED in Turkish population.	Erectile Disorder	Genome
332	19805367	9606	Blood	DSM-IV 	Family based	SNP-array	SNP-array	Overall, our results from approaches designed to detect risk variants with relatively low frequency and high penetrance in a well-defined and relatively homogeneous population, provide strong empirical evidence supporting the notion that multiple genetic variants, including individually rare ones, that affect many different genes contribute to the genetic risk of familial schizophrenia. (Table S2. Identified rare inherited copy number mutations)	Schizophrenia	Genome
333	19805367	9606	Blood	DSM-IV	Family based	SNP Array	SNP-array	Overall, our results from approaches designed to detect risk variants with relatively low frequency and high penetrance in a well-defined and relatively homogeneous population, provide strong empirical evidence supporting the notion that multiple genetic variants, including individually rare ones, that affect many different genes contribute to the genetic risk of familial schizophrenia. (Table S2. Identified rare inherited copy number mutations)	Schizophrenia	Genome
334	19806148	9606	Blood	DSM-IV	Case-control based	NA	qPCR	A noteworthy lack of association at the LPR, LPR-rs25531 and rare 425V variants suggests that hypotheses about OCD risk need revision to accommodate these new findings, including a possible gender effect.	Obsessive Compulsive Disorder	Genome
335	19822783	9606	Blood	DSM-IV-TR	Case-control based	NA	qPCR	The study provided 3 single-nucleotide polymorphisms within BTBD9 associated with TS (chi(2)=8.02 [P=.005] for rs9357271), with the risk alleles for restless legs syndrome and periodic limb movements during sleep overrepresented in the TS cohort.	Tourette's Disorder	Genome
336	19822783	9606	Blood	DSM-IV-TR	Case-control based	NA	qPCR	The most significant SNP in BTBD9 (rs9357271[P=.005]) was further analyzed to verify the presence of more specific genotype-phenotype correlations in TS with and without OCD and ADD, which are the most prevalent TS comorbidities observed in clinical practice.	Tourette's Disorder	Genome
337	19874574	9606	Blood	NA	Case-control based	Illumina GoldenGate assay	SNP-array	Table 3 Genetic (SNP) Associations with Alcohol Consumption: WHO/ISBRA Subjects	Alcohol Use Disorder	Genome
338	19874574	10116	Brain	NA	Case-control based	Illumina Goldengate SNP technology assay	SNP-array	Table 1 Candidate Genes for Alcohol Consumption by HXB/BXH RI Rats.(All transcripts listed displayed an eQTL/bQTL overlap, showed a significant correlation with alcohol consumption, and passed the filters for heritability and detectability of expression.)	Alcohol Use Disorder	Genome
339	19891732	9606	Blood	DSM-5	Case-control based	NA	Genotyping	Both restriction fragment length polymorphism and sequencing of DNA samples of the subjects showed that among the six reported SNPs in exon1 of hOPRM1, only the most common SNP A118G was detected in the samples.	Heroin Addiction	Genome
340	19895723	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	In the case-control study, three SNPs (rs3779547, rs4727847 and rs3729629), two major individual haplotypes (A-T-C and G-G-G, consisting of rs3779547, rs4727847, and rs3729629), and global probability values of the haplotype distributions in the same region (global p=0.0091) showed significant associations with autism.	Autism Spectrum Disorder	Genome
341	19901951	9606	Blood	NA	Family based	Sequenom MassARRAY	MassARRAY	Significant association was observed at the misssense mutation rs17819126 for all reading measures and for spelling of lexical processing words, and at rs3743204 for both irregular and nonword reading. Verbal short-term memory was associated with rs685935.	Developmental Dyslexia	Genome
342	19927159	9606	Blood	ICSD-2	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	We found that SNP rs1154155 located in TCRA locus, which has recently been identified as a novel genetic marker of susceptibility for narcolepsy with cataplexy, also confers susceptibility to the EHS group positive for the HLA-DRB1*1501-DQB1*0602 haplotype.	Narcolepsy	Genome
343	19959688	9606	Blood	NA	Case-control based	Illumina GoldenGate assay	SNP-array	Table 2 OPRM1 SNPs and association with Rasch modeled nicotine withdrawal sensitivity	Tobacco Withdrawal	Genome
344	19997043	9606	Blood	K-SADS-PL//DSM-IV	Case-control based	Genotyping//TaqMan	Genotyping//TaqMan	This study tested whether variation in three polymorphisms of the COMT gene was predictive of symptoms of conduct disorder and ADHD, in a sample of 174 incarcerated Russian adolescent male delinquents. The Val allele of the ValMet polymorphism was significantly associated with conduct disorder diagnosis and symptoms, whereas the Met allele was associated with ADHD symptoms.	Attention-Deficit/Hyperactivity Disorder	Genome
345	19997043	9606	Blood	K-SADS-PL//DSM-IV	Case-control based	TaqMan Genotyping Assay	Taqman	Genotypes for rs737865 and rs165599 did not predict diagnosis, nor did the most severe type of crime that participants had committed.	Conduct Disorder	Genome
346	19997043	9606	Blood	K-SADS-PL//DSM-IV	Case-control based	TaqMan Genotyping Assay	Taqman	Genotypes for rs737865 and rs165599 did not predict diagnosis, nor did the most severe type of crime that participants had committed.	Attention-Deficit/Hyperactivity Disorder	Genome
347	20010450	9606	Blood	DSM-IV-TR	Case-control based	NA	qPCR	We found a nominally significant association between both polymorphisms in the HTR2C and the GTS, which was more pronounced in male patients. Analysis of the further serotonergic polymorphisms did not reveal any significant result. A modified function of these promoter polymorphisms may contribute to the complex interplay of serotonin and dopamine and then to the manifestation of GTS.	Tourette's Disorder	Genome
348	20039944	9606	Blood	NA	Case-control based	Affymetrix 500K Arrays	SNP-array	Under the additive model for association, 10 SNPs (rs11225308, rs363449, rs17278234, rs11154532, rs12199332, rs12613365, rs6588923, rs2300052, rs6947045 and rs1215603) remain significantly associated (P<0.05) with individual differences in mathematical ability. Moreover, the first three associations in table2 remain significant after Bonferroni correction for all 43 SNPs tested. These intronic SNPs are located within MMP7, GRIK1 and DNAH5, respectively (see Table3).	Learning Disorder	Genome
349	20043001	9606	Buccal swabs	NA	Case-control based	NA	Genotyping	Table 2 Summary of the Genotyped SNPs	Gambling Disorder	Genome
350	20050924	9606	Blood	DSM-IV	Family based	NA	Genotyping	We observed significant preferential transmission of C allele of rs1861973 from the parents to affected offspring [transmission disequilibrium test (TDT): narrow diagnosis likelihood ratio statistics (LRS)=6.63, P=0.006; broad diagnosis LRS=4.47, P=0.05].	Autism Spectrum Disorder	Genome
351	20084518	9606	Blood	NA	Family based	TaqMan SNP Genotyping Assay//Illumina BeadChip	TaqMan//SNP-array	Of them, SNPs rs17189632 and rs10121600 in the pooled sample and rs11788456 in the EA sample remained significant after correction for multiple testing.We concluded that GRIN3A represents a strong candidate for involvement in the etiology of ND and warrants further investigation in independent samples.	Tobacco Use Disorder	Genome
352	20094064	9606	Blood	DSM-IV	Family based	TaqMan Assay	TaqMan	Table 2 Allele frequencies of 11 OXTR SNPs in 280 unrelated ASD cases and 440 controls	Autism Spectrum Disorder	Genome
353	20096387	9606	Cell lines(Neuronal cells)	DSM-IV-TR 	Case-control based	aCGH	aCGH	The simultaneous dosage imbalance of NXF5 and NXF2 genes in our patients may lead to a global impairment in neuronal mRNA export and regulation, resulting in a severe phenotype.	Intellectual Disability	Genome
354	20096387	9606	Cell lines(Neuronal cells)	DSM-IV-TR	Case-control based	aCGH	aCGH	The simultaneous dosage imbalance of NXF5 and NXF2 genes in our patients may lead to a global impairment in neuronal mRNA export and regulation, resulting in a severe phenotype.	Intellectual Disability	Genome
355	20122683	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Single nucleotide polymorphisms in two genes showed some evidence for association to social phobia: in ARNTL2 rs2306073 (p=.0099) and in DRD2 rs7131056 (p=.0084). BCL2 rs12454712 (p=.0029) and DRD2 rs4245146 (p=.0010) showed evidence for association to generalized anxiety disorder, whereas rs2463107 (p=.0064) in PAWR and rs4245146 (p=.0029) in DRD2 showed evidence for association to the pooled group of all anxiety disorders.	Anxiety Disorder	Genome
356	20122683	9606	Blood	DSM-IV-R	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Single nucleotide polymorphisms in two genes showed some evidence for association to social phobia: in ARNTL2 rs2306073 (p=.0099) and in DRD2 rs7131056 (p=.0084). BCL2 rs12454712 (p=.0029) and DRD2 rs4245146 (p=.0010) showed evidence for association to generalized anxiety disorder, whereas rs2463107 (p=.0064) in PAWR and rs4245146 (p=.0029) in DRD2 showed evidence for association to the pooled group of all anxiety disorders.	Anxiety Disorder	Genome
357	20122683	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Single nucleotide polymorphisms in two genes showed some evidence for association to social phobia: in ARNTL2 rs2306073 (p=.0099) and in DRD2 rs7131056 (p=.0084). BCL2 rs12454712 (p=.0029) and DRD2 rs4245146 (p=.0010) showed evidence for association to generalized anxiety disorder, whereas rs2463107 (p=.0064) in PAWR and rs4245146 (p=.0029) in DRD2 showed evidence for association to the pooled group of all anxiety disorders.	Anxiety Disorder	Genome
358	20156358	9606	Blood	NA	Case-control based	NA	Genotyping//Meta-analysis	Finally, we suggested several single nucleotide polymorphisms (SNPs) located on miRNAs, their target sites, and TFBSs, which may have an effect in schizophrenia gene regulation.(Additional file 3: SNPs on TFBS, miRNA sites and miRNA genes.)	Schizophrenia	Genome
359	20184941	9606	Blood	NA	Case-control based	NA	Genotyping	The data revealed no significant differences in the distribution of the COMT val(158)met polymorphism in RLS patients compared with the control group, also when the heterozygous and the homozygous group containing the (158)met allele were combined.	Restless Legs Syndrome	Genome
360	20202923	9606	Blood	DSM-IV	Case-control based	Illumina Human1Mv1_C BeadChips//Illumina Infinium II assay	SNP-array	Table 2. Genetic association testing for alcohol dependence: Adjusted odds ratios and confidence intervals for SNPs with P a‰¤ 1<U+00C3>—10-6	Alcohol Use Disorder	Genome
361	20303388	9606	Brain	NA	Case-control based	TaqMan Assay	TaqMan	Table 1 Genotype association results using PLINK. P-Values, odds ratio and confidence intervals are reported for the three samples plus a combined sample analysis.	Autism Spectrum Disorder	Genome
362	20346443	9606	Blood//Brain	DSM-IV 	Case-control based	aCGH	aCGH	Additional file 3: Genomic duplication and deletion events within 54 control and 119 autistic individuals identified by whole genome tilepath array comparative genomic hybridization (CGH).	Autism Spectrum Disorder	Genome
363	20346443	9606	Blood//Brain	DSM-IV	Case-control based	aCGH	aCGH	Additional file 3: Genomic duplication and deletion events within 54 control and 119 autistic individuals identified by whole genome tilepath array comparative genomic hybridization (CGH).	Autism Spectrum Disorder	Genome
364	20347265	9606	Blood	DSM-IV-TR	Case-control based	NA	qRT-PCR	We also demonstrated that this new variant ss178077483, combined with mir-30e rs7556088 and mir-24-MAPK14 rs3804452, showed a weak gene-gene interaction for schizophrenia risk (P=0.001).	Schizophrenia	Genome
365	20347265	9606	Blood	DSM-IV-TR	Case-control based	NA	qRT-PCR	We identified a new potentially functional variant ss178077483 located in the pre-mir-30e, which was strongly associated with schizophrenia (allelic P=0.00017; genotypic P=0.00015), with an odds ratio of 4.952 (95% confidence interval: 1.887-12.998).	Schizophrenia	Genome
366	20351715	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Two ANK3 SNPs exceeded genome-wide significance in the initial BIP report but were not supported in the MDD GWAS (rs10994336 and rs10994338 with p-values ~0.9).	Bipolar Disorder	Genome
367	20351715	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Two SNPs in a 10.5 kb region of CACNA1C exceeded a genome-wide significance level of 5<U+00C3>—10-8 (12): rs1006737(pfixed=3.1<U+00C3>—10-8) and rs7297582 (pfixed=3.4<U+00C3>—10-8) (Figure 1c).	Bipolar Disorder	Genome
368	20370803	9606	Blood//Buccal swabs	DSM-IV	Family based	Sequenom MassARRAY	MassARRAY	Table 1 Association with single marker GRIK2 SNPs in entire sample and U.S. subsample	Obsessive Compulsive Disorder	Genome
369	20375995	9606	Blood	DSM-IV	Family based	TaqMan Assay	TaqMan	In this study, we found an association between ESR1 gene and AN, mainly observed in the restrictive subtype of AN. We showed no association of ESR2 with AN, nor with RAN or BPAN subgroups.	Anorexia Nervosa	Genome
370	20410850	9606	Blood	ICD-10//DSM-IV	Case-control based	NA	Genotyping	The strongest association was detected with rs1340513 in the JMJD2C gene at 9p24.1 (P=0.007; corrected P=0.011) that is the same SNP associated with infantile autism (P=0.0007) in the autism genome project consortium (2007).	Autism Spectrum Disorder	Genome
371	20410850	9606	Blood	ICD-10//DSM-IV	Case-control based	NA	Genotyping	The strongest association was detected with rs1340513 in the JMJD2C gene at 9p24.1 (P=0.007; corrected P=0.011) that is the same SNP associated with infantile autism (P=0.0007) in the autism genome project consortium (2007).	Obsessive Compulsive Disorder	Genome
372	20410850	9606	Blood	ICD-10//DSM-IV	Case-control based	NA	Genotyping	Interestingly, the strongest association in OCD has been found at rs301443 (P=0.000067) residing between SLC1A1 and JMJD2C at 9p24.	Obsessive Compulsive Disorder	Genome
373	20414140	9606	Blood	DSM-IV	Family based	NA	Genotyping	The results show that a common noncoding variant (rs10500171) is associated with the increased risk for autism, and haplotype T-A (rs7794745-rs10500171, P=0.011) and haplotype A-T-A (rs10244837-rs7794745-rs10500171, P=0.032) also showed evidence of association.	Autism Spectrum Disorder	Genome
374	20427753	9606	Blood		Case-control based	Microarray	Microarray	Table 1 The rare exon-affecting CNVs that are either de novo or recurrent in the TS population	Tourette's Disorder	Genome
375	20427753	9606	Blood	NA	Case-control based	Microarray	Microarray	Table 1 The rare exon-affecting CNVs that are either de novo or recurrent in the TS population	Tourette's Disorder	Genome
376	20431429	9606	Blood	DSM-IIIR	Family based	NA	Genotyping	Evidence for association was found for three SNPs (rs6279, rs1079597 and rs4648318) and a five marker-haplotype comprising both rs6279 and rs1079597. Our findings replicate the association of DRD2 and GTS, and are consistent with the proposed connection between the dopamine system and this complex neuropsychiatric disease.	Tourette's Disorder	Genome
377	20446288	9606	Blood	NA	Case-control based	NA	qPCR	In this study, we describe a readily applicable genotyping method for rs1653625 by applying a primer that introduces mismatched nucleotides to create a restriction enzyme cleavage site.	Major Depressive Disorder	Genome
378	20451217	9606	Blood	DSM-IV	Case-control based	Illumina GoldenGate assay	SNP-array	The statistics for rs2171363 and rs6582078 are identical to those of the a€<U+0153>riska€<U+009D> haplotype because all subjects within the European white subsample who carry any of these a€<U+0153>riska€<U+009D> alleles also carry the entire a€<U+0153>riska€<U+009D> haplotype. The rs1352250 allele was also significantly associated with BPD diagnosis (<U+00CF><U+2021>2=4.55, df=1, p<0.05); within the BPDs, 92.1% have the a€<U+0153>riska€<U+009D> allele while 7.9% have the a€<U+0153>non-riska€<U+009D> allele.	Borderline Personality Disorder	Genome
379	20452395	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	However, we observed trends for association on the TaqIA/rs1800497 polymorphism (P=0.10) and the haplotype flanking DRD2 (G/C/A rs11604671/rs4938015/rs2303380; P=0.06).	Gambling Disorder	Genome
380	20453482	9606	Blood	IIEF-5	Case-control based	Genotyping//PCR	Genotyping//PCR	Our findings indicated that polymorphisms in the 5-HT(2C) receptor gene are associated with LPE, and men who carry the -759T or -697C genotype have increased odds of premature ejaculation.	Premature (Early) Ejaculation	Genome
381	20462563	9606	Blood	DSM-IV	Case-control based	NA	qPCR	There was no significant association between any genotype and clinical category and no significant allele distribution profiles for rs25531 or 5-HTTLPR/rs25531 in either the premenstrual dysphoric disorder or the control groups.	Premenstrual Dysphoric Disorder	Genome
382	20468064	9606	Blood	DSM-IV	Case-control based	Custom Infinium Genotyping Beadchips platform	SNP-array	TABLE III Anorexia Nervosa With No Binge Eating (N=687), Top 25 SNP Associations (Sorted by Chromosome)	Anorexia Nervosa	Genome
383	20468064	9606	Blood	DSM-IV	Case-control based	Custom Infinium Genotyping Beadchips platform	SNP-array	ABLE II All Anorexia Nervosa (N=1,085), Top 25 SNP Associations (Sorted by All AN Trend P) and Comparative Results for the Top 25 SNPs in the AN No Binge (n=687) and Restricting AN (n=421) Analyses	Anorexia Nervosa	Genome
384	20468064	9606	Blood	DSM-IV	Case-control based	Custom Infinium Genotyping Beadchips platform	SNP-array	TABLE IV Restricting Anorexia Nervosa Only (N=421), Top 25 SNP Associations (Sorted by Chromosome)	Anorexia Nervosa	Genome
385	20489179	9606	Blood	DSM-IV 	Case-control based	aCGH//SNP-array	aCGH//SNP-array	Table 2. CNVRs statistically overrepresented in schizophrenia cases and replicated in an independent case-control cohort	Schizophrenia	Genome
386	20489179	9606	Blood	DSM-IV	Case-control based	aCGH//Affymetrix GeneChip//Illumina BeadChip	aCGH//SNP-array	Table 1.GWA of SNP genotypes from 1,067 schizophrenia cases and 1,304 controls	Schizophrenia	Genome
387	20489179	9606	Blood	DSM-IV	Case-control based	aCGH//Affymetrix GeneChip//Illumina BeadChip	aCGH//SNP-array	Table 2. CNVRs statistically overrepresented in schizophrenia cases and replicated in an independent case-control cohort	Schizophrenia	Genome
388	20520601	9606	Blood	NA	Case-control based	TaqMan//PCR-RFLP	TaqMan//PCR-RFLP	Table 3 Genotype Distributions of ADORA2A Polymorphisms and their Association with Caffeine-Induced Anxiety	Caffeine Use Disorder	Genome
389	20528957	9606	Blood	DSM-IV	Case-control based	Affimetrix SNP Array 6.0	SNP-array	The strongest evidence for association was found for several SNPs in a 317 kb region encompassing the uncharacterized gene KIAA0564 (e.g. rs9566845 (OR=4.98 (95%CI: 2.6-9.48), p=7.7 <U+00C3>—10-8) and rs9566867 (p=8.2 <U+00C3>—10-8)).	Bipolar Disorder	Genome
390	20531469	9606	Blood//Buccal swabs//Cell lines	ADI-R//ADOS	Case-control based	SNP-array//qPCR	SNP-array//qPCR	Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P=0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P=3.4 x 10(-4)).(Supplementary table 7a. Rare de novo CNVs confirmed experimentally)	Autism Spectrum Disorder	Genome
391	20531469	9606	Blood//Buccal swabs//Cell lines	ADI-R//ADOS	Case-control based	SNP-array//qPCR	SNP-array//qPCR	Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P=0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P=3.4 x 10(-4)).(Supplementary Table 7b. Rare inherited CNVs confirmed xperimentally)	Autism Spectrum Disorder	Genome
392	20531469	9606	Blood//Buccal swabs//Cell lines	ADI-R//ADOS	Case-control based	SNP array//qPCR	SNP-array//qPCR	Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P=0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P=3.4 x 10(-4)).(Supplementary table 7a. Rare de novo CNVs confirmed experimentally)	Autism Spectrum Disorder	Genome
393	20531469	9606	Blood//Buccal swabs//Cell lines	ADI-R//ADOS	Case-control based	SNP array//qPCR	SNP-array//qPCR	Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P=0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P=3.4 x 10(-4)).(Supplementary Table 7b. Rare inherited CNVs confirmed xperimentally)	Autism Spectrum Disorder	Genome
394	20554694	9606	Blood	DSM-IV	Case-control based	TaqMan Genotyping Assay	TaqMan	ARNTL rs6486120 T(+) allelic status (P=0.0007, q=0.17), ADCYAP1 rs2856966 GG genotype (P=0.0006, q=0.17) and VIP CC haplotype (rs3823082-rs688136) (P=0.0006) were suggestively associated with alcohol consumption in socially drinking controls. ARNTL2 GT haplotype (rs7958822-rs4964057) associated suggestively with alcohol abuse diagnosis (P=0.0013). (Table 2. Associations with P-values <0.05)	Alcohol Use Disorder	Genome
395	20579744	9606	Blood	NA	Case-control based	NA	qPCR	We detected a statistically significant positive association between miR-30e ss178077483 and MDD (allelic P=0.0287; genotypic P=0.0275).	Major Depressive Disorder	Genome
396	20585324	9606	Blood	DSM-IV	Case-control based	Illumina Human 1M beadchip	SNP-array	Table 2 SNPs yielding P<1<U+00C3>—10-5 with either CD symptom count or CD case status	Conduct Disorder	Genome
397	20585324	9606	Blood	DSM-IV	Case-control based	Illumina Human 1M beadchip	SNP-array	Table 2. SNPs yielding P<1<U+00C3>—10-8 with either CD symptom count or CD case status	Conduct Disorder	Genome
398	20585324	9606	Blood	DSM-IV	Case-control based	Illumina Human 1M beadchip	SNP-array	Table 2. SNPs yielding P<1<U+00C3>—10-6 with either CD symptom count or CD case status	Conduct Disorder	Genome
399	20585324	9606	Blood	DSM-IV	Case-control based	Illumina Human 1M beadchip	SNP-array	Table 2. SNPs yielding P<1<U+00C3>—10-7 with either CD symptom count or CD case status	Conduct Disorder	Genome
400	20615438	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	An interesting observation is that all three SNPs of MET (rs1858830, rs38845 and rs38841) shown to be associated with autism in three independent studies including the present one, are located towards the 5'end of the gene at a span of 9.4 kb.	Autism Spectrum Disorder	Genome
401	20626912	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	Then we statistically analyzed the genetic associations between the SNPs and schizophrenia, finding a genetic association between both rs1126667 and rs1042357 and schizophrenia, in the recessive model (p=0.015 and 0.015, respectively). We also found an association between rs434473 and negative symptoms, defined through a factor analysis of the OPCRIT data (p=0.040).	Schizophrenia	Genome
402	20649982	9606	Blood//Brain	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	Finally, when patients with auditory hallucinations were compared with patients without hallucinations (see Additional file 6), a significant association was found for SNP rs2253478 and SNP rs1456031 in genotypic frequencies and for SNP rs2396753 in both, genotypic and allelic frequencies.	Schizophrenia	Genome
403	20649982	9606	Blood//Brain	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	When comparing patients with auditory hallucinations versus controls (see Additional file 5), significant associations were found for SNP rs2396753 and SNP rs17137124. However, after Bonferroni correction, the significant associations were also lost.	Schizophrenia	Genome
404	20649982	9606	Blood//Brain	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	Finally, when patients with auditory hallucinations were compared with patients without hallucinations (see Additional file 6), a significant association was found for SNP rs2253478 and SNP rs1456031 in genotypic frequencies and for SNP rs2396753 in both, genotypic and allelic frequencies. However, once again, after Bonferroni correction, the significance disappeared in all cases.	Schizophrenia	Genome
405	20649982	9606	Brain	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	Finally, when patients with auditory hallucinations were compared with patients without hallucinations (see Additional file 6), a significant association was found for SNP rs2253478 and SNP rs1456031 in genotypic frequencies and for SNP rs2396753 in both, genotypic and allelic frequencies.	Schizophrenia	Genome
406	20649982	9606	Blood//Brain	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	First, we conducted the single SNP association analysis. When all patients were included, we observed a significant association for the SNP rs10447760 at allelic frequencies, although this association did not remain after applying the conservative Bonferroni correction.	Schizophrenia	Genome
407	20656788	9606	Blood	NA	Case-control based	NA	qPCR	We found a significant association between the T allele of the rs76481776 polymorphism in the pre-miR-182 and late insomnia in MD patients.	Insomnia Disorder	Genome
408	20662941	9606	Blood	ADI-R//ADOS-G	Case-control based	Sequenom MassARRAY	MassARRAY	Table 1: Transmission disequilibrium test results of significantly associated NTRK2 markers with autism in the 469 trio dataset	Autism Spectrum Disorder	Genome
409	20663923	9606	Blood	ADI-R//ASDS	Family based	Human 1M-single Infinium BeadChip array	SNP-array	They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.	Autism Spectrum Disorder	Genome
410	20663923	9606	Blood	ADI-R//ASDS	Family based	Human 1M-single Infinium BeadChip array	SNP-array	Moreover, in a combined analysis of the AGP and AGRE data, we observe three associations that cross the P-value threshold: for verbal individuals, for SNPs rs3784730 (in ST8SIA2) and rs2196826 (in PLD5); and, for maternal parent of origin, rs9532931 (in a gene for an uncharacterized predicted protein KIAA0564).	Autism Spectrum Disorder	Genome
411	20663923	9606	Blood	ADI-R//ASDS	Family based	Human 1M-single Infinium BeadChip array	SNP-array	In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P<5<U+00C3>—10-8.	Autism Spectrum Disorder	Genome
412	20678243	9606	Blood	ADI-R	Case-control based	TaqMan Assay	TaqMan	Table 1 Risk allele frequency (defined as the allele associated with autism).	Autism Spectrum Disorder	Genome
413	20679588	9606	Blood	NA	Case-control based	NA	NA	Our data demonstrate that rs1006737 or genetic variants in linkage disequilibrium with it are functional in the human brain and provide a neurogenetic risk mechanism for bipolar disorder backed by genomewide evidence	Bipolar Disorder	Genome
414	20684831	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	Table 1 Genotype and Allelic Distribution of the SEMA3D SNPs in Japanese Patients with Schizophrenia, and Controls	Schizophrenia	Genome
415	20691406	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	Table 1 Rare Deletions >500 kb in Cases and Controls	Schizophrenia	Genome
416	20691406	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Table 1 Rare Deletions >500 kb in Cases and Controls	Schizophrenia	Genome
417	20691427	9606	Saliva	DSM-IV	Case-control based	SNP Array	SNP-array	Table 3 The SNP Component Identified by Parallel Independent Component Analysis Linked with the Structural Components (A and B)	Schizophrenia	Genome
418	20708845	9606	Saliva	K-SADS-PL//DSMa€“IV	Case-control based	NA	Genotyping	More specifically, in a sample of 92 Caucasian adolescent girls (9-14 years old), we examined whether adverse parental environment, operationalized as mothers' history of recurrent major depressive disorder, interacts with the rs2254298 SNP on the OXTR gene to predict daughters' symptoms of depression and anxiety.	Anxiety Disorder	Genome
419	20713499	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	The strongest result was seen for a single nucleotide polymorphism near the adrenomedullin (ADM) gene (rs6484218, p=3.93<U+00C3>—10-8), with the best-fitting model indicating that the effect is specific to bipolar II disorder.	Schizophrenia	Genome
420	20713499	9606	Blood	DSM-IV	Case-control based	Affymetrix GeneChip Human Mapping 500K Array	SNP-array	Table 2 Regions containing SNPs for which the Omnibus GWAS test p< 5<U+00C3>—10-5 and best-fitting models.	Bipolar Disorder	Genome
421	20713499	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	The strongest result was seen for a single nucleotide polymorphism near the adrenomedullin (ADM) gene (rs6484218, p=3.93<U+00C3>—10-8), with the best-fitting model indicating that the effect is specific to bipolar II disorder.	Major Depressive Disorder	Genome
422	20732625	9606	Blood	DSM-IV	Case-control based	Illumina 550K//Perlegen 600K//Affymetrix 500K//Illumina 1M Duo//Meta-analysis	Illumina 550K//Perlegen 600K//Affymetrix 500K//Illumina 1M Duo//Meta-analysis	We used data from four projects: a) the Children's Hospital of Philadelphia (CHOP); b) phase I of the International Multicenter ADHD Genetics project (IMAGE); c) phase II of IMAGE (IMAGE II); and d) the Pfizer-funded study from the University of California, Los Angeles, Washington University, and Massachusetts General Hospital (PUWMa). The final sample size consisted of 2,064 trios, 896 cases, and 2,455 controls. For each study, we imputed HapMap single nucleotide polymorphisms, computed association test statistics and transformed them to z-scores, and then combined weighted z-scores in a meta-analysis.	Attention-Deficit/Hyperactivity Disorder	Genome
423	20732625	9606	Blood	DSM-IV	Case-control based	Illumina 550K//Perlegen 600K//Affymetrix 500K//Illumina 1M	SNP-array	Top 50 hits from the genome-wide attention-deficit/hyperactivity disorder (ADHD) Meta-analysis	Attention-Deficit/Hyperactivity Disorder	Genome
424	20732625	9606	Blood	DSM-IV	Case-control based	Affymetrix 5.0 array//Affymetrix 6.0 array	SNP-array	No genome-wide significant associations were found, although an analysis of candidate genes suggests they may be involved in the disorder.	Attention-Deficit/Hyperactivity Disorder	Genome
425	20732627	9606	Blood	DSM-IV	Case-control based	Affymetrix 5.0 Array	Affymetrix 5.0 Array	We used case-control analyses of 896 cases with DSM-IV ADHD genotyped using the Affymetrix 5.0 array and 2,455 repository controls screened for psychotic and bipolar symptoms genotyped using Affymetrix 6.0 arrays. A consensus SNP set was imputed using BEAGLE 3.0, resulting in an analysis dataset of 1,033,244 SNPs. Data were analyzed using a generalized linear model.	Attention-Deficit/Hyperactivity Disorder	Genome
426	20732627	9606	Blood	DSM-IV	Case-control based	Affymetrix 5.0 array//Affymetrix 6.0 array	SNP-array	No genome-wide significant associations were found. The most significant results implicated the following genes: PRKG1, FLNC, TCERG1L, PPM1H, NXPH1, PPM1H, CDH13, HK1 and HKDC1.	Attention-Deficit/Hyperactivity Disorder	Genome
427	20732949	9606	Brain	DSM-IV	Case-control based	NA	qRT-PCR	Table 1. Link Between Estrogen and Schizophrenia-Related miRNAs	Schizophrenia	Genome
428	20738160	9606	Blood	NA	Case-control based	NA	qRT-PCR	Patients with schizophrenia and with family history showed a significant increase of allele C frequency in rs11136000 in comparison to normal controls (p=0.03).	Schizophrenia	Genome
429	20738160	9606	Blood	NA	Case-control based	NA	qRT-PCR	In addition, the C allele frequency was also higher in patients with negative symptoms (p=0.04). In contrast, allele and genotype frequencies of rs3851179 did not show significant differences between patients and normal subjects or between patients with different symptoms.	Schizophrenia	Genome
430	20738857	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Table 2 Distribution of genotypes and allele frequencies of TPH2 rs7305115 polymorphism	Major Depressive Disorder	Genome
431	20750581	9606	Blood//Cell lines//Saliva	DSM-IV-TR	Case-control based	SNP-array	SNP-array	Overall, we find large de novo CNVs carry substantial risk (OR=3.55; CI =2.16-7.46, p=6.9脙鈥	Autism Spectrum Disorder	Genome
432	20750581	9606	Blood//Cell lines//Saliva	DSM-IV-TR	Case-control based	SNP-array	SNP-array	TABLE 3. Genes Contributing to the Nervous System Gene Set Results for Rare Genome-Wide Exonic Duplications Showing Significant Enrichment in the 22q11.2DS-Schizophrenia Group)	Schizophrenia	Genome
433	20750581	9606	Blood//Cell lines//Saliva	DSM-IV-TR	Case-control based	Illumina Imv//Illumina IMv3 Duo Bead-arrays	SNP-array	TABLE 3. Genes Contributing to the Nervous System Gene Set Results for Rare Genome-Wide Exonic Duplications Showing Significant Enrichment in the 22q11.2DS-Schizophrenia Group)	Schizophrenia	Genome
434	20750581	9606	Blood//Cell lines//Saliva	DSM-IV-TR	Case-control based	Illumina Imv//Illumina IMv3 Duo Bead-arrays	SNP-array	Overall, we find large de novo CNVs carry substantial risk (OR=3.55; CI =2.16-7.46, p=6.9<U+00C3>—10-6); estimate the presence of 130-234 distinct ASD-related CNV intervals across the genome; and, based on data from multiple studies, present compelling evidence for the association of rare de novo events at 7q11.23, 15q11.2-13.1, 16p11.2, and Neurexin1.(Table 4, Figure S3).	Autism Spectrum Disorder	Genome
435	20800221	9606	Blood	NEO-PI-R	Case-control based	10K//500K Affymetrix SNP array	SNP-array	Table 1 SardiNIA and BLSA meta-analysis of association results for trait depression.	Depressive Disorder	Genome
436	20819981	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	Table. Neurocognitive Performance Associated With CPLX2 SNPs	Schizophrenia	Genome
437	20824207	9606	Blood//Cell lines(Lymphoblastoid cells/Fibroblasts)		Case-control based	Microarray//SNP-array	Microarray//SNP-array	High-density SNP microarrays were used to determine genome wide copy number in 42 individuals: 7 with confirmed alterations in the WS region but atypical clinical phenotypes, 31 with ID and/or MCA, and 4 controls. (Table S5. List of statistically identified CNVs)	Intellectual Disability	Genome
438	20824207	9606	Blood//Cell lines(Lymphoblastoid cells/Fibroblasts)	NA	Case-control based	High-density SNP microarrays//SNP arrays	Microarray//SNP-array	High-density SNP microarrays were used to determine genome wide copy number in 42 individuals: 7 with confirmed alterations in the WS region but atypical clinical phenotypes, 31 with ID and/or MCA, and 4 controls. (Table S5. List of statistically identified CNVs)	Intellectual Disability	Genome
439	20825370	9606	Blood	DSM-IV	Case-control based	Array	SNP-array	In the case-control study, two SNPs (rs12666974 and rs3779262) showed a significant association with autism (P=0.00064 and 0.00046 respectively).	Autism Spectrum Disorder	Genome
440	20842464	9606	Blood	DSM-IV-TR	Case-control based	PCR-RFLP	PCR-RFLP	We found a trend towards over-representation of TNFR2 676G in the patients compared to the controls (p=0.19 and 0.09 respectively).	Paranoid Schizophrenia	Genome
441	20847599	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	As shown in Table I, no association with PD was detected with the rs2746071 (p=0.510), rs2746072 (p=0.303), rs12566194 (p=0.510), rs4606 (p=0.109), and rs3767488 (p=0.466).	Panic Disorder	Genome
442	20850223	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Specifically, carriers of the rs34535804*Aa€”rs488133*Ca€”rs9478245*Ca€”rs2234693*Ca€”rs9340799*G haplotype, a combination of functional alleles related with higher ERa expression, showed a reduced risk of suffering from these particular obsessive-compulsive symptoms.	Obsessive Compulsive Disorder	Genome
443	20850223	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Nevertheless, on analyzing OCD subphenotypes, SNP rs34535804 in ESR1 and a five SNPs haplotype, located at the 5a€<U+2122> end of intron 1 of ESR1, were associated with the presence of contamination obsessions and cleaning compulsions.	Obsessive Compulsive Disorder	Genome
444	20888579	9606	Blood	DSM-IV-TR	Case-control based	NA	Genotyping	Table 1 Case-control association study between autism and 6 genes in 330 patients and 490 sex-matched controls. Results of single-marker analysis using the Cochran-Armitagea€<U+2122>s Trend Test are shown. Dominant and recessive models are considered only for SNPs displaying a nominal association (P<0.05).	Autism Spectrum Disorder	Genome
445	20923434	9606	Blood	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	Significant differences in the genotype (P=0.001) and allele (P=0.0025) frequencies of rs1852469 (located 5a€2 upstream of the ATG initiator codon) were found between patients and controls.	Speech Sound Disorder	Genome
446	20932654	9606	Blood	SHIM	Case-control based	Affymetrix v6.0 arrays	SNP-array	Several other SNPs were associated with ED upon initial statistical testing, but p-values for these associations increased above the threshold of significance after applying the conservative Bonferroni correction for multiple comparisons (Table 2).	Erectile Disorder	Genome
447	21035823	9606	Blood	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	Based on a recessive mode of inheritance we observed some evidence for association of the G/G genotype at SNP rs10096097 with AN (nominal two-sided p=0.031).	Anorexia Nervosa	Genome
448	21035823	9606	Blood	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	Notably, a trend towards deviation from HardyeWeinberg equilibrium was observed for genotype frequencies of SNPs rs10096097 and rs13272159 in AN cases (p=0.002 and p=0.016,respectively) but not in controls (p=0.43 and p=0.48, Table 1).	Anorexia Nervosa	Genome
449	21040459	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	In this study, we investigated the relationship between the single-nucleotide polymorphism rs1344706 (A/C, A=risk allele) in ZNF804A and attention in 200 healthy volunteers. We used the attention network test, which was designed to separate the three main components of attention (alerting, orienting and executive control).	Schizophrenia	Genome
450	21040459	9606	Blood	DSM-IV	Case-control based	NA	qPCR	In this study, we investigated the relationship between the single-nucleotide polymorphism rs1344706 (A/C, A=risk allele) in ZNF804A and attention in 200 healthy volunteers. We used the attention network test, which was designed to separate the three main components of attention (alerting, orienting and executive control).	Bipolar Disorder	Genome
451	21044986	9606	Blood	DSM-IV//NINCDSa€“ADRDA	Case-control based	NA	qPCR	Table 1. Allele and genotype association analysis between VaD and control	Vascular Neurocognitive Disorder	Genome
452	21049181	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	The distribution of the alleles and genotypes of the studied polymorphism was investigated in a sample of 235 patients and 834 controls matched by gender and age. There were statistical differences in the allelic (x2=5.97, 1d.f. , p=0.01, OR=1.33-1.05<OR<1.69) and genotypic (x2=6.56, 2d.f. , p=0.03) distributions between patients and controls. Thus the SLC6A3 A1343G polymorphism was associated to the SCZ phenotype in the investigated sample.	Schizophrenia	Genome
453	21055719	9606	Blood	DSM-IV 	Case-control based	SNP-array//FISH//qPCR	SNP-array//FISH//qPCR	Table 3 Recurrent CNVs Identified across ASD and Schizophrenia	Autism Spectrum Disorder	Genome
454	21055719	9606	Blood	DSM-IV 	Case-control based	SNP-array//FISH//qPCR	SNP-array//FISH//qPCR	Table 3 Recurrent CNVs Identified across ASD and Schizophrenia	Schizophrenia	Genome
455	21055719	9606	Blood	DSM-IV	Case-control based	Array//FISH//qPCR	SNP-array//FISH//qPCR	Table 3 Recurrent CNVs Identified across ASD and Schizophrenia	Schizophrenia	Genome
456	21055719	9606	Blood	DSM-IV	Case-control based	Array//FISH//qPCR	SNP-array//FISH//qPCR	Table 3 Recurrent CNVs Identified across ASD and Schizophrenia	Autism Spectrum Disorder	Genome
457	21079607	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	Table2 All list of rare and large(>500kb,<1%) CNVs observed in AN cases	Anorexia Nervosa	Genome
458	21079607	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Table 1 The list of SNP markers that are most significantly associated with AN (P<1*10-5)	Anorexia Nervosa	Genome
459	21079607	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Table2 All list of rare and large(>500kb,<1%) CNVs observed in AN cases	Anorexia Nervosa	Genome
460	21089166	9606	Blood	NA	Case-control based	NA	qPCR	This is the first study that shows the association between 5HTR2A gene polymorphisms and polysymptomatic NE. These results provide further evidence suggesting that genetic variations at 5HTR2A may influence NE treatment response.	Enuresis	Genome
461	21093928	9606	Blood	DSM-IV-TR	Case-control based	NA	qPCR	Compared to normal-eaters, bulimic women were significantly more likely to carry the low-function Bcl1 C allele (CC or CG genotypes), to report a history of childhood abuse and, more importantly, to be positive for both factors.	Bulimia Nervosa	Genome
462	21151189	9606	Blood	DSM-IV//ADI-R	Family based	Illumina HumanHap550 BeadChip	SNP-array	Table 1 Genomewide significant SNPs in joint tests of association and interaction with ASD	Autism Spectrum Disorder	Genome
463	21152026	9606	Blood		Case-control based	SNP-array	SNP-array	Table 1 All associated CNV regions recurrent in MDD cases.	Major Depressive Disorder	Genome
464	21152026	9606	Blood	NA	Case-control based	SNP Array	SNP-array	Table 1 All associated CNV regions recurrent in MDD cases.	Major Depressive Disorder	Genome
465	21168126	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Two SNPs associated with panic disorder: rs6502892 tagging miR-22 (p=.0002), and rs11763020 tagging miR-339 (p=.00008).Other SNPs tagging miR-138-2, miR-488, miR-491, and miR-148a regions associated with different panic disorder phenotypes.(Table 2. Association Analysis of SNPs in miRNA Regions with PD with and without Agoraphobia in the Spanish Population)	Panic Disorder	Genome
466	21178390	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	Rs1799914 of DRD1 revealed a significant association with a lower P-value than the previous stagea€<U+2122>s association result.	Schizophrenia	Genome
467	21178390	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	Analysis of the schizophrenia sample at two SNPs revealed results similar to those found using all cases,rs752306 of DRD4, chi-square=4.745, P=0.029, OR=0.587, CI: 0.362-0.951).	Schizophrenia	Genome
468	21182207	9606	Blood	DSM-IV//ADI-R	Case-control based	Illuminaa€<U+2122>s Human 1M Beadchip	SNP-array	Table I Candidate Genes for Asperger Prioritized by Ranking Strategy in Both Discovery and Validation	Neurodevelopmental Disorders	Genome
469	21184590	9606	Blood//Buccal swabs	DSM-IV-TR	Family based	Sequenom MassARRAY	MassARRAY	TABLE I Single marker SNP analysis of DLGAP3 in TS	Tourette's Disorder	Genome
470	21184590	9606	Blood//Buccal swabs	DSM-IV-TR	Family based	Sequenom MassARRAY	MassARRAY	Nominally significant associations were identified between TS and rs11264126 and two haplotypes containing rs11264126 and rs12141243. Secondary analyses demonstrated that these results cannot be explained by the presence of comorbid OCD or TTM in the sample. Although none of these results remained significant after correction for multiple hypothesis testing, DLGAP3 remains a promising candidate gene for TS.	Tourette's Disorder	Genome
471	21184590	9606	Blood	DSM-IV-TR	Family based	Sequenom MassARRAY	MassARRAY	In a family-based sample of 289 TS trios, 22 common single nucleotide polymorphisms (SNPs) in the DLGAP3 region were analyzed. Nominally significant associations were identified between TS and rs11264126 and two haplotypes containing rs11264126 and rs12141243.	Obsessive Compulsive Disorder	Genome
472	21184794	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Our results suggest that PDE4B may play a role in the pathophysiology of PD in the Japanese population. (Table 1 Genotype distributions and allele frequencies of the PDE4B gene)	Panic Disorder	Genome
473	21184794	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Table 1 Genotype distributions and allele frequencies of the PDE4B gene	Panic Disorder	Genome
474	21185157	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	Single-marker based analysis shows that of the six HTR2C SNPs, the rs498177 SNP showed a significant association with MetS in female patients, and the C allele was associated with an increased risk of MetS (for genotype TT/TC/CC: MetS vs. non-MetS=50%/27%/23% vs. 69%/28%/3%, and for allele T/C: MetS vs. non-MetS=63%/37% vs. 83%/17%, p=0.0007).	Schizophrenia	Genome
475	21185624	9606	Blood	NA	Case-control based	NA	qPCR	KIBRA SNP rs17070145 T allele is the minor allele in Caucasians, but is the major allele in the African-Americans (Supplementary Table 2). We found a significantly reduced risk of LOAD in our older African-American (AA_OLD) series (Table 1a) associated with the T allele (OR=0.50, 95%CI=0.30-0.83, p=0.007).	Alcohol Use Disorder	Genome
476	21187413	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	In healthy subjects, we found that the interaction between the T allele of DRD2 rs1076560 and the A allele of AKT1 rs1130233 was associated with reduced AKT1 protein levels and reduced phosphorylation of GSK-3<U+00CE>2, as well as with altered cingulate response and reduced behavioral accuracy during attentional processing.	Schizophrenia	Genome
477	21193173	9606	Saliva	DSM-IV	Family based	Custom genotyping assays	Genotyping	Analyses revealed nominal significance (p=.018) for association of SM with rs2710102, which, with rs6944808, was part of a common haplotype associated with SM (permutation p=.022).	Selective Mutism	Genome
478	21216238	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	Significant associations with schizophrenia and the marker rs11544201 (P=0.0028) and the haplotype rs10790212-rs11544201 (global P=0.005) were found.	Schizophrenia	Genome
479	21228604	9606	Blood	DSM-IV//ICD-10	Case report	NA	qRT-PCR	As expected, the frequency of the C allele was only 6%. Since the CC genotype of the rs9960767 polymorphism was present in only 4 patients, subjects with either a CA or a CC genotype were combined and compared against subjects carrying the AA genotype in all subsequent analyses.	Schizophrenia	Genome
480	21248734	9606	Blood	NA	Family based	Infinium II assay	Infinium II assay	Table 4 SNPs that are in LD with associated haplotype	Language Disorder	Genome
481	21257233	9606	Blood	NA	Case-control based	Sequenom MassArray//TaqMan assays	MassArray//TaqMan	Table 5 Odds ratios, 95% confidence intervals, p values and permutation p values for chromosome 9 SNP association in the Manchester FLTD ALS case control cohort	Frontotemporal Neurocognitive Disorder	Genome
482	21264940	9606	Blood	NA	Family based	TaqMan SNP Genotyping Assay	TaqMan	A family-based sibling transmission disequilibrium test showed association of RLS with SNP rs1975197 (P=0.015), but not with rs4626664 (P=0.622).	Restless Legs Syndrome	Genome
483	21281558	9606	Brain	ICD-10	Case-control based	NA	qRT-PCR	Significant interaction effects and explanatory significant post-hoc t tests (* p<0.05, +p<0.1; means S.E.M.). AG/AA, rs41279104 NOS1 exon 1c promoter SNP schizophrenia risk variant. -$-, AG/AA; , GG.	Schizophrenia	Genome
484	21285140	9606	Cell lines(EBV-transformed lymphoblastic)	DSM-IV 	Case-control based	SNP-array	SNP-array	The data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions. These CNVs, as well as 3q29 deletions, are also associated with mental retardation, autism spectrum disorders, and epilepsy.(Table S7: HG18 locations and descriptions of genes in schizophrenia-associated multigenic CNVs)	Schizophrenia	Genome
485	21285140	9606	Cell lines(EBV-transformed lymphoblastic)	DSM-IV 	Case-control based	SNP-array	SNP-array	The data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions. These CNVs, as well as 3q29 deletions, are also associated with mental retardation, autism spectrum disorders, and epilepsy.(Table S7: HG18 locations and descriptions of genes in schizophrenia-associated multigenic CNVs)	Autism Spectrum Disorder	Genome
486	21285140	9606	Cell lines(EBV-transformed lymphoblastic)	DSM-IV	Case-control based	Affymetrix 6.0 array	SNP-array	The data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions. These CNVs, as well as 3q29 deletions, are also associated with mental retardation, autism spectrum disorders, and epilepsy.(Table S7: HG18 locations and descriptions of genes in schizophrenia-associated multigenic CNVs)	Autism Spectrum Disorder	Genome
487	21285140	9606	Cell lines(EBV-transformed lymphoblastic)	DSM-IV	Case-control based	Affymetrix 6.0 array	SNP-array	The data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions. These CNVs, as well as 3q29 deletions, are also associated with mental retardation, autism spectrum disorders, and epilepsy.(Table S7: HG18 locations and descriptions of genes in schizophrenia-associated multigenic CNVs)	Schizophrenia	Genome
488	21295225	9606	Blood	DSM-IV	Case-control based	NA	qPCR	In the OCD group, a significant association was observed between earlier age at onset and the A-T-A-T (rs11583978-rs7541937-rs6662980-rs4652867) haplotype compared with the C-G-G-G haplotype.	Obsessive Compulsive Disorder	Genome
489	21295225	9606	Blood	DSM-IV	Case-control based	NA	qPCR	In the OCD group, a significant association was observed between earlier age at onset and the A-T-A-T (rs11583978-rs7541937-rs6662980-rs4652867) haplotype compared with the C-G-G-G haplotype.	Trichotillomania	Genome
490	21295349	9606	Blood	NA	Case-control based	PCR-LDR	PCR-LDR	We found significant differences in allele distributions of SNP rs10835210 (P<0.001) between the experimental and the control groups.	Specific Phobia	Genome
491	21302340	9606	Blood	DSM-IV 	Case-control based	aCGH	aCGH	TABLE I. Clinically Relevant CNVs Identified With Array-CGH in Patients With ASDs	Autism Spectrum Disorder	Genome
492	21302340	9606	Blood	DSM-IV	Case-control based	aCGH	aCGH	TABLE I. Clinically Relevant CNVs Identified With Array-CGH in Patients With ASDs	Autism Spectrum Disorder	Genome
493	21302347	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	TABLE 2. Case-Control Odds Ratios for Nominally Significant SNPs near DPYSL2	Schizophrenia	Genome
494	21302347	9606	Blood	DSM-IV	Family based	SNP Array	SNP-array	Most recently, in the largest SZ linkage sample to date, a multi-site international collaboration performed a SNP-based linkage scan ( 6,000 SNPs; 831 pedigrees; 121 from Johns Hopkins (JHU)), that showed the strongest evidence for linkage in a 1Mb region of chr 8p21 from rs1561817 to rs9797 (Zmax=3.22, P=0.0004)	Schizophrenia	Genome
495	21302347	9606	Blood	DSM-IV	Family based	SNP Array	SNP-array	Thestrongest associationsignal was for SNP rs7817434 at 26.818 Mb (P<0.000301), located 39 kb on the 50 side of ADRA1A, and 331 kb from the gene STMN4.	Schizophrenia	Genome
496	21302352	9606	Blood	ADI-R//ASDS	Family based	Sequenom iPLEX Gold assay	MassARRAY	Our observations, when taken together with previous findings, suggest that common genetic variation in the GAD1 and DLX genes is unlikely to play a critical role in ASD susceptibility.	Autism Spectrum Disorder	Genome
497	21305692	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	Illumina HumanHap550 BeadChip	SNP-array	The most significant result was for the intronic SNP rs455219 in the gene FAT1 on chromosome 4 (<U+00CE>2=0.70, p=3.04<U+00C3>—10-7).(Table 2)	Bipolar Disorder	Genome
498	21305692	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	Illumina HumanHap550 BeadChip	SNP-array	Table 3 Top regions from the analysis of psychotic symptoms in the GAIN-BP+BiGS+German sample	Bipolar Disorder	Genome
499	21305692	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	Illumina HumanHap550 BeadChip	SNP-array	Table 2 Top regions in the analysis of age at onset in the GAIN-BP+BiGS+German sample	Bipolar Disorder	Genome
500	21305692	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	Illumina HumanHap550 BeadChip	SNP-array	The best result was for the intergenic SNP rs1010376 on chromosome 5 (see Table 3; OR=0.73, p=3.75<U+00C3>—10-6).	Bipolar Disorder	Genome
501	21307845	9606	Blood	DSM-IV//ICD-10	Case-control based	Array	SNP-array	Table 1 Allelic Associations of 11 SNPs Genotyped in KCNJ6, with the MAF of Cases and Controls Shown, Along with <U+00CF><U+2021>2 Values, Raw p-Values, FDR p-Values, and the OR	Alcohol Use Disorder	Genome
502	21343707	9606	Blood	Clinical and neuropathological criteria for frontotemporal dementia(Lund and Manchester Groups)	Family based	NA	qPCR	Herein, we report the finding of the V363I variation in a sporadic early onset frontotemporal dementia patient and in several members of her family.The V363I variation was associated with frontotemporal dementia only in the proband which was also homozygous for the A allele of the progranulin single-nucleotide polymorphism rs9897526 and for methionine at codon 129 of the prion protein gene.	Frontotemporal Neurocognitive Disorder	Genome
503	21346763	9606	Blood	DSM-IV 	Family based	aCGH//SNP-array	aCGH//SNP-array	Table 1 Significant association of four CNV regions with schizophrenia	Schizophrenia	Genome
504	21346763	9606	Blood	DSM-IV	Family based	aCGH//SNP Array	aCGH//SNP-array	Table 1 Significant association of four CNV regions with schizophrenia	Schizophrenia	Genome
505	21350482	9606	Blood	DSM-IV	Case-control based	Affymetrix 6.0 SNP array	SNP-array	A single SNP in a putative oestrogen response element within ADCYAP1R1, rs2267735, predicts PTSD diagnosis and symptoms in females only.	Posttraumatic Stress Disorder	Genome
506	21358712	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	Table 2 Association results for specific CNVs in BD at loci with previous evidence for association with psychiatric disorders	Bipolar Disorder	Genome
507	21358712	9606	Blood	DSM-IV	Case-control based	Illuminaa€<U+2122>s HumanHap550v3 (HH550)//Human610-Quadv1 (H610Q) BeadArrays	SNP-array	Table 2 Association results for specific CNVs in BD at loci with previous evidence for association with psychiatric disorders	Bipolar Disorder	Genome
508	21358714	9606	Blood//Cell lines		Case-control based	SNP-array	SNP-array	A total of 395 inherited CNVs (135 duplications, 256 heterozygous deletions and 4 hemizygous deletions of the X chromosome) were identified in 286 autism subjects that were not present in healthy controls (Supplementary Table 1). 	Autism Spectrum Disorder	Genome
509	21358714	9606	Blood//Cell lines	NA	Case-control based	Human-Hap550 BeadChip	SNP-array	A total of 395 inherited CNVs (135 duplications, 256 heterozygous deletions and 4 hemizygous deletions of the X chromosome) were identified in 286 autism subjects that were not present in healthy controls (Supplementary Table 1).	Autism Spectrum Disorder	Genome
510	21360829	9606	Blood		Family based 	aCGH	aCGH	We identified and validated a de novo 1.5Mb microdeletion of 14q23.2-23.3 in our autistic patient.	Autism Spectrum Disorder	Genome
511	21360829	9606	Blood	NA	Family based	Illumina Human 1M beadchip	SNP-array	Supplemental Table 2. Significance of all SNPs genotyped within the 14q23.2-23.3 deletion region	Autism Spectrum Disorder	Genome
512	21360829	9606	Blood	NA	Family based	aCGH	aCGH	We identified and validated a de novo 1.5Mb microdeletion of 14q23.2-23.3 in our autistic patient.	Autism Spectrum Disorder	Genome
513	21383261	9606	Blood	DSM-IV	Case-control based	qRT-PCR	qRT-PCR	Finally, when we combined all the data from the 3 stages of our schizophrenia study, we found that rs9326555 (P=1.53<U+00C3>—10(-5)), rs10494251 (P=.02), rs1240083 (P=1.52<U+00C3>—10(-4)), rs672607 (P=1.23<U+00C3>—10(-11)), rs688325 (P=2.54<U+00C3>—10(-4)), and rs3766512 (P=.01) were significant.	Schizophrenia	Genome
514	21383261	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	Rs10494251 (P=.04), rs1541187 (P=.04), rs688325 (P=.02), and rs946903 (P=.006) were significant in major depressive disorder.	Major Depressive Disorder	Genome
515	21383261	9606	Blood	DSM-IV	Case-control based	qRT-PCR	qRT-PCR	Moreover, we found that rs672607 was significant in major depressive disorder (P=.001) and bipolar disorder (P=.03).	Schizophrenia	Genome
516	21383261	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	Moreover, we found that rs672607 was significant in major depressive disorder (P=.001) and bipolar disorder (P=.03).	Major Depressive Disorder	Genome
517	21383261	9606	Blood	DSM-IV	Case-control based	qRT-PCR	qRT-PCR	Moreover, we found that rs672607 was significant in major depressive disorder (P=.001) and bipolar disorder (P=.03).	Bipolar Disorder	Genome
518	21390039	9606	Blood	NA	Case-control based	NA	Genotyping	Our first analysis determined that the genotypes at rs6277 and rs6275 did not deviate significantly from Hardy Weinberg equilibrium expectation in either Brazilian (p=0.60, p=0.62) or western European populations (p=0.59, p=0.43).	Childhood-Onset Fluency Disorder	Genome
519	21416264	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Seven SNPs were significantly allelic associated with PD (Table 2, Figs. 1, 2). Two of the markers (rs2242446 and rs747107), located 131 bp upstream to exon 1 and withinintron 1, respectively, were highly significantly associated with PD (P< 0.002). Rs747107 (P=0.0016) remained significantly associated after Bonferroni correction (correction for 29 tests).	Panic Disorder	Genome
520	21438139	9606	Blood	DSM-IV	Family based	TaqMan Assay	TaqMan	Table I Family-based association testing in multiplex families with ASD. (A) All ethnicities are analyzed.	Autism Spectrum Disorder	Genome
521	21438139	9606	Blood	DSM-IV	Family based	TaqMan Assay	TaqMan	Table I Family-based association testing in multiplex families with ASD. (B) Only Caucasians are analyzed.	Autism Spectrum Disorder	Genome
522	21445956	9606	Blood	DSM-IV	Family based	Illumina BeadArray	SNP-array	TABLE I PBAT Analysis Results for SNPs Associated with OCD at P<0.01	Obsessive Compulsive Disorder	Genome
523	21448237	9606	Blood		Case-control based	aCGH	aCGH	We show that individuals with autism are more likely to harbor rare CNVs as small as 10kb, a threshold not previously detectable, and that CNVs in cases disproportionately affect genes involved in transcription, nervous system development, and receptor activity.(Supplementary Tables 1)	Autism Spectrum Disorder	Genome
524	21448237	9606	Blood	NA	Case-control based	aCGH	aCGH	We show that individuals with autism are more likely to harbor rare CNVs as small as 10kb, a threshold not previously detectable, and that CNVs in cases disproportionately affect genes involved in transcription, nervous system development, and receptor activity.(Supplementary Tables 1)	Autism Spectrum Disorder	Genome
525	21450307	9606	Blood//Buccal swabs	DSM-IV	Case-control based	NA	qPCR	This paper provides preliminary data on the relationship between personality disorders and the 5HTTLPR polymorphism. The relationship of the s allele and avoidant PD is consistent with findings of a nonspecific relationship of this polymorphism to anxiety and depressive disorders. Concerning the unusual sexual dimorphic result with OCPD, several hypotheses are presented.	Obsessive Compulsive Disorder	Genome
526	21450307	9606	Blood//Buccal swabs	DSM-IV	Case-control based	NA	Genotyping	The sallele of the 5HTTLPR polymorphism was significantly associated with higher avoidant personality trait scores in the whole sample. Males with the s allele had a significantly lower likelihood of higher obsessive-compulsive personality disorder (OCPD) trait scores, whereas females with the s allele were likely to have higher OCPD personality trait scores.	Obsessive Compulsive Personality Disorder	Genome
527	21457757	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	We investigated an association between the ZNF804A genotype of rs1344706 and schizotypal personality traits using the Schizotypal Personality Questionnaire(SPQ) in 176 healthy subjects.	Schizotypal Personality Disorder	Genome
528	21473668	9606	Blood	DSM-IV//ICD-10	Case-control based	WGS	WGS	Children with ADHD from the International Multicentre ADHD Genetic (IMAGE) study were evaluated with the Parental Account of Children's Symptoms. Genetic association testing was performed in PLINK on 890 probands with genome-wide genotyping data. Bioinformatics enrichment-analysis was performed on highly ranked findings.	Attention-Deficit/Hyperactivity Disorder	Genome
529	21473668	9606	Blood	ICD-10//DSM-IV	Case-control based	WGS	WGS	Children with ADHD from the International Multicentre ADHD Genetic (IMAGE) study were evaluated with the Parental Account of Children's Symptoms. Genetic association testing was performed in PLINK on 890 probands with genome-wide genotyping data. Bioinformatics enrichment-analysis was performed on highly ranked findings.	Attention-Deficit/Hyperactivity Disorder	Genome
530	21473668	9606	Blood	DSM-IV//ICD-10//DCD-Q	Case-control based	WGS	WGS	Children with ADHD from the International Multicentre ADHD Genetic (IMAGE) study were evaluated with the Parental Account of Children's Symptoms. Genetic association testing was performed in PLINK on 890 probands with genome-wide genotyping data. Bioinformatics enrichment-analysis was performed on highly ranked findings.	Attention-Deficit/Hyperactivity Disorder	Genome
531	21473668	9606	Blood	DSM-IV//ICD-10	Case-control based	WGS	WGS	Table III. Top single SNPs with P<10.00E-05 from the GWAS for motor coordination problems in children with ADHD and DCD-Q results.	Attention-Deficit/Hyperactivity Disorder	Genome
532	21473668	9606	Blood	DSM-IV//ICD-10	Case-control based	WGS	WGS	Table III. Top single SNPs with P<10.00E-05 from the GWAS for motor coordination problems in children with ADHD and DCD-Q results.	Developmental Coordination Disorder	Genome
533	21473668	9606	Blood	ICD-10//DSM-IV	Case-control based	NA	Genotyping	Table 3. Top single SNPs with P<1.00E-04 from the GWAS for motor coordination problems in children with ADHD and DCD-Q results. The 24 SNPs showing a significant P-value for one of the DCD-Q results are indicated in bold	Attention-Deficit/Hyperactivity Disorder	Genome
534	21477380	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	Our results showed that four SNPs of NRXN1 gene were significantly associated with schizophrenia (rs10490168: G >A, p=0.017; rs2024513: A >G, p=0.006; rs13382584: T >C, p=0.009; and rs1558852: G >A, p =0.031).	Schizophrenia	Genome
535	21483430	9606	Brain	DSM-IV//ICD-10	Case-control based	SNP Array	SNP-array	Cognitive measures of working memory (rs2793094, p=3.38<U+00C3>—10-4),as well as lifetime history of depression (rs4658966, p=4.33<U+00C3>—10-4; rs12137417, p=4.93<U+00C3>—10-4)and panic (rs12137417, p=7.41<U+00C3>—10-4) were associated with DISC1 sequence variation.	Depressive Disorder	Genome
536	21483430	9606	Brain	DSM-IV//ICD-10	Case-control based	SNP Array	SNP-array	Cognitive measures of working memory (rs2793094, p=3.38<U+00C3>—10-4),as well as lifetime history of depression (rs4658966, p=4.33<U+00C3>—10-4; rs12137417, p=4.93<U+00C3>—10-4)and panic (rs12137417, p=7.41<U+00C3>—10-4) were associated with DISC1 sequence variation.	Panic Disorder	Genome
537	21483430	9606	Brain	DSM-IV//ICD-10	Case-control based	NA	qPCR	Cognitive measures of working memory (rs2793094, p=3.38<U+00C3>—10-4),as well as lifetime history of depression (rs4658966, p=4.33<U+00C3>—10-4; rs12137417, p=4.93<U+00C3>—10-4)and panic (rs12137417, p=7.41<U+00C3>—10-4) were associated with DISC1 sequence variation.	Panic Disorder	Genome
538	21483437	9606	Blood	DSM-IV//DIS-III	Family based	TaqMan Genotyping Assay	TaqMan	Females with the GG genotype for both SNPs and haplotype showed higher left insula activation during reward anticipation compared to the A carriers (rs279858 p=0.027; rs279826 p=0.008; haplotype p=0.023) and remain significant when corrected for family history and age (rs279858 p=0.036; rs279826 p=0.006; haplotype p=0.011) while males did not show genetic differences in activation (all pa€<U+2122>s >0.23) (Table 3).	Alcohol Use Disorder	Genome
539	21489405	9606	Blood	DSM-IV-TR	Case-control based	SNP-array	SNP-array	Table 3 Schizophrenia candidate genes residing in CNVs in Dutch case-control study	Schizophrenia	Genome
540	21489405	9606	Blood	DSM-IV-TR	Case-control based	HumanHap550v3 BeadArray	SNP-array	Table 3 Schizophrenia candidate genes residing in CNVs in Dutch case-control study	Schizophrenia	Genome
541	21490707	9606	Blood	NA	Case-control based	Affymetrix 6.0//Illumina Infinium arrays	SNP-array	Table 2 Genome-wide meta-analytic results for caffeine consumption (P<10-6).	Cocaine Addiction	Genome
542	21490707	9606	Blood	NA	Case-control based	Affymetrix 6.0//Illumina Infinium arrays	SNP-array	The strongest associated SNP (rs4410790//P=2.4<U+00C3>—10-19//Figure S2) is located at 7p21//54 kb upstream of AHR (aryl hydrocarbon receptor).	Cocaine Addiction	Genome
543	21491142	9606	Blood	DSM-IV	Case-control based	NA	qPCR	The results also confirmed that C allele carriers (CC and CT, 53.3%) in this group had higher impairment rates (p=0.05) than TT carriers (33.3%). These findings support the theory that rs6280TC influences the frequency of CI in HIV-positive/METH-positive males.	Neurocognitive Disorder Due to HIV	Genome
544	21507613	9606	Blood	DSM-IV-TR	Case-control based	NA	NA	The superior prefrontal network (Figure 1; Table 3) significantly correlated (r=.244, p=.010)with a SNP component that showed the strongest loading for DCDC2 (rs1087266).The occipital network (Figure 1; Table 4) significantly correlated (r=.293, p=.002) with the same SNP component identified above (DCDC2, rs1087266).The temporal network (Figure 1, Table 5) also significantly correlated (r=.252, p=.008) with the same SNP component identified above (DCDC2, rs1087266).	Schizophrenia	Genome
545	21519539	9606	Blood	K-ADOS//K-ADI-R	Case-control based	Affymetrix SNP Array 5.0	SNP-array	Table 2 The top 30 hits from the TDT results	Autism Spectrum Disorder	Genome
546	21519539	9606	Blood	K-ADOS//K-ADI-R	Case-control based	Affymetrix SNP Array 5.0	SNP-array	Table 2 The top 30 hits from the TDT results	Language Disorder	Genome
547	21520241	9606	Blood	NA	Case-control based	NA	WES	We identified 3 novel, nonsynonymous single nucleotide variants in the MRPL3, DNAJC13, and OFCC1 genes that segregated with chronic tic phenotype. These variants were not present in 100 control subjects or in dbSNP/1000 Genomes databases. A novel variant in the 5' untranslated region of the OFCC1 gene was found in 2 TS-CTD patients from a different pedigree.(TABLE: Novel, Nonsynonymous Variants Perfectly Segregating With Tourette Syndrome/Chronic Tic Disorder Phenotype)	Tourette's Disorder	Genome
548	21525861	9606	Blood	DSM-IV	Case-control based	NA	qPCR	The minor T allele of rs27072 was significantly associated with bipolar disorder in two separate cohorts (odds ratio 1.65-2.11), whereas no association was observed with schizophrenia in two populations.	Bipolar Disorder	Genome
549	21526376	9606	Blood	DSM-IV	Case-control based	ABI PRISM 3730XL	Direct sequencing	We genotyped two promoter SNPs [rs2119882 (-184T/C) of MTNR1A and rs4753426 (-1193C/T) of MTNR1B] using direct sequencing in 289 schizophrenia patients and 505 control subjects. We found that rs2119882 of MTNR1A was associated with schizophrenia in recessive model [CC vs. TT/TC, p=0.013, odds ratio (OR)=1.69, 95% confidence interval (CI)=1.12-2.55]. Interestingly, in an analysis of clinical phenotypes, we found that rs2119882 of MTNR1A was also associated with insomnia symptoms of schizophrenia (recessive model, p=0.010, OR=2.24, 95% CI=1.21-4.14), but not with hypersomnia symptoms as determined using the Operational Criteria checklist. However, rs4753426 of MTNR1B was not associated with either schizophrenia or clinical phenotypes.	Schizophrenia	Genome
550	21529705	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Three SNPs showed nominal association in our population (rs12905211, rs3859014, rs498005). SNP rs12905211 maintained significance after Bonferroni correction, with allele T and haplotype CTC overrepresented in cases. These findings suggest HCN4 as a genetic susceptibility factor for mood and anxiety disorders; however, these results will require replication using a larger sample.	Obsessive Compulsive Disorder	Genome
551	21536970	9606	Blood	NA	Case-control based	Microarray	Microarray	These data suggest that the inheritance of GR sensitivity-moderating FKBP5 polymorphisms can determine specific types of hypothalamic-pituitary-adrenal axis dysfunction within PTSD, which are also reflected in gene-expression changes of a subset of GR-responsive genes. Thus, these findings indicate that functional variants in FKBP5 are associated with biologically distinct subtypes of PTSD.	Posttraumatic Stress Disorder	Genome
552	21550210	9606	Brain	Others	Case-control based	RT-PCR	RT-PCR	We found strong evidence for epigenetic fine-tuning of HTR2A expression. In general, the expression of HTR2A in individuals carrying the C allele of T102C (or G allele of -1438A/G polymorphism) was higher than TT genotype. Interestingly, promoter DNA of HTR2A was hypermethylated at and around the -1438A/G polymorphic site, but was hypomethylated at and around T102C polymorphic site in SCZ and BD compared to the controls. Furthermore, epigenetic down-regulation of HTR2A was associated with early age of disease onset in SCZ and BD.	Bipolar Disorder	Genome
553	21556359	9606	Blood	ADI-R	Case-control based	Illumina HumanHap550 BeadChip	SNP-array	Table 1 Language QTL associated with ASD subtypes	Autism Spectrum Disorder	Genome
554	21556359	9606	Blood	ADI-R	Case-control based	Illumina HumanHap550 BeadChip	SNP-array	Table 6 Highly significant SNPs associated with ASD subtypes.	Autism Spectrum Disorder	Genome
555	21556359	9606	Blood	ADI-R	Case-control based	Illumina HumanHap550 BeadChip	SNP-array	Table 3 Play skills QTL associated with ASD subtypes.	Autism Spectrum Disorder	Genome
556	21556359	9606	Blood	ADI-R	Case-control based	Illumina HumanHap550 BeadChip	SNP-array	Table 5 Social development QTL associated with ASD subtypes.	Autism Spectrum Disorder	Genome
557	21556359	9606	Blood	ADI-R	Case-control based	Illumina HumanHap550 BeadChip	SNP-array	Table 2 Nonverbal communication QTL associated with ASD subtypes.	Autism Spectrum Disorder	Genome
558	21556359	9606	Blood	ADI-R	Case-control based	Illumina HumanHap550 BeadChip	SNP-array	Table 4 Insistence on sameness QTL associated with ASD subtypes.	Autism Spectrum Disorder	Genome
559	21569632	9606	Blood	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	We found three SNPs showed significant associations with autism (rs4366301: G>C, Z=2.872, p=0.004; rs11585959: T>C, Z=2.199, p=0.028; rs6668845: A>G, Z=2.326, p=0.02).	Autism Spectrum Disorder	Genome
560	21623652	9606	Blood	NA	Case-control based	Illumina 610K beadarray	SNP-array	One (rs1842129) of the 10 SNPs approached significance (P=.05) but no support was found for the remaining 9 SNPs or the SNP set itself. Results indicate that these SNPs are not associated with reading ability in an Australian population.	Developmental Dyslexia	Genome
561	21625751	9606	Blood	DSM-IV	Case-control based	NA	qPCR	In the present paper, we investigated the 5HTTLPR and STin2 polymorphisms in the promoter region of the serotonin transporter gene (SLC6A4), the G861C polymorphism (rs6296) of the serotonin receptor 1D beta (HTR1B), the T102C (rs6113) and C516T (rs6305) polymorphisms of the serotonin receptor gene subtype 2A (HTR2A), the DAT UTR, DAT intron 8 and DAT intron 14 of the dopamine transporter gene (SLC6A3), the Val-158-Met (rs4680) polymorphism of the COMT and the silent mutation G1287A (rs5569) in the norepinephrine transporter gene (SLC6A2). We did not find association between the studied polymorphisms and clomipramine response in our sample.	Obsessive Compulsive Disorder	Genome
562	21651830	9606	Blood	DSM-IV	Family based	Perlegen 600K	Perlegen 600K	Family-based association analysis for ADHD using 846 ADHD probands and their parents was performed using the PLINK program, and parent-of-origin effects were studied using a Z score for the difference in paternal versus maternal odds ratios.	Attention-Deficit/Hyperactivity Disorder	Genome
563	21651830	9606	Blood	DSM-IV	Family based	Perlegen (600K) genome-wide association platform	SNP-array	Table 1 Twenty-two single nucleotide polymorphisms within genes showing parent-of-origin effects with p<0.001	Attention-Deficit/Hyperactivity Disorder	Genome
564	21651830	9606	Blood	DSM-IV	Family based	Perlegen (600K) genome-wide association platform	SNP-array	Table 2 Thirty-three single nucleotide polymorphisms showing parent-of-origin effects with p<0.05	Attention-Deficit/Hyperactivity Disorder	Genome
565	21658581	9606	Blood//Cell lines//Saliva	DSM-IV-TR	Case-control based	SNP-array	SNP-array	From the total of 219 confirmed de novo events, we derived an estimate of 234 distinct genomic regions contributing to large ASD-related de novo structural variations.(Supplementary Material 01)	Autism Spectrum Disorder	Genome
566	21658581	9606	Blood//Cell lines//Saliva		Case-control based	SNP-array	SNP-array	Overall, we find large de novo CNVs carry substantial risk (OR=3.55; CI =2.16-7.46, p=6.9脙鈥	Autism Spectrum Disorder	Genome
567	21658581	9606	Blood//Cell lines//Saliva	DSM-IV-TR	Case-control based	Illumina 1M arrays	SNP-array	From the total of 219 confirmed de novo events, we derived an estimate of 234 distinct genomic regions contributing to large ASD-related de novo structural variations.(Supplementary Material 01)	Autism Spectrum Disorder	Genome
568	21658581	9606	Blood//Cell lines//Saliva	NA	Case-control based	Illumina Imv//Illumina IMv3 Duo Bead-arrays	SNP-array	Overall, we find large de novo CNVs carry substantial risk (OR=3.55; CI =2.16-7.46, p=6.9<U+00C3>—10-6); estimate the presence of 130-234 distinct ASD-related CNV intervals across the genome; and, based on data from multiple studies, present compelling evidence for the association of rare de novo events at 7q11.23, 15q11.2-13.1, 16p11.2, and Neurexin1.(Table 3 CNVs in genes and regions previously associated with ASD.)	Autism Spectrum Disorder	Genome
569	21658582	9606	Blood		Case-control based	aCGH	aCGH	In total, we observed 75 de novo events in 68 probands (7.9% of all probands) and 19 events in 17 sibs(2.0% of all sibs).(Table S1)	Autism Spectrum Disorder	Genome
570	21658582	9606	Blood	NA	Case-control based	aCGH	aCGH	In total, we observed 75 de novo events in 68 probands (7.9% of all probands) and 19 events in 17 sibs(2.0% of all sibs).(Table S1)	Autism Spectrum Disorder	Genome
571	21666548	9606	Blood	NA	Case-control based	NA	Genotyping	Although the polymorphism in the HCRTR1 did not differ between groups, the Iso allele of the HCRTR2 polymorphism was significantly more frequent in patients than in controls.	Panic Disorder	Genome
572	21668797	9606	Blood	DSM-IV	Case-control based	Illumina Human 1M beadchip	SNP-array	Table 1 Association results of top 30 SNPs from a genomewide association study of 708 DSM-IV cannabis dependence cases and 2346 controls from SAGE.	Cannabis Use Disorder	Genome
573	21699407	9606	Blood	DSM-IV	Family based	NA	qPCR	We evaluated the genetic contribution of the IL10-592A/C polymorphism in 108 trios with Tourette's syndrome (TS) including all their parents in a Chinese Han population by using the transmission disequilibrium test and haplotype relative risk design; no evidence for association or linkage disequilibrium was found between IL10-592A/C polymorphism and TS.	Tourette's Disorder	Genome
574	21713406	9606	Blood	NA	Case-control based	NA	PCR-RFLP	No association was found between the two polymorphisms and SCZ either in cases or in controls. SCZ patients with family history showed significant increase of the G allele frequency of rs2910164 in comparison to those without (P=0.018). The CC genotype frequency of rs3746444 was also higher in the patients having hallucinations than those without hallucinations (P=0.012).	Schizophrenia	Genome
575	21747397	9606	Blood	DSM-IV	Case-control based	Illumina HumanHap550v3 BeadArrays	SNP-array	The SNP rs11819869 is located in the gene AMBRA1, in a region of strong linkage disequilibrium (LD) that spans B360 kb (r2 >0.8 based on HapMap Phase 2 CEU data,27 Supplementary Figure S3).	Schizophrenia	Genome
576	21747397	9606	Blood	DSM-IV	Case-control based	Illumina HumanHap550v3 BeadArrays	SNP-array	The best result (PGWAS =4.50*10-7) was for the SNP rs11154491, which is located in an intron of the Rho GTPase activating protein 18 gene on chromosome 6 (ARGHAP18, Supplementary Figure S2).	Schizophrenia	Genome
577	21767209	9606	Blood	DSM-IV	Family based	TaqMan SNP Genotyping Assay	TaqMan	We found no association in the ANK3 markers, but the rs10994336 variant was nominally associated with non-psychotic BPD (P=0.046).	Bipolar Disorder	Genome
578	21767209	9606	Blood	DSM-IV	Family based	TaqMan SNP Genotyping Assay	TaqMan	In the whole sample, we found a nominal association in ZNF804A (rs1344706, P=0.046), and a trend in CACNA1C (rs1006737, P=0.077).	Bipolar Disorder	Genome
579	21767209	9606	Blood	DSM-IV	Family based	TaqMan SNP Genotyping Assay	TaqMan	Exploratory analysis revealed the rs1344706 variant was also implicated in suicide-attempt behaviour (P=0.038).	Bipolar Disorder	Genome
580	21769101	9606	Blood	DSM-II-R//DSM-IV	Family based	SNP Array	SNP-array	Results that met significant criteria are found at 6q21 for ASM1 (Pairs Lod 3.4 for rs1046943 at 119 cM) and 9q21 for ASM1 (Pairs Lod 3.4 for rs722642 at 78 cM).Suggestive results were found in 10 additional regions. No results were significant after correcting for multiple analyses.	Bipolar Disorder	Genome
581	21779176	9606	Blood	NA	Case-control based	Affymetrix Genome-Wide Human SNP Arrays 5.0	SNP-array	Herein, we identified six RLS susceptibility loci of genome-wide significance, two of them novel: an intergenic region on chromosome 2p14 (rs6747972, P=9.03<U+00C3>—10(-11), OR=1.23) and a locus on 16q12.1 (rs3104767, P=9.4<U+00C3>—10(-19), OR=1.35) in a linkage disequilibrium block of 140 kb containing the 5'-end of TOX3 and the adjacent non-coding RNA BC034767.	Restless Legs Syndrome	Genome
582	21780254	9606	Blood	DSM-IV//ICD-10	Case-control based	Custom Infinium Genotyping Beadchips platform	SNP-array	Table 2 Results of the single nucleotide polymorphism (SNP) with the lowest adjusted p-value from a total of 5151 SNPs from association analyses for each quantitative phenotype.	Anorexia Nervosa	Genome
583	21790672	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	Table 2. Logistic Regression Analysis of Identified Common CNV Regions (Frequency >0.01) with Risk of Alcoholism in Korean Subject (n=1, 138)	Alcohol Use Disorder	Genome
584	21790672	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Table 2. Logistic Regression Analysis of Identified Common CNV Regions (Frequency >0.01) with Risk of Alcoholism in Korean Subject (n=1, 138)	Alcohol Use Disorder	Genome
585	21791550	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Table 2. Previously identified variants showing genome-wide significant association with schizophrenia	Schizophrenia	Genome
586	21791550	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Table 1. Novel variants showing genome-wide significant association with schizophrenia	Schizophrenia	Genome
587	21796100	9606	Blood	NA	Case-control based	WGS	WGS	Table 3 Meta-Analysis of the GalR1 Gene Identifies Variants Associated with ND	Tobacco Use Disorder	Genome
588	21811305	9606	Blood	ICD-10	Case-control based	NA	Genotyping	Six SNPs showed nominal significant allelic association with PD in the trend test, P-values ranging from 0.016 to 0.044 (Table 2).	Panic Disorder	Genome
589	21812102	9606	Blood	DSM-IV//IED-IR	Case-control based	aCGH//Microarray	aCGH//Microarray	The 1.35-Mbp deletion (chr1: 144,979,471-145,863,720) on chromosome 1q21.1 (Fig. 1A) was detected in Subject 1, who had features of IED as well as ADHD, borderline personality disorder, and a history of major depressive disorder, alcohol dependence, and poly-substance dependence.	Intermittent Explosive Disorder	Genome
590	21812102	9606	Blood	DSM-IV//IED-IR	Case-control based	Custom whole-genome microarray//aCGH	aCGH//Microarray	The 1.35-Mbp deletion (chr1: 144,979,471-145,863,720) on chromosome 1q21.1 (Fig. 1A) was detected in Subject 1, who had features of IED as well as ADHD, borderline personality disorder, and a history of major depressive disorder, alcohol dependence, and poly-substance dependence.	Intermittent Explosive Disorder	Genome
591	21818827	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	There were significant intergroup (PTSD versus non-PTSD) differences in the genotype frequencies of 5-HTTLPR/rs25531 (<U+00CF><U+2021>2[1, n=388]=16.23, P=5.62<U+00C3>—10-5).	Posttraumatic Stress Disorder	Genome
592	21829912	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	A significant association between the T-C-T (rs4448731, rs4565946, rs10506645) and C-A-T (rs4565946, rs7955501, rs10506645) haplotypes and obsessive-compulsive disorder was observed, as well as a strong linkage disequilibrium between SNPs rs4448731 and rs4565946, and SNPs rs10506645 and 4760820.	Obsessive Compulsive Disorder	Genome
593	21844811	9606	Blood		Case-control based	SNP-array//FISH//qPCR//MLPA	SNP-array//FISH//qPCR//MLPA	Compared to controls, fourteen deletions, and seven duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic.(Supplemental Table 4: CNVs from abnormal cases//Table 4: Case-control analysis of recurrent duplications)	Global Developmental Delay	Genome
594	21844811	9606	Blood		Case-control based	SNP-array//FISH//qPCR//MLPA	SNP-array//FISH//qPCR//MLPA	Compared to controls, fourteen deletions, and seven duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic.(Supplemental Table 4: CNVs from abnormal cases//Table 4: Case-control analysis of recurrent duplications)	Autism Spectrum Disorder	Genome
595	21844811	9606	Blood		Case-control based	SNP-array//FISH//qPCR//MLPA	SNP-array//FISH//qPCR//MLPA	Compared to controls, fourteen deletions, and seven duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic.(Supplemental Table 4: CNVs from abnormal cases//Table 3: Case-control analysis of recurrent deletions)	Intellectual Disability	Genome
596	21844811	9606	Blood		Case-control based	SNP-array//FISH//qPCR//MLPA	SNP-array//FISH//qPCR//MLPA	Compared to controls, fourteen deletions, and seven duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic.(Supplemental Table 4: CNVs from abnormal cases//Table 4: Case-control analysis of recurrent duplications)	Intellectual Disability	Genome
597	21844811	9606	Blood		Case-control based	SNP-array//FISH//qPCR//MLPA	SNP-array//FISH//qPCR//MLPA	Compared to controls, fourteen deletions, and seven duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic.(Supplemental Table 4: CNVs from abnormal cases//Table 3: Case-control analysis of recurrent deletions)	Global Developmental Delay	Genome
598	21844811	9606	Blood		Case-control based	SNP-array//FISH//qPCR//MLPA	SNP-array//FISH//qPCR//MLPA	Compared to controls, fourteen deletions, and seven duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic.(Supplemental Table 4: CNVs from abnormal cases//Table 3: Case-control analysis of recurrent deletions)	Autism Spectrum Disorder	Genome
599	21844811	9606	Blood	NA	Case-control based	44K or 105K custom-designed 60-mer oligonucleotide arrays//FISH//qPCR//MLPA	SNP-array//FISH//qPCR//MLPA	Compared to controls, fourteen deletions, and seven duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic.(Supplemental Table 4: CNVs from abnormal cases//Table 4: Case-control analysis of recurrent duplications)	Autism Spectrum Disorder	Genome
600	21844811	9606	Blood	NA	Case-control based	44K or 105K custom-designed 60-mer oligonucleotide arrays//FISH//qPCR//MLPA	SNP-array//FISH//qPCR//MLPA	Compared to controls, fourteen deletions, and seven duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic.(Supplemental Table 4: CNVs from abnormal cases//Table 4: Case-control analysis of recurrent duplications)	Global Developmental Delay	Genome
601	21844811	9606	Blood	NA	Case-control based	44K or 105K custom-designed 60-mer oligonucleotide arrays//FISH//qPCR//MLPA	SNP-array//FISH//qPCR//MLPA	Compared to controls, fourteen deletions, and seven duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic.(Supplemental Table 4: CNVs from abnormal cases//Table 4: Case-control analysis of recurrent duplications)	Intellectual Disability	Genome
602	21844811	9606	Blood	NA	Case-control based	44K or 105K custom-designed 60-mer oligonucleotide arrays//FISH//qPCR//MLPA	SNP-array//FISH//qPCR//MLPA	Compared to controls, fourteen deletions, and seven duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic.(Supplemental Table 4: CNVs from abnormal cases//Table 3: Case-control analysis of recurrent deletions)	Autism Spectrum Disorder	Genome
603	21844811	9606	Blood	NA	Case-control based	44K or 105K custom-designed 60-mer oligonucleotide arrays//FISH//qPCR//MLPA	SNP-array//FISH//qPCR//MLPA	Compared to controls, fourteen deletions, and seven duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic.(Supplemental Table 4: CNVs from abnormal cases//Table 3: Case-control analysis of recurrent deletions)	Global Developmental Delay	Genome
604	21844811	9606	Blood	NA	Case-control based	44K or 105K custom-designed 60-mer oligonucleotide arrays//FISH//qPCR//MLPA	SNP-array//FISH//qPCR//MLPA	Compared to controls, fourteen deletions, and seven duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic.(Supplemental Table 4: CNVs from abnormal cases//Table 3: Case-control analysis of recurrent deletions)	Intellectual Disability	Genome
605	21851175	9606	Blood	NA	Case-control based	TaqMan Assay	TaqMan	Rs1800697 and rs1800797 in the IL6 gene, rs8192284 in the IL6R gene, and rs4073 in the IL8 gene were not associated with the development of delirium.	Delirium	Genome
606	21861710	9606	saliva	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	One polymorphism, rs2734839 was found to be significantly associated with schizophrenia as well as late onset age. Individuals carrying the genetic variation were more than twice as likely to have schizophrenia compared with controls.	Schizophrenia	Genome
607	21915259	9606	Cell lines(iPSCs)	NA	Case-control based	RNA-Seq//RT-PCR	RNA-Seq//RT-PCR	Table S7 Differentially expressed genes that map to genome wide association (GWAS) SNPs and copy number variants (CNVs) found in schizophrenia, bipolar disorder and autism spectrum disorders.	Schizophrenia	Genome
608	21915259	9606	Cell lines	NA	Case-control based	RNA-Seq//RT-PCR	RNA-Seq//RT-PCR	Table S7 Differentially expressed genes that map to genome wide association (GWAS) SNPs and copy number variants (CNVs) found in schizophrenia, bipolar disorder and autism spectrum disorders.	Bipolar Disorder	Genome
609	21926972	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Table 3 Bipolar association results for primary GWAS, replication and combined samples for the most significant SNP from regions with Pgc<5<U+00C3>—10-5	Bipolar Disorder	Genome
610	21926974	9606	Blood	DSM-IV	Case-control based	Illumina 370K//Illumina 300K//Affymetrix 6.0//Sequenom MassArray	SNP-array	In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls), three loci reached genome-wide significance: CACNA1C (rs4765905, P=7.0<U+00C3>—10-9), ANK3 (rs10994359, P=2.5<U+00C3>—10-8) and the ITIH3-ITIH4 region (rs2239547, P=7.8<U+00C3>—10-9).	Bipolar Disorder	Genome
611	21926974	9606	Blood	NA	Case-control based	Illumina 370K//Illumina 300K//Affymetrix 6.0//Sequenom MassArray	SNP-array//MassArray	In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls), three loci reached genome-wide significance: CACNA1C (rs4765905, P=7.0<U+00C3>—10-9), ANK3 (rs10994359, P=2.5<U+00C3>—10-8) and the ITIH3-ITIH4 region (rs2239547, P=7.8<U+00C3>—10-9).	Bipolar Disorder	Genome
612	21926974	9606	Blood	DSM-IV	Case-control based	Illumina 370K//Illumina 300K//Affymetrix 6.0//Sequenom MassArray	SNP-array	Table 2 Top genome-wide association results for schizophrenia	Schizophrenia	Genome
613	21934640	9606	Blood	DISC	Family based	TaqMan Genotyping Assay	Taqman	In this sample, 10 SNPs in the OXTR gene were not significantly associated with CD.	Conduct Disorder	Genome
614	21936764	9606	Blood	DSM-IV	Case-control based	TaqMan Genotyping Assay	TaqMan	Associations were found between ANKK1 haplotype rs4938015C_rs11604671A and age of onset of daily smoking, as well as with hazardous drinking. No genetic association was found with smoking relapse due to alcohol consumption.	Heroin Addiction	Genome
615	21968928	9606	Blood//Cell lines(Transformed lymphoblastoid)	DSM-IV//SSAGA//C-SSAGA	Case-control based	Meta-analysis	Meta-analysis	ADH1B is associated with alcohol dependence and alcohol consumption in populations of European and African ancestry	Alcohol Use Disorder	Genome
616	21982423	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	Table 1 List of CNVs in Palau that appear to confer risk to schizophrenia and related psychotic disorders	Schizophrenia	Genome
617	21982423	9606	Blood	DSM-IV	Case-control based	Affymetrix Genomewide Human SNP Array 5.0.	SNP-array	Table 1 List of CNVs in Palau that appear to confer risk to schizophrenia and related psychotic disorders	Schizophrenia	Genome
618	21990008	9606	Blood	DSM-IV	Case-control based	NA	qPCR	In the logistic regression analysis of gene-gene interaction, we found a significant interaction effect of rs7525948 of DLGAP3 and rs2228622 of SLC1A1 (permutation P=0.036) on AAP-induced OC symptoms, with a 30.2 times higher odds for individuals carrying risk genotypes at both loci in comparison with the reference group, which had no risk genotypes.	Obsessive Compulsive Disorder	Genome
619	21995620	9606	Saliva		Case-control based	SNP-array	SNP-array	These findings suggest that the homozygous deletion at 22q13.1 may have an important impact on the function of the precuneus with downstream implications for alcohol dependence.	Alcohol Use Disorder	Genome
620	21995620	9606	Saliva	NA	Case-control based	SNP Array	SNP-array	These findings suggest that the homozygous deletion at 22q13.1 may have an important impact on the function of the precuneus with downstream implications for alcohol dependence.	Alcohol Use Disorder	Genome
621	22004471	9606	NA	DSM-IV	Case-control based	GWAS//Illumina Human610Quad//Illumina Human660w Quad BeadChips//Illumina HumanHap550 Bead Chips	GWAS//Illumina Human610Quad//Illumina Human660w Quad BeadChips//Illumina HumanHap550 Bead Chips	This is the first GWAS of AD to provide genome-wide significant support for the role of the ADH gene cluster and to suggest a polygenic component to the etiology of AD. Table2:Best SNPs (p<1.0E–5) of the pooled GWAS 1 + 2.	Alcohol Use Disorder	Genome
622	22009217	9606	Blood	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Our results revealed that no significant association was found in COMT -287A/G genotypic and allelic frequencies with TS. Our results also suggested that there may be a lack of association between the TS and -287A/G polymorphism of COMT in Chinese Han population.	Tourette's Disorder	Genome
623	22011818	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	Table 3 Results of genome-wide association study for common CNVs in 16p11.2	Panic Disorder	Genome
624	22011818	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Table 3 Results of genome-wide association study for common CNVs in 16p11.2	Panic Disorder	Genome
625	22037555	9606	Blood	DSM-IV	Case-control based	SNP Array 6.0	SNP-array	However, 149 SNPs out of 1,786 (8.34%, Pgwas-meta<0.05) showed nominal association signals with schizophrenia in the MHC region (Supplementary Table 8), and the most significant signal was observed at rs2394514 (Pgwas-meta=1.16<U+00C3>—10-5), which is located at 6p22.1.	Schizophrenia	Genome
626	22037555	9606	Blood	DSM-IV	Case-control based	SNP Array 6.0	SNP-array	Meta-analysis identified genome-wide significant association of common SNPs with schizophrenia on chromosome 8p12 (rs16887244, P=1.27<U+00C3>—10-10) and 1q24.2 (rs10489202, P=9.50<U+00C3>—10-9).	Schizophrenia	Genome
627	22083728	9606	Blood	DSM-IV 	Family based	SNP-array	SNP-array	Table 1 List of de novo CNVs found in the study	Schizophrenia	Genome
628	22083728	9606	Blood	DSM-IV	Family based	Affymetrix 6.0 array	SNP-array	Table 1 List of de novo CNVs found in the study	Schizophrenia	Genome
629	22083730	9606	Blood	DSM-IIIR//DSM-IV	Family based	NA	Genotyping	In conclusion, through analysis of a novel family sample and meta-analysis of a total of 376 nuclear families with TS, we show evidence of association of the disorder with variation across SLITRK1. Our study clearly suggests that the role of SLITRK1 in TS etiology may have been previously underappreciated.	Tourette's Disorder	Genome
630	22095678	9606	Blood	DSM-IV	Family based	Illumina with their BeadArray	SNP-array	The strongest signals on chromosome 15q are at rs11854468 (p=0.000054), located approximately 60 kb from NANOGP8, and at rs4625687 (p=0.00007), located in the intron of MEIS2.	Obsessive Compulsive Disorder	Genome
631	22095678	9606	Blood	DSM-IV	Family based	Illumina with their BeadArray	SNP-array	Table 1 Association of specific SNPs to OCD (FBAT p value<0.01) and Genetic Relative Risk (GRR) on chromosome 1q between PBX1 and LMX1A (N=376 families).	Obsessive Compulsive Disorder	Genome
632	22111664	9606	Blood	DSM-IV	Case-control based	TaqMan PCR assay	TaqMan	Genetic analysis with 80 SNPs of pleckstrin homology like domain beta 2 (PHLDB2) revealed 6 SNPs associated with VaD (P 6.25 10-4). Among them, four SNPs in introns 2 and 3 were in complete linkage and associated also with VaD-related phenotypes (P 0.05). Especially, rs951660 was predicted to produce splicing enhancers or serine/arginine-rich protein binding sites, and its minor allele (A) delayed expression of mRNA in vivo.	Vascular Neurocognitive Disorder	Genome
633	22116812	9606	Blood	NA	Case-control based	HumanHap550chipv3.0 array	SNP-array	We showed genome-wide significance for rs12007229, which is located on the X chromosome near the androgen receptor gene (OR, 3.7; 95% CI, 2.3-5.8, per copy of the minor allele; P=1.3<U+00C3>—10(-8)).	Vascular Neurocognitive Disorder	Genome
634	22118685	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	aCGH	aCGH	Table 3 CNVs of unknown significance in schizophrenia and epilepsy samples	Schizophrenia	Genome
635	22118685	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	aCGH	aCGH	Table 1 CNV abnormalities of likely significance in cases with both schizophrenia and epilepsy.	Schizophrenia	Genome
636	22118685	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	aCGH	aCGH	Table 1 CNV abnormalities of likely significance in cases with both schizophrenia and epilepsy.	Schizophrenia With Epilepsy	Genome
637	22118685	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	aCGH	aCGH	Table 2 CNVs abnormalities of possible significance in cases with both schizophrenia and epilepsy.	Schizophrenia	Genome
638	22118685	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	aCGH	aCGH	Table 3 CNVs of unknown significance in schizophrenia and epilepsy samples	Schizophrenia	Genome
639	22118685	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	aCGH	aCGH	Table 1 CNV abnormalities of likely significance in cases with both schizophrenia and epilepsy.	Schizophrenia	Genome
640	22118685	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	aCGH	aCGH	Table 1 CNV abnormalities of likely significance in cases with both schizophrenia and epilepsy.	Schizophrenia With Epilepsy	Genome
641	22118685	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	aCGH	aCGH	Table 2 CNVs abnormalities of possible significance in cases with both schizophrenia and epilepsy.	Schizophrenia	Genome
642	22169095	9606	Blood//Cell lines(Lymphoblast cells)	DSM-IV-TR	Case-control based	SNP-array	SNP-array	Table 3 Recurrent rare copy number variant (CNV) gene overlap with enrichment in Tourette syndrome (TS) versus controls. Underlined genes have been associated with autism spectrum disorders (ASD) (see Table 2).	Tourette's Disorder	Genome
643	22169095	9606	Blood//Cell lines(Lymphoblast cells)	DSM-IV-TR	Case-control based	SNP Array	SNP-array	Table 3 Recurrent rare copy number variant (CNV) gene overlap with enrichment in Tourette syndrome (TS) versus controls. Underlined genes have been associated with autism spectrum disorders (ASD) (see Table 2).	Tourette's Disorder	Genome
644	22196331	9606	Blood	DSM-IV 	Case-control based	aCGH	aCGH	Table 1 De Novo CNVs Detected in This Study	Schizophrenia	Genome
645	22196331	9606	Blood	DSM-IV 	Case-control based	aCGH	aCGH	Table 1 De Novo CNVs Detected in This Study	Bipolar Disorder	Genome
646	22196331	9606	Blood	DSM-IV	Case-control based	aCGH	aCGH	Table 1 De Novo CNVs Detected in This Study	Schizophrenia	Genome
647	22196331	9606	Blood	DSM-IV	Case-control based	aCGH	aCGH	Table 1 De Novo CNVs Detected in This Study	Bipolar Disorder	Genome
648	22214315	9606	Blood	DSM-IV	Case-control based	Affymetrix Whole-Genome Human SNP 6.0 microarrays	Microarray	Additional file 4: SNP analysis. SNPS were detected in DAOA and HTR2A genes of patient.	Motor Tic Disorder	Genome
649	22227290	9606	Blood	NA	Case-control based	SNP array//Meta-analysis	SNP-array//Meta-analysis	The TNF-<U+00CE>± gene -308A/G polymorphism does not appear to play a major role in the susceptibility to TD in patients with schizophrenia in a northern Chinese Han population. However this polymorphism may play a role in the TD severity.	Schizophrenia	Genome
650	22262089	9606	Blood	NA	Case-control based	NA	RT-PCR	When investigating the influence of the DRD2 C957T polymorphism on personality in persons who stutter, we could observe a significant effect of rs6277 on neuroticism(F(2,102)=3.91, P<0.05; see also Fig. 1).	Childhood-Onset Fluency Disorder	Genome
651	22271608	9606	Blood	DSM-IV	Case-control based	Genotyping	Genotyping	Our findings suggest that although DRD4 may not be associated with the diagnosis of BN, its variants are associated with a history of childhood ADHD in BN probands.	Bulimia Nervosa	Genome
652	22297151	9606	Blood//Cell lines(Immortalized)//Saliva	DSM-IV	Case-control based	Illumina GoldenGate Assay	SNP-array	One SNP, rs13134663, in the collagen XXV alpha 1 gene (COL25A1) was significantly associated with ASPD in both African Americans and European Americans (smallest p values were .0002 and .0004, respectively).	Antisocial Personality Disorder	Genome
653	22297151	9606	Blood//Cell lines(Immortalized)//Saliva	DSM-IV	Case-control based	Illumina GoldenGate Assay	SNP-array	One SNP, rs13134663, in the collagen XXV alpha 1 gene (COL25A1) was significantly associated with ASPD in both African Americans and European Americans (smallest p values were .0002 and .0004, respectively).	Substance Dependence	Genome
654	22311210	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Allele frequencies and genotypic distribution of the polymorphisms were in the HWE (patients: p=0.7385; controls: p=0.14) regarding the rs1800629 in both groups, as well as the rs361525 in the Control Group (p=0.22). The rs361525 marker in the Case Group was out of the HWE (p=0.0004).	Obsessive Compulsive Disorder	Genome
655	22311210	9606	Blood	DSM-IV	Case-control based	NA	qPCR	We found that the A allele of the TNFA rs361525 polymorphism was significantly associated with OCD subjects, according to the allelic <U+00CF><U+2021>(2) association test (p=0.007). The presence of genetic markers, such as inflammatory cytokines genes linked to OCD, may represent additional evidence supporting the role of the immune system in its pathogenesis.	Obsessive Compulsive Disorder	Genome
656	22346768	9606	Blood	DISCO-10	Case-control based	SNP-array	SNP-array	Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. (Table S6. List of all CNVs observed in ASD patients carrying a de novo deletion of SHANK2. )	Autism Spectrum Disorder	Genome
657	22346768	9606	Blood	DISCO-10	Case-control based	Illumina Human 1M-Duo BeadChip//Illumina Human Omni2.5 BeadChip array	SNP-array	Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. (Table S6. List of all CNVs observed in ASD patients carrying a de novo deletion of SHANK2. )	Autism Spectrum Disorder	Genome
658	22347417	9606	Blood	AIDS	Case-control based	TaqMan Assay	TaqMan	For one of the 12 polymorphisms tested, SNP rs2839619 in PREP1, we observed a significantly different genotype distribution when comparing AIDS patients with and without HAD.	Neurocognitive Disorder Due to HIV	Genome
659	22348616	9606	Blood	DSM-IV	Case-control based	NA	qPCR	The genotype with the lowest TSPO expression levels was the "normal pregnenolone production" genotype in the ASAD group. The genetic Ala147Thr SNP confirmed an excess of the Thr147 allele in ASAD patients. Stepwise logistic regression analysis did not show an association with an anxious attachment style.	Separation Anxiety Disorder	Genome
660	22353325	9606	Blood	DSM-IV-TR	Case report	NA	qPCR	This study suggests that polymorphisms of ACE I/D and ATr1 A1166C are not associated with risk of PD in Turkish patients. However, in ACE insertion/deletion polymorphism, the insertion allele was found to be more frequent in the male subgroup of patients (c2=4.61, P=0.032) than in controls, suggesting a potential male-specific role of the less active ACE insertion allele in the pathogenesis of PD.	Panic Disorder	Genome
661	22366815	9606	Blood	NA	Case-control based	NA	Genotyping	The present association studies found no association between AN and rs4680 when testing the allelic contrast [Utrecht odds ratio (OR)=1.14, P=0.14; Leiden OR=1.02, P=0.85].	Anorexia Nervosa	Genome
662	22397633	9606	Blood	DSM-IV-TR	Case-control based	SNPlex Genotyping	SNPlex	Table II. Case-control association study in 326 autistic patients and 350 sex-matched controls from Spain.	Autism Spectrum Disorder	Genome
663	22397633	9606	Blood	DSM-IV-TR	Case-control based	SNPlex Genotyping	SNPlex	A significant association was obtained between the DDC gene and autism in the single-marker analysis (rs6592961, P=0.00047).	Autism Spectrum Disorder	Genome
664	22427805	9606	Blood	NA	Case-control based	qPCR//Western blotting//Genotyping	Genotyping//qPCR//Western blottingting	A second SNP, rs6190 (R23K), was also implicated in regulation of GR mRNA expression. Individuals homozygous for the rs6190 major G allele (SNP non-carriers) displayed significantly lower GR-1C mRNA expression than individuals carrying the minor A allele (SNP carriers).	Bipolar Disorder	Genome
665	22427805	9606	Blood	NA	Case-control based	qPCR//Western blotting//Genotyping	Genotyping//qPCR//Western blottingting	Our results also suggest that functional polymorphisms within the GR (NR3C1) gene may impact GR gene expression. In particular, GR-1B mRNA transcript variant expression may be influenced by the rs10052957 (Tth111l) SNP. Carriers of the rs10052957 major C allele displayed decreased GR-1B mRNA expression in an allelic dose-dependent fashion.	Bipolar Disorder	Genome
666	22427805	9606	Blood	NA	Case-control based	qPCR//Western blotting//Genotyping	Genotyping//qPCR//Western blottingting	We also report a main effect of the rs41423247 (Bcl1) SNP on abundance of the 67 kDa GR<U+00CE>± protein isoform. Carriers of the minor G allele of rs41423247 displayed decreased 67 kDa GR<U+00CE>± isoform abundance relative to CC homozygotes.	Bipolar Disorder	Genome
667	22433450	9606	Blood	DSM-IV	Case-control based	Illumina GoldenGate array	SNP-array	We enrolled 225 patients with OCD and 279 controls recruited from the OCD Clinic at Bellvitge Hospital (Barcelona, Spain). No significant difference in the distribution of alleles or genotypes was detected between patients with OCD and controls. Nonetheless, on analyzing OCD subphenotypes, the rs1805476 SNP in male patients (95% confidence interval [CI] 1.37-4.22, p=0.002) and a 4-SNP haplotype in the whole sample (rs1805476, rs1805501, rs1805502 and rs1805477; odds ratio 1.92, 95% CI 1.22-3.01; permutation p=0.023) were significantly associated with the presence of contamination obsessions and cleaning compulsions.	Obsessive Compulsive Disorder	Genome
668	22435649	9606	Blood	DSM-IV-TR	Family based	SNP Array	SNP-array	Our results indicate that further study of the LHX6 gene in relation to the TS phenotype is warranted and suggest the intriguing hypothesis that different genetic factors may contribute to the etiology of TS in different populations, even within Europe.	Tourette's Disorder	Genome
669	22449891	9606	Blood	DSM-IV	Case-control based	Illumina GoldenGate array	SNP-array	Table 1 nsSNPs showing significant genotypic association with depression	Major Depressive Disorder	Genome
670	22467522	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	The SNP rs110402 and rs242924 in the CRHR1 gene and the rs3779250 in the CRHR2 gene were associated with MDD. The SNP rs242924 in the CRHR1 gene was also associated with PD. The T-A-T-G-G haplotype consisting of rs7209436 and rs173365 in CRHR1 was positively associated with MDD. The T-A haplotype consisting of rs7209436 and rs110402 in CRHR1 was positively associated with MDD. The C-C haplotype consisting of rs4722999 and rs37790 in CRHR1 was associated with PD. These results provide support for an association of CRHR1 and CRHR2 with MDD and PD.	Major Depressive Disorder	Genome
671	22467522	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	The SNP rs110402 and rs242924 in the CRHR1 gene and the rs3779250 in the CRHR2 gene were associated with MDD. The SNP rs242924 in the CRHR1 gene was also associated with PD. The T-A-T-G-G haplotype consisting of rs7209436 and rs173365 in CRHR1 was positively associated with MDD. The T-A haplotype consisting of rs7209436 and rs110402 in CRHR1 was positively associated with MDD. The C-C haplotype consisting of rs4722999 and rs37790 in CRHR1 was associated with PD. These results provide support for an association of CRHR1 and CRHR2 with MDD and PD.	Panic Disorder	Genome
672	22495306	9606	Blood	NA	Family based	Illumina	WES	Overall, our results substantially clarify the genomic architecture of ASD, demonstrate significant association of three genes SCN2A, KATNAL2 and CHD8, and indicate that approximately 25-50 additional ASD-risk genes will be identified as sequencing of the 2,648 SSC families is completed (Supplement S2).	Autism Spectrum Disorder	Genome
673	22495309	9606	Blood	DSM-IV 	Family based	aCGH//SNP-array	aCGH//SNP-array	Supplementary Table 6. 70 rare inherited and 6 de novo CNVs identified in 122 trios.	Autism Spectrum Disorder	Genome
674	22495309	9606	Blood	DSM-IV 	Family based	aCGH//SNP-array	aCGH//SNP-array	Supplementary Table 7. Expanded top de novo ASD risk contributing mutations	Autism Spectrum Disorder	Genome
675	22495309	9606	Blood	DSM-IV	Family based	aCGH//Illumina 1M array	aCGH//SNP-array	Table 1 Top de novo ASD risk contributing mutations	Autism Spectrum Disorder	Genome
676	22495309	9606	Blood	DSM-IV	Family based	aCGH//Illumina 1M array	aCGH//SNP-array	Supplementary Table 7. Expanded top de novo ASD risk contributing mutations	Autism Spectrum Disorder	Genome
677	22495309	9606	Blood	DSM-IV	Family based	aCGH//Illumina 1M array	aCGH//SNP-array	Supplementary Table 6. 70 rare inherited and 6 de novo CNVs identified in 122 trios.	Autism Spectrum Disorder	Genome
678	22495309	9606	Blood	DSM-IV	Family based	aCGH//Illumina 1M array	aCGH//SNP-array	Supplementary Table 7. Expanded top de novo ASD risk contributing mutations	Autism Spectrum Disorder	Genome
679	22495311	9606	Blood	DSM-IV//ADI-R//ADOS	Family based	NA	WES	Our results support polygenic models in which spontaneous coding mutations in any of a large number of genes increases risk by 5 to 20-fold. Despite the challenge posed by such models, results from de novo events and a large parallel case-control study provide strong evidence in favor of CHD8 and KATNAL2 as genuine autism risk factors.(Supplementary Table 2)	Autism Spectrum Disorder	Genome
680	22511880	9606	Blood	NA	Case-control based	Sequenom iPLEX Gold assay	MassARRAY	The candidate genes (UBE3B, CLTCL1, NCKAP5L, ZNF18) encode proteins involved in proteolysis, GTPase-mediated signaling, cytoskeletal organization, and other pathways. Furthermore, neuronal depolarization regulated the transcription of these genes, suggesting potential activity-dependent roles in neurons. (Table 3 Whole-exome screen identifies additional potential recessive mutations in the four candidate autism genes.)	Autism Spectrum Disorder	Genome
681	22511880	9606	Blood	NA	Case-control based	Sequenom iPLEX Gold assay	MassARRAY	Table 2 Candidate autism genes identified in 4 AGRE patients.	Autism Spectrum Disorder	Genome
682	22515636	9606	Blood		Case report	aCGH	aCGH	Four patients had a deletion of a known movement disorder gene including paroxysmal kinesigenic dyskinesia (PRRT2; n=2), SGCE (myoclonus dystonia, n=1), and TITF1 (benign hereditary chorea, n=1). Three patients had novel microdeletions of unknown but potential significance including 14q13.3 (chorea, n=1), 19p13.12 (tremor, n=1), and 19q13.12 (progressive dystonia).	Motor Disorders	Genome
683	22515636	9606	Blood	NA	Case report	aCGH	aCGH	Four patients had a deletion of a known movement disorder gene including paroxysmal kinesigenic dyskinesia (PRRT2; n=2), SGCE (myoclonus dystonia, n=1), and TITF1 (benign hereditary chorea, n=1). Three patients had novel microdeletions of unknown but potential significance including 14q13.3 (chorea, n=1), 19p13.12 (tremor, n=1), and 19q13.12 (progressive dystonia).	Motor Disorders	Genome
684	22517382	9606	Blood		Case report	aCGH	aCGH	We report the case of a young male with attention-deficit hyperactivity disorder, oppositional defiant disorder, eating problems and overweight, and mild mental retardation. Karyotype analysis detected an apparently balanced translocation: t(1;2)(p34.1;q21.1) de novo.	Binge Eating Disorder	Genome
685	22517382	9606	Blood	NA	Case report	aCGH	aCGH	We report the case of a young male with attention-deficit hyperactivity disorder, oppositional defiant disorder, eating problems and overweight, and mild mental retardation. Karyotype analysis detected an apparently balanced translocation: t(1;2)(p34.1;q21.1) de novo.	Binge Eating Disorder	Genome
686	22522212	9606	Blood	DSM-IV//ADI-R	Case-control based	NA	Genotyping	Furthermore, we detected an interaction effect on age of first phrase between a SNP rs2228946 in the WNT2 gene and another SNP rs6460013 in the EN2 gene (p=0.0012).	Autism Spectrum Disorder	Genome
687	22522212	9606	Blood	DSM-IV//ADI-R	Case-control based	NA	Genotyping	Furthermore, we detected an interaction effect on age of first phrase between a SNP rs2228946 in the WNT2 gene and another SNP rs6460013 in the EN2 gene (p=0.0012).	Language Disorder	Genome
688	22522212	9606	Blood	DSM-IV//ADI-R	Case-control based	NA	Genotyping	The results show that rs2896218 in the WNT2 gene was moderately significantly associated with age of first phrase (permutation p=0.0045).	Autism Spectrum Disorder	Genome
689	22522212	9606	Blood	DSM-IV//ADI-R	Case-control based	NA	Genotyping	The results show that rs2896218 in the WNT2 gene was moderately significantly associated with age of first phrase (permutation p=0.0045).	Language Disorder	Genome
690	22522758	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	The T allele of the serotonin receptor subtype 2A T102C polymorphism was more frequent among obsessive-compulsive disorder patients (responders and non-responders) than in the controls (p<0.01). The CC genotype of the serotonin receptor subtype 2A C516T polymorphism was more frequent among the non-responders than in the responders (p<0.01). The CC genotype of the serotonin receptor subtype 1D<U+00CE>2 G681C polymorphism was associated with higher cortisol and prolactin responses to citalopram (p<0.01 and p<0.001, respectively) and with a higher platelet-rich plasma serotonin concentration among the controls (p<0.05).	Obsessive Compulsive Disorder	Genome
691	22530067	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	We found a significant difference in genotype frequency between the patients and the controls in rs2298599 (x2=17.6, p=0.00015). The minor A/A genotype frequency of rs2298599 was higher in the patients (18%) than in the controls (9%) (x2=15.5, p=0.000083). Moreover, we found that subjects with the rs2298599 risk A/A genotype, compared with G allele carriers, had higher scores of schizotypal traits (F1,178=4.08, p=0.045), particularly the interpersonal factor (F1,178=5.85, p=0.017).	Schizophrenia	Genome
692	22531293	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Table 2 Allellic association analysis of the single nucleotide polymorphisms of interest between groups according to Fishera€<U+2122>s exact test	Obsessive Compulsive Disorder	Genome
693	22542183	9606	Blood	NA	Family based	Illumina HiSeq 2000	SNP-array	SNV and indel variants from affected children that are likely to disrupt the function of the corresponding proteins are listed.(Table 3 Likely Gene-Disrupting (LGD) Mutations in Affected Children)	Autism Spectrum Disorder	Genome
694	22543972	9606	Blood	Others	Case report	aCGH//FISH//PCR//Sanger Sequencing	aCGH//FISH//PCR//Sanger Sequencing	We suggest that small rare recurrent deletion of 2q21.1 is pathogenic for DD/ID, ADHD, epilepsy and other neurobehavioral abnormalities and, because of its small size, low frequency and more severe phenotype might have been missed in other previous genome-wide screening studies using single-nucleotide polymorphism analyses.	Attention-Deficit/Hyperactivity Disorder	Genome
695	22543972	9606	Blood		Case report	aCGH	aCGH	Table 1.Summary of genetic and clinical findings in patients 1-10	Attention-Deficit/Hyperactivity Disorder	Genome
696	22543972	9606	Blood	NA	Case report	aCGH	aCGH	Table 1.Summary of genetic and clinical findings in patients 1-10	Attention-Deficit/Hyperactivity Disorder	Genome
697	22579533	9606	Blood	DSM-IV-TR	Case-control based	NA	Genotyping	Compared to weight-matched controls, BED was significantly related to the rs1800497 and rs6277 genotypes that reflect enhanced dopamine neurotransmission.	Binge Eating Disorder	Genome
698	22580710	9606	Blood	ICD-10//DSM-IV	Case-control based	Array	SNP-array	Compatible with previous findings on a role of dysbindin in hippocampal functions as well as in major psychoses, the present study provides first direct in vivo evidence that the DTNBP1 SNP rs2619522 is associated with variation of grey matter volumes bilaterally in the hippocampus.	Obsessive Compulsive Disorder	Genome
699	22580710	9606	Blood	ICD-10//DSM-IV	Case-control based	Array	SNP-array	There were significant alterations of grey matter volume in association with the risk allele T (genotype C/T) on a FDR-correction level. T-carriers exhibited significantly higher brain volume bilaterally in frontal cortices as well as in the left lingual gyrus, the right thalamus/pulvinar and the left cerebellum (Table 3).	Obsessive Compulsive Disorder	Genome
700	22614287	9606	Blood	DSM-IV	Case-control based	Illumina HumanHap300 chip//Illumina HumanHap550 chip//Human-610 Quad Beadchip	SNP-array	The results for all SNPs are fully documented in Table S3 and summary results for SNPs reported by the PGC as GWS, or which attained that in the present study, are given in Table 1.	Schizophrenia	Genome
701	22614287	9606	Blood	DSM-IV	Case-control based	Illumina HumanHap300 chip//Illumina HumanHap550 chip//Human-610 Quad Beadchip	SNP-array	Table 1 SNPs reported as genome-wide significant for schizophrenia.	Schizophrenia	Genome
702	22641179	9606	Blood	NA	Case-control based	TaqMan assay	TaqMan assay	Using stringent criteria, we followed-up a genome-wide association study (GWAS) finding1 to examine the involvement of the developmental regulatory gene NOTCH4 in schizophrenia.	Schizophrenia	Genome
703	22662185	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	The latter was found to be nominally significant for four SNPs (rs1978340, rs3762555, rs3749034, rs2241165) in the discovery sample; of note, the respective minor/risk alleles were associated with panic disorder only in females.	Panic Disorder	Genome
704	22664926	9606	Blood	DSM-IV	Case-control based	MassARRAY	MassARRAY	A total of 513 in- and outpatients affected with adult ADHD and 536 controls as well as 170 nuclear families with 249 children affected with ADHD were genotyped for 35 SNPs, which tagged the promoter region, the 5' and 3' UTRs, and the exons of the PPP2R2C. Two independent samples provided evidence that the major G allele of rs16838844 increases risk toward ADHD. Allelic variations of PPP2R2C rs16838698 on the other hand might be associated with a variety of personality traits.	Attention-Deficit/Hyperactivity Disorder	Genome
705	22664926	9606	Blood	DSM-IV	Case-control based	Sequenom iPLEX Gold assay	MassARRAY	Table 3 SNPs with nominally significant associations with comorbid disorders in the family sample	Attention-Deficit/Hyperactivity Disorder	Genome
706	22664926	9606	Blood	DSM-IV	Case-control based	Sequenom iPLEX Gold assay	MassARRAY	Table 2 SNPs with nominally significant results in at least one sample	Attention-Deficit/Hyperactivity Disorder	Genome
707	22664926	9606	Blood	DSM-IV	Case-control based	Sequenom iPLEX Gold assay	MassARRAY	Table 4 SNPs with nominally significant association with personality traits in the adult ADHD patients.	Attention-Deficit/Hyperactivity Disorder	Genome
708	22664926	9606	Blood	DSM-IV	Case-control based	Sequenom iPLEX Gold assay	MassARRAY	Furthermore,the A risk allele of rs4689425 was associated with anxiety disorder (p=0.009), and the C risk allele of rs4689404 was associated with learning disability(p=0.030). However, due to the low number of affected subjects and the failure to survive correction for multiple testing, these most likely represent false-positives (Table 3).	Learning Disorder	Genome
709	22664926	9606	Blood	DSM-IV	Case-control based	Sequenom iPLEX Gold assay	MassARRAY	Table 3 SNPs with nominally significant associations with comorbid disorders in the family sample	Conduct Disorder	Genome
710	22664926	9606	Blood	DSM-IV	Case-control based	Sequenom iPLEX Gold assay	MassARRAY	Table 3 SNPs with nominally significant associations with comorbid disorders in the family sample	Learning Disorder	Genome
711	22664926	9606	Blood	DSM-IV	Case-control based	Sequenom iPLEX Gold assay	MassARRAY	In the adult sample, the A allele of SNP rs6831981 showed nominally significant association with depression (p=0.032, OR: 1.34, 95 %-CI: 1.03-1.75) and anxiety (p=0.024, OR: 1.48, 95 %-CI: 1.05-2.08).	Anxiety Disorder	Genome
712	22664926	9606	Blood	DSM-IV	Case-control based	Sequenom iPLEX Gold assay	MassARRAY	Table 3 SNPs with nominally significant associations with comorbid disorders in the family sample	Depressive Disorder	Genome
713	22664926	9606	Blood	DSM-IV	Case-control based	Sequenom iPLEX Gold assay	MassARRAY	Table 3 SNPs with nominally significant associations with comorbid disorders in the family sample	Oppositional Defiant Disorder	Genome
714	22664926	9606	Blood	DSM-IV	Case-control based	Sequenom iPLEX Gold assay	MassARRAY	Furthermore,the A risk allele of rs4689425 was associated with anxiety disorder (p=0.009), and the C risk allele of rs4689404 was associated with learning disability(p=0.030). However, due to the low number of affected subjects and the failure to survive correction for multiple testing, these most likely represent false-positives (Table 3).	Anxiety Disorder	Genome
715	22664926	9606	Blood	DSM-IV	Case-control based	Sequenom iPLEX Gold assay	MassARRAY	Table 3 SNPs with nominally significant associations with comorbid disorders in the family sample	Anxiety Disorder	Genome
716	22664926	9606	Blood	DSM-IV	Case-control based	Sequenom iPLEX Gold assay	MassARRAY	Two SNPs showed nominally significant association with conduct disorder with the lowest p value of 0.006 (the G risk allele of rs11725306).	Conduct Disorder	Genome
717	22669173	9606	Saliva	DSM-IV-TR	Case-control based	TaqMan Genotyping Assay	TaqMan	When genotype was considered in the case-control analyses, there was a group by genotype interaction, such that the rs2023239 G allele predicted lower volume of bilateral hippocampi among cannabis users relative to controls (both p<0.001).	Cannabis Use Disorder	Genome
718	22693595	9606	Blood	DSM-IV//ICD-10	Case-control based	SNP Array	SNP-array	Nominally significant association (P,0.05) was found with 18 SNPs, in three main clusters across three adjacent genes SLCO3A1, ST8SIA2, and C15orf32 (Table 1).	Bipolar Disorder	Genome
719	22694265	9606	Blood	NA	Case-control based	High resolution melting	HRM	DGCR8 rs3757 and AGO1 rs636832 were found to have significant association with depression, and GEMIN4 rs7813 did not affect susceptibility to depression.	Major Depressive Disorder	Genome
720	22702843	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	CNVs in 6q14.1 (p=1.04脙鈥	Alcohol Use Disorder	Genome
721	22702843	9606	Blood	DSM-IV	Case-control based	Illumina Human 1M array	SNP-array	CNVs in 6q14.1 (p=1.04<U+00C3>—10(-6)) and 5q13.2 (p=3.37<U+00C3>—10(-4)) were significantly associated with alcohol dependence after adjusting multiple tests.(Table 3 Associations of CNVs and alcohol dependence)	Alcohol Use Disorder	Genome
722	22704111	9606	Blood	IIEF-5	Case-control based	Illumina Human1M Beadchip	SNP-array	Table 4 Candidate Gene Results for Multivariate M2* model with Q Scores	Erectile Disorder	Genome
723	22704111	9606	Blood	IIEF-5	Case-control based	Illumina Human1M Beadchip	SNP-array	Table 3 Unadjusted and multivariate adjusted logistic regression of SNPs with erectile dysfunction for P<10-6	Erectile Disorder	Genome
724	22704111	9606	Blood	IIEF-5	Case-control based	Illumina Human1M Beadchip	SNP-array	Two single nucleotide polymorphisms located on chromosome 3 in 1 genomic loci were associated with erectile dysfunction with p <1<U+00C3>—10(-6), including rs9810233 with p=7<U+00C3>—10(-7) and rs1920201 with p=9<U+00C3>—10(-7).	Erectile Disorder	Genome
725	22727904	9606	Blood	DSM-IV	Case-control based	Illumina GoldenGate array	SNP-array	The 5-HTTLPR in the promoter region showed a female-specific genetic effect, with the l/l and l/s genotypes linked to higher OCS scores than the s/s genotype (ps<.05). In contrast, a conserved haplotype polymorphism (rs1042173| rs4325622| rs3794808| rs140701| rs4583306| rs2020942) covering from intron 3 to the 3' UTR of the SLC6A4 gene showed male-specific genetic effects, with the CGAAGG/CGAAGG genotype associated with lower OCS scores than the other genotypes (ps<.05).	Obsessive Compulsive Disorder	Genome
726	22733126	9606	Blood	ICD-10//DIP	Case-control based	Infinium Human 610K BeadChips	SNP-array	The CD subgroup were more likely to be unemployed, had an earlier illness onset, and greater severity of functional disability and negative symptoms than the CS group. Risk alleles on the MIR137 single-nucleotide polymorphism (SNP) predicted membership of CD subtype only in combination with higher severity of negative symptoms.	Schizophrenia	Genome
727	22740152	9606	Blood	DSM-IV	Family based	NA	qPCR	A significant association of the C/C genotype of the serotonin receptor 2A T102C (rs 6313) polymorphism and the PG phenotype was observed [OR=1.7 (1.1-3.4)].	Gambling Disorder	Genome
728	22759724	9606	Blood	NA	Case-control based	NA	qPCR	Elderly medical and hip surgery patients were included in the study. Five single-nucleotide polymorphisms (SNPs) were determined in the MTNR1B gene, i.e. rs18030962, rs3781638, rs10830963, rs156244 and rs4753426.None of the polymorphisms were found to be associated with the occurrence of delirium.	Delirium	Genome
729	22780124	9606	Blood	DSM-IV	Case-control based	Illumina HumanCNV370-Quadv3 BeadChips//Human610-Quadv1 BeadChips	SNP-array	Table 1 Variants showing the strongest association with the quantitative disordered gambling factor score (independent markers with P<1<U+00C3>—10-5).	Gambling Disorder	Genome
730	22785398	9606	Blood	NA	Case-control based	TaqMan Assay	TaqMan	Table 1 shows the GSK-3  rs334558 genotype frequencies in the participant cohort; these genotype frequencies did not deviate from Hardy-Weinberg equilibrium in either group (aMCI group: <U+00CF><U+2021>2=0.03, p=0.87; control group: <U+00CF><U+2021>2=0.07, p=0.79).	Mild Neurocognitive Disorder	Genome
731	22797368	9606	Blood	DSM-IV	Case-control based	ARMS-PCR	ARMS-PCR	We unexpectedly observed a nominal association of the A-allele at rs9939609 with AN (unadjusted OR=1.181, 95% CI 1.027-1.359, two-sided p=0.020, table 3). This association was also seen after exclusion of all 29 male subjects (660 cases and 3,951 controls; OR: 1.176, 95% CI 1.021-1.354; two-sided p=0.025; data not shown).	Anorexia Nervosa	Genome
732	22797413	9606	Blood	IRLSRS	Case-control based	SNP Array	SNP-array	Table 2.    G enetic studies published in the literature identifying suggestive restless leg syndrome loci and genetic variants	Restless Legs Syndrome	Genome
733	22814006	9606	Blood	CIDI//ICD-10	Case-control based	qRT-PCR	qRT-PCR	One hundred ninety one Caucasian patients admitted with exacerbation of paranoid schizophrenia were genotyped for polymorphisms of the DRD2 [the ins/del -141C (rs1799732) and exon 8 (rs 71653615)], DRD2/ANKK1 Taq IA(rs 1800497), DAT1 (the 40 bp VNTR), COMT (rs 4680), and MAOA gene (the 30 bp VNTR in promoter).	Schizophrenia	Genome
734	22823124	9606	Blood	NA	Case-control based	Illumina SNP platforms (317K, HumanCNV370-Quadv3, HumanCNV370v1, and Human610-Quad)	SNP-array	Supplementary Table 1. Association results of the top 30 SNPs for cannabis use initiation.	Cannabis Use Disorder	Genome
735	22832399	9606	Saliva	NA	Case-control based	NA	qPCR	Those with ALDH2 *1/*1 and ADH1B *1/*1 were likely to be at an increased risk of depressive and anxiety disorders as well as ARD.	Depressive Disorder	Genome
736	22832399	9606	Saliva	NA	Case-control based	NA	qPCR	Those with ALDH2 *1/*1 and ADH1B *1/*1 were likely to be at an increased risk of depressive and anxiety disorders as well as ARD.	Anxiety Disorder	Genome
737	22832957	9606	Brain	NA	Case-control based	Microarray	Microarray	Among the 39 candidate genes, we found that the expression levels of four genes, HTR2A, PLXNA2, SRR and TCF4, were significantly associated with cis SNPs in at least one brain region tested(Table 3).	Schizophrenia	Genome
738	22850628	9606	Brain	DSM-IV	Case-control based	NA	qPCR	Furthermore, allelic variation at the BD-associated SNP rs1938526 correlated with a significant difference in cerebellar expression of a brain-specific ANK3 transcript.	Bipolar Disorder	Genome
739	22850735	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	In the current study, we examine the impact of variation at this locus (rs1625579, G/T; where T is the common and presumed risk allele) on brain activation during a sentence completion task that differentiates individuals with SCZ, bipolar disorder (BD), and their relatives from controls.	Schizophrenia	Genome
740	22854411	9606	Blood	NA	Case-control based	Sequenom MassARRAY	MassARRAY	Only one (rs2470893) of the 4 candidate SNPs associated with habitual caffeine and coffee consumption in recent GWASs (18-20) was not associated with caffeine consumption in our cohort.	Caffeine Use Disorder	Genome
741	22869035	9606	Blood	DSM-IV	Case-control based	Illumina OMNI 2.5-8 array	SNP-array	Table 1 SNPs with P<10-5 from the discovery GWAS of PTSD in trauma-exposed white non-Hispanic subjects (n=295 cases and 196 controls).	Posttraumatic Stress Disorder	Genome
742	22882465	9606	Blood	NA	Case-control based	NA	qPCR	We found a heterozygote effect on one SNP in the oxytocin receptor gene (rs75775), so that individuals heterozygous for this SNP had significantly elevated risk for premature ejaculation symptoms compared with carriers of either homozygote.	Premature (Early) Ejaculation	Genome
743	22889921	9606	Blood	DSM-IV	Case-control based	Illumina Human610-Quadv1_B SNP array	SNP-array	In the case-control sample, no SNPs exceeded the genome-wide threshold for significance (Table 1, Figure 2). Nine OCD-associated SNPs had p-values<1<U+00C3>—10-5 (Table 1). The lowest two p-values were for SNPs rs11081062 (p=2.49<U+00C3>—10-6) and rs11663827 (p=3.44<U+00C3>—10-6), located at chromosome 18 within an intron of DLGAP1 (Figure 3).	Obsessive Compulsive Disorder	Genome
744	22889921	9606	Blood	DSM-IV	Case-control based	Illumina Human610-Quadv1_B SNP array	SNP-array	Although no SNPs were identified to be associated with OCD at a genome-wide significant level in the combined trio-case-control sample, a significant enrichment of methylation QTLs (P<0.001) and frontal lobe expression quantitative trait loci (eQTLs) (P=0.001) was observed within the top-ranked SNPs (P<0.01) from the trio-case-control analysis, suggesting these top signals may have a broad role in gene expression in the brain, and possibly in the etiology of OCD.	Obsessive Compulsive Disorder	Genome
745	22889924	9606	Blood//Cell lines	DSM-IV-TR	Case-control based	Illumina Human610-Quadv1_B SNP array	SNP-array	Supplementary Table S7. Evaluation of previously reported TS candidate genes. SNPs within 50kb of each candidate gene were selected for evaluation. The number of LD-independent SNPs within each locus was determined using an r2<0.5 threshold between each SNP.	Tourette's Disorder	Genome
746	22889924	9606	Blood//Cell lines	DSM-IV-TR	Case-control based	Illumina Human610-Quadv1_B SNP array	SNP-array	The other four top independent GWAS signals include rs6539267, an intronic SNP within POLR3B on chromosome 12q23 (p=7.41<U+00C3>—10-6;Figure S10)	Tourette's Disorder	Genome
747	22889924	9606	Blood//Cell lines	DSM-IV-TR	Case-control based	Illumina Human610-Quadv1_B SNP array	SNP-array	The SNP with the strongest signal, rs7868992, lies on chromosome 9q32 within an intron of COL27A1 (p=1.85<U+00C3>—10-6; Figure S9).	Tourette's Disorder	Genome
748	22892717	9606	Blood	DSM-IV	Case-control based	SNPlex Genotyping	SNPlex	Four SNPs showed significant associations in MDD groupa€”rs16824691,rs1461131, rs4831089 and rs9874470.	Major Depressive Disorder	Genome
749	22892717	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Two SNPs showed significant associations in PD groupa€”rs1461131 and rs4831089.	Panic Disorder	Genome
750	22911880	9606	Blood	DSM-IV	Case-control based	NA	Genotyping//Meta-Analysis	TABLE III Meta-Analysis Results of SNPs With P<1<U+00C3>—10-5	Eating Disorder	Genome
751	22911880	9606	Blood	DSM-IV	Case-control based	NA	Genotyping//Meta-Analysis	TABLE III Meta-Analysis Results of SNPs With P<1<U+00C3>—10-5	Obsessive Compulsive Disorder	Genome
752	22911880	9606	Blood	DSM-IV	Case-control based	NA	Genotyping//Meta-Analysis	TABLE III Meta-Analysis Results of SNPs With P<1<U+00C3>—10-5	Bipolar Disorder	Genome
753	22911880	9606	Blood	DSM-IV	Case-control based	NA	Genotyping//Meta-Analysis	TABLE III Meta-Analysis Results of SNPs With P<1<U+00C3>—10-5	Bulimia Nervosa	Genome
754	22914617	9606	Blood	DSM-IV-TR	Case-control based	NA	qPCR	There was a statistically significant association between the variant rs9296249 of the BTBD9 gene and the TS phenotype. However, no statistically significant associations were found between the other four variants (rs4714156, rs9357271, rs518147, and rs3813929) and the TS phenotype (P>0.05). Larger-scale studies are warranted to further define the relationship between variant rs9296249 of the BTBD9 gene and the risk of developing TS.	Tourette's Disorder	Genome
755	22914618	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Patients with bipolar disorder showed a negative effect of the CACNA1C risk allele rs1006737 on a composite cognitive measure, only apparent in the group homozygous for this allele, fitting a recessive model.	Bipolar Disorder	Genome
756	22915352	9606	Blood	NA	Case-control based	Illumina 610K beadarray	SNP-array	TABLE II. Time-To-Event Analysis Results, Showing SNPs Showing Strongest Evidence (P<1E_x0001_04) for Association and P-values for Case-Control Genome-Wide Association Study	Depressive Disorder	Genome
757	22915352	9606	Blood	NA	Case-control based	Illumina 610K beadarray	SNP-array	TABLE IV. SNPs Reaching Suggestive Significance in the Analysis of AAO As a Quantitative Trait in the Full RADIANT Data Set	Depressive Disorder	Genome
758	22915352	9606	Blood	NA	Case-control based	Illumina 610K beadarray	SNP-array	TABLE III. Regions Showing Suggestive Evidence for Association in AAO-Threshold Case-Control Analyses	Depressive Disorder	Genome
759	22935194	9606	Blood	DSM-5	Family based	Illumina Human 1M beadchip	SNP-array	Table2 Genotype-PhenotypeAssociationsApproachingorBelowthe5<U+00C2>·10)8ThresholdforParticipantsFromtheAGREandAGPCohorts	Autism Spectrum Disorder	Genome
760	22970887	9606	Blood	NA	Case-control based	Sequenom MassARRAY	MassARRAY	After correction for multiple testing across SNPs and phenotypes, of the thirty-one SNPs genotyped across DRD2/ANKK1, one SNP (rs10891549) showed significant association with the general alcohol consumption and problems factor score (p=0.004), and four SNPs (rs10891549, rs1554929, rs6275, rs6279), representing 2 independent signals after accounting for LD, showed significant association with the alcohol problems genetic factor score (p=0.005, p=0.005, p=0.003, p=0.003).	Alcohol Use Disorder	Genome
761	23001634	9606	Blood	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	rs1052553 genotype and allelic frequencies did not differ significantly between patients with RLS and controls, and were unrelated with the age at onset of RLS, gender, family history of RLS, and severity of RLS. The results of the present study suggest that the SNP rs1052553 is not related with the risk for RLS.	Restless Legs Syndrome	Genome
762	23001975	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Our data indicated that genotype frequency of A/G polymorphism at codon 399 of the patients differed from the controls (P=0.026, OR: 2.22, 95% CI: 1.22-4.03). The allele frequency analysis also showed significant differences with higher A allele frequency in patients (P=0.015, OR: 1.70, 95% CI: 1.11-2.62).	Tourette's Disorder	Genome
763	23015298	9606	Blood	DSM-IV	Case-control based	High resolution melting	HRM	We found that two SNPs in the DGCR8 and DICER gene were significantly associated with the altered SZ risk. The genotype or allele frequency of rs3742330 in DICER was significantly different in patients and controls. Moreover, the recessive model of rs3757 in DGCR8 (AA vs. GA/GG) exhibited a significantly increased risk with an odds ratio (OR) of 3.73 [95 % confidence interval (CI), 1.03-13.52, P00.032]; the dominant model of rs3742330 in DICER (AA vs. AG/GG) exhibited a significantly increased risk with OR of 1.49 (95 % CI, 1.04-2.13; P00.028). Other SNPs and the haplotype of GEMIN4 (rs3744741 and rs7813) did not show any association with SZ.	Schizophrenia	Genome
764	23015298	9606	Blood	DSM-IV	Case-control based	NA	HRM	We found that two SNPs in the DGCR8 and DICER gene were significantly associated with the altered SZ risk.	Schizophrenia	Genome
765	23015298	9606	Blood	DSM-IV	Case-control based	High resolution melting	HRM	We found that two SNPs in the DGCR8 and DICER gene were significantly associated with the altered SZ risk.	Schizophrenia	Genome
766	23021708	9606	Blood	SHIM	Case-control based	Affymetrix v6.0 arrays	SNP-array	Table 2 SNPs associated with ED following radiation therapy for treatment of prostate cancer. Results are adjusted for age, ADT, treatment, and PCs. Genotypes are reported with the risk allele listed first. Alleles are shown as risk/non-risk.	Erectile Disorder	Genome
767	23029476	9606	Blood		Case-control based	SNP-array	SNP-array	Table 5 CNVs from any region of the genome that show differences between MD_SA and MD_NO SA, with single point p-values<0.1 (Hg18 coordinates).	Major Depressive Disorder	Genome
768	23029476	9606	Blood	NA	Case-control based	SNP Array	SNP-array	Table 5 CNVs from any region of the genome that show differences between MD_SA and MD_NO SA, with single point p-values<0.1 (Hg18 coordinates).	Major Depressive Disorder	Genome
769	23032943	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	In the CNP rs2070106, GG-genotype had a lower proportion of males (n=1 and n=3) among the unaffected individuals with a SZ relative and those with a BD relative, respectively, compared with the A-carriers.	Psychotic Disorder	Genome
770	23032943	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	In MOG rs2857766, the unaffected group with a BD relative had a lower proportion of females among the C-carriers group (n=3) compared with the GG-genotype group.	Psychotic Disorder	Genome
771	23032945	9606	Cell lines	DSM-IV	Case-control based	Illumina GoldenGate array	SNP-array	We obtained a significant association for these variants in the combined sample using multiple methods for rare variant analysis.	Bipolar I Disorder	Genome
772	23032945	9606	Cell lines	DSM-IV	Case-control based	Illumina GoldenGate array	SNP-array	We obtained a significant association for these variants in the combined sample using multiple methods for rare variant analysis.	Bipolar II Disorder	Genome
773	23055267	9606	Blood	DSM-IV 	Case-control based	Sanger Sequencing//Genotyping//TaqMan	Sanger Sequencing//Genotyping//TaqMan	Maternal family history is positive for infertility in three siblings and cystic fibrosis in two female siblings. This 91.1 kb duplication encompasses MECP2 and IRAK1 (chrX:152,931,687-153,022,805). 	Autism Spectrum Disorder	Genome
774	23055267	9606	Blood	DSM-IV 	Case-control based	Sanger Sequencing//Genotyping	Sanger Sequencing//Genotyping	This study is the first to report prospective pathogenic variations in MBD6 and SETDB1. These include two novel nonsynonymous alterations in MBD6 (Arg883Trp and Pro943Arg) and one more in SETDB1 (Pro1067del).	Autism Spectrum Disorder	Genome
775	23055267	9606	Blood	DSM-IV 	Case-control based	Sanger Sequencing//Genotyping//TaqMan	Sanger Sequencing//Genotyping//TaqMan	Further evaluation of the region showed that the proband appears to also carry a second, nearby 294 kb duplication (chrX:152,641,759-152,895,758) that covers an additional 17 genes: BCAP31, ABCD1, KIAA1206, PLXNB3, SRPK3, IDH3G, SSR4, PDZD4, KIAA1444, L1CAM, LCAP, AVPR2, ARHGAP4, ARD1A, RENBP, HCFC1, and TMEM187.	Autism Spectrum Disorder	Genome
776	23055267	9606	Blood	DSM-IV	Case-control based	Illumina Human 1M beadchip	SNP-array	Table 1 ASD Unique, Nonsynonymous Variations	Autism Spectrum Disorder	Genome
777	23055267	9606	Blood	DSM-IV	Case-control based	Applied Biosystems 3730xl DNA Analyzer	Sanger Sequencing//Genotyping//TaqMan	Maternal family history is positive for infertility in three siblings and cystic fibrosis in two female siblings. This 91.1 kb duplication encompasses MECP2 and IRAK1 (chrX:152,931,687-153,022,805).	Autism Spectrum Disorder	Genome
778	23055267	9606	Blood	DSM-IV	Case-control based	Applied Biosystems 3730xl DNA Analyzer	Sanger Sequencing//Genotyping	This study is the first to report prospective pathogenic variations in MBD6 and SETDB1. These include two novel nonsynonymous alterations in MBD6 (Arg883Trp and Pro943Arg) and one more in SETDB1 (Pro1067del).	Autism Spectrum Disorder	Genome
779	23055267	9606	Blood	DSM-IV	Case-control based	Applied Biosystems 3730xl DNA Analyzer	Sanger Sequencing//Genotyping//TaqMan	Further evaluation of the region showed that the proband appears to also carry a second, nearby 294 kb duplication (chrX:152,641,759-152,895,758) that covers an additional 17 genes: BCAP31, ABCD1, KIAA1206, PLXNB3, SRPK3, IDH3G, SSR4, PDZD4, KIAA1444, L1CAM, LCAP, AVPR2, ARHGAP4, ARD1A, RENBP, HCFC1, and TMEM187.	Autism Spectrum Disorder	Genome
780	23069674	9606	Blood	MMSE	Case-control based	TaqMan PCR assay	TaqMan	We sought to determine whether the COMT val158met polymorphism (rs4680) is associated with delusions and hallucinations in people with dementia with Lewy bodies (DLB) and Parkinson's disease dementia (PDD).	Neurocognitive Disorder With Lewy Bodies	Genome
781	23077488	9606	Blood	DSM-IV	Case-control based	Human610-Quad//HumanCNV370-Quadv3//Human 317K	SNP-array	No genetic polymorphisms reached genome-wide significance for association with adult antisocial behavior. In addition, none of the traditional candidate genes can be confirmed in our study. While not genome-wide significant, the gene with the strongest association (p-value=8.7<U+00C3>—10(-5)) was DYRK1A, a gene previously related to abnormal brain development and mental retardation. (Table S1 50 strongest SNPs associated with adult antisocial behavior)	Behavioral Disorders	Genome
782	23084284	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	We conclude that the rs4684677 (Gln90Leu) polymorphism in the preproghrelin gene may be associated with increased risk of panic disorder.	Panic Disorder	Genome
783	23089632	9606	Blood	DSM-IV	Family based	Illumina Human OmniExpress array//Illumina 1M array	SNP-array	Table S2. The top 72 genotyped SNPs that associated with symptom count (inflation corrected p<0.0001) in COGA GWAS sample and replication data in SAGE and OZALC samples.	Alcohol Use Disorder	Genome
784	23089632	9606	Blood	DSM-IV	Family based	Illumina Human OmniExpress array//Illumina 1M array	SNP-array	Table S3. The association of SNPs in the C15orf53 gene with symptom count in COGA and SAGE samples.	Alcohol Use Disorder	Genome
785	23090267	9606	Blood	NA	Case-control based	NA	NA	Our observations suggest that the C677T polymorphism of MTHFR gene has no direct relationship to erectile dysfunction, but does exhibit a relationship between this rs1801133 polymorphism and plasma LH concentrations.	Erectile Disorder	Genome
786	23154099	9606	Brain	CY-BOCS//HAM-A//HAM-D	Case-control based	Illumina 610-Quad BeadChip	SNP-array	Table 2 Summary of top SNPs associated with volumetric measures	Obsessive Compulsive Disorder	Genome
787	23154099	9606	Brain	CY-BOCS//HAM-A//HAM-D	Case-control based	Illumina 610-Quad BeadChip	SNP-array	The strongest trend toward association was identified between two SNPs in DLGAP2 (rs6558484 and rs7014992) and OFC white matter volume. Our other top ranked association findings were with ACC, OFC and thalamus. These preliminary results suggest that sequence variants in glutamate candidate genes may be associated with structural neuroimaging phenotypes of OCD.	Obsessive Compulsive Disorder	Genome
788	23183326	9606	Blood	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	C genetic variants in CLOCK 3111T/C display a less robust circadian rhythm than TT and a delayed acrophase that characterizes a€<U+02DC>evening-typea€<U+2122> subjects.	Circadian Rhythm Sleep Wake Disorders	Genome
789	23201551	9606	Blood	DSM-IV	Case-control based	SNP Array 6.0	SNP-array	Associations of rs779867 and rs6782011 with ASDs were significant in all three groups and independent associations of rs779867 and rs6782011 with ASDs were found in the ASD vs. combined controls group, which are in modest linkage disequilibrium (D'>0.5).	Autism Spectrum Disorder	Genome
790	23201551	9606	Blood	DSM-IV	Case-control based	SNP Array 6.0	SNP-array	Table 1 Statistically significant SNPs in the three comparison models.	Autism Spectrum Disorder	Genome
791	23253088	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	Sequence and CGH array analysis revealed a 400 kb deletion located 1.3 Mb telomeric of the chromosome 6q breakpoint, which has not been reported in controls. The deletion affects three genes (GPR63, NDUFA4 and KLHL32) and overlaps a region previously found deleted in a girl with autistic features and speech delay.	Obsessive Compulsive Disorder	Genome
792	23253088	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Sequence and CGH array analysis revealed a 400 kb deletion located 1.3 Mb telomeric of the chromosome 6q breakpoint, which has not been reported in controls. The deletion affects three genes (GPR63, NDUFA4 and KLHL32) and overlaps a region previously found deleted in a girl with autistic features and speech delay.	Obsessive Compulsive Disorder	Genome
793	23305690	9606	Blood	DSM-IV	Case-control based	NA	Genotyping//Meta-analysis	Our finding extends previous research by highlighting that joint effects of 5HTTLPR and TPH2 alleles influence elevations on a measure of a personality trait believed to be a component of impulsivity and related to reduced 5-HT function. However, ours is the first study to document an interaction between these genes, and the first to suggest that such effects act in BN.	Bulimia Nervosa	Genome
794	23307483	9606	Blood	NA	Case-control based	Affymetrix 250K	SNP-array	NPL all LOD max 2.36 was attained between 112.185 (rs5929497) and 119.477 Mb (rs5910841) with a p value of 0.0005.This finding in French families with Dyslexia showed significant linkage on Xq27.3 enclosing FRAXA, and consequently confirmed the DYX9 region as a robust susceptibility locus.	Developmental Dyslexia	Genome
795	23312624	9606	Blood	NA	Case-control based	NA	Genotyping	In conclusion, the results of the present study suggest that the rs6280 SNP is not related with the risk for RLS.	Restless Legs Syndrome	Genome
796	23321619	9606	Blood	DSM-IV-TR	Case-control based	TaqMan 5a€2 nuclease assay	TaqMan	Although our data provide no overall support for association of CDH2 rare variants in these disorders considered as single entities, the clinical features and severity of probands carrying the uncommon non-synonymous variants suggest that CDH2, along with other cadherin and cell adhesion genes, is an interesting gene to pursue as a plausible contributor to OCD, TD and related disorders with repetitive behaviors, including autism spectrum disorders.	Obsessive Compulsive Disorder	Genome
797	23321619	9606	Blood	DSM-IV-TR	Case-control based	TaqMan 5a€2 nuclease assay	TaqMan	Table 1 Summary of identified CDH2 missense variants	Obsessive Compulsive Disorder	Genome
798	23337130	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-values (rs10070190 (CDH9) p=1*10-3, rs4825476 (GRIA3) p=4*10-4, and rs1074815 (TPH2) p=8*10-4) and 2 additional polymorphisms showing nominal significance (rs2834070 (OLIG2) p=2*10-3 and rs11783752 (SCL18A1) p=3*10-3), were found to be related to both AN and OCD.	Obsessive Compulsive Disorder	Genome
799	23337130	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Five SNPs achieved 0.004 (the nominal p-value expected by chance), 3 with empirical significant p-values (rs10070190 (CDH9) p=1*10-3, rs4825476 (GRIA3) p=4*10-4, and rs1074815 (TPH2) p=8*10-4) and 2 additional polymorphisms showing nominal significance (rs2834070 (OLIG2) p=2*10-3 and rs11783752 (SCL18A1) p=3*10-3), were found to be related to both AN and OCD.	Anorexia Nervosa	Genome
800	23337130	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	In addition, rs3825885 (NTRK3, p=9*10-4) was identified as an AN risk variant, and rs11179027 (TPH2, p=2*10-3) as an OCD marker.	Obsessive Compulsive Disorder	Genome
801	23337130	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	In addition, rs3825885 (NTRK3, p=9*10-4) was identified as an AN risk variant, and rs11179027 (TPH2, p=2*10-3) as an OCD marker.	Anorexia Nervosa	Genome
802	23360517	9606	Blood	DSM-IV-TR	Case-control based	Sequenom MassARRAY	MassARRAY	For rs4565946, individuals with the TT genotype showed a significantly higher risk of TD than those with TC plus CC genotypes [odds ratio (OR) =3.077, 95% confidence interval (CI): 1.273-7.437; P=0.009], as did male TD children with the TT genotype (OR=3.228, 95% CI: 1.153-9.040; P=0.020).	Tic Disorder	Genome
803	23360517	9606	Blood	DSM-IV-TR	Case-control based	Sequenom MassARRAY	MassARRAY	The G allele of rs4570625 was significantly more frequent in TD children with higher levels of tic symptoms (Yale Global Tic Severity Scale, YGTSS) than those in controls among the male children (OR=1.684, 95%: 1.097-2.583; P=0.017].	Tic Disorder	Genome
804	23384717	9606	Blood	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	The results showed statistically significant associations for genotypic and allelic distribution between the 1603C>T polymorphism and bipolar disease (p=0.0012 and p=0.034, respectively). There was no association observed between the genotype and allelic frequencies for -1021C>T and 444G>A polymorphisms and bipolar disorder.	Bipolar Disorder	Genome
805	23411042	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	This case-control study enrolled 578 obsessive-compulsive disorder (OCD) patients and 649 controls and genotyped rs10491734, rs2228622, rs301430 and rs301443 to replicate association of the SLC1A1 gene with OCD in ethnic Han Chinese.	Obsessive Compulsive Disorder	Genome
806	23429817	9606	Blood	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	There was no significant difference in MCP-1 -2518G/A genotypic and allelic frequencies between OCD cases and controls (x2=1.123, df=2, P=0.57 by genotype; x2=0.802, df=1, P=0.37 by allele).Our results indicated that MCP-1 -2518G/A may not play a major role in the genetic predisposition of the Chinese Han population to OCD.	Obsessive Compulsive Disorder	Genome
807	23487199	9606	Blood	NA	Case-control based	NA	qPCR	There was no association between val66met polymorphism and development of paranoid schizophrenia in either men or women.	Paranoid Schizophrenia	Genome
808	23505263	9606	Blood	DSM-IV-TR	Family based	MASSArray	MASSArray	TABLE I. List of CNVs Containing At Least 10 Probes, Not Present in 270 HapMap Controls	Schizophrenia	Genome
809	23505263	9606	Blood	DSM-IV-TR	Family based	MASSArray	MASSArray	TABLE I. List of CNVs Containing At Least 10 Probes, Not Present in 270 HapMap Controls	Schizophrenia	Genome
810	23516558	9606	Blood	DSM-IV	Case-control based	Illumina 660 genome-wide SNP array	SNP-array	We also observed marginal evidence of association of the rs1614972 minor allele with lower alcohol consumption in the non-alcoholic controls (p=0.081), and independently in the alcohol-dependent cases (p=0.046).	Alcohol Use Disorder	Genome
811	23516558	9606	Blood	DSM-IV	Case-control based	Illumina 660 genome-wide SNP array	SNP-array	Table 1 SNPs with P<0.1 in our Replication Study.	Alcohol Use Disorder	Genome
812	23533600	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	Table 2 Chromosomal regions harbouring large (>500 kb) CNVs overlapping annotated gene exons in at least two TS cases and not in controls.	Tourette's Disorder	Genome
813	23533600	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	Table 3 Regions harbouring smaller CNVs (<500 kb) overlapping gene exons in at least two TS cases but not in controls.	Tourette's Disorder	Genome
814	23533600	9606	Blood	DSM-IV	Case-control based	Illumina Human660 arrays	SNP-array	Table 2 Chromosomal regions harbouring large (>500 kb) CNVs overlapping annotated gene exons in at least two TS cases and not in controls.	Tourette's Disorder	Genome
815	23533600	9606	Blood	DSM-IV	Case-control based	Illumina Human660 arrays	SNP-array	Table 3 Regions harbouring smaller CNVs (<500 kb) overlapping gene exons in at least two TS cases but not in controls.	Tourette's Disorder	Genome
816	23535821	9606	Blood	DSM-IV-TR//ADI-R//ADOS	Case-control based	SNP-array	SNP-array	Table S4: Rare, potentially pathogenic events in the CHARGE cohort (Hotspot 1.0 array).	Autism Spectrum Disorder	Genome
817	23535821	9606	Blood	DSM-IV-TR//ADI-R//ADOS	Case-control based	Array	SNP-array	Table S4: Rare, potentially pathogenic events in the CHARGE cohort (Hotspot 1.0 array).	Autism Spectrum Disorder	Genome
818	23564280	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The present study provided suggestive evidence that the rs10491734 was significantly associated with early-onset OCD in the Han Chinese population. However, these findings need further replication.	Obsessive Compulsive Disorder	Genome
819	23568192	9606	Brain	DSM-IV	Case-control based	SNP Array	SNP-array	We identified a totalbof 49 SNPs (Supplementary Table S3) in strong LD (r2a‰￥ 0.90) with highly similar frequencies (20.6-22.4%), including the risk SNPs for BD (for example, rs2709370 and rs6785).	Bipolar Disorder	Genome
820	23568457	9606	Blood	NA	Case-control based	Illumina 370K//370K-duo chips//Illumina 317K chip	SNP-array	Table 3 Gene-based associations at p<10-3 [plus other top 100 genes in same block] for each phenotype.	Anorexia Nervosa	Genome
821	23568457	9606	Blood	NA	Case-control based	Illumina 370K//370K-duo chips//Illumina 317K chip	SNP-array	Table 2 Single-SNP Association Peaks for individual 1000 Genomes SNPs - peaks highlighted in bold are plotted in Figure 3	Bulimia Nervosa	Genome
822	23568457	9606	Blood	NA	Case-control based	Illumina 370K//370K-duo chips//Illumina 317K chip	SNP-array	Table 3 Gene-based associations at p<10-3 [plus other top 100 genes in same block] for each phenotype.	Bulimia Nervosa	Genome
823	23568457	9606	Blood	NA	Case-control based	Illumina 370K//370K-duo chips//Illumina 317K chip	SNP-array	Table 2 Single-SNP Association Peaks for individual 1000 Genomes SNPs - peaks highlighted in bold are plotted in Figure 3	Eating Disorder	Genome
824	23568457	9606	Blood	NA	Case-control based	Illumina 370K//370K-duo chips//Illumina 317K chip	SNP-array	Table 2 Single-SNP Association Peaks for individual 1000 Genomes SNPs - peaks highlighted in bold are plotted in Figure 3	Anorexia Nervosa	Genome
825	23568457	9606	Blood	NA	Case-control based	NA	NA	We found a significant nominal association between five polymorphisms (rs6191,rs258813, rs33388, rs41423247 and rs10052957) and an increased risk of AN.	Anorexia Nervosa	Genome
826	23576132	9606	Blood	DSM-IV-TR	Case-control based	NA	qPCR	In order to know whether the PARP1 SNP rs1805404 was associated with TS, the v2 test was used. It is because the mode of inheritance for this SNP was unknown and this test is a disease model free approach. The results(Table 1) showed that this SNP had an association (P=0.0380) with TS.	Tourette's Disorder	Genome
827	23588557	9606	NA	McKeith criteria	Case-control based	WES//Meta-analysis	WES//Meta-analysis	Mutations in GBA1 are a significant risk factor for DLB. GBA1 mutations likely play an even larger role in the genetic etiology of DLB than in PD, providing insight into the role of glucocerebrosidase in Lewy body disease.	Neurocognitive Disorder With Lewy Bodies	Genome
828	23606572	9606	Blood	NA	Case-control based	NA	Genotyping//Meta-analysis	This revealed weak association between OCD and one of nine tested SLC1A1 polymorphisms (rs301443; uncorrected P=0.046; non-significant corrected P). Secondary analyses of male-affecteds only (N=358 trios and 133 cases) demonstrated modest association between OCD and a different SNP (rs12682807; uncorrected P=0.012; non-significant corrected P).	Obsessive Compulsive Disorder	Genome
829	23630162	9606	Blood	DSM-IV-TR	Case-control based	NA	Genotyping	The higher-expressing 5-HTTLPR/rs25531 LA allele was more prevalent in TD probands than controls (<U+00CF><U+2021>2=5.75, p=0.017, OR=1.35), and in a secondary analysis, surprisingly found to be significantly more frequent in probands with TD alone than in those with TD plus OCD (Fisher's exact test, p=0.0006, OR=2.29).	Obsessive Compulsive Disorder	Genome
830	23630162	9606	Blood	DSM-IV-TR	Case-control based	NA	qPCR	This report describes associations between TD and SLC6A4 at two different levels: first, there is an association of TD with the SLC6A4 greater-expressing promoter region LA allele, and also a haplotypic association of TD with the LAC variant (5-HTTLPR/ rs25531/rs25532).	Tourette's Disorder	Genome
831	23639254	9606	Blood	DSM-IV	Case-control based	Infinium 100 K chip array	SNP-array	In the genotype analysis, nine of 10 SNPs, except rs3012133,were significantly associated with ASD (0.054P-value40.001)(Supplementary Table 2).	Autism Spectrum Disorder	Genome
832	23647133	9606	Buccal swabs	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The number of haplotypes (0, 1, or 2) defined by the presence of the nine repeat allele of rs28363170 (VNTR in the 3a€2UTR) and the C allele of rs27072 (SNP in the 3a€2UTR) was significantly associated with both the diagnosis of PTSD and total PTSD symptoms.	Posttraumatic Stress Disorder	Genome
833	23647975	9606	Blood	NA	Case-control based	Illumina GoldenGate array	SNP-array	Table 2 SNPs most strongly associated (top 20 shown) with PTSD in trauma-exposed individuals (N=1749) - additive models controlling for case status and sex	Posttraumatic Stress Disorder	Genome
834	23668908	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	The COMT Met158 allele was over-represented in patients with BPD in comparison to normal subjects (68.4% vs 44.4%,respectively; Fisher exact test, p=.02).	Borderline Personality Disorder	Genome
835	23673188	9606	Blood	ICD-10	Case-control based	NA	qPCR	For the other studied polymorphisms (VEGFA +936C/T; rs3025039), the Hardy-Weinberg equilibrium value was analogically: rDD <U+00CF><U+2021>2=0.8, p=0.38; and CG <U+00CF><U+2021>2=3.1, p=0.08.	Depressive Disorder	Genome
836	23680103	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Case-control analyses with 308 healthy control subjects reveal a highly significant association of the Asn107 variant with early onset OCD (odds ratio=2.36, p=0.0004) while late onset OCD or the OCD group as a whole were unrelated to the NPSR1 genotype.	Obsessive Compulsive Disorder	Genome
837	23683269	9606	Blood	DSM-IV-TR	Case-control based	TaqMan Genotyping Assay	TaqMan	There were no significant associations between rs1800497 and change in BPND during reward-associated dopamine release. Conceivably, the A1 allele predisposes to depression and addiction via its effect on the post-synaptic D2 receptor.	Major Depressive Disorder	Genome
838	23689535	9606	Blood//Cell lines(EBV immortalized B cells) 	DSM-II-IR//DSM-IV	Case-control based	SNP-array	SNP-array	Table 1 Disease-related CNVs observed in patients with COS	Schizophrenia	Genome
839	23689535	9606	Blood//Cell lines(EBV immortalized B cells) 	DSM-II-IR//DSM-IV	Case-control based	SNP-array	SNP-array	Table 1 Disease-related CNVs observed in patients with COS	Autism Spectrum Disorder	Genome
840	23689535	9606	Blood//Cell lines(EBV immortalized B cells) 	DSM-II-IR//DSM-IV	Case-control based	SNP-array	SNP-array	Table 1 Disease-related CNVs observed in patients with COS	Intellectual Disability	Genome
841	23689535	9606	Blood//Cell lines(EBV immortalized B cells)	DSM-II-IR//DSM-IV	Case-control based	Illumina Human//HumanOmni 2.5S BeadChips	SNP-array	Table 1 Disease-related CNVs observed in patients with COS	Intellectual Disability	Genome
842	23689535	9606	Blood//Cell lines(EBV immortalized B cells)	DSM-II-IR//DSM-IV	Case-control based	Illumina Human//HumanOmni 2.5S BeadChips	SNP-array	Table 1 Disease-related CNVs observed in patients with COS	Schizophrenia	Genome
843	23689535	9606	Blood//Cell lines(EBV immortalized B cells)	DSM-II-IR//DSM-IV	Case-control based	Illumina Human//HumanOmni 2.5S BeadChips	SNP-array	Table 1 Disease-related CNVs observed in patients with COS	Autism Spectrum Disorder	Genome
844	23726511	9606	Blood//Cell lines//Saliva	DSM-IV	Case-control based	Illumina Omni1-Quad microarray	Microarray	Table 3 Top Ten Most Significant SNPs in the GWAS Results of the African Americans	Posttraumatic Stress Disorder	Genome
845	23726511	9606	Blood//Cell lines//Saliva	DSM-IV	Case-control based	Illumina Omni1-Quad microarray	Microarray	Table 2 Top Ten Most Significant SNPs in the GWAS Discovery Results for European Americans	Posttraumatic Stress Disorder	Genome
846	23727532	9606	Blood	NA	Case-control based	Illumina vHuman610-Quad BeadChip	SNP-array	Table 1 Variants of interest and genotypes in all included subjects.	Obsessive Compulsive Disorder	Genome
847	23727532	9606	Blood	NA	Case-control based	Illumina vHuman610-Quad BeadChip	SNP-array	FA was optimally predicted (based on the highest false discovery rate critical p), by five SNPs (rs1017412, rs2114252, rs16941261, rs3784406, and rs7176429; overall FDR critical p=0.028).	Obsessive Compulsive Disorder	Genome
848	23728906	9606	Blood	NA	Case-control based	Illumina 317K//370K//610K arrays	SNP-array	Table 6 The 5 most significant genes from the gene-based test for each of the traits analysed	Insomnia Disorder	Genome
849	23728934	9606	Blood	DSM-IV//ADHD-RS-IV	Case-control based	Affymetrix 6.0 Array	Affymetrix 6.0 Array	This study aimed to discover common and rare DNA variants associated with ADHD in a large homogeneous Han Chinese ADHD case-control sample. The sample comprised 1,040 cases and 963 controls. All cases met DSM-IV ADHD diagnostic criteria. We used the Affymetrix6.0 array to assay both single nucleotide polymorphisms (SNPs) and copy number variants (CNVs). Genome-wide association analyses were performed using PLINK. SNP-heritability and SNP-genetic correlations with ADHD in Caucasians were estimated with genome-wide complex trait analysis (GCTA). Pathway analyses were performed using the Interval enRICHment Test (INRICH), the Disease Association Protein-Protein Link Evaluator (DAPPLE), and the Genomic Regions Enrichment of Annotations Tool (GREAT).	Attention-Deficit/Hyperactivity Disorder	Genome
850	23728934	9606	Blood	DSM-IV//ADHD-RS-IV	Case-control based	SNP-array	SNP-array	We did not find genome-wide significance for single SNPs but did find an increased burden of large, rare CNVs in the ADHD sample (P=0.038). (ST2. Association analysis of rare CNV segments in cases and controls)	Attention-Deficit/Hyperactivity Disorder	Genome
851	23728934	9606	Blood	DSM-IV//ADHD-RS-IV	Case-control based	Affymetrix6.0 array	SNP-array	ST1. Top hit SNPs (P<10-5) from genome-wide association study of ADHD in Han Chinese case-control sample	Attention-Deficit/Hyperactivity Disorder	Genome
852	23728934	9606	Blood	DSM-IV//ADHD-RS-IV	Case-control based	Affymetrix6.0 array	SNP-array	We did not find genome-wide significance for single SNPs but did find an increased burden of large, rare CNVs in the ADHD sample (P=0.038). (ST2. Association analysis of rare CNV segments in cases and controls)	Attention-Deficit/Hyperactivity Disorder	Genome
853	23732877	9606	Blood	NA	Case-control based	Illumina GAII//HiSeq 2000	SNP-array	We did detect a novel, locus-wide empirical association P=0.026 (OR=3.48, 95% CI=1.95-6.23, unadjusted P=6.3<U+00C3>—10-5) between intronic variant rs16856199 and rMDD.//Our study identified a novel association between intronic SNP rs16856199 and rMDD in hospital-referral subjects.	Major Depressive Disorder	Genome
854	23738518	9606	Blood	NA	Case-control based	Illumina 610-Quad BeadChip	SNP-array	Table 1 Description and results (<U+00CE>2, SE and P) of the top SNPs (P<6.09<U+00C3>—10-6) associated with reading and language measures	Developmental Dyslexia	Genome
855	23738518	9606	Blood	NA	Case-control based	Illumina 610-Quad BeadChip	SNP-array	Table 1 Description and results (<U+00CE>2, SE and P) of the top SNPs (P<6.09<U+00C3>—10-6) associated with reading and language measures	Developmental Dyslexia	Genome
856	23738518	9606	Blood	NA	Case-control based	Illumina 610-Quad BeadChip	SNP-array	Table 1 Description and results (<U+00CE>2, SE and P) of the top SNPs (P<6.09<U+00C3>—10-6) associated with reading and language measures	Language Disorder	Genome
857	23752247	9606	Blood	DSM-IV	Case-control based	Illumina BeadChip	SNP-array	Supplemental table 4. A list of 327 SNPs with P<1x10-5 for the studied 17 smoking-related traits.	Tobacco Use Disorder	Genome
858	23772785	9606	Blood	NA	Case-control based	NA	Genotyping	Our analyses indicate that the BDNF Val66Met variant is not associated with AN at detectable levels.	Anorexia Nervosa	Genome
859	23822756	9606	Buccal swabs//Lymphocytes//Saliva	NA	Case-control based	Illumina GoldenGate assay	SNP-array	In the Final model, the predictive power of the resulting latent genetic construct that included the eight SNPS was stronger and accounted for slightly more of the total variation of the latent antisocial variable than the Initial model. The four additional genes included in the Final model were: Nuclear receptor subfamily 3, group C, member 2 (NR3C2, OMIM 600983, Gen-Bank accession NG_013350, chromosome 4q31.23, SNP: rs3843413); Neural cell adhesion molecule 1 (NCAM1, OMIM 116930; Gen-Bank accession NG_032036, chromosome 11q23.1, SNP: rs1545086); Cholinergic receptor, nicotinic, alpha 7 (CHRNA7, OMIM118511; Gen-Bank accession NM_148911.1, chromosome 15q13.3, SNP: rs1514246); and Sulfide quinone reductase-like (yeast) (SQRDL, Gen-Bank accession NM_021199, chromosome 15q13.3, SNP: rs626808).	Antisocial Personality Disorder	Genome
860	23825391	9606	Blood	DSM-IV//DSM-IV-TR	Family based	NA	Genotyping	Interrogating 12 tagging SNPs (tSNP) across the HDC region, we find strong over-transmission of alleles at two SNPs (rs854150 and rs1894236) in the complete sample, as well as a statistically significant associated haplotypes.	Tourette's Disorder	Genome
861	23852793	9606	Blood	NA	Case-control based	NA	qPCR	A polymorphism at position rs28365054 in the TDP1 gene had a significant difference (P<0.05) in the genotype distributions between the TS patients and the control group. The AG genotype was a risk factor for TS with an odds ratio of 2.26 for the AG versus AA genotype (95% CI 1.08-4.72).	Tourette's Disorder	Genome
862	23855403	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Results from gene-based association tests showed that the association signal derived mostly from DISC1(P=0.0010) and GRIN2B (P=0.00085).	Opioid Use Disorder	Genome
863	23856854	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	Table 2. MPH responder/non-responder number by genotypes from double-blind crossover trial	Autism Spectrum Disorder	Genome
864	23906647	9606	Blood//Saliva	DSM-IV-TR	Case-control based	MassARRAY	MassARRAY	Single and multiple marker analyses revealed association between two SNPs located at the 3' region of miR-96 (rs2402959 and rs6965643) and ADHD without SUD. Our results provide preliminary evidence for the contribution of two sequence variants at the miR-183-96-182 cluster to ADHD without comorbid SUD, and emphasize the need to take comorbidities into account in genetic studies to minimize the effect of heterogeneity and to clarify these complex phenotypes.	Attention-Deficit/Hyperactivity Disorder	Genome
865	23906647	9606	Blood//Saliva	DSM-IV-TR	Case-control based	Sequenom MassARRAY	MassARRAY	Single and multiple marker analyses revealed association between two SNPs located at the 3a€2 region of miR-96 (rs2402959 and rs6965643) and ADHD without SUD.	Attention-Deficit/Hyperactivity Disorder	Genome
866	23910899	9606	Blood	DSM-IV-TR	Case-control based	NA	SNP-array	Our study suggests that the rs1625579 TT (miR-137 locus) schizophrenia risk genotype is associated with the schizophrenia risk phenotype DLPFC hyperactivation commonly considered a measure of brain inefficiency.	Schizophrenia	Genome
867	23928294	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The case-control analyses revealed a nominal significant association of theHTR3D variant rs1000592 (p.H52R) with OCD (p=0.029) which was also evident after combination of the case-control and the trio-results (p=0.024).	Obsessive Compulsive Disorder	Genome
868	23928294	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The HTR3C variant rs6766410 (p.N163K) was related to sex in the OCD patients (<U+00CF><U+2021>2(2)=7.09, p=0.029).	Obsessive Compulsive Disorder	Genome
869	23940648	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	The frequency of the (GT)26 repeats (rs3219790) in the heroin addiction group was significantly higher than that in the control group (x2=5.360,P=0.021). The allele frequencies of three polymorphisms (rs1102972, rs1650420, and rs3104703 in intron 3) were strongly associated with heroin addiction (P,0.001, 0.0002, and ,0.001, after Bonferroni correction). Three additional SNPs from the same intron (rs1071502, rs6497730, and rs1070487) had nominally significant P values for association (P,0.05), but did not pass the threshold value.	Heroin Addiction	Genome
870	23942012	9606	Blood	NA	Case-control based	NA	Genotyping	In this imputation-based analysis of the WTCCC sample we observed an underrepresentation of the minor allele (Thr147) of the SNP rs6971 in BD, with a frequency of 31.1% in BD and 33.4% in controls (OR 1.1148; p=0.007).	Bipolar Disorder	Genome
871	23951166	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Table 3 Results from the single SNP association analyses (q<0.15).	Persistent Depressive Disorder	Genome
872	23962971	9606	Blood	DSM-IV	Case-control based	NA	qPCR	By single marker analysis we have found an association of rs28536160 of AVPR1b and rs4076452 and rs16940655 of CRHR1 with mood disorders (P=0.036,0.0013, and 0.003, respectively).	Major Depressive Disorder	Genome
873	23967141	9606	Blood	DSM-IV	Case-control based	Illumina HumanHap300 chip//Illumina HumanHap550 chip//Human-610 Quad Beadchip	SNP-array	Table 1. Association analysis in the first-set screening samples (SNPs with nominal significant association).	Schizophrenia	Genome
874	23967141	9606	Blood	NA	Case-control based	Sequenom iPLEX Gold assay	MassARRAY	Table 1. Association analysis in the first-set screening samples (SNPs with nominal significant association).	Bipolar Disorder	Genome
875	23970845	9606	Blood	DSM-III	Family based	WES	WES	They found that three polymorphisms predicted Slc1A1 expression in immortalized lymphoblasts, and that SNP rs301430 predicted expression in brain tissue. Furthermore, in an in vitro assay this SNP was found to influence expression of a reporter gene (88). This SNP was associated with OCD risk in two of the previous genetic association studies.	Obsessive Compulsive Disorder	Genome
876	23970845	9606	Blood	DSM-III	Family based	WES	WES	Furthermore, white matter abnormaltiies have been demonstrated in OCD by diffusion tensor imaging (DTI) (106, 107). In a familybased association study of 57 early-onset OCD trios, 3 SNPs (rs762178, rs1059004 and rs9653711) within the OLIG2 gene were associated with OCD (105). The OLIG2 gene represents a promising candidate gene in early-onset OCD, however, the results of this study have yet to be replicated.	Obsessive Compulsive Disorder	Genome
877	23970845	9606	Blood	DSM-III	Family based	WES	WES	A family-based association study examined two common single nucleotide polymorphisms (SNPs) of TPH2 in the putative transcriptional control region and in intron 2 of the TPH2 gene in 71 earlyonset OCD trios. Analysis of the single nucleotide polymorphisms (SNPs) rs4570625 and rs4565946, revealed a significant preferential transmission of haplotype G-C to children and adolescents with OCD.	Obsessive Compulsive Disorder	Genome
878	23974430	9606	Blood	DSM-IV	Family based	NA	qPCR	The current study examined the influence of gender, negative and positive daily life events, and GABRA2 genotype (SNP rs279871) on alcohol dependence,The SNP used here (rs279871) was chosen because it showed the strongest association with DSM-IV alcohol dependence in prior research, and has been used as a proxy for the LD block.	Alcohol Use Disorder	Genome
879	23974948	9606	Buccal swabs	NA	Case-control based	SNaPshot	SNaPshot	As seen, although the results for each OXTR SNP show higher empathic communication among individuals with the low risk allele, only the OXTR rs1042778 independently differentiated those with high and low risk alleles.	Communication Disorder	Genome
880	23979607	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	NA	Genotyping	We identified a two-SNP haplotype proxy for 5HTTLPR; the CA haplotype of SNPs rs4251417 and rs2020934 is coupled with the short allele of 5HTTLPR (r(2)=.72). We found evidence for association (p=.0062, after accounting for multiple testing) for SLC6A4 SNPs rs6354 and rs2020936 (positioned in a different linkage disequilibrium [LD] block about 15.5 kb from 5HTTLPR) with anxiety and/or depression and neuroticism, with the strongest association for recurrent depression with onset in young adulthood (odds ratio=1.55, 95% confidence interval=1.16-2.06).	Anxiety Disorder	Genome
881	23979607	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	NA	Genotyping	We identified a two-SNP haplotype proxy for 5HTTLPR; the CA haplotype of SNPs rs4251417 and rs2020934 is coupled with the short allele of 5HTTLPR (r(2)=.72). We found evidence for association (p=.0062, after accounting for multiple testing) for SLC6A4 SNPs rs6354 and rs2020936 (positioned in a different linkage disequilibrium [LD] block about 15.5 kb from 5HTTLPR) with anxiety and/or depression and neuroticism, with the strongest association for recurrent depression with onset in young adulthood (odds ratio=1.55, 95% confidence interval=1.16-2.06).	Depressive Disorder	Genome
882	23990902	9606	Blood	DSM-IV	Case-control based	ABI 3730	MassARRAY	We found that the combined mutation load in OCD relative to controls was significant (p=0.036). We identified a missense N400I change in an individual with OCD, which was not found in more than 1000 control samples (P<0.05). In addition, we showed the the N400I variant failed to enhance neurite outgrowth in primary neuronal cultures, in contrast to wildtype SLITRK1, which enhanced neurite outgrowth in this assay.	Obsessive Compulsive Disorder	Genome
883	23999029	9606	Blood	DSM-IV-TR	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Single SNP analysis in case-control study showed an association between rs6265 and OCD with a high frequency of Val/Val genotype and Val allele (p=0.0001 and p=0.0001, respectively).	Obsessive Compulsive Disorder	Genome
884	23999029	9606	Blood	DSM-IV-TR	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Also, genotype and allele analysis of rs1519480 showed significant differences (p=0.0001, p=0.0001; respectively) between OCD and control groups.	Obsessive Compulsive Disorder	Genome
885	23999524	9606	Blood	DSM-IV	Case-control based	Illumina GAIIX	SNP-array	Table 2 Significant EPHX2 variants from exon-based set test, discovery and replication	Anorexia Nervosa	Genome
886	24007783	9606	Blood	DSM-IV	Case-control based	Illumina OMNI 2.5-8 array	SNP-array	Results showed that rs17303244 was associated with the fear component of internalizing (i.e., defined by symptoms of panic, agoraphobia, specific phobia, and obsessive-compulsive disorder) at a level of significance that withstood correction for gene-wide multiple testing.	Obsessive Compulsive Disorder	Genome
887	24010499	9606	Blood	NA	Case-control based	SNP Array	SNP-array	From a total of 381 SNPs assayed for the 3 NOS-1,-2 and-3 genes, 15 SNPs in the NOS1 gene and 1 SNP for NOS3 gene exhibited statistically significant differences in their frequencies among children with OSA and their matched controls, even after correction for multiple comparisons (Table 2)	Obstructive Sleep Apnea Hypopnea	Genome
888	24024963	9606	Blood	WISC-III	Case-control based	Illumina HumanHap550 BeadChip	SNP-array	Table 2 Associations with comorbid RD and LI cases in ALSPAC (n=174)	Developmental Dyslexia	Genome
889	24024963	9606	Blood	WISC-III	Case-control based	Illumina HumanHap550 BeadChip	SNP-array	Table 2 Associations with comorbid RD and LI cases in ALSPAC (n=174)	Language Disorder	Genome
890	24024963	9606	Blood	WISC-III	Case-control based	Illumina HumanHap550 BeadChip	SNP-array	Table 4 Associations with RD cases in ALSPAC, excluding comorbid LI cases (n=353)	Developmental Dyslexia	Genome
891	24024963	9606	Blood	WISC-III	Case-control based	Illumina HumanHap550 BeadChip	SNP-array	Table 3 Associations with LI cases in ALSPAC, excluding comorbid RD cases (n=163)	Language Disorder	Genome
892	24045616	9606	Blood	NA	Case-control based	Illumina Omni2.5 microarray	Microarray	In a single SNP analysis, the EGLN2 SNP rs3733829 is significantly associated with categorical CPD in the University of Wisconsin Transdisciplinary Tobacco Use Research Center (UW-TTURC)subjects (P=0.026, b=0.06+0.03, n=1395, Table 1)	Tobacco Use Disorder	Genome
893	24052733	9606	Blood	DSM-IV	Case-control based	NA	RFLP//PAGE	According to our statistical results, there is a positive relationship between OCD and the -308 polymorphism (p <0.001) but no association between OCD and the -850 polymorphism (p=0.053). There is no positive relationship between antistreptolysin O (ASO) titers and the -308 polymorphism (p=0.953) but there is an important significance between the -850 polymorphism and ASO (p=0.010). There is no positive relationship between gender of patients and OCD (p=0.180) and no positive association between ASO and gender (p=0.467).	Obsessive Compulsive Disorder	Genome
894	24080187	9606	Blood//Saliva	DSM-IV	Case-control based	SNP Array	SNP-array	Table 2 Loci with strongest evidence of association (p-value<1<U+00C3>—10-5) with PTSD in the DNHS.	Posttraumatic Stress Disorder	Genome
895	24086514	9606	Buccal swabs	DSM-IV	Case-control based	NA	qPCR	Table 1 List of the selected candidate genes and polymorphisms.	Opioid Use Disorder	Genome
896	24086514	9606	Buccal swabs	DSM-IV	Case-control based	NA	qPCR	We observed significantly more homozygous carriers of the OPRD1 rs2236861 major allele (CC genotype) in the patient group and more homozygous carriers of the minor allele (TT genotypes) in the control group (p=0.004, <U+00CF><U+2021>2 =11.09, df=2).	Opioid Use Disorder	Genome
897	24086514	9606	Buccal swabs	DSM-IV	Case-control based	NA	qPCR	Regarding the OPRM1 rs9479757 SNP we found a significantly lower GA genotype frequency (p=0.028, <U+00CF><U+2021>2 =4.81, df=1) and a higher GG genotype frequency in the patients compared to the controls.	Opioid Use Disorder	Genome
898	24086514	9606	Buccal swabs	DSM-IV	Case-control based	NA	qPCR	We found a higher prevalence of CT genotypes and less CC carriers of the ABCB1 rs1045642 variant in the patient group (p=0.026, <U+00CF><U+2021>2 =7.26, df=2).	Opioid Use Disorder	Genome
899	24086514	9606	Buccal swabs	DSM-IV	Case-control based	NA	qPCR	GAL, rs948854,For this GAL SNP significant genotype frequency differences where observed, which also remained significant after adjustment for multiple testing (p=0.001, <U+00CF><U+2021>2=13.38, df=2).	Opioid Use Disorder	Genome
900	24100940	9606	Blood		Case report	SNP-array	SNP-array	We describe a case of PKD/IC and 16p11.2 deletion syndrome and discuss modifiers of PRRT2 activity to explain the rare concurrence of both syndromes.	Motor Disorders	Genome
901	24100940	9606	Blood	NA	Case report	SNP Array	SNP-array	We describe a case of PKD/IC and 16p11.2 deletion syndrome and discuss modifiers of PRRT2 activity to explain the rare concurrence of both syndromes.	Motor Disorders	Genome
902	24143882	9606	Blood	DSM-IV	Case-control based	Illumina HumanOmni1-Quad v1.0 microarray	Microarray	Table 1 Genomewide significant association results for measures of opioid dependence - adjusted symptom count model.	Opioid Use Disorder	Genome
903	24166409	9606	Blood	DSM-IV	Case-control based	Illumina HumanOmni1-Quad v1.0 microarray	Microarray	Table 3 a. Results including replications samples: ordinal results	Alcohol Use Disorder	Genome
904	24166409	9606	Blood	DSM-IV	Case-control based	Illumina HumanOmni1-Quad v1.0 microarray	Microarray	Table 3 b. Results including replications samples: case-control results	Alcohol Use Disorder	Genome
905	24166410	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Tables 1 and 2 summarize the SNPs and their frequencies that were assayed for each HPA axis gene. 70 SNPs were assessed, distributed in the following manner: CRH (6 SNPs),CRHR1 (21 SNPs), CRH-R2 (18 SNPs), NR3C2 (MR; 15 SNPs), NR3C1 (GR; 10 SNPs),and FKBP5 (2 SNPs).	Major Depressive Disorder	Genome
906	24176535	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	We found that rs1927914 AA and rs11536891 TT genotype are more frequent in BD patients than in controls (corrected p; pc<.02 and .002 respectively) particularly in early-onset BD patients (pc=.004 and .006) born during the summer season (pc=.02 and .002 respectively).	Bipolar Disorder	Genome
907	24184878	9606	Blood//Brain	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	These data show that the TFAM SNP rs2306604 A allele may be a risk factor for PDD, particularly in males, but not for DLB.	Neurocognitive Disorder Due to Parkinson's Disease	Genome
908	24184878	9606	Blood//Brain	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	These data show that the TFAM SNP rs2306604 A allele may be a risk factor for PDD, particularly in males, but not for DLB.	Neurocognitive Disorder With Lewy Bodies	Genome
909	24188901	9606	Blood	DSM-IV 	Case-control based	aCGH//SNP-array	aCGH//SNP-array	Table 4 Summary of Abnormal Microarray Data for Learning Disability (N=32 of 150 subjects)	Learning Disorder	Genome
910	24188901	9606	Blood	DSM-IV 	Case-control based	aCGH//SNP-array	aCGH//SNP-array	Table 1 Summary of Abnormal Microarray Data for Autism Spectrum Disorders (N=13 of 65 subjects)	Autism Spectrum Disorder	Genome
911	24188901	9606	Blood	DSM-IV	Case-control based	aCGH//105K array//180K array	aCGH//SNP-array	Table 4 Summary of Abnormal Microarray Data for Learning Disability (N=32 of 150 subjects)	Learning Disorder	Genome
912	24188901	9606	Blood	DSM-IV	Case-control based	aCGH//105K array//180K array	aCGH//SNP-array	Table 1 Summary of Abnormal Microarray Data for Autism Spectrum Disorders (N=13 of 65 subjects)	Autism Spectrum Disorder	Genome
913	24189344	9606	Blood	DSM-IV-TR	Family based	Illumina HumanHap CNV370K BeadChip	SNP-array	Table2. Association signal (P<U+00EF><U+00BC><U+0153>10<U+00C3>—10-5) P-values and meta-analys is of five independent cohorts(genotyped SNPs only)	Autism Spectrum Disorder	Genome
914	24204295	9606	Blood	DSM-IV	Case-control based	Illumina ImmunoChip//Affymetrix 6.0 arrays	SNP-array	Table 1. Replicated association and combined analysis at five SNP loci.	Narcolepsy	Genome
915	24204716	9606	Blood	NA	Family based	Affymetrix Axiom EUR array	SNP-array	Table 1. Top results (P,1025) from CMH test of allele frequencies in main effect and transgenerational effect models.	Autism Spectrum Disorder	Genome
916	24205873	9606	Blood	DSM-IV	Case-control based	NA	qPCR	The A allele was present at a higher frequency than the G allele in the TS patients compared with the control group (odds ratio [OR]=1.91, 95% confidence interval [CI]: 1.14-3.21). The AA genotype was associated with susceptibility to TS with an OR of 2.38 for the AA versus AG genotype (95% CI: 1.29-4.41).	Tourette's Disorder	Genome
917	24229495	9606	Blood	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	Table 2. Genotype distributions of DRD2/ANKK1 Taq-IA and 5-HTTLPR polymorphisms in patients with bipolar disorder and healthy controls by gender	Bipolar Disorder	Genome
918	24253422	9606	Blood	NA	Family based	ABI Assays	MassARRAY	Table 3 ND-associated p values under the three genetic models for the first given allele of each SNP in CHRNA2 and CHRNA6 with ND in the replication case-control sample	Tobacco Use Disorder	Genome
919	24256404	9606	Blood//Buccal swabs	DSM-IV	Case-control based	Illumina HumanHap300 chip//Illumina HumanHap550 chip//Human-610 Quad Beadchip	SNP-array	Table 2: Top 10 SNPs per disorder and their association to SNPs in coding regions of CTNND2	Major Depressive Disorder	Genome
920	24256404	9606	Blood//Buccal swabs	DSM-IV	Case-control based	Illumina HumanHap300 chip//Illumina HumanHap550 chip//Human-610 Quad Beadchip	SNP-array	Table 2: Top 10 SNPs per disorder and their association to SNPs in coding regions of CTNND2	Bipolar Disorder	Genome
921	24256404	9606	Blood//Buccal swabs	DSM-IV	Case-control based	Illumina HumanHap300 chip//Illumina HumanHap550 chip//Human-610 Quad Beadchip	SNP-array	Table 2: Top 10 SNPs per disorder and their association to SNPs in coding regions of CTNND2	Schizophrenia	Genome
922	24256404	9606	Blood	DSM-IV	Case-control based	WGS	WGS	Single nucleotide polymorphism rs1012176 in CTNND2 showed the strongest association with anxiety disorders (odds ratio: 0.8128, SE=0.063, P=0.00099) (Fig. 1).Table 2 provides the RSnumbers and locations for the 10 SNPs showing strongest association with anxiety disorders.	Anxiety Disorder	Genome
923	24256404	9606	Blood//Buccal swabs	DSM-IV	Case-control based	Illumina HumanHap300 chip//Illumina HumanHap550 chip//Human-610 Quad Beadchip	SNP-array	Table 2: Top 10 SNPs per disorder and their association to SNPs in coding regions of CTNND2	Anxiety Disorder	Genome
924	24277619	9606	Saliva//Blood	DSM-IV//DIGS	Case-control based	Illumina Cyto12 Array//Genotyping//GWAS	Illumina Cyto12 Array//Genotyping//GWAS	ALDH2 is associated to alcohol dependence and is the major genetic determinant of daily maximum drinks in a GWAS study of an isolated rural Chinese sample	Alcohol Use Disorder	Genome
925	24278715	9606	Blood	DSM-IV	Family based	NA	qRT-PCR	Since the traits under study (PAS and PSST) are correlated, a multiple testing adjustment for the three loci investigated would suffice, and indeed, the association with NRG1 does remain after such adjustment.	Schizophrenia	Genome
926	24288753	9606	Blood	NA	Case-control based	NA	qPCR	Sex-stratified analysis revealed statistically significant associations of -1293G>C allele (OR=5.04, 95% CI=1.23-20.70, p=0.03) and -1293GC genotype (OR=5.36, 95% CI=1.28-22.50, p=0.03) with increased risk of EH only in men (Table 2).	Alcohol Use Disorder	Genome
927	24291483	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	The distribution of a single nucleotide polymorphism rs2883187 was compared in OCD patients and normal controls. Clinical features were compared between the subgroups of OCD patients with different genotypes.	Obsessive Compulsive Disorder	Genome
928	24292267	9606	Blood	DSM-IV	Case-control based	MassARRAY	MassARRAY	SPOCK3, a poorly characterized, putatively Ca(2+)-binding extracellular heparan/chondroitin sulfate proteoglycan gene encoded by the human chromosomal region 4q32.3, was found to be associated with polymorphisms among the top ranks in a genome-wide association study (GWAS) on ADHD and a pooled GWAS on personality disorder (PD). We therefore genotyped 48 single nucleotide polymorphisms (SNPs) representative of the SPOCK3 gene region in 1,790 individuals (n aADHD = 624, n PD = 630, n controls = 536).	Attention-Deficit/Hyperactivity Disorder	Genome
929	24292267	9606	Blood	DSM-IV	Case-control based	NA	RT-PCR	In this analysis, we found two SNPs to be nominally associated with aADHD (rs7689440, rs897511) and four PDassociated SNPs (rs7689440, rs897511, rs17052671 and rs1485318);	Attention-Deficit/Hyperactivity Disorder	Genome
930	24292267	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Table 1 Association results in the ADHD and the PD sample	Attention-Deficit/Hyperactivity Disorder	Genome
931	24292267	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Table 1 Association results in the ADHD and the PD sample	Personality Disorder	Genome
932	24292267	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	In this analysis, we found two SNPs to be nominally associated with aADHD (rs7689440, rs897511) and four PD-associated SNPs (rs7689440, rs897511, rs17052671 and rs1485318); the latter even reached marginal significance after rigorous Bonferroni correction.(Table 1 Association results in the ADHD and the PD sample)	Attention-Deficit/Hyperactivity Disorder	Genome
933	24292267	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	In this analysis, we found two SNPs to be nominally associated with aADHD (rs7689440, rs897511) and four PD-associated SNPs (rs7689440, rs897511, rs17052671 and rs1485318); the latter even reached marginal significance after rigorous Bonferroni correction.(Table 1 Association results in the ADHD and the PD sample)	Personality Disorder	Genome
934	24292267	9606	Blood	DSM-IV	Case-control based	NA	RT-PCR	In this analysis, we found two SNPs to be nominally associated with aADHD (rs7689440, rs897511) and four PD-associated SNPs (rs7689440, rs897511, rs17052671 and rs1485318); the latter even reached marginal significance after rigorous Bonferroni correction.(Table 1 Association results in the ADHD and the PD sample)	Attention-Deficit/Hyperactivity Disorder	Genome
935	24293752	9606	Blood	NA	Case-control based	NA	qPCR	A significant association was found for rs3923809 and rs9296249 in BTBD9 (P<0.0001 and P=0.001, respectively); the odds ratio (OR) for rs3923809 was 1.61 (P<0.0001) to 1.88 (P<0.0001) and the OR for rs9296249 was 1.44 (P=0.001) to 1.73 (P=0.002), according to the model of inheritance. The OR for the interaction between rs3923809 in BTBD9 and rs4626664 in PTPRD was 2.05 (P<0.0001) in the additive model, 1.80 (P=0.002) in the dominant model and 2.47 (P=0.004) in the recessive model. (Table 2 Association of all tested single nucleotide polymorphisms with restless legs syndrome in a Korean population)	Restless Legs Syndrome	Genome
936	24297458	9606	Blood		Case-control based	aCGH	aCGH	Table 1 CNVs clinically relevant for DD/ID	Global Developmental Delay	Genome
937	24297458	9606	Blood		Case-control based	aCGH	aCGH	Table 1 CNVs clinically relevant for DD/ID	Intellectual Disability	Genome
938	24297458	9606	Blood		Case-control based	aCGH	aCGH	Table 3 CNVs of unknown clinical significance (likely non-pathogenic) for DD/ID	Global Developmental Delay	Genome
939	24297458	9606	Blood		Case-control based	aCGH	aCGH	Table 3 CNVs of unknown clinical significance (likely non-pathogenic) for DD/ID	Intellectual Disability	Genome
940	24297458	9606	Blood		Case-control based	aCGH	aCGH	Table 2 CNVs potentially pathogenic for DD/ID	Global Developmental Delay	Genome
941	24297458	9606	Blood		Case-control based	aCGH	aCGH	Table 2 CNVs potentially pathogenic for DD/ID	Intellectual Disability	Genome
942	24297458	9606	Blood	NA	Case-control based	aCGH	aCGH	Table 1 CNVs clinically relevant for DD/ID	Global Developmental Delay	Genome
943	24297458	9606	Blood	NA	Case-control based	aCGH	aCGH	Table 1 CNVs clinically relevant for DD/ID	Intellectual Disability	Genome
944	24297458	9606	Blood	NA	Case-control based	aCGH	aCGH	Table 3 CNVs of unknown clinical significance (likely non-pathogenic) for DD/ID	Global Developmental Delay	Genome
945	24297458	9606	Blood	NA	Case-control based	aCGH	aCGH	Table 3 CNVs of unknown clinical significance (likely non-pathogenic) for DD/ID	Intellectual Disability	Genome
946	24297458	9606	Blood	NA	Case-control based	aCGH	aCGH	Table 2 CNVs potentially pathogenic for DD/ID	Global Developmental Delay	Genome
947	24297458	9606	Blood	NA	Case-control based	aCGH	aCGH	Table 2 CNVs potentially pathogenic for DD/ID	Intellectual Disability	Genome
948	24314346	9606	Blood	DSM-IV	Case-control based	TaqMan Genotyping Assay	TaqMan	These results illuminate potential underlying mechanisms of the involvement of the GATA4 gene in the etiology of alcohol dependence via its influence on ANP and amygdala processing.	Alcohol Use Disorder	Genome
949	24315570	9606	Blood	DSM-5	Case-control based	Illumina Human 1M beadchip	SNP-array	Table 3 Top 20 association results from genome wide association study of the DSM-5 cannabis use disorders factor scores in 2018 European-American and 1,035 African-American lifetime cannabis users.	Cannabis Use Disorder	Genome
950	24390676	9606	Blood	NA	Case-control based	TaqMan Genotyping Assay	TaqMan	The current study found that COMT rs4680 was related to both dimensionally and categorically measured gambling and drinking problems.	Gambling Disorder	Genome
951	24391914	9606	Buccal cell//cell lines(HEK 293)	Others	Case-control based	Genotyping//PCR-RFLP	Genotyping//PCR-RFLP	In this study we aimed to investigate if polymorphisms in the regulatory regions of the SNAP-25 gene are in association with normal variability of impulsivity. Genotypes and haplotypes of two polymorphisms in the promoter (rs6077690 and rs6039769) and two SNPs in the 3' UTR (rs3746544 and rs1051312) of the SNAP-25 gene were determined in a healthy Hungarian population (N = 901) using PCR-RFLP or real-time PCR in combination with sequence specific probes.	Attention-Deficit/Hyperactivity Disorder	Genome
952	24391914	9606	Buccal swabs	NA	Case-control based	7300 Real-Time PCR//Luciferase and <U+00CE>2-galactosidase assay	PCR-RFLP//Reporter assay	Table 2 Association analysis between the SNAP-25 SNPs and impulsivity.	Attention-Deficit/Hyperactivity Disorder	Genome
953	24391914	9606	Buccal swabs	NA	Case-control based	7300 Real-Time PCR//Luciferase and <U+00CE>2-galactosidase assay	PCR-RFLP//Reporter assay	On the other hand, one of the 3a€2 UTR (rs1051312) polymorphism showed a nominal association with Barratt-scores of impulsivity (p=0.042) which disappeared after Bonferroni correction for multiple test (4 SNPs: p<0.0125).	Attention-Deficit/Hyperactivity Disorder	Genome
954	24424098	9606	Blood	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The rs3794087 genotype and allelic frequencies did not significantly differ between patients with RLS and controls and were unrelated with the age at onset of RLS, gender, and family history of RLS.	Restless Legs Syndrome	Genome
955	24436253	9606	Blood	DSM-IV	Case-control based	Illumina HumanOmni1-Quad v1.0 microarray	Microarray	Rs41305272 was associated with agoraphobia (Ag) in EAs (odds ratio[OR]=1.95, p=0.007; 195 cases) and AAs (OR=3.2, p=0.03; 148 cases) and major depressive disorder (MDD) in AAs (OR=2.64, p=0.01; 427 cases), but not EAs (465 cases).	Major Depressive Disorder	Genome
956	24436253	9606	Blood	DSM-IV	Case-control based	Illumina HumanOmni1-Quad v1.0 microarray	Microarray	Rs41305272 was associated with agoraphobia (Ag) in EAs (odds ratio[OR]=1.95, p=0.007; 195 cases) and AAs (OR=3.2, p=0.03; 148 cases) and major depressive disorder (MDD) in AAs (OR=2.64, p=0.01; 427 cases), but not EAs (465 cases).	Agoraphobia	Genome
957	24440118	9606	Blood	NA	Case-control based	NA	qPCR	HTR1A gene polymorphism is associated with the IELT in men with LPE. Men with CC genotype have shorter IELTs than men with GG and CG genotypes.	Premature (Early) Ejaculation	Genome
958	24445990	9606	Blood	ICD-10	Case-control based	SNP-array	SNP-array	No association was seen between the presence of CNV (rare or common), the overall number of CNVs or genomic CNV 'burden' and antidepressant response. Specific CNVs were nominally associated with antidepressant response, including 15q13.3 duplications and exonic NRXN1 deletions. (Table 1. NEWMEDS CNV results for specific CNV regions)	Major Depressive Disorder	Genome
959	24445990	9606	Blood	ICD-10	Case-control based	Illumina 610Quad BeadChip	SNP-array	No association was seen between the presence of CNV (rare or common), the overall number of CNVs or genomic CNV 'burden' and antidepressant response. Specific CNVs were nominally associated with antidepressant response, including 15q13.3 duplications and exonic NRXN1 deletions. (Table 1. NEWMEDS CNV results for specific CNV regions)	Major Depressive Disorder	Genome
960	24473444	9606	Blood	DSM-IV	Case-control based	NA	qPCR	In the first study of 2073 European American (EA) and 2459 African American subjects mostly with comorbid drug or alcohol dependence, we observed an association in EAs of rs1133503 with panic disorder (PD) (191 PD cases, odds ratio (OR)=1.7 (95% confidence interval (CI): 1.22-2.41), P=0.002).	Panic Disorder	Genome
961	24514567	9606	Blood	DSM-IV	Case-control based	Illumina 660 genome-wide SNP array	SNP-array	Table 2 Global meta-analysis results of SNPs with the greatest evidence of association for the main anorexia nervosa (AN) case-control analysis	Anorexia Nervosa	Genome
962	24529281	9606	Blood//Saliva	DSM-IV	Case-control based	Sequenom iPLEX Gold chemistry//MassARRAY	MassARRAY	Two single nucleotide polymorphisms at the ACCN2 locus showed evidence of association with PD: rs685012 (odds ratio=1.32, gene-wise corrected p=.011) and rs10875995 (odds ratio=1.26, gene-wise corrected p=.046).	Panic Disorder	Genome
963	24533225	9606	Blood	DSM-IV	Case-control based	RFLP	RFLP	Table 1 Information and genotyping methods for OPRM1, OPRD1and OPRK1 Single Nucleotide Polymorphisms (SNPs).	Alcohol Use Disorder	Genome
964	24549057	9606	Blood	DSM-IV-TR	Case-control based	SNP-array	SNP-array	Through screening of a Danish cohort comprising 188 unrelated Tourette syndrome patients for copy number variations, we identified seven patients with intragenic IMMP2L deletions (3.7%), and this frequency was significantly higher (P=0.0447) compared with a Danish control cohort (0.9%). Four of the seven deletions identified did not include any known exons of IMMP2L, but were within intron 3.	Tourette's Disorder	Genome
965	24549057	9606	Blood	DSM-IV-TR	Case-control based	Affymetrix CytoScan HD array	SNP-array	Through screening of a Danish cohort comprising 188 unrelated Tourette syndrome patients for copy number variations, we identified seven patients with intragenic IMMP2L deletions (3.7%), and this frequency was significantly higher (P=0.0447) compared with a Danish control cohort (0.9%). Four of the seven deletions identified did not include any known exons of IMMP2L, but were within intron 3.	Tourette's Disorder	Genome
966	24552038	9606	Blood	NA	Case-control based	NA	Genotyping	No difference was found in IL-1beta-511 C/T genotypic and allelic frequencies between OCD cases and controls (chi2=0.501, df=2, P=0.78 by genotype; chi2=0.487, df=1, P=0.49 by allele).	Obsessive Compulsive Disorder	Genome
967	24571439	9606	Blood//Buccal swabs	NA	Case-control based	Illumina Human Omni-Express (v12.1) array	SNP-array	Table 1 The SNPs which form the peaks on chromosomes 5 and 14	Language Disorder	Genome
968	24571444	9606	Blood	DSM-IV	Family based	Sequenom MassARRAY	MassARRAY	Table 3. Significant associations with single marker SNPs using parentTDT analysis in 75 early-onset OCD trios	Obsessive Compulsive Disorder	Genome
969	24571444	9606	Blood	DSM-IV	Family based	Sequenom MassARRAY	MassARRAY	Three of these polymorphisms achieved P<2<U+00C3>—10(-4), the significant P-value after Bonferroni corrections: rs8190748 and rs992990 localized in GAD2 and rs2000292 in HTR1B. When we stratified our sample according to gender, different trends were observed between males and females.	Obsessive Compulsive Disorder	Genome
970	24571861	9606	Blood	ICSD-2	Case-control based	NA	qPCR	The mean of the multiple sleep latency test, sleep-onset rapid eye movement periods, and frequency of sleep paralysis significantly differed in the HLA-DQB1*06:02-positive patients. rs5770917, rs5770911,rs2269381,and rs2269382 were detected together as a haplotype in three patients and 11 healthy persons.	Narcolepsy	Genome
971	24576688	9606	saliva	NA	Case-control based	Illumina Omni1-Quad microarray	Microarray	In summary, we found a significant effect of rs406001 (and other SNPs in linkage disequilibrium) interacting with childhood trauma exposure in a large AA cohort.	Posttraumatic Stress Disorder	Genome
972	24581833	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Specifically in BD, the GRN SNP rs5848 was associated with progranulin plasma levels (Kruskal-Wallis test, p<0.005).	Bipolar Disorder	Genome
973	24585043	9606	Blood	DSM-IV	Case-control based	TaqMan Genotyping Assay	TaqMan	A highly significant difference in allele frequencies was shown with SNP rs6465084 (P<0.001, OR=3.063, 95% CI=2.055-4.567), and the frequency of A allele was greater in alcohol-dependent group (92.9%) than in control group (81.8%). In addition, there was also a significant difference in genotype frequencies of SNP rs6465084 (P<0.001, OR=3.249, 95% CI=2.094-5.039).	Alcohol Use Disorder	Genome
974	24586483	9606	Blood	NA	Case-control based	NA	Genotyping	We found a significant difference in the genotypes and allele frequencies of rs57095329 between the AD cases and the controls (p=0.0147 and p=0.0184, respectively), where the AA genotype of rs57095329 was associated with an increased risk of AD as well the cognitive decline in AD patients.	Mild Neurocognitive Disorder Due to Alzheimer's Disease	Genome
975	24599690	9606	Blood	DSM-IV	Family based	SNaPshot	SNaPshot	There were significant associations between autism and the two SNPs of ZNF533 gene (rs11885327: <U+00CF><U+2021> 2=4.5200, P=0.0335; rs1964081: <U+00CF><U+2021> 2=4.2610, P=0.0390) and the SNP of DOCK4 gene (rs2217262: <U+00CF><U+2021> 2=5.3430, P=0.0208).	Autism Spectrum Disorder	Genome
976	24607927	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	we stratified 517 MDD patients and 455 control subjects by gender and symptoms and found 3 SNPs present in the EHD3 gene, of which rs619002 and rs644926 were exclusively associated with female MDD (p=0.0045 and p=0.0074, respectively) and rs649729 (p=0.0029) was closely related to anxious mood of female patients, suggesting a gender-specific role of EHD3 in MDD.	Major Depressive Disorder	Genome
977	24615932	9606	Blood	DSM-IV-TR	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Depression and anxiety symptoms did not differ by BDNF Val66Met and 5-HTTLPR genotypes in either the PMDD patients or healthy controls (Table Ia and b).	Premenstrual Dysphoric Disorder	Genome
978	24618891	9606	Blood	DSM-IV//DSM-IIR	Case-control based	Infinium assays//BeadChips Human660W-Quad//HumanOmni1-Quad	Infinium assays//SNP-array	Table 2 Eighteen GWAS SNPs showing genome-wide evidence for association with BD in the combined MooDS and PGC samples.	Bipolar Disorder	Genome
979	24630744	9606	Blood	DSM-IV	Case-control based	NA	qPCR	There was a significantly higher prevalence of allele C carriers (47.8%) of the miR-146a G>C polymorphism (rs2910164) among patients with AUDs when compared with controls (35.9%), and multivariable logistic regression analysis showed that the C allele was associated with these AUDs (OR=1.615, 95% CI 1.067-2.442; P=0.023). Neither the genotype nor the allele distribution of miR-196a2 polymorphism (rs11614913) was significantly different between groups.	Alcohol Use Disorder	Genome
980	24633560	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Pharmacogenetic analysis in the placebo controlled trial revealed significant association of rs12467557and rs10490162 with drug response, whereby individuals homozygous for the A allele, at either SNP, showed significant improvement in positive symptoms, general psychopathology, thought disturbance, and negative symptoms, whereas patients carrying the G allele showed no overall response.	Schizophrenia	Genome
981	24643514	9606	Blood	DSM-IV 	Case-control based	Microarray//qRT-PCR	Microarray//qRT-PCR	Table 1 Genes in most stringent CNV regions (two or more algorithms) for index patients, not seen in POPGEN or OHI controls, and 芒鈥奥	Autism Spectrum Disorder	Genome
982	24643514	9606	Blood	DSM-IV	Case-control based	Affymetrix single nucleotide polymorphism (SNP) 6.0 microarrays	Microarray//qRT-PCR	Table 1 Genes in most stringent CNV regions (two or more algorithms) for index patients, not seen in POPGEN or OHI controls, and a‰¤50 % overlap in DGV.	Autism Spectrum Disorder	Genome
983	24668623	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	The present study explored the association of SNPs within the TPH2 gene with paranoid schizophrenia in Han Chinese. A total of 164 patients with schizophrenia and 244 healthy controls were genotyped for six TPH2 SNPs (rs4570625, rs11178997, rs11178998, rs41317118, rs17110747,and rs41317114).	Schizophrenia	Genome
984	24668623	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Significant group differences were observed in the allele and genotype frequencies of rs4570625 and in the frequencies of GTA and TTA haplotypes corresponding to rs4570625-rs11178997-rs11178998.	Schizophrenia	Genome
985	24668635	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	Significant group differences were observed in the allele and genotype frequencies of rs77434921 and rs1800762 and in the frequencies of GC haplotypes corresponding to rs77434921-rs1800762.	Schizophrenia	Genome
986	24687270	9606	Blood	DSM-IIIR	Family based	TaqMan Genotyping Assay	TaqMan	Table II Results from the FBAT analysis in the CADD.	Alcohol Use Disorder	Genome
987	24687270	9606	Buccal swabs	NA	Case-control based	TaqMan Genotyping Assay	TaqMan	Although the analysis provided nominal support for an association with rs9291283 and AAD in adulthood and CD in adolescence, the current study failed to replicate previous associations between two well replicated GABRA2 NPs and CD and alcohol dependence.	Conduct Disorder	Genome
988	24687270	9606	Buccal swabs	NA	Case-control based	TaqMan Genotyping Assay	TaqMan	Although the analysis provided nominal support for an association with rs9291283 and AAD in adulthood and CD in adolescence, the current study failed to replicate previous associations between two well replicated GABRA2 NPs and CD and alcohol dependence.	Alcohol Use Disorder	Genome
989	24687270	9606	Blood	DSM-IIIR	Family based	TaqMan Genotyping Assay	TaqMan	Although the analysis provided nominal support for an association with rs9291283 and AAD in adulthood and CD in adolescence, the current study failed to replicate previous associations between two well replicated GABRA2 NPs and CD and alcohol dependence.	Alcohol Use Disorder	Genome
990	24687471	9606	Blood	NA	Case-control based	Affymetrix 6.0 GeneChip//TaqMan SNP Genotyping assay	SNP-array//TaqMan	No SNP associations met the demanding criterion of genome-wide significance that corrects for multiple testing across the genome (p<5<U+00C3>—10-8). The strongest SNP association did not replicate in an additional sample of 2,639 twelve-year-olds.	Language Disorder	Genome
991	24700553	9606	Blood	DSM-IV//ICD-10	Case-control based	Microarray 	Microarray 	TABLE I. List of Selected Stringent CNVs Validated by qPCR from BD Case Data(A. Centre for Addiction & Mental Health (Canada) bipolar set)	Bipolar Disorder	Genome
992	24700553	9606	Blood	DSM-IV//ICD-10	Case-control based	Microarray 	Microarray 	TABLE I. List of Selected Stringent CNVs Validated by qPCR from BD Case Data(B. Institute of Psychiatry (UK) bipolar set)	Bipolar Disorder	Genome
993	24700553	9606	Blood	DSM-IV//ICD-10	Case-control based	Microarray	Microarray	TABLE I. List of Selected Stringent CNVs Validated by qPCR from BD Case Data(A. Centre for Addiction & Mental Health (Canada) bipolar set)	Bipolar Disorder	Genome
994	24700553	9606	Blood	DSM-IV//ICD-10	Case-control based	Microarray	Microarray	TABLE I. List of Selected Stringent CNVs Validated by qPCR from BD Case Data(B. Institute of Psychiatry (UK) bipolar set)	Bipolar Disorder	Genome
995	24704376	9606	Blood	NA	Case-control based	NA	qPCR	Fishera€<U+2122>s exact test showed that the distribution of rs35349697 in both opioid addicts and alcoholics were significantly different when compared to controls, suggesting that this SNP is associated with addiction while distribution of rs143117860 is not.	Heroin Addiction	Genome
996	24722204	9606	Blood//Cell lines(U937/HEK-293T)	NA	Case-control based	TaqMan genotyping primers//AccuStart genotyping ToughMix low ROX	TaqMan	We show that miR-608 targets acetylcholinesterase (AChE) and demonstrate weakened miR-608 interaction with the rs17228616 AChE allele having a single-nucleotide polymorphism (SNP) in the 3a€2-untranslated region (3a€2UTR).	Anxiety Disorder	Genome
997	24767015	9606	Blood	DSM-IV	Case-control based	TaqMan Genotyping Assay	TaqMan	Our results showed a significant gene to gene interaction between the MIR206 rs16882131 and BDNF rs6265 polymorphisms that contribute to BD-I susceptibility and treatment response.	Bipolar Disorder	Genome
998	24767015	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Our results showed a significant gene to gene interaction between the MIR206 rs16882131 and BDNF rs6265 polymorphisms that contribute to BD-I susceptibility and treatment response.	Bipolar I Disorder	Genome
999	24768158	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Rs301430 is a T/C functional polymorphism affecting the gene expression and extrasynaptic glutamate concentration.We observed that Rs301430 influence age at onset in obsessivecompulsive disorder.	Obsessive Compulsive Disorder	Genome
1000	24775911	9606	Blood		Case-control based	aCGH	aCGH	Table 3 List of genomic rearrangements in patients with pathogenic CNVs	Intellectual Disability	Genome
1001	24775911	9606	Blood	NA	Case-control based	aCGH	aCGH	Table 3 List of genomic rearrangements in patients with pathogenic CNVs	Intellectual Disability	Genome
1002	24776741	9606	Blood	DSM-IV//SCID-P	Family based	Illumina HiSeq 2000	SNP-array	Table 1 De novo mutations in the Top 15% Ranked RVIS Genes	Schizophrenia	Genome
1003	24790447	9606	Blood	DSM-IV	Case-control based	ABI PRISM 7900HT	MassARRAY	A significantly lower risk of paranoid schizophrenia was associated with the AG + GG genotype of rs5326 and the AG + GG genotype of rs4532 compared to the AA genotype and the AA genotype, respectively.	Paranoid Schizophrenia	Genome
1004	24790447	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	In females, the genotype distribution of rs4532 was statistically different between cases and controls(P=0.029).	Schizophrenia	Genome
1005	24790447	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	In males, the genotype distribution of rs5326 was statistically different between cases and controls (P=0.048).	Schizophrenia	Genome
1006	24799636	9606	Blood	NA	Case-control based	NA	qPCR	In the current study in men with LPE, we investigated whether the 5-HT2C receptor gene Cys23Ser polymorphism is associated with the duration of the IELT by using a stopwatch to measure the IELT.	Premature (Early) Ejaculation	Genome
1007	24801482	9606	Buccal swabs	NA	Case-control based	Affymetrix GeneChip Human Mapping version 6.0 array	SNP-array	In this analysis, one of the SNPs (rs789859) showed significant association after Bonferroni correction, and four (rs10873824, rs4144887, rs12130910 rs2809115) were nominally significant (lowest p-value 3.278<U+00C3>—10(-4)). Three of the SNPs of interest are located within, or near to, known genes (FAM43A, SFT2D1, C14orf64).	Autism Spectrum Disorder	Genome
1008	24801482	9606	Buccal swabs	NA	Case-control based	Affymetrix GeneChip Human Mapping version 6.0 array	SNP-array	In this analysis, one of the SNPs (rs789859) showed significant association after Bonferroni correction, and four (rs10873824, rs4144887, rs12130910 rs2809115) were nominally significant (lowest p-value 3.278<U+00C3>—10(-4)). Three of the SNPs of interest are located within, or near to, known genes (FAM43A, SFT2D1, C14orf64).	Learning Disorder	Genome
1009	24814139	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	A significant SNP main effect on MMN mean amplitude was found for GRIN3B rs2240158 in a dominant model [beta coefficient= 0.49; 95% confidence interval: ( 0.81,  0.16);nominal P=0.0035, empirical P=0.044].	Schizophrenia	Genome
1010	24817970	9606	Blood	DSM-IV	Case-control based	NA	qPCR	These results suggest that gene polymorphisms of the CAT gene, which is a major antioxidant enzyme, might not be associated with an increased susceptibility to PTSD in the Chongqing Han population.	Posttraumatic Stress Disorder	Genome
1011	24821223	9606	Blood	DSM-IV	Family based	Illumina HumanOmniExpress beadchip	SNP-array	The second most significantly associated SNP (rs6876547, P=1.76<U+00C3>—10-6) is located in a region of cadherin clusters and it is of note, that a second, independent SNP (rs6452234, P=1.13<U+00C3>—10-5, r2<0.2, distance 650kb) is located in the same region.	Obsessive Compulsive Disorder	Genome
1012	24821223	9606	Blood	DSM-IV	Family based	Illumina HumanOmniExpress beadchip	SNP-array	The smallest P-value for our study was observed with a marker on chromosome 9 (rs4401971) at a P-value of 4.13<U+00C3>—10-7. This SNP is 1.28 Mb from the 5a€2 end of the protein tyrosine phosphatase, receptor type, D gene (PTPRD, isoform 1; according to RefSeq).	Obsessive Compulsive Disorder	Genome
1013	24831852	9606	Blood	DSM-IV	Case-control based	TaqMan OpenArray	OpenArray	AGRP rs13338499 polymorphism was associated with lowest illness-related BMI in those with AN (p=0.0013), and NTRK2 rs1042571 was associated with highest BMI in those with BN (p=0.0018).	Bulimia Nervosa	Genome
1014	24840832	9606	Blood		Case report	SNP-array	SNP-array	A 25 Mb deletion of 5p15.33-14.1 and a 13 Mb duplication of 4q34.2-35.2were revealed by the copy number variation analysis of the whole genome in this patient.	Language Disorder	Genome
1015	24840832	9606	Blood	NA	Case report	SNP Array	SNP-array	A 25 Mb deletion of 5p15.33-14.1 and a 13 Mb duplication of 4q34.2-35.2were revealed by the copy number variation analysis of the whole genome in this patient.	Language Disorder	Genome
1016	24845178	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Nineteen SNPs in nine genes showed nominally significant association of genotype with heroin addiction (Table 2).	Heroin Addiction	Genome
1017	24845178	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	The two SNPs also showed nominally significant association in the same direction (P=0.04, OR=1.49; 95% CI, 1.01-2.18 & P=0.03, OR=1.54; 95% CI 1.04-2.30, respectively) with heroin addiction in an independent African-American sample comprising of 314 cases and 208 control individuals that was used for validation and generalization.	Heroin Addiction	Genome
1018	24853458	9606	Blood	DSM-IV-TR	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Subjects were divided into children (under 12 years old), adolescents (between 12 and 18 years old) and adults (older than 18 years), and genotyped for the COMT Val158Met (rs4680) and PRODH Arg185Trp (rs4819756) polymorphisms.	Obsessive Compulsive Disorder	Genome
1019	24866414	9606	Blood	ADI-R	Family based	TaqMan Assay	TaqMan	Our results suggest that ZNF804A could be a potential candidate gene mediating the intermediate phenotypes associated with verbal traits in individuals with autism.	Autism Spectrum Disorder	Genome
1020	24891185	9606	Blood		Case report	SNP-array	SNP-array	We report on a 6-year-old child with a de novo 1.6 Mb deletion in the 3q26.31q26.32 region identified by SNP array, involving only one relevant gene: TBL1XR1.	Intellectual Disability	Genome
1021	24891185	9606	Blood	NA	Case report	SNP Array	SNP-array	We report on a 6-year-old child with a de novo 1.6 Mb deletion in the 3q26.31q26.32 region identified by SNP array, involving only one relevant gene: TBL1XR1.	Intellectual Disability	Genome
1022	24896178	9606	Blood		Case-control based	WES	WES	Extended Data Table 1 Large variants of potential clinical relevance identified using WGS and probability of exonic CNVs occurring in affected and control individuals for these loci.	Intellectual Disability	Genome
1023	24896178	9606	Blood	NA	Case-control based	WGS	WGS	Extended Data Table 2 De novo SNVs of potential clinical relevance identified using WGS	Intellectual Disability	Genome
1024	24896178	9606	Blood	NA	Case-control based	WES	WES	Extended Data Table 1 Large variants of potential clinical relevance identified using WGS and probability of exonic CNVs occurring in affected and control individuals for these loci.	Intellectual Disability	Genome
1025	24926319	9606	Blood		Case-control based	aCGH	aCGH	Additional file 2: CMA with pCNV or VOUS findings for chinese cohort of patients with intellectual disabilities/developmental delay, autism and MCA. 	Global Developmental Delay	Genome
1026	24926319	9606	Blood		Case-control based	aCGH	aCGH	Additional file 2: CMA with pCNV or VOUS findings for chinese cohort of patients with intellectual disabilities/developmental delay, autism and MCA. 	Autism Spectrum Disorder	Genome
1027	24926319	9606	Blood		Case-control based	aCGH	aCGH	Additional file 2: CMA with pCNV or VOUS findings for chinese cohort of patients with intellectual disabilities/developmental delay, autism and MCA. 	Intellectual Disability	Genome
1028	24926319	9606	Blood	NA	Case-control based	aCGH	aCGH	Additional file 2: CMA with pCNV or VOUS findings for chinese cohort of patients with intellectual disabilities/developmental delay, autism and MCA.	Autism Spectrum Disorder	Genome
1029	24926319	9606	Blood	NA	Case-control based	aCGH	aCGH	Additional file 2: CMA with pCNV or VOUS findings for chinese cohort of patients with intellectual disabilities/developmental delay, autism and MCA.	Global Developmental Delay	Genome
1030	24926319	9606	Blood	NA	Case-control based	aCGH	aCGH	Additional file 2: CMA with pCNV or VOUS findings for chinese cohort of patients with intellectual disabilities/developmental delay, autism and MCA.	Intellectual Disability	Genome
1031	24931836	9606	Blood	El Escorial revisited	Case-control based	TaqMan//Meta-analysis	TaqMan//Meta-analysis	TABLE 1 Top association results for independent loci containing SNPs, per disease and in the joint meta-analysis	Frontotemporal Neurocognitive Disorder	Genome
1032	24931836	9606	Blood	NA	Case-control based	TaqMan//Meta-analysis	TaqMan//Meta-analysis	TABLE 1 Top association results for independent loci containing SNPs, per disease and in the joint meta-analysis	Frontotemporal Neurocognitive Disorder	Genome
1033	24942521	9606	Blood	DSM-IV	Case-control based	Genotyping//Taqman	Genotyping//Taqman	The pseudo case-control study showed different allelic and genotypic distributions of SNP rs3785143 between ADHD with ODD and those without ODD. Family-based association tests indicated overtransmission of the T allele of rs3785143 in ADHD with ODD trios, but no biased transmission in those without ODD. ANCOVA showed association between genotypes of rs3785143 with ODD symptoms in ADHD probands, especially with 'Argumentative/Defiant Behavior (ADB)' dimension after controlling gender, age, clinical subtypes and intelligence. Above association still existed after removing the samples with other comorbidities.	Attention-Deficit/Hyperactivity Disorder	Genome
1034	24942521	9606	Blood	DSM-IV	Case-control based	NA	RT-PCR	As indicated in Table 2, comparisons of allele frequencies showed that the T allele of SNP rs3785143 were of higher frequency in ADHD with ODD subjects [p=.004, OR=1.30 (1.10-1.60)].	Attention-Deficit/Hyperactivity Disorder	Genome
1035	24944871	9606	Blood	DSM-IV-TR	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Table 4 Relationships between candidate SNPs, total brain, and fronto-limbic volumes. Minor allele genotypes in CACNA1C were significantly associated with increased total brain volume and with volume of several fronto-limbic regions	Bipolar Disorder	Genome
1036	24944871	9606	Blood	DSM-IV-TR	Case-control based	TaqMan Assay	TaqMan	The ANK3 (rs10994336), BDNF (rs6265), CACNA1C(rs1006737), and DGKH (rs1170191) genotypes were determined using the TaqMan  primer-probe sets (Applied Biosystems) Assay ID C_31344821_10 (rs10994336), C_11592758_10 (rs6265), C_2584015_10(rs1006737), and C_7448168_10 (rs1170191).	Major Depressive Disorder	Genome
1037	24959896	9606	Blood	DSM-IV	Case-control based	Array	SNP-array	Confirming our hypothesis, we found a significant effect of FKBP5 rs1360780 genotype on therapeutic outcome of NET. This effect was present at 10 months, but not 4 months after treatment completion, indicating that the FKBP5 genotype predominantly influences long-term therapeutic outcome.	Posttraumatic Stress Disorder	Genome
1038	24973356	9606	NA	Neuropathologically proven cases association	Case-control based	Illumina NeuroX Array	Illumina NeuroX Array	The results show that the APOE is a strong genetic risk factor for DLB, confirming previous findings, and that the SNCA and SCARB2 loci are also associated after a study-wise Bonferroni correction	Neurocognitive Disorder With Lewy Bodies	Genome
1039	24973356	9606	NA	Neuropathologically proven cases association	Case-control based	Illumina NeuroX Array	Illumina NeuroX Array	The results show that the APOE is a strong genetic risk factor for DLB, confirming previous findings, and that the SNCA and SCARB2 loci are also associated after a study-wise Bonferroni correction, although these have a different association profile than the associations reported for the same loci in PD. We have previously shown that the p.N370S variant in GBA is associated with DLB, which, together with the findings at the SCARB2 locus, suggests a role for lysosomal dysfunction in this disease.	Neurocognitive Disorder With Lewy Bodies	Genome
1040	24983835	9606	Blood	NA	Case-control based	TaqMan Assay	TaqMan	Chi-squared tests of allelic association were performed in PLINK v1.04 (Purcell et al., 2007) to test for allelic association with AN. rs2616551 in VGLL4 was found to be nominally associated with AN (MAF in cases=17%, controls=21%, <U+00CF><U+2021>2=4.3, p=0.04, OR=0.79).	Anorexia Nervosa	Genome
1041	24985125	9606	Blood		Case-control based	aCGH	aCGH	Table 2 Detected pathogenic CNVs in patients	Intellectual Disability	Genome
1042	24985125	9606	Blood		Case-control based	aCGH	aCGH	Table 3 Detected variants of unknown signification (VUS) in patients	Intellectual Disability	Genome
1043	24985125	9606	Blood	NA	Case-control based	aCGH	aCGH	Table 2 Detected pathogenic CNVs in patients	Intellectual Disability	Genome
1044	24985125	9606	Blood	NA	Case-control based	aCGH	aCGH	Table 3 Detected variants of unknown signification (VUS) in patients	Intellectual Disability	Genome
1045	24988262	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	This is the fi rst study to show that ADH1B rs1229984 is related to 6 of the 11 DSM-IV AUD criteria and that alcohol consumption explained a significant proportion of these associations and the association of ADH1B with AUDs.	Alcohol Use Disorder	Genome
1046	24993631	9606	Blood	DSM-IV-TR	Case-control based	Genotyping//TaqMan	Genotyping//TaqMan	Variants of the BTBD9 gene (rs4714156, rs9296249 and rs9357271) have been reported to be associated with GTS in French Canadian and Chinese Han populations. Therefore, we decided to test the association between GTS and polymorphisms of the BTBD9 gene in Polish patients. Our cohort of GTS cases comprised 162 patients aged 4-54 years (mean age: 19.9 ± 8.7 years; 131 males, 80.9 percent). The control group consisted of 180 healthy persons aged 14-55 years (mean age: 23.1 ± 2.1 years; 149 males, 82.8 percent). The rs4714156, rs9296249 and rs9357271 variants of the BTBD9 gene were genotyped.	Attention-Deficit/Hyperactivity Disorder	Genome
1047	24993631	9606	Blood	DSM-IV-TR	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The frequency of MAFs of the genotyped SNPs was lower in GTS patients with Attention Deficit Hyperactivity Disorder (for rs9357271 and rs9296249, P=0.039 and rs4714156, P=0.040) and higher in GTS patients without comorbidities (for rs9357271 and rs9296249 P=0.021 and rs4714156 P=0.025). There was a trend toward an association between the minor allele of the SNPs and mild tics (P=0.089 for rs9357271 and rs9296249, P=0.057 for rs4714156).	Tourette's Disorder	Genome
1048	24993631	9606	Blood	DSM-IV-TR	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The frequency of MAFs of the genotyped SNPs was lower in GTS patients with Attention Deficit Hyperactivity Disorder (for rs9357271 and rs9296249, P=0.039 and rs4714156, P=0.040) and higher in GTS patients without comorbidities (for rs9357271 and rs9296249 P=0.021 and rs4714156 P=0.025). There was a trend toward an association between the minor allele of the SNPs and mild tics (P=0.089 for rs9357271 and rs9296249, P=0.057 for rs4714156).	Attention-Deficit/Hyperactivity Disorder	Genome
1049	24993631	9606	Blood	DSM-IV-TR	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The frequency of MAFs of the genotyped SNPs was lower in GTS patients with Attention Deficit Hyperactivity Disorder (for rs9357271 and rs9296249, P=0.039 and rs4714156, P=0.040) and higher in GTS patients without comorbidities (for rs9357271 and rs9296249 P=0.021 and rs4714156 P=0.025). There was a trend toward an association between the minor allele of the SNPs and mild tics (P=0.089 for rs9357271 and rs9296249, P=0.057 for rs4714156).	Tic Disorder	Genome
1050	249972227	9606	Blood	DSM-IV	Case report	NA	qPCR	Rs78613670 was observed in two patients with illness onset at age 31 and 35 years.	Bipolar Disorder	Genome
1051	249972227	9606	Blood	DSM-IV	Case report	NA	qPCR	Association test of rs2075680 C4A SNP showed significant difference between patients and healthy subjects with higher allele frequency in healthy subjects performing Chi-square test.	Bipolar Disorder	Genome
1052	249972227	9606	Blood	DSM-IV	Case report	NA	qPCR	Rs142426358 T4C SNP was seen only in one patient with an early age of illness onset.	Bipolar Disorder	Genome
1053	24997227	9606	Blood	DSM-IV	Case report	qPCR	qPCR	NA	Bipolar Disorder	Genome
1054	25025424	9606	Blood	DSM-IV	Case-control based	ABI Assays	MassARRAY	After re-sequencing 1.5 kb of the genomic DNA upstream of exon 1a in 386 normal subjects, we detected three SNPs (rs4906902, rs8179184, and rs20317) that have been reported in the National Center for Biotechnology Information (NCBI) SNP database	Heroin Addiction	Genome
1055	25025424	9606	Blood	DSM-IV	Case-control based	ABI Assays	MassARRAY	Then, we conducted a case-control association analysis between 576 subjects with heroin dependence (549 males, 27 females) and 886 controls (472 males, 414 females) by genotyping the rs4906902 as a tag SNP	Heroin Addiction	Genome
1056	25030379	9606	Blood		Case-control based	aCGH	aCGH	Table S2. De novo and familial CNVs detected in the cohort (hg18).	Intellectual Disability	Genome
1057	25030379	9606	Blood	NA	Case-control based	aCGH	aCGH	Table S2. De novo and familial CNVs detected in the cohort (hg18).	Intellectual Disability	Genome
1058	25035082	9606	Blood	NA	Case-control based	NA	Genotyping	Table 1 Associated Gene-Sets of the German GWAS and Replication	Alcohol Use Disorder	Genome
1059	25035082	9606	Blood	NA	Case-control based	NA	Genotyping	The XRCC5 variant rs828701, which was the most significant XRCC5 finding in our GWAS of AD (P=2.25E-5), showed an allele-dosage-dependent association with the maximum achieved BAC in an experiment, in which volunteers used a free access alcohol self-infusion paradigm to reproduce the pleasant alcohol effects preferred within the context of a weekend party.	Alcohol Use Disorder	Genome
1060	25039969	9606	Saliva		Case-control based	aCGH	aCGH	A common CNV mapping to the immune-related gene SIRPB1 was significantly associated with IDP scores in a dose-dependent manner (脦虏=-0.172, P<0.017). 	Intermittent Explosive Disorder	Genome
1061	25039969	9606	Saliva	NA	Case-control based	aCGH	aCGH	A common CNV mapping to the immune-related gene SIRPB1 was significantly associated with IDP scores in a dose-dependent manner (<U+00CE>2=-0.172, P<0.017).	Intermittent Explosive Disorder	Genome
1062	25041420	9606	brain	DSM-IV	Case-control based	RT-PCR//Western blot//Genotyping	RT-PCR//Western blotting//Genotyping	Our results show plasticity and region specificity of HTR2A expression regulation in human brain with age, which may be important for the interaction with other neurotransmitter systems and for the occurrence of developmental periods with increased vulnerability to neuropsychiatric or neurodegenerative disorders.	Obsessive Compulsive Disorder	Genome
1063	25042818	9606	Blood	DSM-IV-TR	Case-control based	Sequenom MassARRAY	MassARRAY	Only rs2060546 on chromosome 12q22 (p=3.3<U+00C3>—10-4) remained significant after Bonferroni correction. Meta-analysis with the original GWAS yielded the strongest association to date (p=5.8<U+00C3>—10-7). Although its functional significance is unclear, rs2060546 lies closest to NTN4, an axon guidance molecule expressed in developing striatum.	Tourette's Disorder	Genome
1064	25055870	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	We conclude that de novo CNVs play a smaller role in BD compared with SZ. Patients with a positive family history can also harbour de novo mutations. (Table 1.De novo CNVs detected in this study)	Schizophrenia	Genome
1065	25055870	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	We conclude that de novo CNVs play a smaller role in BD compared with SZ. Patients with a positive family history can also harbour de novo mutations. (Table 1.De novo CNVs detected in this study)	Bipolar Disorder	Genome
1066	25055870	9606	Blood	DSM-IV	Case-control based	HumanOmniExpress-12v1//HumanOmniExpressExome-8v1	SNP-array	We conclude that de novo CNVs play a smaller role in BD compared with SZ. Patients with a positive family history can also harbour de novo mutations. (Table 1.De novo CNVs detected in this study)	Schizophrenia	Genome
1067	25055870	9606	Blood	DSM-IV	Case-control based	HumanOmniExpress-12v1//HumanOmniExpressExome-8v1	SNP-array	We conclude that de novo CNVs play a smaller role in BD compared with SZ. Patients with a positive family history can also harbour de novo mutations. (Table 1.De novo CNVs detected in this study)	Bipolar Disorder	Genome
1068	25056061	9606	Blood//Brain//Cell lines	NA	Case-control based	Illumina HumanHap300 chip//Illumina HumanHap550 chip//Human-610 Quad Beadchip	SNP-array	We identify 128 independent associations spanning 108 conservatively defined loci that meet genome-wide significance, 83 of which have not been previously reported.(Supplementary Table 2: 128 genome-wide significant associations for schizophrenia)	Schizophrenia	Genome
1069	25059483	9606	Blood	DSM-IV-TR	Case-control based	Sequenom MassARRAY	MassARRAY	We observed similar and, in some cases, higher allele and genotype frequencies for the dysfunctional ASMT polymorphisms compared to current estimates in ASD (Table 3; Table S1; Table S2).	Autism Spectrum Disorder	Genome
1070	25059483	9606	Blood	DSM-IV-TR	Case-control based	Sequenom MassARRAY	MassARRAY	Table 4 Observed genotypes for evaluated CYP1A2 SNPs in ASD with sleep onset delay (SOD)	Autism Spectrum Disorder	Genome
1071	25062598	9606	Blood	DSM-IV-TR	Case-control based	SNP-array	SNP-array	The primary analyses used a cross-disorder design for 2,699 case patients (1,613 ascertained for OCD, 1,086 ascertained for TS) and 1,789 controls. Parental data facilitated a de novo analysis in 348 OCD trios.(Table 3 Large, Rare Case Number Variants (CNVs) in Patients and Controls Overlapping Previously Identified Neurodevelopmental Loci)	Tourette's Disorder	Genome
1072	25062598	9606	Blood	DSM-IV-TR	Case-control based	SNP-array	SNP-array	We detected 5 high confidence, de novo CNVs at 4q24, 7p21.1-7p21.2, 16p13.11, 17q12, and 22q11.21, resulting in a de novo rate of 1.44% (Figure S8, available online). 	Obsessive Compulsive Disorder	Genome
1073	25062598	9606	Blood	DSM-IV-TR	Case-control based	SNP-array	SNP-array	We detected 5 high confidence, de novo CNVs at 4q24, 7p21.1-7p21.2, 16p13.11, 17q12, and 22q11.21, resulting in a de novo rate of 1.44% (Figure S8, available online). 	Tourette's Disorder	Genome
1074	25062598	9606	Blood	DSM-IV-TR	Case-control based	Illumina Human610	SNP-array	We detected 5 high confidence, de novo CNVs at 4q24, 7p21.1-7p21.2, 16p13.11, 17q12, and 22q11.21, resulting in a de novo rate of 1.44% (Figure S8, available online).	Tourette's Disorder	Genome
1075	25062598	9606	Blood	DSM-IV-TR	Case-control based	Illumina Human610	SNP-array	We detected 5 high confidence, de novo CNVs at 4q24, 7p21.1-7p21.2, 16p13.11, 17q12, and 22q11.21, resulting in a de novo rate of 1.44% (Figure S8, available online).	Obsessive Compulsive Disorder	Genome
1076	25062598	9606	Blood	DSM-IV-TR	Case-control based	Illumina Human610	SNP-array	The primary analyses used a cross-disorder design for 2,699 case patients (1,613 ascertained for OCD, 1,086 ascertained for TS) and 1,789 controls. Parental data facilitated a de novo analysis in 348 OCD trios.(Table 3 Large, Rare Case Number Variants (CNVs) in Patients and Controls Overlapping Previously Identified Neurodevelopmental Loci)	Tourette's Disorder	Genome
1077	25065397	9606	Blood//Buccal swabs	NA	Case-control based	Illumina HumanHap 550 bead arrays//Meta-analysis	SNP-array//Meta-analysis	Table 6 Top association signals (P<1<U+00C3>—10-6) in the PC1 and IQ-adjusted PC1 meta-analyses	Developmental Dyslexia	Genome
1078	25065397	9606	Blood//Buccal swabs	NA	Case-control based	Illumina HumanHap 550 bead arrays//Meta-analysis	SNP-array//Meta-analysis	We identified novel suggestive associations at the SNPs rs59197085 and rs5995177 (uncorrected Pa‰<U+02C6>10-7 for each SNP), located respectively at the CCDC136/FLNC and RBFOX2 genes.	Developmental Dyslexia	Genome
1079	25077173	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	The present findings indicated that the FAAH c.385C>A SNP was moderately, but significantly, associated with lifetime AN. The minor 385A allele was less frequent in the AN patients, especially in lifetime restricting AN patients who had not engaged in binge eating and purging in their history.	Anorexia Nervosa	Genome
1080	25079255	9606	Blood	DSM-IV	Case-control based	Genotyping//PCR	Genotyping//PCR	We hypothesized that ADHD related cognitive deficit could be attributed to abnormalities in the folate cycle and explored functional single nucleotide polymorphisms in methylenetetrahydrofolate dehydrogenase (rs2236225), reduced folate carrier (rs1051266), and methylenetetrahydrofolate reductase (rs1801131 and rs1801133) in families with ADHD probands (N = 185) and ethnically matched controls (N = 216) recruited following the DSM-IV.	Attention-Deficit/Hyperactivity Disorder	Genome
1081	25079255	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Genotype success rate for MTHFD rs2236225, RFC1 rs1051266, MTHFR rs1801131 and MTHFR rs1801133 were 98.5, 98.4, 99.6 and 91.8 % respectively. All the genotypes confirmed to be in the Hardy-Weinberg equilibrium (p<0.1).	Attention-Deficit/Hyperactivity Disorder	Genome
1082	25111785	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Table 1. Regions associated at P,561025 with early-onset BD in meta-analysis.	Bipolar Disorder	Genome
1083	25111785	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Table S2. Region associated at P<5 x 10-5 with early-onset BD in the French population	Bipolar Disorder	Genome
1084	25111785	9606	Blood	DSM-IV	Case-control based	NA	qPCR	The most associated SNP in the German sample was located on chromosome 12 upstream to the PLEKHA5 gene (rs2970836, P=5.361026, OR=1.76).	Bipolar Disorder	Genome
1085	25113244	9606	Blood	DSM-5//DSM-IV	Case-control based	NA	qPCR	Our study further suggests that this risk is heightened among individuals with risk alleles of the two SNPs (rs258747 and rs41423247) of the GR gene.	Posttraumatic Stress Disorder	Genome
1086	25125238	9606	Blood	WAIS-III	Case-control based	NA	qRT-PCR	The brain derived neurotrophic factor (BDNF) val66met polymorphism rs6265 influences learning and may represent a risk factor for schizophrenia.	Schizotypal Personality Disorder	Genome
1087	25136889	9606	Blood	DSM-IV	Case-control based	Affymetrix homo species Exon 1.0 ST arrays//qRT-PCR	Microarray//qRT-PCR	The present findings suggest that STAB1 is a new and highly promising candidate gene in this region. The combining of gene expression and GWAS data may provide valuable insights into the biological mechanisms of BD.(Table 2 List of the top 10 associated genes from GWAS of BD patients and controls)	Bipolar Disorder	Genome
1088	25137309	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Two of them remained significant after the Bonferroni multiple testing correction (rs12418058, pcorrcted=0.038; rs1436109, pcorrcted=0.012). Moreover, two of the SNPs were associated with the parental age at conception in autism (rs12418058, p=0.037; rs1436109, p=0.01).	Autism Spectrum Disorder	Genome
1089	25137309	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Table 1. Association of NCAM1 Polymorphisms with Autism	Autism Spectrum Disorder	Genome
1090	25139529	9606	Blood	DSM-IV	Case-control based	SNP array//Meta-analysis	SNP-array//Meta-analysis	For the first time, we showed that the minor allele (G) of rs11098403 is closely associated with a reduced risk of schizophrenia (OR=0.614; 95% CI: 0.453-0.833; P=0.002; Power=0.832).	Schizophrenia	Genome
1091	25158072	9606	Blood	DSM-IV-TR(TS)//DSM-IV(OCD)	Case-control based	Illumina platforms	SNP-array	Table 1 Genomic regions in the combined TS/OCD GWAS with p<1<U+00C3>—10-5.	Tourette's Disorder	Genome
1092	25158072	9606	Blood	DSM-IV-TR(TS)//DSM-IV(OCD)	Case-control based	Illumina platforms	SNP-array	Table 1 Genomic regions in the combined TS/OCD GWAS with p<1<U+00C3>—10-5.	Obsessive Compulsive Disorder	Genome
1093	25158072	9606	Blood	DSM-IV-TR(TS)//DSM-IV(OCD)	Case-control based	Illumina platforms	SNP-array	Polygenic score analyses identified a significant polygenic component for OCD (p=2<U+00C3>—10(-4)), predicting 3.2% of the phenotypic variance in an independent data set. In contrast, Tourette's syndrome had a smaller, nonsignificant polygenic component, predicting only 0.6% of the phenotypic variance (p=0.06). No significant polygenic signal was detected across the two disorders, although the sample is likely underpowered to detect a modest shared signal. (Table 1 Genomic regions in the combined TS/OCD GWAS with p<1<U+00C3>—10-5.)	Tourette's Disorder	Genome
1094	25162199	9606	Saliva	NA	Case-control based	SNP Array	SNP-array	Table 2 Single-Nucleotide Polymorphisms Showing Association With Posttraumatic Stress Disorder Symptoms in Interaction With the Level of Childhood Adversity	Posttraumatic Stress Disorder	Genome
1095	25162540	9606	brain	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	rs1344706 influenced expression of ZNF804A E3E4 mRNA in fetal brain(P=.02).	Schizophrenia	Genome
1096	25162540	9606	brain	NA	Case-control based	TaqMan Gene Expression Assay	TaqMan	rs1344706 influenced expression of ZNF804A E3E4 mRNA in fetal brain(P=.02).	Bipolar Disorder	Genome
1097	25162540	9606	brain	NA	Case-control based	TaqMan Gene Expression Assay	TaqMan	rs1344706 influenced expression of ZNF804A E3E4 mRNA in fetal brain(P=.02).	Major Depressive Disorder	Genome
1098	25162540	9606	Brain	NA	Case-control based	NA	qPCR	An abundant and developmentally regulated truncated ZNF804A transcript was identified,missing exons 1 and 2 (ZNF804AE3E4) and predicted to encode a protein lacking the zinc finger domain. rs1344706 influenced expression of ZNF804AE3E4 mRNA in fetal brain(P=.02).	Major Depressive Disorder	Genome
1099	25162540	9606	Brain	NA	Case-control based	NA	qPCR	An abundant and developmentally regulated truncated ZNF804A transcript was identified,missing exons 1 and 2 (ZNF804AE3E4) and predicted to encode a protein lacking the zinc finger domain. rs1344706 influenced expression of ZNF804AE3E4 mRNA in fetal brain(P=.02).	Bipolar Disorder	Genome
1100	25162540	9606	Brain	NA	Case-control based	Quantitative Reverse Transcriptiona€“PCR//Western Blotting//Immunohistochemistry	qRT-PCR//Western blottingting//Immunohistochemistry	An abundant and developmentally regulated truncated ZNF804A transcript was identified,missing exons 1 and 2 (ZNF804AE3E4) and predicted to encode a protein lacking the zinc finger domain. rs1344706 influenced expression of ZNF804AE3E4 mRNA in fetal brain(P=.02).	Bipolar Disorder	Genome
1101	25178928	9606	Saliva	NA	Case-control based	Sequenom MassARRAY	MassARRAY	In DRD2 gene, we genotyped 11 Tag SNPs and found nominal association (P<0.05) of five SNPs with dyslexia in our cohort (Table  1).	Developmental Dyslexia	Genome
1102	25178928	9606	Saliva	NA	Case-control based	Sequenom MassARRAY	MassARRAY	Table 2 Association between SNPs in SLC6A3 and dyslexia using the additive, dominant, genotype, and the recessive models	Developmental Dyslexia	Genome
1103	25192323	9606	Blood	NA	Case-control based	NA	Genotyping	Our study suggested that the TNF-<U+00CE>±- 308G/A polymorphism contributed to the susceptibility to the risk of OSAS. Additional well-designed large studies are needed to validate our findings.	Obstructive Sleep Apnea Hypopnea	Genome
1104	25201053	9606	Blood	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Table 2 Genotype and minor allele frequencies of 9 SNPs in 6 genes in controls, DSPT, and FRT individuals	Circadian Rhythm Sleep Wake Disorders	Genome
1105	25217958	9606	Blood	Others	Case-control based	aCGH//PCR//Sanger Sequencing	aCGH//PCR//Sanger Sequencing	We created an expanded CNV morbidity map from 29,085 children with developmental delay in comparison to 19,584 healthy controls, identifying 70 significant CNVs. We resequenced 26 candidate genes in 4,716 additional cases with developmental delay or autism and 2,193 controls. An integrated analysis of CNV and single-nucleotide variant (SNV) data pinpointed 10 genes enriched for putative loss of function.	Attention-Deficit/Hyperactivity Disorder	Genome
1106	25217958	9606	Blood		Case-control based	aCGH	aCGH	Supplementary Table 8. Phenotypic and inheritance status for candidate loci. 	Global Developmental Delay	Genome
1107	25217958	9606	Blood		Case-control based	aCGH	aCGH	Supplementary Table 8. Phenotypic and inheritance status for candidate loci. 	Language Disorder	Genome
1108	25217958	9606	Blood		Case-control based	aCGH	aCGH	Supplementary Table 8. Phenotypic and inheritance status for candidate loci. 	Autism Spectrum Disorder	Genome
1109	25217958	9606	Blood		Case-control based	aCGH	aCGH	Supplementary Table 8. Phenotypic and inheritance status for candidate loci. 	Generalized Anxiety Disorder	Genome
1110	25217958	9606	Blood		Case-control based	aCGH	aCGH	Supplementary Table 8. Phenotypic and inheritance status for candidate loci. 	Obsessive Compulsive Disorder	Genome
1111	25217958	9606	Blood		Case-control based	aCGH	aCGH	Supplementary Table 8. Phenotypic and inheritance status for candidate loci. 	Attention-Deficit/Hyperactivity Disorder	Genome
1112	25217958	9606	Blood		Case-control based	aCGH	aCGH	Supplementary Table 8. Phenotypic and inheritance status for candidate loci. 	Obstructive Sleep Apnea Hypopnea	Genome
1113	25217958	9606	Blood	NA	Case-control based	aCGH	aCGH	Supplementary Table 8. Phenotypic and inheritance status for candidate loci.	Global Developmental Delay	Genome
1114	25217958	9606	Blood	NA	Case-control based	aCGH	aCGH	Supplementary Table 8. Phenotypic and inheritance status for candidate loci.	Language Disorder	Genome
1115	25217958	9606	Blood	NA	Case-control based	aCGH	aCGH	Supplementary Table 8. Phenotypic and inheritance status for candidate loci.	Autism Spectrum Disorder	Genome
1116	25217958	9606	Blood	NA	Case-control based	aCGH	aCGH	Supplementary Table 8. Phenotypic and inheritance status for candidate loci.	Generalized Anxiety Disorder	Genome
1117	25217958	9606	Blood	NA	Case-control based	aCGH	aCGH	Supplementary Table 8. Phenotypic and inheritance status for candidate loci.	Attention-Deficit/Hyperactivity Disorder	Genome
1118	25217958	9606	Blood	NA	Case-control based	aCGH	aCGH	Supplementary Table 8. Phenotypic and inheritance status for candidate loci.	Obsessive Compulsive Disorder	Genome
1119	25217958	9606	Blood	NA	Case-control based	aCGH	aCGH	Supplementary Table 8. Phenotypic and inheritance status for candidate loci.	Obstructive Sleep Apnea Hypopnea	Genome
1120	25256363	9606	Buccal swabs	DSM-IV	Family based	NA	Genotyping	The aim of this study was to investigate two TNF promoter polymorphisms (-238 A/G: rs361525 and -308 A/G: rs1800629) on the genetic susceptibility to OCD and TS in a child psychiatric sample (102 patients with OCD and 117 patients with TS).	Obsessive Compulsive Disorder	Genome
1121	25256363	9606	Blood	NA	Case-control based	NA	qPCR	Our results revealed that the TNF -308 G-allele was more frequent in children with TS compared to controls (90.2% vs 84.8%, P=0.037). For confirmation of this genetic association, a family-based analysis, the transmission disequilibrium test was used, which showed preferential transmission of the G-allele to patients with TS (nominal P-value 0.011). Moreover, this allele was also transmitted more frequently to children with tic symptoms (nominal P-value 0.039).	Tourette's Disorder	Genome
1122	25258123	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Table 3 The significant results of case-control association study	Bipolar Disorder	Genome
1123	25258123	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Table 3 The significant results of case-control association study	Psychotic Disorder	Genome
1124	25258123	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Table 3 UPD patients. The significant results of case-control association study	Psychotic Disorder	Genome
1125	25273375	9606	Saliva	NA	Case-control based	MassEXTEND Sequenom assay	MassARRAY	After FDR correction, seven loci were significantly associated with variation in Automaticity, including loci from TTC12 (rs2303380 and rs2282511), ANKK1(rs877138, rs17115439, rs4938013, and rs4938015), and DRD2 (rs1079597) (pa€<U+2122>s range from .004 to .017)	Tobacco Use Disorder	Genome
1126	25288136	9606	Blood	NA	Case-control based	NA	Genotyping//Meta-analysis	Table 1 SNPs associated with cups of coffee consumed per day among coffee consumers	Cocaine Addiction	Genome
1127	25300364	9606	Blood	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	We studied the allelic and genotype frequencies of the SNPs rs7977109 and rs693534 in 205 patients with RLS and 328 healthy controls using TaqMan genotyping. The results of our study suggest that these two NOS1 SNPs are not related to the overall risk for RLS in the Spanish population.	Restless Legs Syndrome	Genome
1128	25303981	9606	Blood	NA	Case-control based	NA	Genotyping	Our findings suggest that the DTNBP1 rs3213207 polymorphism may contribute to methamphetamine-induced panic disorder in the pooled Malaysian male population, especially in the Malay and Kadazan-Dusun ethnic groups.	Panic Disorder	Genome
1129	25308352	9606	Blood	DSM-IV	Case-control based	Illumina GoldenGate assay	SNP-array	Our results demonstrate that the A118G OPRM1 polymorphism contributes to interindividual variations in the function of neurotransmitters responsive to pain (endogenous opioid and dopamine), as well as their regulation through cognitive-emotional influences in the context of therapeutic expectations, the so-called placebo effect.	Personality Disorder	Genome
1130	25311363	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The strongest and only significant link to diagnosis was seen with ANK3 (location 10: 62085337; rs10761482; likelihood ratio <U+00CF><U+2021>2=4.63; P=0.031).	Bipolar Disorder	Genome
1131	25311363	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Genetic analyses of 25 SNPs, selected for relevance Selection of the 25 SNPs to be included in our statistical analysis was driven by published hypotheses concerning relevance to bipolar and other severe psychiatric disorders. Univariate <U+00CF><U+2021>2 analyses of the 80 individuals with contingency tables for categorical SNP results (2 to 3 levels) versus diagnosis (2 levels) are shown in Table 5.	Bipolar Disorder	Genome
1132	25320160	9606	Blood	DSM-IV	Case-control based	qRT-PCR	qRT-PCR	We found significantly lower NOx (-) levels in BPD (p<0.001). rs2070744 T/T-carriers of the whole sample showed increased mRNA expression of NOS3 (p=0.05). Only in BPD an influence of rs2070744 was seen regarding NO metabolite levels; C/C carriers displayed lower NOx (-) levels (p=0.05).	Attention-Deficit/Hyperactivity Disorder	Genome
1133	25320160	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	We found significantly lower NOx (-) levels in BPD (p<0.001). rs2070744 T/T-carriers of the whole sample showed increased mRNA expression of NOS3 (p=0.05).	Bipolar Disorder	Genome
1134	25320160	9606	Blood	DSM-IV	Case-control based	NA	RT-PCR	The concentrations of NO2- and NO3- in peripheral blood in a sample of aADHD, bipolar disorder (BPD) and controls were analysed. The sample was genotyped for a three marker haplotype in the NOS3 gene (rs2070744, rs1799983 and Intron 4 VNTR) and for genetic variants of the NOS1 gene (NOS1 ex 1c, NOS1 ex 1f). Finally, qRT PCR was performed.	Attention-Deficit/Hyperactivity Disorder	Genome
1135	25332407	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	No synonymous mutations, nonsense mutations, splicing site mutations, or indels were discovered. In one of the 145 ASD samples, we detected a known rare missense mutation (rs148118152) at exon4 within the N-terminal coiled-coil region.	Schizophrenia	Genome
1136	25345593	9606	Blood//Cell lines//Saliva	DSM-IV 	Case-control based	SNP-array	SNP-array	Table 1 CNVs Significantly Associated with Opioid Dependence	Opioid Use Disorder	Genome
1137	25345593	9606	Blood//Cell lines//Saliva	DSM-IV 	Case-control based	SNP-array	SNP-array	Table 2 CNVs Suggestively Associated with Opioid Dependence	Opioid Use Disorder	Genome
1138	25345593	9606	Blood//Cell lines//Saliva	DSM-IV	Case-control based	Illumina HumanOmni1-Quad Beadchip	SNP-array	Table 1 CNVs Significantly Associated with Opioid Dependence	Opioid Use Disorder	Genome
1139	25345593	9606	Blood//Cell lines//Saliva	DSM-IV	Case-control based	Illumina HumanOmni1-Quad Beadchip	SNP-array	Table 2 CNVs Suggestively Associated with Opioid Dependence	Opioid Use Disorder	Genome
1140	25346392	9606	Blood	DSM-IV	Family based	Illumina Infinium HumanHap300//Perlegen Sciences Microarray	Illumina Infinium HumanHap300//Perlegen Sciences Microarray	This study investigated if genetic variants in angiogenic, dopaminergic, neurotrophic, kynurenine, and cytokine-related biological pathways moderate the relationship between birth weight and ADHD symptom severity. A total of 398 youth from two multi-site, family-based studies of ADHD were included in the analysis. The sample consisted of 360 ADHD probands, 21 affected siblings, and 17 unaffected siblings. A set of 164 SNPs from 31 candidate genes, representing five biological pathways, were included in our analyses.	Attention-Deficit/Hyperactivity Disorder	Genome
1141	25346392	9606	Saliva	DSM-IV	Family based	Illumina Infinium HumanHap300//Perlegen Sciences Microarray	Illumina Infinium HumanHap300//Perlegen Sciences Microarray	This study investigated if genetic variants in angiogenic, dopaminergic, neurotrophic, kynurenine, and cytokine-related biological pathways moderate the relationship between birth weight and ADHD symptom severity. A total of 398 youth from two multi-site, family-based studies of ADHD were included in the analysis. The sample consisted of 360 ADHD probands, 21 affected siblings, and 17 unaffected siblings. A set of 164 SNPs from 31 candidate genes, representing five biological pathways, were included in our analyses.	Attention-Deficit/Hyperactivity Disorder	Genome
1142	25346392	9606	Blood	DSM-IV	Family based	Illumina Infinium HumanHap300	SNP-array	SNP main effects on ADHD Total Score and Hyperactivity-Impulsivity were not significant after adjusting for multiple testing (Table III).	Attention-Deficit/Hyperactivity Disorder	Genome
1143	25346392	9606	Blood	DSM-IV	Family based	Illumina Infinium HumanHap300	SNP-array	After controlling for site, age, sex, and multiple testing, three out of 164 SNPs had a significant main effect on the CPRS Inattentive score (see Table III and Supplementary Tables SVII and SVIII for SNP main effects from each statistical model). I	Attention-Deficit/Hyperactivity Disorder	Genome
1144	25346392	9606	Blood	DSM-IV	Family based	Illumina Infinium HumanHap300	SNP-array	Out of the 164 interaction effects tested below without assuming a specific genetic model (Supplementary Table SIII), multiple SNP birth weight centile interactions predicted ADHD symptom severity after multiple testing correction (Table IV).	Attention-Deficit/Hyperactivity Disorder	Genome
1145	25347278	9606	Blood	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	We performed association analyses for every identified SNP. When all of the samples were considered, the genotype association analysis of SNP1 (rs6943555) under the dominant model revealed a significant result (odds ratio (OR)=1.363, 95% confidence interval (CI): 0.848-2.191, p=0.001).	Schizophrenia	Genome
1146	25356307	9606	Blood	NA	Case-control based	NA	qPCR	One single nucleotide polymorphism in the sex hormone-binding globulin gene (rs1799941) moderated (significantly after correction for multiple testing) the association between salivary T and ELT, so that A:A genotype carriers had significantly lower salivary T levels as a function of increasing ELT compared with other genotype groups.	Premature (Early) Ejaculation	Genome
1147	25356307	9606	Blood	NA	Case-control based	NA	qPCR	We found a nominally significant association between a 5-alpha-reductase type 2-gene-linked polymorphism (rs2208532) and ELT, but this association did not remain significant after correction for multiple testing.	Premature (Early) Ejaculation	Genome
1148	25356307	9606	Blood	NA	Case-control based	NA	qPCR	Table 2 Associations between androgen-related genetic polymorphisms and ejaculatory function	Premature (Early) Ejaculation	Genome
1149	25363760	9606	Blood	ADI//ADOS	Case-control based	WES	WES	Using exome sequencing, analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate (FDR)<0.05, and a set of 107 autosomal genes strongly enriched for those likely to affect risk (FDR<0.30). These 107 genes, which show unusual evolutionary constraint against mutations, incur de novo loss-of-function mutations in over 5% of autistic subjects. (Extended Data Table 1 CNVs hitting TADA genes. Count of deletion copy number variants inferred from sequence for ASD subjects and those unaffected by ASD.)	Autism Spectrum Disorder	Genome
1150	25363760	9606	Blood	ADI//ADOS	Case-control based	Illumina HiSeq 2000	WES	Using exome sequencing, analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate (FDR)<0.05, and a set of 107 autosomal genes strongly enriched for those likely to affect risk (FDR<0.30). These 107 genes, which show unusual evolutionary constraint against mutations, incur de novo loss-of-function mutations in over 5% of autistic subjects. (Extended Data Table 1 CNVs hitting TADA genes. Count of deletion copy number variants inferred from sequence for ASD subjects and those unaffected by ASD.)	Autism Spectrum Disorder	Genome
1151	25370694	9606	Blood//Saliva	DSM-IV	Case-control based	Affymetrix Human Mapping GeneChip 6.0 Array	Affymetrix Human Mapping GeneChip 6.0 Array	We carried out, for the first time, an analysis of the 15q13 region in an Italian cohort of 117 ADHD patients and 77 controls using the MLPA method, confirmed by a genome single-nucleotide polymorphism array. In addition, we probed for downstream effects of the 15q13 deletions on gene expression by carrying out a transcriptomic analysis in blood. We found 15q13 deletions in two ADHD patients and identified 129 genes as significantly dysregulated in the blood of the two ADHD patients carrying 15q13 deletions compared with ADHD patients without 15q13 deletions.	Attention-Deficit/Hyperactivity Disorder	Genome
1152	25370694	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	One hundred and twenty-nine genes significantly dysregulated in the blood of the two ADHD patients with deletions in 15q13 compared with nine ADHD patients without 15q13 deletions (P<0.05 and fold change<- 1.5 or >1.5).	Attention-Deficit/Hyperactivity Disorder	Genome
1153	25370694	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	One hundred and twenty-nine genes significantly dysregulated in the blood of the two ADHD patients with deletions in 15q13 compared with nine ADHD patients without 15q13 deletions (P<0.05 and fold change<- 1.5 or >1.5).	Attention-Deficit/Hyperactivity Disorder	Genome
1154	25379217	9606	Saliva	DSM-IV-TR	Case-control based	SNP Array	SNP-array	These results suggest that the AA genotype at rs3800373,the CC genotype at rs9470080, the CC genotype at rs1360780 and the GG genotype at rs9296158 are associated with unremitting chronic PTSD.	Posttraumatic Stress Disorder	Genome
1155	25398668	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	In this study, we identified the SNP in AUTS2 contributing to the genetic susceptibility to heroin dependence. The potential association between heroin dependence and 21 SNPs (rs2270162, rs2851510, rs513150,rs595681, rs210606, rs10237984, rs13228123, rs10235781,rs6969375, rs6943555, rs10251416, rs17141963,rs12669427, rs723340, rs2293507, rs2293508, rs6960426,rs9886351, rs2293501, rs10277450, rs1918425) of AUTS2 was examined in a Chinese Han population using the MassARRAY system.	Heroin Addiction	Genome
1156	25398668	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Compared with the healthy controls, the AA homozygotes of rs6943555 were significantly over-represented in the patients with heroin dependence and the healthy controls (P=0.0019).	Heroin Addiction	Genome
1157	25424713	9606	Blood	NA	Case-control based	Illumina 450K array	450K array	We identified one DMDE locus on chromosome 10 with genome-wide significant evidence of association with SZ. SNP rs11191514:C>T (chr10.hg19:c.104773364C>T) at this locus represents an mQTL associated with differential DNA methylation between cases and controls that is correlated with the expression of a gene that is also differentially expressed between cases and controls (Figures 3a-c). (Table S3.)	Schizophrenia	Genome
1158	25434007	9606	Blood	NA	Case-control based	NA	Genotyping	Table 2 Single Variants Nominally Associated with SZ in 2,610 SZ Cases and 2,611 Controls from the MGS EA GWASs	Schizophrenia	Genome
1159	25434007	9606	Cell lines(NH-A cell//SKNSH cell)	NA	Case-control based	NA	Genotyping	Table 2 Single Variants Nominally Associated with SZ in 2,610 SZ Cases and 2,611 Controls from the MGS EA GWASs	Schizophrenia	Genome
1160	25451450	9606	Blood	DSM-IV	Case-control based	Affymetrix Genome-Wide Human SNP array 6.0	SNP-array	We identified one genome-wide significant association between migraine in bipolar disorder patients and rs1160720, an intronic single nucleotide polymorphism (SNP) in the NBEA gene (P=2.97<U+00C3>—10-8, OR: 1.82, 95% CI: 1.47-2.25), although this was not replicated in a smaller sample of 289 migraine cases.	Bipolar Disorder	Genome
1161	25456346	9606	Blood	DSM-IV	Case-control based	Illumina HumanOmniExpressExome array	SNP-array	Table 3 Top hits from genome-wide association studies with PTSD in subjects of European (EA), African (AA), Hispanic/Native American (HNA), and other descents, and meta-analysis across ancestry groups	Posttraumatic Stress Disorder	Genome
1162	25456346	9606	Blood	DSM-IV	Case-control based	Illumina HumanOmniExpressExome array	SNP-array	Table 2 Meta-analyses of PRTFDC1 associations with PTSD for (A) the most significant imputed SNP rs6482463 in four Marine Resiliency Study (MRS) ancestry groups, and (B) for the genotyped SNP rs1033962 in MRS and an independent replication sample from the National Center for PTSD/Boston (NCPTS).	Posttraumatic Stress Disorder	Genome
1163	25456346	9606	Blood	DSM-IV	Case-control based	Illumina HumanOmniExpressExome array	SNP-array	Table 4 PTSD association analysis of SNPs in 25 putative PTSD genes from published PTSD candidate gene and genome-wide association studies in 2179 MRS subjects of European descent.	Posttraumatic Stress Disorder	Genome
1164	25495208	9606	Blood	DSM-IV	Case-control based	TaqMan Genotyping Assay	TaqMan	We found that AGO1 rs595961 (w2=9.066, p=0.003; odds ratio [OR]=0.459, 95% confidence interval [CI]: 0.275-0.768) and AGO2 rs4961280 (w2=4.111, p=0.043; OR=0.590, 95% CI: 0.353-0.986) G alleles have significantly altered the risk for AD, and also there is a significant association of GEMIN4 rs910924 (w2=5.291, p=0.021; OR=1.913, 95% CI: 1.094-3.344) T allele with the risk for AD. We also found statistically significant difference in AGO1 rs595961 (w2=11.139, p=0.001) and DGCR8 rs1640299 (w2=13.001, p=0.002) genotype frequencies between case-control groups.	Alcohol Use Disorder	Genome
1165	25510512	9606	Blood	DSM-IIIR//DSM-IV	Family based	NA	qRT-PCR	Table 2b. Significant SNPs of family-based association test in the childhood-onset schizophrenia samples using 80 selected SNPs based on schizophrenia GWAS of PGC (Caucasians only)	Schizophrenia	Genome
1166	25510512	9606	Blood	DSM-IIIR//DSM-IV	Family based	NA	qRT-PCR	Table 2a. Significant SNPs of family-based association test in the childhood-onset schizophrenia samples using 80 selected SNPs based on schizophrenia GWAS of PGC (all subjects)	Schizophrenia	Genome
1167	25517604	9606	Saliva	DSM-IV	Case-control based	Sequenom iPLEX Gold System//TaqMan	TaqMan//MassArray	Table 2 Significant association of SNPs as main effects and G<U+00C3>—E interactions on depressive state.	Major Depressive Disorder	Genome
1168	25534755	9606	Blood	DSM-IV	Family based	Array	SNP-array	Table 4 SNPs associated with a z-score>4.58 in one of the phenotypic subgroups in secondary analyses	Autism Spectrum Disorder	Genome
1169	25534755	9606	Blood	DSM-IV	Family based	Array	SNP-array	Table 3 Most associated SNPsa with case status in primary analyses	Autism Spectrum Disorder	Genome
1170	25535857	9606	Blood	NA	Case-control based	NA	NA	Table 4 Significant adjusted associations between cytokine genotype and sleep onset latency group (n=285)	Insomnia Disorder	Genome
1171	25539807	9606	Blood		Case-control based	SNP-array	SNP-array	Table S4 List of de novo CNVs confirmed on at least two arrays	Global Developmental Delay	Genome
1172	25539807	9606	Blood	NA	Case-control based	SNP arrays(Affymetrix Genome-Wide Human SNP Array 6.0//Affymetrix Cytogenetics Whole-Genome 2.7M array//Illumina HumanOmni1-Quad BeadChip// Illumina HumanCytoSNP-12 DNA Analysis BeadChip)	SNP-array	Table S4 List of de novo CNVs confirmed on at least two arrays	Global Developmental Delay	Genome
1173	25543168	9606	Blood	DSM-IV//ICD-10	Case-control based	NA	qPCR	Those with ALDH2 *1/*1 and ADH1B *1/*1 were likely to be at an increased risk of depressive and anxiety disorders as well as ARD.	Anxiety Disorder	Genome
1174	25543168	9606	Blood	DSM-IV//ICD-10	Case-control based	NA	qPCR	We investigated the relationship of ADH1B rs1229984 and ALDH2 rs671 polymorphism combinations with mental disorder risks.	Anxiety Disorder	Genome
1175	25543168	9606	Blood	DSM-IV//ICD-10	Case-control based	NA	qPCR	Those with ALDH2 *1/*1 and ADH1B *1/*1 were likely to be at an increased risk of depressive and anxiety disorders as well as ARD.	Depressive Disorder	Genome
1176	25545355	9606	Blood//Saliva	ICD-10	Case-control based	Sequenom iPLEX Gold assay	MassARRAY	Table 2. SNPs Associated with Early Smoking and Nicotine Dependence Phenotypes (P-value from Linear Mixed Model ,0.01) (n5544).	Tobacco Use Disorder	Genome
1177	25548108	9606	Blood	ICD-10	Case-control based	SNP Array	SNP-array	A significant association was established between the functional mutation N251S-polymorphism of the PIP5K2A gene(rs10828317) and tardive dyskinesia, while the other 2 examined nonfunctional single nucleotide polymorphisms were not related.	Schizophrenia	Genome
1178	25585696	9606	Blood//Buccal swabs	WISC	Case-control based	SNP-array	SNP-array	Table 3 Rare and novel events >100kbp and all de novo CNVs in independent cases	Language Disorder	Genome
1179	25585696	9606	Blood//Buccal swabs	WISC	Case-control based	Illumina HumanOmniExpress-12v1 Beadchip	SNP-array	Table 3 Rare and novel events >100kbp and all de novo CNVs in independent cases	Language Disorder	Genome
1180	25594371	9606	Blood	DSM-IV	Case report	NA	qPCR	We examined the separate and combined effects of PTSD symptomatology and SNCA rs356195 on alcohol- and aggression-related measures in nonclinical participants (N=138 European Americans; 15 diagnosed with probable PTSD).	Posttraumatic Stress Disorder	Genome
1181	25667815	9606	Blood		Case report	aCGH	aCGH	This case underscores the importance of aCGH testing for individuals with PKD who do not have PRRT2 mutations, particularly when developmental delays, speech problems, intellectual disability, and/or autism spectrum disorder are present.	Motor Disorders	Genome
1182	25667815	9606	Blood	NA	Case report	aCGH	aCGH	This case underscores the importance of aCGH testing for individuals with PKD who do not have PRRT2 mutations, particularly when developmental delays, speech problems, intellectual disability, and/or autism spectrum disorder are present.	Motor Disorders	Genome
1183	25698199	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Our findings provide no evidence for an association between DRD3 gene rs6280 and TS in the Han Chinese population.	Tourette's Disorder	Genome
1184	25703997	9606	Blood	DSM-IV	Case-control based	TaqMan PCR assay	TaqMan	SAR1B polymorphisms were associated with AD risk; results were not significant after correction for multiple tests. Simultaneous screening using SAR1B rs11948613 and ApoE <U+00CE>μ4 status offered a better sensitivity for AD screening.	Vascular Neurocognitive Disorder	Genome
1185	25706306	9606	Blood	NA	Case-control based	Illumina HumanExome BeadChip array	SNP-array	Two associations near APOE, rs2075650 (P=2.05<U+00C3>—10-5) and rs4420638 (P=2.58<U+00C3>—10-6), surpassed this predefined P value threshold (eTable 1 in the Supplement).	Frontotemporal Neurocognitive Disorder	Genome
1186	25726156	9606	Blood	IIEF-5	Case-control based	NA	NA	In the overall analysis, significantly decreased associations between ED risk and eNOS G894T polymorphism were found.	Erectile Disorder	Genome
1187	25735483	9606	Blood//Cell lines	DSM-IV-TR	Case-control based	Illumina Human610-Quadv1_B SNP array//Illumina Human CNV370-Duo_v1	SNP-array	This association is driven primarily by a subset of 33 genes involved in glycolysis and glutamate metabolism through which astrocytes support synaptic function. Our results indicate for the first time that the process of astrocyte-neuron metabolic coupling may be an important contributor to Tourette syndrome pathogenesis.	Tourette's Disorder	Genome
1188	25740197	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	To further examine the role of RGS2 polymorphisms in the pathogenesis of PD, we genotyped rs4606 and five additional RGS2 tag single nucleotide polymorphisms (SNPs; rs16834831, rs10801153, rs16829458, rs1342809, rs1890397) in two independent PD samples, comprising 531 matched case/control pairs.Taken together, these findings provide further evidence for the potential role of RGS2 as a candidate gene for PD.	Panic Disorder	Genome
1189	25751280	9606	Blood	DSM-IV-TR	Case-control based	NA	Genotyping	These data are the first to suggest that polymorphism in serotonin transporter (rs16965628) is associated with the development of OCD in the Turkish population.	Obsessive Compulsive Disorder	Genome
1190	25755794	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	To evaluate the effects of CREB1 SNPs, we performed logistic regression. The results indicated no association between CREB1 polymoprhisms and MDD susceptibility (Table 2)	Major Depressive Disorder	Genome
1191	25756807	9606	Blood	DSM-IV	Case report	Affymetrix 6.0 GeneChip array//Affymetrix Axiom chip array//Illumina Human Exome Beadchip array//Illumina MetaboChip 200K	SNP-array	Table 3 Significant results of the association analysis between PTSD and mtSNPs by linear regression	Posttraumatic Stress Disorder	Genome
1192	25771937	9606	Blood	NA	Case report	NA	qPCR	A statistically significant difference was found in the genetic contribution of the BDNF Val66Met polymorphism between both the OCD (<U+00CF><U+2021>(2)=7.50, P=0.023 by genotype; <U+00CF><U+2021>(2)=6.67, P=0.01 by allele) and TS (<U+00CF><U+2021>(2)=6.76, P=0.03 by genotype; <U+00CF><U+2021>(2)=4.27, P=0.04 by allele), and control groups.	Tourette's Disorder	Genome
1193	25771937	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Our study supports the involvement of the BDNF Val66Met polymorphism as a common genetic susceptibility for OCD and TS in the Chinese Han population, showing specific gender trends.	Tourette's Disorder	Genome
1194	25773927	9606	Blood	DSM-IV	Case-control based	NA	qPCR	We found a positive association between the G allele of OXTR rs53576 and BN. In the BN group, the G carriers showed a high score on the behavioural inhibition system.	Bulimia Nervosa	Genome
1195	25778907	9606	Blood	NA	Case-control based	Sequenom MassARRAY//Meta-analysis	MassARRAY//Meta-analysis	Table 4 Associations with P<0.01 in metaa€<U+0090>analysis of composite PA score in the Cleveland SSD (n=96) and Denver SSD (n=128) under (a) additive and (b) dominant models	Speech Sound Disorder	Genome
1196	25793616	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Table 1 Single-marker analysis of OCD association with catechol-O-methyltransferase and monoamine oxidase A single-nucleotide polymorphisms.	Obsessive Compulsive Disorder	Genome
1197	25793742	9606	Blood	DSM-IV	Case report	Illumina Human1M-Duo Beadchip	SNP-array	This patient also carried two additional rare inherited CNVs of unknown significance, including a duplication of 6q23.3 and a deletion of 7p22.1. Patient #1 with FS+ presented with a maternally inherited pathogenic 14q23.3 deletion interrupting GPHN and a 4q28.3 deletion of unknown significance. Overall, three likely pathogenic CNVs were discovered. Patient #4 with FS+ carried a 1.6 Mb likely pathogenic duplication at 3q13.11 including ALCAM and CBLB. Patient #5 carried two likely pathogenic de novo CNVs, a 191kb duplication at 7p14.2 including the ELMO1 gene and a 217 kb duplication at 18q12.2 comprising five zinc finger genes. Three additional CNVs in two patients were duplications of unknown significance in the chromosomal regions 11p15.1, 1p22.3 and 4p15.31.	Posttraumatic Stress Disorder	Genome
1198	25798331	9606	Blood	DSM-IV	Case-control based	SNPlex Genotyping	SNPlex	Three SNPs showed statistically significant associations with PD - rs1539243, rs1953090, rs11117909, but the respective P values of 0.0112 (OR 1.50 (CI: 1.09-2.05)), 0.0339 (OR 0.73 (CI: 0.55-0.98)), and 0.0256 (OR 1.49 (CI: 1.05-2.13)) did not survive the corrections for multiple testing. (Table 1 Results of allelic association analysis)	Panic Disorder	Genome
1199	25806950	9606	Blood	DSM-IV	Family based	WES	WES	Table 3 Six novel rare missense variations identified by WES in two families, each with three ASD siblings.	Autism Spectrum Disorder	Genome
1200	25807484	9606	Blood		Case-control based	WES//TaqMan	WES//TaqMan	Finally, through gene expression and network analyses, we highlight a critical role for CTNND2 in neuronal development and an intimate connection to chromatin biology. (Table S6)	Global Developmental Delay	Genome
1201	25807484	9606	Blood		Case-control based	WES//TaqMan	WES//TaqMan	Finally, through gene expression and network analyses, we highlight a critical role for CTNND2 in neuronal development and an intimate connection to chromatin biology. (Table S5)	Autism Spectrum Disorder	Genome
1202	25807484	9606	Blood	NA	Case-control based	WES//TaqMan	WES//TaqMan	Finally, through gene expression and network analyses, we highlight a critical role for CTNND2 in neuronal development and an intimate connection to chromatin biology. (Table S5)	Autism Spectrum Disorder	Genome
1203	25807484	9606	Blood	NA	Case-control based	WES//TaqMan	WES//TaqMan	Finally, through gene expression and network analyses, we highlight a critical role for CTNND2 in neuronal development and an intimate connection to chromatin biology. (Table S6)	Global Developmental Delay	Genome
1204	25817407	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Within our enriched group of SNPs used in stage 1, we identified 116 SNPs to act as miRNA eQTLs at the nominal p a‰¤ 0.05 of which 32 eQTLs remained significant following FDR correction at 10%. Of these 32 miRNA eQTLs, all were found to relate to SZ and 11 overlapped with BD.(Table 1 A master table showing pertinent information to the detection of 32 eQTLs and the miRNAs to which they are linked)	Bipolar Disorder	Genome
1205	25817407	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Within our enriched group of SNPs used in stage 1, we identified 116 SNPs to act as miRNA eQTLs at the nominal p a‰¤ 0.05 of which 32 eQTLs remained significant following FDR correction at 10%. Of these 32 miRNA eQTLs, all were found to relate to SZ and 11 overlapped with BD.(Table 1 A master table showing pertinent information to the detection of 32 eQTLs and the miRNAs to which they are linked)	Schizophrenia	Genome
1206	25824302	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Table 2 Top loci associated with treatment response in OCD patients	Obsessive Compulsive Disorder	Genome
1207	25843436	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Our study further supports the association of SNP rs1006737 with BD-I and suggests that CACNA1C SNP rs1006737 and Bcl-2 SNP rs956572, or specific causal variants in LD with these proxies, act independently to increase risk and ICDH in BD-I.	Bipolar I Disorder	Genome
1208	25844147	9606	Blood	ADI-R//ADOS//DISCO-10	Case report	SNP-array	SNP-array	SNP array analysis revealed a de novo intragenic deletion of 179 kb in the RFX3 gene at 9p24.2 (3344203-3513286) on the paternal allele. qPCR confirmed a deletion of exons 2 to 4 of RFX3 in the patient and was normal in both parents.	Autism Spectrum Disorder	Genome
1209	25844147	9606	Blood	ADI-R//ADOS//DISCO-10	Case report	SNP-array	SNP-array	The SNP array detected no imbalance on chromosome 11 but showed a de novo 7q21.3q22.1 deletion of 4.93 Mb (97043362-101977945) (Figure 1C) occurring on the paternal allele. The deletion was confirmed by FISH with BACs targeting 7q22.1(RP11-44M6 and DBACA-20A02 Integragen Evry France) and excluded in the parents.	Autism Spectrum Disorder	Genome
1210	25844147	9606	Blood	ADI-R//ADOS//DISCO-10	Case report	SNP-array	SNP-array	The array revealed a 4.22 Mb deletion of chromosome 18p11.22p11.31 (5408997-9625750) (Figure 1B) originating on the maternally inherited chromosome. The deletion was confirmed by qPCR.	Autism Spectrum Disorder	Genome
1211	25844147	9606	Blood	ADI-R//ADOS//DISCO-10	Case report	SNP-array	SNP-array	Array analysis showed a 3.31 Mb terminal 2q deletion (239735269-243044147) at the distal breakpoint of the inversion and a 2q14.1q14.2 duplication spanning 4.23 Mb (117072756-121304548) at the proximal breakpoint (Figure 1D). 	Autism Spectrum Disorder	Genome
1212	25844147	9606	Blood	ADI-R//ADOS//DISCO-10	Case report	SNP Array	SNP-array	The array revealed a 4.22 Mb deletion of chromosome 18p11.22p11.31 (5408997-9625750) (Figure 1B) originating on the maternally inherited chromosome. The deletion was confirmed by qPCR.	Autism Spectrum Disorder	Genome
1213	25844147	9606	Blood	ADI-R//ADOS//DISCO-10	Case report	SNP Array	SNP-array	SNP array analysis revealed a de novo intragenic deletion of 179 kb in the RFX3 gene at 9p24.2 (3344203-3513286) on the paternal allele. qPCR confirmed a deletion of exons 2 to 4 of RFX3 in the patient and was normal in both parents.	Autism Spectrum Disorder	Genome
1214	25844147	9606	Blood	ADI-R//ADOS//DISCO-10	Case report	SNP Array	SNP-array	The SNP array detected no imbalance on chromosome 11 but showed a de novo 7q21.3q22.1 deletion of 4.93 Mb (97043362-101977945) (Figure 1C) occurring on the paternal allele. The deletion was confirmed by FISH with BACs targeting 7q22.1(RP11-44M6 and DBACA-20A02 Integragen Evry France) and excluded in the parents.	Autism Spectrum Disorder	Genome
1215	25844147	9606	Blood	ADI-R//ADOS//DISCO-10	Case report	SNP Array	SNP-array	Array analysis showed a 3.31 Mb terminal 2q deletion (239735269-243044147) at the distal breakpoint of the inversion and a 2q14.1q14.2 duplication spanning 4.23 Mb (117072756-121304548) at the proximal breakpoint (Figure 1D).	Autism Spectrum Disorder	Genome
1216	25858583	9606	Blood	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	Our study suggested that the HTR2A 102T/C and -1438A/G polymorphisms may not be associated with susceptibility to TS, and thus do not play a major role in the development of TS in the Chinese Han population.	Tourette's Disorder	Genome
1217	25871975	9606	Brain	DSM-IV	Case-control based	Illumina Infinium II 650K//Illumina Infinium HD Gemini 1M Duo//Illumina Human OMNI 5 BeadChips	SNP-array	Rs3783332 genotype was significantly associated with expression in DLPFC, using additive (F6,344=5.68,P=0.0037, Figure 3a) and dominant models (F3,348=10.79,P=0.0011, Figure 3b).	Schizophrenia	Genome
1218	25875614	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Table 3 Nominally significant associations using logistic regression	Drug Abuse	Genome
1219	25877001	9606	Blood	NA	Case-control based	ABI Solid Sequencing	ABI Solid Sequencing	Supplementary Table 1 Validated SNVs identified in DNA from the Finnish and German sample sets	Developmental Dyslexia	Genome
1220	25877001	9606	Blood	NA	Case-control based	ABI Solid Sequencing	ABI Solid Sequencing	Our results strengthen a previous association signal in DCDC2 as well as suggesting S100B as a new candidate gene for DD.(Supplementary Table 1 Validated SNVs identified in DNA from the Finnish and German sample sets)	Developmental Dyslexia	Genome
1221	25887117	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	Here we describe 541 inherited CNV regions, of which 268 are rare in a control population of European origin but present in a large number of Amish individuals. (Table 3 CNVs within genes)	Bipolar Disorder	Genome
1222	25887117	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Here we describe 541 inherited CNV regions, of which 268 are rare in a control population of European origin but present in a large number of Amish individuals. (Table 3 CNVs within genes)	Bipolar Disorder	Genome
1223	25890851	9606	Blood	DSM-IV	Case-control based	NA	qPCR	The association between depression and methylation level was moderated by OXTR rs53576 genotype. Exon 2 methylation was associated with OXTR rs53576 genotype but not with depression.	Depressive Disorder	Genome
1224	25895914	9606	Blood	DSM-IV	Case-control based	ABI 3730	MassARRAY	A significant haplotype association with rs2710102T/+rs17236239A/+2538976A/+2710117A (P=4.10e-006) was identified.	Speech Sound Disorder	Genome
1225	25897225	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Although we found no association between DLGAP1 rs11081062 and EFNA5 rs26728 SNPs with OCD in a Chinese Han population, obvious associations were observed with OCD subphenotypes.	Obsessive Compulsive Disorder	Genome
1226	25918995	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Table 1 Top SNPs (P<5<U+00C3>—10-6) from a GWAS of adult antisocial behavior	Antisocial Personality Disorder	Genome
1227	25919853	9606	Blood//Saliva	NA	Case-control based	NA	qPCR	No significant interactions between rs2242446 genotype and the number of traumatic event types emerged for either anxious arousal outcome, all <U+00CE>2s<0.17, all ps>.01.	Posttraumatic Stress Disorder	Genome
1228	25921615	9606	Blood	NA	Case-control based	NA	qPCR	Lastly, the rs4311 genotype modified the effect of ACE-Is or ARBs on PTSD symptoms (N=443; F1,443=4.41, P<0.05).	Posttraumatic Stress Disorder	Genome
1229	25921703	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	We found significant diagnosis-genotype interactions in the right orbitofrontal regions (rs1625579: F=5.44, P=0.021; rs1198599: F=7.55, P=0.005), left striatum (rs1625579: F=8.09, P=0.007; rs1198599: F=9.56, P=0.002), and negative symptoms (rs1625579: t=2.45, P=0.016; rs1198588: t=2.29, P=0.024). Specifically, SCZ carrying the risk TT genotype had worse negative symptoms and decreased FA in the fronto-striatal regions compared to G and A allele carriers for rs1625579 and rs1198588 respectively, and worse attention and processing speed compared with G-allele for rs1625579.	Schizophrenia	Genome
1230	25921775	9606	Blood	DSM-IV-TR	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The results of the allelic and genotypic distribution of rs2043211 polymorphism in CARD8 showed that both the Tourette syndrome patients group and the parents group are in Hardy-Weinberg equilibrium.	Tourette's Disorder	Genome
1231	25929833	9606	Blood	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The SCARB2 rs6812193 (OR=0.67, 95 % CI=0.51-0.88, p=0.004) and the MAPT rs12185268 (OR-0.43, 95 % CI-0.26-0.72, p=0.001) were associated with RBD in different models.	Rapid Eye Movement Sleep Behavior Disorder	Genome
1232	25935703	9606	Blood	DSM-IV	Case-control based	NA	SNaPshot	Our findings provided supportive evidence for the involvement of ZNF804A rs1344706 in BD, especially in BD-I.	Bipolar Disorder	Genome
1233	25939888	9606	Blood	DSM-IV	Case-control based	Array	SNP-array	NOS3 rs1799983 T homozygous state was associated with violent suicide attempts (26.4% vs. 10.8%, in patients and controls, P=0.002, corrected P (Pc)=0.004, OR: 2.96, 95% CI=1.33-6.34), and this association was restricted to the early-onset BD subgroup (37.9% vs. 10.8%, in early-onset BD and controls, P=0.0003, Pc=0.0006 OR: 5.05, 95% CI: 1.95-12.45), while we found no association with BD per se and no gene-gene interactions.	Bipolar Disorder	Genome
1234	25966232	9606	Blood	NA	Case-control based	NA	qPCR	The genotype frequencies of the rs189037 polymorphism were 33.5% (CC), 50.7% (CT), and 15.8% (TT); the C and T allele frequencies were 58.8 and 41.2%, respectively. No significant differences in the frequency distributions of the CC, CT and TT genotypes were observed between cognitively impaired and control groups. We found that the rs189037 SNP was not directly correlated with cognitive impairment among the elderly Chinese Han population.	Mild Neurocognitive Disorder	Genome
1235	25981510	9606	Blood	DSM-5	Family based	NA	WGS	Table 1 Nonsynonymous SNVs and frameshift INDELs on the remaining allele of chromosome 22q11.2.	Global Developmental Delay	Genome
1236	25988933	9606	Blood	CAPS	Case-control based	Illumina HumanOmniExpress BeadChip	SNP-array	TABLE II Top 10 Variants From GWAS of PTSD Symptoms as Measured by the CAPS	Posttraumatic Stress Disorder	Genome
1237	25988933	9606	Blood	CAPS	Case-control based	Illumina HumanOmniExpress BeadChip	SNP-array	Supplementary Table I. Replication of the top associated SNPs from the Discovery sample peak on chromosome 4 (near rs717947) in the GWAS of PTSD symptoms using the diagnostic measure of PTSD in the Discovery (SBPBC) and Replication (GTP) samples.	Posttraumatic Stress Disorder	Genome
1238	25989041	9606	Blood	DSM-IV	Case-control based	Genotyping //TaqMan	Genotyping //TaqMan	In order to address the reasons for the high heterogeneity previously reported on DRD2 effects on ADHD, this study investigates the role of NTAD variants on ADHD susceptibility in adults and on the modulation of comorbidity and personality profiles in these patients. Functional polymorphisms from NTAD were analyzed, both individually and in haplotypes, on a sample of 520 adults with ADHD and 630 non-ADHD controls.	Attention-Deficit/Hyperactivity Disorder	Genome
1239	25989041	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	Within the sample of adults with ADHD,logistic regression analyses show SNPs from the NCAM1, ANKK1,and DRD2 genes associated with MDD (rs646558 P<0.005, rs1800497 P<0.025 and rs2283265 P<0.005, respectively) and one SNP from the ANKK1 gene associated with GAD (rs1800497 P=0.034) (Table II).	Major Depressive Disorder	Genome
1240	25989041	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Within the sample of adults with ADHD,logistic regression analyses show SNPs from the NCAM1, ANKK1,and DRD2 genes associated with MDD (rs646558 P<0.005, rs1800497 P<0.025 and rs2283265 P<0.005, respectively) and one SNP from the ANKK1 gene associated with GAD (rs1800497 P=0.034) (Table II).	Anxiety Disorder	Genome
1241	25989041	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	TABLE I. SNP Characteristics and Minor Allele Frequencies (MAF)	Attention-Deficit/Hyperactivity Disorder	Genome
1242	25989161	9606	Blood	DSM-IV	Case report	HumanHap550/610-Quad Beadchips	SNP-array	After correcting for multiple testing, using a false discovery rate approach, the associations remained significant for 5 SNPs in NPAS2 (chromosome 2:100793045-100989719): rs6738097 (pc=0.006), rs12622050 (pc=0.006), rs2305159 (pc=0.01), rs1542179 (pc=0.01), and rs1562313 (pc=0.02). The gene-based analysis of the 349 SNPs showed that rs6738097 (NPAS2) and rs1554338 (CRY2) were significantly associated with the SP phenotype	Bipolar Disorder	Genome
1243	25989161	9606	Blood	DSM-IV	Case report	HumanHap550/610-Quad Beadchips	SNP-array	A SP in BD was nominally associated with 14 SNPs identified in 6 circadian genes: NPAS2, CRY2, ARNTL, ARNTL2, RORA and RORB. After correcting for multiple testing, using a false discovery rate approach, the associations remained significant for 5 SNPs in NPAS2 (chromosome 2:100793045-100989719): rs6738097 (pc=0.006), rs12622050 (pc=0.006), rs2305159 (pc=0.01), rs1542179 (pc=0.01), and rs1562313 (pc=0.02). The gene-based analysis of the 349 SNPs showed that rs6738097 (NPAS2) and rs1554338 (CRY2) were significantly associated with the SP phenotype	Bipolar Disorder	Genome
1244	25993607	9606	Blood	DSM-IV	Case-control based	NA	Genotyping//Meta-analysis	Meta-analysis of GWA results across the 29 cohorts revealed one genome-wide significant SNP (rs35855737; P=9.26<U+00C3>—10-9). The SNP is located in an intron of the MAGI1 gene (Figure 1).	Major Depressive Disorder	Genome
1245	26005852	9606	Blood//Cell lines(HEK293T/17//Neuro-2a//SH-SY5Y//HT22//Fibroblasts)	NA	Case-control based	Dual Luciferase assay//qRT-PCR//Western blot	qRT-PCR//Reporter Assay//Western blotting	In this study, we investigated the functional impact of psychiatric risk SNPs in MIR137. We observed an upregulation of endogenous MIR137 in induced human neurons harboring the minor allele of four schizophrenia-associated SNPs in the putative MIR137 region.	Schizophrenia	Genome
1246	26011321	10090	Blood		Case-control based	aCGH	aCGH	Thus, here we provide what is to our knowledge the first extensive catalogue of CNVs in CD-1 mice and potential corresponding candidate genes linked to anxiety-related behavior in mice.(Table 1 Protein coding genes in genomic regions of CNVs detected in HAB/LAB and CD-1 mice.)	Anxiety Disorder	Genome
1247	26011321	10090	Blood	NA	Case-control based	aCGH	aCGH	Thus, here we provide what is to our knowledge the first extensive catalogue of CNVs in CD-1 mice and potential corresponding candidate genes linked to anxiety-related behavior in mice.(Table 1 Protein coding genes in genomic regions of CNVs detected in HAB/LAB and CD-1 mice.)	Anxiety Disorder	Genome
1248	26032970	9606	Saliva	DSM-IV	Case-control based	Illumina Golden Gate	Illumina Golden Gate	Children with ADHD (n = 81) and healthy comparisons (n = 88) collected saliva four times during a regular school day for radioimmunoassay analysis of cortisol and for genotyping of five SNPs in FKBP5 (rs9296158, rs1360780, rs9470080, rs7748266 and rs9394309). We found associations between SNP genotypes and ADHD as well as between genotypes and diurnal cortisol levels. One of these SNPs, rs9470080, was significantly associated with both ADHD and lower cortisol levels.	Attention-Deficit/Hyperactivity Disorder	Genome
1249	26032970	9606	saliva	DSM-IV	Case-control based	TaqMan Assay	TaqMan	One of these SNPs, rs9470080, was significantly associated with both ADHD and lower cortisol levels.	Attention-Deficit/Hyperactivity Disorder	Genome
1250	26047307	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Our findings suggest that the rs10877887 and rs13293512 polymorphisms may be related to the development of MDD.	Major Depressive Disorder	Genome
1251	26051731	9606	Blood	DSM-IV	Case-control based	NA	qPCR	There existed significant differences both in the frequencies of alleles and genotypes between patients and controls for the 5-HT2A receptor gene polymorphism (<U+00CF><U+2021>2=9.267, p=0.01 for genotype; <U+00CF><U+2021>2=7.615,p=0.006 for allele).	Major Depressive Disorder	Genome
1252	26057049	9606	Brain	DSM-IV	Case-control based	NA	qRT-PCR	SNP rs7115246 G-allele carriers had significantly increased (P<0.05) EAAT2 mRNA expression compared with homozygous A-allele carriers (Figure 4a). EAAT2 mRNA was significantly decreased (P<0.05) in SNP rs3794087 C-carriers compared with homozygous A-allele carriers (Figure 4b). EAAT2b mRNA was significantly decreased (P<0.05) in SNP rs16927393 T-carriers compared with homozygous C-allele carriers (Figure 4c). EAAT2 exon9skipping mRNA was significantly increased (P<0.05) in SNP rs4755404 G-carriers compared with homozygous C-allele carriers (Figure 4d). SNP rs3818275 was associated with increases in EAAT2 (P<0.05), EAAT2b (P<0.05) and EAAT2 exon9 skipping (P<0.01) mRNA levels in G-carriers compared with homozygous A-allele carriers (Figure 4e-g). There were no significant effects of the EAAT1 (SLC1A3) SNPs on EAAT1 or EAAT1 exon9skipping mRNA expression (Supplementary Table 3).	Schizophrenia	Genome
1253	26071625	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	The recessive model of rs1535255 was significantly associated in the group of patients (p<0.039).	Schizophrenia	Genome
1254	26093892	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Single nucleotide polymorphism rs12605662 was found to be associated with OCD under the additive allelic model (p<0.001).	Obsessive Compulsive Disorder	Genome
1255	26096985	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	The polymorphism rs3096140 in glial cell line-derived neurotrophic factor gene (GDNF) was significant in the discovery cohort after correction (P=1.5<U+00C3>—10(-4) ). No linkage disequilibrium was found between rs3096140 and other functional variants in the gene. We selected rs3096140 as target polymorphism, and the association was confirmed in the replication cohort (P=0.01). No association with any comorbidity was found.	Tourette's Disorder	Genome
1256	26097611	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Our results suggest that IL-1<U+00CE>± rs17561 and IL-1RN rs315952 polymorphisms may not be associated with susceptibility to TS in Chinese Han population.	Tourette's Disorder	Genome
1257	26098717	9606	Blood	ICD-10	Case-control based	NA	qPCR	The current study investigates whether a specific single nucleotide polymorphism (SNP) of the DIO2 gene, Thr92Ala (T/C); rs 225014 or ORFa-Gly3Asp (C/T); rs 12885300, correlate with the risk for recurrent depression.	Recurrent Depressive Disorder	Genome
1258	26106053	9606	Blood	DSM-IV	Case-control based	NA	Sanger Sequencing	Table 1 is the genotype frequency of all the OXTR SNPs (rs53576, rs2254298, rs2228485, rs2268493 and rs918316) analyzed. Table 2 shows the minor allele frequency for all the SNPs and Chi-square (<U+00CF><U+2021>2) analysis for all the clinical groups compared HC. The results indicated that none of the OXTR SNPs were predictive of development of anorexia nervosa or bulimia nervosa.	Anorexia Nervosa	Genome
1259	26106053	9606	Blood	DSM-IV	Case-control based	NA	Sanger Sequencing	Table 1 is the genotype frequency of all the OXTR SNPs (rs53576, rs2254298, rs2228485, rs2268493 and rs918316) analyzed. Table 2 shows the minor allele frequency for all the SNPs and Chi-square (<U+00CF><U+2021>2) analysis for all the clinical groups compared HC. The results indicated that none of the OXTR SNPs were predictive of development of anorexia nervosa or bulimia nervosa.	Bulimia Nervosa	Genome
1260	26110343	9606	Blood	DSM-IV-TR	Case-control based	NA	qPCR	The presence of the AA +AG genotype of rs53576 in panic disorder had a protective effect compared with the GG genotype [OR =1.8 (1.1-2.8), P =0.02]. The presence of the AA +AG genotype of rs53576 was associated with increased major depressive disorder risk compared with the GG genotype [OR=0.3 (0.2-0.4), P <0.0001]	Panic Disorder	Genome
1261	26110343	9606	Blood	DSM-IV-TR	Case-control based	NA	qPCR	The presence of the AA +AG genotype of rs53576 in panic disorder had a protective effect compared with the GG genotype [OR =1.8 (1.1-2.8), P =0.02]. The presence of the AA +AG genotype of rs53576 was associated with increased major depressive disorder risk compared with the GG genotype [OR=0.3 (0.2-0.4), P <0.0001]	Major Depressive Disorder	Genome
1262	26110876	9606	Blood	NA	Case-control based	Meta-analysis	Meta-analysis	This meta-analysis suggested that the DRD2/ANKK1 TaqIA polymorphism might contribute to TS susceptibility, especially in Caucasian population. However, further investigation with a larger number of worldwide studies should be conducted to verify the association.	Tourette's Disorder	Genome
1263	26114229	9606	Blood	DSM-IV	Case-control based	Illumina HumanHap650 Beadchip//Illumina Human1M-Duo Beadchip//Illumina HumanOmni2.5 Beadchip	SNP-array	Table 2 Main and interactive effects for the SNPs most strongly associated* with PTSD.(Top SNPs in Meta-analysis)	Posttraumatic Stress Disorder	Genome
1264	26114229	9606	Blood	DSM-IV	Case-control based	Illumina HumanHap650 Beadchip//Illumina Human1M-Duo Beadchip//Illumina HumanOmni2.5 Beadchip	SNP-array	Table 3 Main effects of SNPs identified in previously published PTSD GWAS.	Posttraumatic Stress Disorder	Genome
1265	26114229	9606	Blood	DSM-IV	Case-control based	Illumina HumanHap650 Beadchip//Illumina Human1M-Duo Beadchip//Illumina HumanOmni2.5 Beadchip	SNP-array	Table 2 Main and interactive effects for the SNPs most strongly associated* with PTSD.(Top SNPs in NHW subset)	Posttraumatic Stress Disorder	Genome
1266	26114229	9606	Blood	DSM-IV	Case-control based	Illumina HumanHap650 Beadchip//Illumina Human1M-Duo Beadchip//Illumina HumanOmni2.5 Beadchip	SNP-array	Table 2 Main and interactive effects for the SNPs most strongly associated* with PTSD.(Top SNPs in NHB subset)	Posttraumatic Stress Disorder	Genome
1267	26115144	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	No interaction was found between HSD11B2 and exposure during pregnancy, but individuals with the A allele of rs5479 had an increased risk of schizophrenia after exposure at age 3-9 years.	Schizophrenia	Genome
1268	26123324	9606	Blood//Saliva	DSM-IV	Case-control based	NA	Genotyping	Genome-wide association studies implicate the MIR137HG risk variant rs1625579 (MIR137HGrv) within the host gene for microRNA-137 as a potential regulator of schizophrenia susceptibility.	Schizophrenia	Genome
1269	26136966	9606	Blood	DSM-IV	Case-control based	Taqman allelic discrimination assays	TaqMan	No statistically significant difference in major depressive disorder risk was detected between the patients in the case and control groups with the rs2254137 AA, AC and CC genotypes or with the rs16839883 AA genotype (P>0.05; Table II).	Major Depressive Disorder	Genome
1270	26136966	9606	Blood	DSM-IV	Case-control based	Taqman allelic discrimination assays	TaqMan	Patients with the rs16839883 AG genotype exhibited a lower relative risk of major depressive disorder (OR, 0.496; 95% CI, 0.372-0.663; <U+00CF><U+2021>2=22.997; P<0.001), whereas patients with the GG genotype showed a higher risk (OR, 4.04; 95% CI, 2.573-6.348; <U+00CF><U+2021>2=41.285; P<0.001).	Major Depressive Disorder	Genome
1271	26154020	9606	Blood	NA	Case-control based	Illumina human 660K-Quad Beadchips	SNP-array	Table 1 Genome-wide association results for FTD-associated SNPs with p-value<10-6	Frontotemporal Neurocognitive Disorder	Genome
1272	26164485	9606	Blood	DSM-IV	Case-control based	NA	qPCR	The current study explored whether the PENK SNP rs2609997 (PENK) modulates brain function (error-related processing, assessed with fMRI BOLD during an event-related color-word Stroop task) and structure (gray matter integrity, assessed with VBM) in health and CUD.	Cannabis Use Disorder	Genome
1273	26169989	9606	Blood	DSM-IV	Case-control based	NA	qPCR	There was evidence of an interaction between lifetime of PMH use and allele variation in ESR-1 polymorphisms RS2234693 (unadjusted, p=0.01; adjusted, p=0.02) and RS9340799(unadjusted, p=0.007; adjusted, p=0.007) in lifetime major depression.	Major Depressive Disorder	Genome
1274	26184988	9606	Blood	DSM-IV-TR	Case-control based	Illumina Human1M-Duo Beadchip//Illumina HumanOmni2.5 Beadchip	SNP-array	Table 3 Summary of Nicotinic Receptor Gene Effects on PTSD Risk in non-Hispanic Whites (n=743)	Posttraumatic Stress Disorder	Genome
1275	26184988	9606	Blood	DSM-IV-TR	Case-control based	Illumina Human1M-Duo Beadchip//Illumina HumanOmni2.5 Beadchip	SNP-array	Table 2 Summary of Nicotinic Receptor Gene Effects on PTSD Risk in Non-Hispanic Blacks (n=925)	Posttraumatic Stress Disorder	Genome
1276	26204995	9606	Blood	ADI-R//ASDS	Family based	WES	WES	Table 4 Candidate variants, by family, with association test p-value a‰¤ 0.05 in seven families where imputation and association analyses were possible. p-values and means are shown for dosages determined by imputation and whole exome sequence.	Autism Spectrum Disorder	Genome
1277	26206863	9606	Brain	DSM-IV	Case-control based	NA	Genotyping	We replicated the associations of five markers (P<0.05), including three that were located in the predicted MIR137 target genes. Two loci (ITIH3/4: rs2239547, P=1.17<U+00C3>—10(-10) and CALN1: rs2944829, P=9.97<U+00C3>—10(-9)) exhibited genome-wide significance in the Han Chinese population.	Schizophrenia	Genome
1278	26216079	9606	Blood	IIEF-5	Case-control based	NA	qPCR	In conclusion, both serum testosterone levels and AR CAG repeat polymorphism can influence erectile function concomitantly. In subjects with normal TT concentration, those with longer AR CAG repeat lengths have a higher risk of developing ED.	Erectile Disorder	Genome
1279	26235311	9606	Blood	DSM-IV	Family based	NA	qPCR	The family-based association was signifcant between Tourette syndrome and rs4979356 (TDT: <U+00CF><U+2021>2=4.804, P=0.033; HRR=1.75, P=0.002; HHRR=1.32, P=0.027)	Tourette's Disorder	Genome
1280	26235311	9606	Blood	DSM-IV	Family based	NA	qPCR	Signifcant differences were also found in genotype and allele frequency for rs4979357 (HHRR=1.29, <U+00CF><U+2021>2=4.06, P=0.044, 95% CI: 1.007-1.650).	Tourette's Disorder	Genome
1281	26239769	9606	Blood//Buccal swabs	DSM-IV-TR	Case-control based	Sequenom MassARRAY	MassARRAY	Two-locus haplotype analyses using the tagging SNPs within genes showed significant association with ASD owing to the combination between markers rs1912960 (GABRA4, chromosome4) and rs211037 (GABRG2, chromosome 5).	Autism Spectrum Disorder	Genome
1282	26257337	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	Signifcant differences were found in allele and genotype frequencies between patients and controls at 2 SNPs, rs107822 in hsa-miR-219 (p=0.007 for allele;p=0.027 for genotype) and rs890 in GRIN2B (p=0.005 for allele;p=0.001 for genotype).	Schizophrenia	Genome
1283	26262844	9606	Saliva		Case-control based	SNP-array	SNP-array	We detected a BP3-BP5 deletion at chromosome 15q13.1-13.3 predicted to be 3.08 Mb in size (Fig 1A), in a child with language impairment (proband 62). The deletion was validated by qPCR (Fig 1B).	Language Disorder	Genome
1284	26262844	9606	Saliva	NA	Case-control based	SNP Array	SNP-array	We detected a BP3-BP5 deletion at chromosome 15q13.1-13.3 predicted to be 3.08 Mb in size (Fig 1A), in a child with language impairment (proband 62). The deletion was validated by qPCR (Fig 1B).	Language Disorder	Genome
1285	26274327	9606	Blood	DSM-IV	Case-control based	Illumina arrays (HumanHap300//HumanHap610Q//1M-Duo//1.2MDuo 1M)	SNP-array	Table 1 Top associations of ASI GWAS, showing several SNPs of suggestive significance within the RBFOX1 coding region.rs13334105, the only variant of genomewide significant association is shown in bold.	Generalized Anxiety Disorder	Genome
1286	26284518	9606	Blood	NA	Case-control based	NA	Genotyping//Meta-analysis	Table 2 Summary of comparisons of different genetic models for genetic polymorphisms and OSA risk.	Obstructive Sleep Apnea Hypopnea	Genome
1287	26289589	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	TaqMan Genotyping Assay	TaqMan	Table 3 Top 50 candidate SNPs possibly associated with nicotine dependence (CPD)	Tobacco Use Disorder	Genome
1288	26289589	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	TaqMan Genotyping Assay	TaqMan	Table S3. Top 51-100 candidate SNPs possibly associated with nicotine dependence (CPD).	Tobacco Use Disorder	Genome
1289	26313808	9606	Blood	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The frequencies of rs2071746TT genotype and rs2021746T allele were significantly lower in RLS patients than in controls, both in the whole series Table2 and in female gender Table3.	Restless Legs Syndrome	Genome
1290	26313808	9606	Blood	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The frequencies of rs2071747, rs2270363, and rs1051308 did not differ significantly between RLS patient and control groups.	Restless Legs Syndrome	Genome
1291	26317387	9606	Blood	DSM-IV-TR	Case-control based	ABI PRISM 7900HT	MassARRAY	The present study aimed to determine whether the two or novel nonsynonymous variants were identified in Japanese TS patients and carry out an association analysis of the gene in a Japanese population. We did not observe the two or any novel nonsynonymous variants in the gene. In contrast, a significant difference was observed in the distributions of the haplotypes consisting of rs9546538, rs9531520, and rs9593835 between the patients and the controls. This result may partially support the implication of SLITRK1 in the pathogenesis of TS, warranting further studies of the gene.	Tourette's Disorder	Genome
1292	26317759	9606	Blood	DSM-IV-TR	Case-control based	ABI PRISM 3130	MassARRAY	We found that the risk of GTS was associated with rs2228079 and rs5751876 polymorphisms. The GG+GT genotypes of rs2228079 in ADORA1 were underrepresented in GTS patients (p=0.011), whereas T allele of rs5751876 in ADORA2A was overrepresented (p=0.017).	Tourette's Disorder	Genome
1293	26321256	9606	Blood	DSM-IV	Family based	NA	qPCR	We found an over-transmission of the A allele in rs1805476 and the T allele in rs1805502 from parents to their affected children, using the HRR (rs1805476: HRR=0.696, <U+00CF><U+2021>(2)=4.161, P=0.041, 95% CI: 0.491-0.986; rs1805502: HRR=0.697, <U+00CF><U+2021>(2)=3.954, P=0.047, 95% CI: 0.488-0.995). There was also strong evidence for a linkage between polymorphisms and TS using the TDT (rs1805476: TDT=5.447, df=1, P=0.024; rs1805502: TDT=5.233, df=1, P=0.027).	Tourette's Disorder	Genome
1294	26324098	9606	Blood	DSM-IIIR//DSM-IV	Case-control based	NA	qPCR	Four SNPs were found to be associated with PD, in at least one sub-sample. The minor allele of rs17689918 was found to significantly increase risk for PD in females after Bonferroni correction and furthermore decreased CRHR1 mRNA expression in human forebrains and amygdalae. When investigating neural correlates underlying this association in patients with PD using functional magnetic resonance imaging, risk allele carriers of rs17689918 showed aberrant differential conditioning predominantly in the bilateral prefrontal cortex and safety signal processing in the amygdalae, arguing for predominant generalization of fear and hence anxious apprehension.	Panic Disorder	Genome
1295	26324104	9606	Blood	DSM-IV	Case-control based	Microarray	Microarray	145 participants also had neuroimaging data available. Based on previous research, we examined DNA methylation at the CpG locus cg13989295 as well as DNA methylation adjusted for genotype at the methylation-associated SNP (rs7208505) in relationship to whole-brain cortical thickness,posttraumatic stress disorder symptoms (PTSD), and depression symptoms.	Posttraumatic Stress Disorder	Genome
1296	26333800	9606	Blood(Monocytes)//Brain	Others	Case-control based	Genotyping//TaqMan	Genotyping//TaqMan	Overall, our findings suggest that MAPT p.A152T is a rare low penetrance variant likely associated with DLB that may be influenced by coexisting LBD and AD pathology.	Neurocognitive Disorder With Lewy Bodies	Genome
1297	26339899	9606	Blood	DSM-IV	Case-control based	Genotyping	Genotyping	No significant treatment group differences were found. In an exploratory analysis, emotional well-being increased in a subgroup of participants with AA genotype of opioid receptor, mu 1 (OPRM1) A118G polymorphism (p=0.02).	Gambling Disorder	Genome
1298	26345773	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	The T-A (rs1530351-rs4791230) haplotype was observed significantly less frequently(P=0.029) in subjects with schizophrenia.	Schizophrenia	Genome
1299	26346037	9606	Blood	DSM-IV	Case-control based	SNP array//Meta-analysis	SNP-array//Meta-analysis	Significant association was revealed between -141C Ins/Del polymorphism and schizophrenia risk in dominant genetic model (Ins/Ins+Ins/Del versus Del/Del) (odds ratio=0.33, 95% confidence interval=0.14-0.81, z=2.41, P=0.02) in Chinese Han but not in Caucasian, Japanese or India populations.	Schizophrenia	Genome
1300	26347318	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	Collectively, this work implicates rs1076560(T) as one possible risk factor for schizophrenia in the Han Chinese population, and suggests molecular mechanisms by which it may exert such influence.	Schizophrenia	Genome
1301	26348319	9606	Blood	DSM-IV	Case-control based	Affymetrix SNP array 6.0//MassARRAY	SNP-array//MassARRAY	Table S1. The top 100 ranked SNPs associated with response to SSRIs in discovery set	Depressive Disorder	Genome
1302	26350166	9606	Blood	DSM-IV	Case report	Genotyping//RT-PCR	Genotyping//RT-PCR	Clinical severity indexes of 346 bipolar, borderline personality, and adult attention deficit hyperactivity disorders patients were tested for association with the DNA methylation status of eight 5-HT3A R gene CpGs. Relationship between the functional variant rs1062613 (C > T) and methylation status on severity of the disorders were also assessed. Childhood maltreatment was associated with higher severity of the disease (higher number of mood episodes, history of suicide attempts, hospitalization, and younger age at onset) across disorders and within each individual disorder.	Attention-Deficit/Hyperactivity Disorder	Genome
1303	26350166	9606	Blood	DSM-IV	Case report	NA	RT-PCR	The rs1062613 SNP was genotyped automatically by the software based on the relative heights of both peaks generated at positions 2 and 3 written A/G on the sequence to analyze.	Attention-Deficit/Hyperactivity Disorder	Genome
1304	26350166	9606	Blood	DSM-IV	Case report	NA	RT-PCR	The rs1062613 SNP was genotyped automatically by the software based on the relative heights of both peaks generated at positions 2 and 3 written A/G on the sequence to analyze.	Borderline Personality Disorder	Genome
1305	26350166	9606	Blood	DSM-IV	Case report	NA	RT-PCR	The rs1062613 SNP was genotyped automatically by the software based on the relative heights of both peaks generated at positions 2 and 3 written A/G on the sequence to analyze.	Bipolar Disorder	Genome
1306	26350705	9606	Blood	DSM-IV	Family based	SNP Array	SNP-array	We found a significant interaction between birth weight and two NDE1 markers in relation to increased schizophrenia risk: a four SNP haplotype spanning NDE1 (b=1.26, SE=0.5, p=0.012)and one of its constituent SNPs rs4781678	Schizophrenia	Genome
1307	26361067	9606	Blood	PDSS//ASI-R	Case-control based	SNP Array	SNP-array	Three single-nucleotide polymorphisms (SNPs) were found to be associated with PD: rs8076112 miR-22 and rs4977831 and miR-491 rs2039391.	Panic Disorder	Genome
1308	26363619	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Among 15 tSNPs, two of them (rs2075652 and rs7131056) significantly associated with PTSD. PTSD individuals were more likely to carry the rs2075652A and rs7131056A allele compared to the controls (P<0.05).	Posttraumatic Stress Disorder	Genome
1309	26381263	9606	Brain	NA	Case-control based	Affymetrix Genome-Wide Human SNP array 6.0	SNP-array	Among the enriched eQTL sets, the most significant GWAS signals in COGA at pa‰¤10-3 were: 1) rs1780705 for neuronatin (NNAT), a mRNA hub gene in Myellow, associated with AD at p=2.2x10-4, 2) rs13392737 for a long non-coding RNA (PKI55), a mRNA hub gene in Mturquoise, associated with AD at p=1.6x10-4 and 3) rs4243820 for replication protein A2, 32kDa (RPA2), a mRNA hub gene in Mturquoise, associated with an AD at p=4.1x10-4.	Alcohol Use Disorder	Genome
1310	26405221	9606	Blood	DSM-IV	Family based	Illumina HiSeq 2000	SNP-array	Our study reveals variants in these genes with significant effects on neurocognition and schizophrenia risk, identifying a potential pathogenic mechanism for schizophrenia spectrum disorders.(Table S3. Association Results for ABF and Schizophrenia at 5q32-35.3)	Schizophrenia	Genome
1311	26405221	9606	Blood	DSM-IV	Family based	Illumina HiSeq 2000	SNP-array	Table 1. Top Association Results for ABF and Schizophrenia at 5q32-35.3(P<.05)	Schizophrenia	Genome
1312	26405221	9606	Blood	DSM-IV	Family based	Illumina HiSeq 2000	SNP-array	From the gene SYNPO, rs6579797 (MAF=0.032) shows signifcant associations with ABF (P=.015) and schizophrenia (P=.040), as well as jointly (P=.0027)	Schizophrenia	Genome
1313	26405221	9606	Blood	DSM-IV	Family based	Illumina HiSeq 2000	SNP-array	Table S3. Association Results for ABF and Schizophrenia at 5q32-35.3	Schizophrenia	Genome
1314	26421900	9606	Blood	DSM-IV	Case-control based	SNP array//Meta-analysis	SNP-array//Meta-analysis	Next, the association of missense polymorphisms (rs631375, rs13375609, rs522496 and rs2296225) of KIF17 gene in 567 schizophrenia and 710 healthy subjects was examined. Both genotypic distribution and allelic frequency of rs2296225 polymorphism were significantly different between the chronic schizophrenia subjects and controls.	Schizophrenia	Genome
1315	26424418	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	In this study, the effects of four FKBP5 polymorphisms (rs1360780, rs9470080, rs4713902, rs9394309) on IQ and eight other cognitive domains were examined in the context of exposure to childhood maltreatment in 444 cases with schizophrenia and 292 healthy controls.	Schizophrenia	Genome
1316	26433762	9606	NA	DSM-III-R//DSM-IV//DIGS	Case-control based	Affymetrix 6.0 Array	Affymetrix 6.0 Array	The most significant genome-wide finding was observed bipolar with comorbid eating disorder vs. controls within SOX2-OT (p=8.9×10 8 for rs4854912) with a secondary peak in the adjacent FXR1 gene (p=1.2×10 6 for rs1805576) on chromosome 3q26.33.	Anorexia Nervosa	Genome
1317	26436492	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	The PRODH 757TT, 1852AA, and 1766GG genotypes were associated with an increased risk of schizophrenia (odds ratio=1.38, 95% confidence interval: 0.88-2.16, P=0.001, P=0.001, respectively).Results of statistical analysis for this SNP marker are shown in Table 1.	Schizophrenia	Genome
1318	26443249	9606	Blood	WAIS	Case-control based	WES	WES	We identified three novel candidate genes, RIPPLY1, MRPL10, SNX14, and a new mutation in known gene SURF1. All are autosomal genes, except RIPPLY1, which is located on the X chromosome.(Table 3)	Intellectual Disability	Genome
1319	26449981	9606	Saliva	DSM-IV	Case-control based	TaqMan Genotyping Assay	TaqMan	No significant interaction effects were found between parental smoke exposure and DRD4 48 bp VNTR or OPRM1 A118G.	Tobacco Use Disorder	Genome
1320	26454231	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	These data offer preliminary evidence supporting an association between the rs1799923 polymorphism in the CCK gene and PTSD. Additional research is needed to better understand the nature of this relationship.	Posttraumatic Stress Disorder	Genome
1321	26474411	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	In the EU group of 386 schizophrenia cases and 150 controls EGR3 SNP rs1877670 and ARC SNP rs35900184 showed significant associations (p=0.0078 and p=0.0275, respectively).In the AA group of 185 cases and 50 controls, only the ARC SNP revealed significant association (p=0.0448).	Schizophrenia	Genome
1322	26475575	9606	Blood	DSM-IV-TR	Case report	NA	PCR	A common risk variant in CACNA1C supports a sex-dependent effect on longitudinal functioning and functional recovery from episodes of schizophrenia-spectrum but not bipolar disorder	Schizophrenia	Genome
1323	26475575	9606	Blood	DSM-IV-TR	Case report	Affymetrix GeneChip1 6.0 Array	SNP-array	In schizophrenia-spectrum affected males, rs10774035 minor allele (T) carriers had higher GAF scores at three time points (premorbid, worst ever, current). In contrast, females carrying rs10774035 minor alleles had impaired recovery from schizophrenia-spectrum episodes.	Schizophrenia	Genome
1324	26518448	9606	Saliva	DSM-IV	Case-control based	NA	qPCR	There was a statistically significant association of CRHR1 rs242941 with family history regardless of depression status (P=0.043).	Depressive Disorder	Genome
1325	26518448	9606	Saliva	DSM-IV	Case-control based	NA	qPCR	There was also a statistically significant difference for GR rs41423247 and regularity of menstrual periods (P<0.000).	Depressive Disorder	Genome
1326	26523118	9606	Brain		Case-control based	aCGH//RNA-seq	aCGH//RNA-seq	LncRNAs overlapping pathogenic CNVs are ranked based on maximum correlation with known ID genes. 	Intellectual Disability	Genome
1327	26523118	9606	Brain	NA	Case-control based	aCGH//RNA-seq	aCGH//RNA-seq	LncRNAs overlapping pathogenic CNVs are ranked based on maximum correlation with known ID genes.	Intellectual Disability	Genome
1328	26531332	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	In the case-control analysis, the rs9607195 A>G on intergenic area 250kb away from the ISX gene and the rs12738007 A>G on the intron of the MECR gene were the most strongly associated SNPs with the risk of schizophrenia (P=6.2<U+00C3>—10(-8) , OR=0.50 and P=3.7<U+00C3>—10(-7), OR=2.39, respectively).	Schizophrenia	Genome
1329	26556287	9606	Blood	NA	Case-control based	NA	PCR	Table 1. Results of the gene-based tests for the nine microRNAs that withstood Bonferroni correction	Bipolar Disorder	Genome
1330	26582266	9606	Blood	DSM-5	Family based	NA	WES	The possible function, as well as neuronal function of these 32 gene products is shown in Table 2. Five of those 32 genes, POGZ, PLEKHA4, PCNX, PRKD2 and HERC1, have been previously reported as genes with de novo SNVs in ASD.(Table 1 Mutations with possible contributions to de novo ASD risk)	Autism Spectrum Disorder	Genome
1331	26589317	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Genotyping of PD patients and healthy subjects for ACCN2 rs685012 polymorphism showed that the T wildtype allele was the most frequent in both groups (Table 2),	Panic Disorder	Genome
1332	26591772	9606	Blood	NA	Case-control based	Affymetrix Genome-Wide SNP 6. 0 microarray	Microarray	Genotypes and allele frequencies of rs331142 and rs12495133 from DYX1C1 gene, rs11629841 and rs3743205 from ROBOl gene between cases and control groups were significantly different (P<0. 05).	Developmental Dyslexia	Genome
1333	26600580	9606	Blood	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	C >T polymorphism was found to be well-established in our study population of Eastern India with C alleles to be more associated with schizophrenia.	Schizophrenia	Genome
1334	26603468	9606	Blood	DSM-IV//DSM-IV-TR	Case-control based	NA	PCR-RFLP	In single marker analyses the BDNF rs10835210 mutant A allele was significantly associated with schizophrenia.	Schizophrenia	Genome
1335	26616837	9606	Blood	NA	Case-control based	NA	NA	In this study of juvenile delinquents from Northern Russia (n=180), the polymorphism at -1021 was associated neither with early-onset CD nor with psychopathic traits.	Conduct Disorder	Genome
1336	26632733	9606	Blood	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The frequencies of rs731236AA genotype and rs731236A allele were significantly lower in RLS patients than in controls, both in the whole series Table2 and in female gender Table3, and remained significant after multiple comparison analysis according the false discovery rate correction.	Restless Legs Syndrome	Genome
1337	26632733	9606	Blood	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The frequencies of the rs2228570 genotypes and allelic variants did not differ significantly between RLS patients and controls Table2, were not influence by gender Table3, and were unrelated both with the age at onset of RLS Table4 and with the severity of RLS symptoms Table4.	Restless Legs Syndrome	Genome
1338	26632874	9606	Blood	DSM-IV	Case-control based	Microarray	Microarray	We found three SNPs significantly associated with DICER1 expression level after controlling for sex and the principal components: rs10144436 (Wald test P=0.0034; n=191), rs1209904 (Wald test P=P=0.0018; n=191) and rs11160231 (Wald test P=0.0082; n=191). After we performed permutation to adjust for multiple testing17, only two SNPs remained significantly associated with DICER1 expression: rs10144436 (P=0.0034; adjusted P=0.0452) and rs1209904 (P=0.0018; adjusted P=0.0277).	Posttraumatic Stress Disorder	Genome
1339	26633303	9606	Blood	NA	Family based	Affymetrix GeneChip1 6.0 Array	SNP-array	Table 2 PGC SZ experiment-wide significant LD-pruned (r2>0.5) SNPs in the 225 genes imprinted in humans and/or mice and their proxies in the trios data with the parent-of-origin effect (POE) p-values and PGC p-values.	Schizophrenia	Genome
1340	26643377	9606	Blood	ICHD-II	Case-control based	Sequenom MassARRAY	MassARRAY	Among the six tested loci, only MEIS1 was significantly associated with RLS. The most significant SNP of MEIS1,rs2300478, increased the risk of RLS by 1.42-fold in the overall cohort (p=0.0047).(Table 2. The associations between candidate genetic variants and restless legs syndrome (RLS))	Restless Legs Syndrome	Genome
1341	26643377	9606	Blood	ICHD-II	Case-control based	Sequenom MassARRAY	MassARRAY	Table 2. The associations between candidate genetic variants and restless legs syndrome (RLS)	Restless Legs Syndrome	Genome
1342	26643470	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	These results indicate an association between PIK3CA gene polymorphism on the rs7621329(C/T) site and the risk of schizophrenia.	Schizophrenia	Genome
1343	26663532	9606	Blood	NA	Case-control based	SNP array//Meta-analysis	SNP-array//Meta-analysis	TABLE II Novel SNPs Demonstrating Specificity to Particular Family History Subgroups	Schizophrenia	Genome
1344	26674772	9606	Blood	DSM-IV	Case-control based	Illumina Human610-Quad BeadChips	SNP-array	Table 2 Results of single marker association for the SNPs in NLGN1 gene.	Schizophrenia	Genome
1345	26682468	9606	Blood	DSM-IV	Case-control based	Illumina Human Exome BeadChip v1.0	SNP-array	The splice site single nucleotide polymorphism (rs41283526) is located in an alternatively spliced exon of ANK3 and has a strong and significant protective effect against bipolar disorder (odds ratio 5 .31) and schizophrenia (odds ratio 5 .21).	Bipolar Disorder	Genome
1346	26687156	9606	saliva	DSM-IV-TR	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	In this study, we examined the frequency of two SNPs of the COMT gene in an OCD sample and their potential role in specific OCD subgroups categorized according to gender, age at onset, and OCD symptom dimensions.	Obsessive Compulsive Disorder	Genome
1347	26714269	9606	Cell lines(SH-SY5Y)	NA	Case-control based	Microarray	Microarray	Thereby we found variant rs7861254 located near the MIR204 gene to be significantly associated with schizophrenia. This variant resulted in reduced expression of miR-204 in neuronal-like SH-SY5Y cells. Analysis of the consequences of the altered miR-204 expression on the transcriptome of these cells uncovered a new mode of action for miR-204, being the regulation of noncoding RNAs (ncRNAs), including several miRNAs, such as MIR296.	Schizophrenia	Genome
1348	26736035	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	In the discovery stage, we detected association signals within two IL18 pathway genes, IL18R1 and IL18RAP, with the most significant marker being IL18R1 rs1035130 (P=1.84E-7, OR=0.70). I	Schizophrenia	Genome
1349	26746237	9606	Blood	DSM-IV-TR	Case-control based	Genotyping//TaqMan	Genotyping//TaqMan	A cohort of ADHD 290 patients and 340 controls aged 6-18 years were included in a case-control study, stratified by sex and ADHD subtype. Multivariate logistic regression was used to detect the combined effects of multiple variants.	Attention-Deficit/Hyperactivity Disorder	Genome
1350	26746237	9606	Blood	DSM-IV-TR	Case-control based	TaqMan Assay	TaqMan	Table 3 Signifcant results after multiple comparison correction of logistic regression analysis for single markers	Attention-Deficit/Hyperactivity Disorder	Genome
1351	26756393	9606	Blood//Cell lines(EBV immortalized B cells)	DSM-III	Case-control based	NA	qPCR	Only one SNP showed nominal significance,rs1049353, with a P-value of 0.03 in a test for the presence of any minor allele, and marginal significance (P=0.06) under an additive model.	Cannabis Use Disorder	Genome
1352	26766031	9606	Blood	NA	Case-control based	NA	Genotyping//Meta-analysis	Our meta-analysis suggests that rs9939609 is not a risk SNP for MDD in Asian populations by fixed effect model (Z=1.04, P=0.30, OR=0.96, 95% CI=0.90-1.03).	Major Depressive Disorder	Genome
1353	26795442	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	We performed a genome-wide CNV analysis on 6588 patients with schizophrenia and 11,904 control subjects of Han Chinese ancestry.(Table 2. Contribution for Novel Candidate and Previously Reported CNVs in Samples)	Schizophrenia	Genome
1354	26795442	9606	Blood	DSM-IV	Case-control based	Affymetrix Genome-Wide Human SNP 6.0 arrays//Affymetrix Axiom myDesign Human Genotyping arrays//Illumina HumanOmni 1M-Quad chips//Illumina Human660W-Quad chips	SNP-array	We performed a genome-wide CNV analysis on 6588 patients with schizophrenia and 11,904 control subjects of Han Chinese ancestry.(Table 2. Contribution for Novel Candidate and Previously Reported CNVs in Samples)	Schizophrenia	Genome
1355	26799699	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	TABLE I. Allelic and Genotypic Association of the TERT Gene With Paranoia Schizophrenia	Schizophrenia	Genome
1356	26830320	9606	Blood	MDS	Case-control based	Sequenom MassArray//TaqMan assays	MassArray//TaqMan	In this study, we investigated single nucleotide polymorphisms (SNPs) in the IL-10 promoter (rs1800871 and rs1800872) and in the IL-18 promoter (rs1946518 and rs187238) in a Han Chinese cohort (N=933). No associations were found between the aforementioned polymorphisms and cognitive impairment in PD; thus no confirmatory evidence for the hypothesis of IL-10 and IL-18 alleles modulating the risk of cognitive impairment in Chinese PD patients was obtained.	Neurocognitive Disorder Due to Parkinson's Disease	Genome
1357	26831419	9606	Blood		Case-control based	SNP-array	SNP-array	Table I Pathogenic variants seen in patients with idiopathic DD/ID (n=14) with known pathogenic gains/losses	Global Developmental Delay	Genome
1358	26831419	9606	Blood		Case-control based	SNP-array	SNP-array	Table I Pathogenic variants seen in patients with idiopathic DD/ID (n=14) with known pathogenic gains/losses	Intellectual Disability	Genome
1359	26831419	9606	Blood	NA	Case-control based	Affymertix 2.7M Array	SNP-array	Table I Pathogenic variants seen in patients with idiopathic DD/ID (n=14) with known pathogenic gains/losses	Global Developmental Delay	Genome
1360	26831419	9606	Blood	NA	Case-control based	Affymertix 2.7M Array	SNP-array	Table I Pathogenic variants seen in patients with idiopathic DD/ID (n=14) with known pathogenic gains/losses	Intellectual Disability	Genome
1361	26832728	9606	Blood	DSM-IV	Case-control based	Illumina GoldenGate	Illumina GoldenGate	This study presents two rapid and affordable microarray-based strategies to discriminate three clinically important SNPs in genes ADRA2A, SL6CA2, and OPRM1 (rs1800544, rs5569, and rs1799971, respectively).	Attention-Deficit/Hyperactivity Disorder	Genome
1362	26832728	9606	Buccal cell//Blood	DSM-IV	Case-control based	Illumina GoldenGate	Illumina GoldenGate	This study presents two rapid and affordable microarray-based strategies to discriminate three clinically important SNPs in genes ADRA2A, SL6CA2, and OPRM1 (rs1800544, rs5569, and rs1799971, respectively).	Attention-Deficit/Hyperactivity Disorder	Genome
1363	26832728	9606	Blood	DSM-IV	Case-control based	Microarray	Microarray	This study presents two rapid and affordable microarray-based strategies to discriminate three clinically important SNPs in genes ADRA2A, SL6CA2, and OPRM1 (rs1800544, rs5569, and rs1799971, respectively).	Attention-Deficit/Hyperactivity Disorder	Genome
1364	26836416	9606	Brain(Cerebellum)	Others	Case-control based//Family based	Illumina Hiseq2000	Illumina Hiseq2000	Table 2 The frequency of potentially pathogenic variants in DLB cases and controls	Neurocognitive Disorder With Lewy Bodies	Genome
1365	26852906	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	TABLE I. Distribution and Statistical Analysis of the Catechol-O-Methyltransferase (COMT) Gene Polymorphisms and Their Two, Three, and Four Single-Nucleotide Polymorphism (SNP)-Based Haplotype Analyses	Schizophrenia	Genome
1366	26859814	9606	Blood//Buccal swabs	NA	Case-control based	NA	Genotyping	Supplementary table 1. Top associated variants in NTR-GWAS analysis	Obsessive Compulsive Disorder	Genome
1367	26866941	9606	Blood	NA	Case-control based	NA	Genotyping	Besides, a non-synonymous SNP rs1366842 in the exon 4 of ZNF804A was also associated with schizophrenia (P=9.96*10-3, OR=1.095).	Schizophrenia	Genome
1368	26866941	9606	Blood	NA	Case-control based	NA	Genotyping	The European GWAS risk single nucleotide polymorphism (SNP) rs1344706 was nominally associated with schizophrenia in these Asian samples (one-tailed P=4.26*10-2, odds ratio [OR]=1.048),and the association was further strengthened when bipolar disorder data was also included (one-tailed P=1.85*10-2,OR=1.057).	Schizophrenia	Genome
1369	26866941	9606	Blood	NA	Case-control based	NA	Genotyping	The European GWAS risk single nucleotide polymorphism (SNP) rs1344706 was nominally associated with schizophrenia in these Asian samples (one-tailed P=4.26*10-2, odds ratio [OR]=1.048),and the association was further strengthened when bipolar disorder data was also included (one-tailed P=1.85*10-2,OR=1.057).	Bipolar Disorder	Genome
1370	26891860	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	We found that rs16944 minor (A) allele specifically interacted with childhood adversity increasing depressive and anxiety symptoms, while rs1143643a€<U+2122>s minor (A) allele showed protective effect against depressive symptoms after recent life stress.	Anxiety Disorder	Genome
1371	26891860	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	We found that rs16944 minor (A) allele specifically interacted with childhood adversity increasing depressive and anxiety symptoms, while rs1143643a€<U+2122>s minor (A) allele showed protective effect against depressive symptoms after recent life stress.	Depressive Disorder	Genome
1372	26893599	9606	Blood		Case report	Karyotyping	Karyotyping	His karyotype was 46,XY. 1p36 deletion was confirmed by MLPA analysis showing deletions at the TNFRSF18, TNFRSF4, SCNN1D, GNB1, SKI, PANK4, and GABRD genes (Figs. 1B, 2).2). Occupational and speech therapy have been given for his motor and speech delay.	Global Developmental Delay	Genome
1373	26893599	9606	Blood	NA	Case report	Karyotyping	Karyotyping	His karyotype was 46,XY. 1p36 deletion was confirmed by MLPA analysis showing deletions at the TNFRSF18, TNFRSF4, SCNN1D, GNB1, SKI, PANK4, and GABRD genes (Figs. 1B, 2).2). Occupational and speech therapy have been given for his motor and speech delay.	Global Developmental Delay	Genome
1374	26909962	9606	Blood	DSM-IV	Case-control based	Array	SNP-array	The results revealed higher frequency distributions statistically significant (P=0.034) of the homozygous SNP rs7794745 (presumed risk genotype) in ASD patients as compared with control subjects.	Autism Spectrum Disorder	Genome
1375	26931105	9606	Blood	DSM-IV	Family based	Illumina HumanHap550 BeadChip	SNP-array	Table 4 List of the most significant associations with IS (P-value<E-06) in the AGRE cohort	Autism Spectrum Disorder	Genome
1376	26931105	9606	Blood	DSM-IV	Family based	Illumina HumanHap550 BeadChip	SNP-array	Table 3 List of the most significant associations with RSM (P-value<E-06) in the AGRE cohort	Autism Spectrum Disorder	Genome
1377	26938822	9606	Blood	ICD-10	Case-control based	NA	Genotyping	The association of five polymorphisms (rs6191, rs258813, rs33388, rs41423247 and rs10052957) and one complex allele (TCAGT) of NR3C1 gene with increased risk of AN were found.	Anorexia Nervosa	Genome
1378	26941165	9606	Blood	NA	Case-control based	NA	qPCR	Therefore, the aim of the present study was to explore the potential associations between the 5-HTR2A and IL-6 single-nucleotide polymorphisms (SNPs) and OSAHS. In total there were 130 cases and 136 controls collected for genotyping of 5-HTR2A (rs6311) and IL-6 (rs1800796) SNPs.	Obstructive Sleep Apnea Hypopnea	Genome
1379	26944100	9606	Blood	DSM-IV 	Case report			These findings suggested that the determination of the accurate CYP2D6 genotype-predicted phenotype is essential in the clinical setting and individualization of drug therapy.	Autism Spectrum Disorder	Genome
1380	26944100	9606	Blood	DSM-IV	Case report	Luminex assay	Luminex assay	These findings suggested that the determination of the accurate CYP2D6 genotype-predicted phenotype is essential in the clinical setting and individualization of drug therapy.	Autism Spectrum Disorder	Genome
1381	26944100	9606	Blood	DSM-IV	Case report	NA	NA	These findings suggested that the determination of the accurate CYP2D6 genotype-predicted phenotype is essential in the clinical setting and individualization of drug therapy.	Autism Spectrum Disorder	Genome
1382	26947246	9606	Blood	DSM-IV	Case-control based	Illumina HiScan SQ//Illumina HiSeq 2500	Illumina HiScan SQ//Illumina HiSeq 2500	The present study aimed to analyze both single-nucleotide and copy-number variants contributing to the genetic architecture of ADHD. We generated exome data from 30 Brazilian trios with sporadic ADHD. We also analyzed a Brazilian sample of 503 children/adolescent controls from a High Risk Cohort Study for the Development of Childhood Psychiatric Disorders, and also previously published results of five CNV studies and one GWAS meta-analysis of ADHD involving children/adolescents.	Attention-Deficit/Hyperactivity Disorder	Genome
1383	26947246	9606	Brain	DSM-IV	Case-control based	Illumina HiScan SQ//Illumina HiSeq 2500	Illumina HiScan SQ//Illumina HiSeq 2500	The present study aimed to analyze both single-nucleotide and copy-number variants contributing to the genetic architecture of ADHD. We generated exome data from 30 Brazilian trios with sporadic ADHD. We also analyzed a Brazilian sample of 503 children/adolescent controls from a High Risk Cohort Study for the Development of Childhood Psychiatric Disorders, and also previously published results of five CNV studies and one GWAS meta-analysis of ADHD involving children/adolescents.	Attention-Deficit/Hyperactivity Disorder	Genome
1384	26947246	9606	Brain		Case-control based	SNP-array	SNP-array	Sup. Table 1. All putative CNVs (de novo or inherited) found on the Brazilian trios children	Attention-Deficit/Hyperactivity Disorder	Genome
1385	26947246	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	De novo mutations with moderate and high impact (missense, nonsense or splice site): 26 variants were found in 25 genes, and all of them are expressed in brain (Table 1). In the gene VWDE two variants were found in the same family.	Attention-Deficit/Hyperactivity Disorder	Genome
1386	26947246	9606	Brain	NA	Case-control based	HumanCore-12 v1.0 BeadChip	SNP-array	Sup. Table 1. All putative CNVs (de novo or inherited) found on the Brazilian trios children	Attention-Deficit/Hyperactivity Disorder	Genome
1387	26967218	9606	Blood	NA	Case-control based	NA	qPCR	We observed significant differences in genotype distributions of rs302668 (pc=0.025), rs9268877 (pc=0.025), rs9268856 (p<0.001), and rs1980493 (pc=0.045) between cases and controls.	Frontotemporal Neurocognitive Disorder	Genome
1388	26974498	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	We demonstrate an association between the IL-18-607A/C variant and clinical psychopathological symptoms in schizophrenia.	Schizophrenia	Genome
1389	26976043	9606	Blood	NA	Case-control based	Sequenom MassArray//TaqMan assays	MassArray//TaqMan	Table 2 Effect of candidate SNPs on conversion of mild cognitive impairment to Alzheimer's disease	Mild Neurocognitive Disorder Due to Alzheimer's Disease	Genome
1390	26990377	9606	Blood	DSM-IV	Case-control based	WES	WES	Resequencing UNC13B coding regions identified five rare missense variations (T103M, M813T, P1349T,I1362T, and V1525M).These results do not support a contribution of rare missense UNC13B variations to the genetic etiology of schizophrenia in the Japanese population.	Schizophrenia	Genome
1391	26991397	9606	Blood	NA	Case-control based	NA	PCR	An allelic association between elevated f-pg level and the minor allele G of the rs10830963 in MTNR1B was found in BD (case-case model) [P=0.016, odds ratio (OR)=1.49].	Bipolar Disorder	Genome
1392	26997180	9606	Blood	ICD-10	Case-control based	TaqMan Genotyping Assay	TaqMan	The frequency of rs2738888 C allele was higher in controls than in opioid-dependent cases (OR=0.65, p=.045).//In conclusion, the results of the present study suggest that DISC1 rs2738888 polymorphism is associated with opioid dependence.	Opioid Use Disorder	Genome
1393	26997180	9606	Blood	ICD-10	Case-control based	TaqMan Genotyping Assay	TaqMan	Rs6419156 was not associated with substance dependence in the examined sample.	Opioid Use Disorder	Genome
1394	26997408	9606	Blood	CES-D	Case-control based	Affymetrix 6.0//Illumina 550K//Illumina HumanOmni2.5//Illumina 318K//Illumina 370K//Affymetrix 250K//Affymetrix 500K//IPS 50K//Illumina 6k//meta-analysis	SNP-array	One single nucleotide polymorphism (SNP), rs713224, located near the brain-expressed melatonin receptor (MTNR1A) gene, was associated with the somatic complaints domain of depression symptoms, with borderline genome-wide significance (p discovery=3.82<U+00C3>—10-8).	Major Depressive Disorder	Genome
1395	27004590	9606	Brain	NA	Case-control based	SNaPshot	SNaPshot	One hundred and sixteen adult and 95 fetal human brains were initially genotyped for schizophrenia risk SNP rs11191419 and indel ch10_104957618_I (rs202213518), as well as exonic SNPs in BORCS7 (rs4917985), AS3MT (rs1046778), CNNM2 (rs2275271), and NT5C2 (rs3740387), which could serve as allelea€<U+0090>specific tags for the four candidate genes in heterozygous samples.	Schizophrenia	Genome
1396	27005436	9606	Blood	NA	Case-control based	Illumina HumanOmni1_Quad_v1-0 B array	SNP-array	Only two of the individual sentinel SNPs showed significant associations with cognitive decline in the female cohort (rs3764650 in ABCA7, p=0.01; rs3865444 in CD33, p=0.01). None of the top AD-associated SNPs were associated with cognitive decline in the male cohort.	Mild Neurocognitive Disorder	Genome
1397	27010727	9606	Blood	DSM-5	Case-control based	Axiom Genome-Wide CHB 1 Array	SNP-array	The analysis identified a single nucleotide polymorphism (SNP) marker (rs17180299) and 17 haplotypes on the SPON1, GSG1L, and CYP450 genes, including CYP2B6 significantly associated with the plasma concentrations of methadone enantiomers.	Heroin Addiction	Genome
1398	27016271	9606	Blood	NA	Case-control based	WES	WES	TABLE 1 Top 10 Nominally Significant SNP Associations for Each of the 3 Multivariate GWAS Analyses	Language Disorder	Genome
1399	27018473	9606	Blood	ADOS-G	Family based	SNP-array	SNP-array	We estimate a high rate of structural mutation in humans (20%) and propose that genetic risk for ASD is attributable to an elevated frequency of gene-disrupting de novo SVs, but not an elevated rate of genome rearrangement. (Table S5. De Novo SV Validation)	Autism Spectrum Disorder	Genome
1400	27018473	9606	Blood	ADOS-G	Family based	WGS	WGS	We estimate a high rate of structural mutation in humans (20%) and propose that genetic risk for ASD is attributable to an elevated frequency of gene-disrupting de novo SVs, but not an elevated rate of genome rearrangement. (Table S5. De Novo SV Validation)	Autism Spectrum Disorder	Genome
1401	27018473	9606	Blood	ADOS-G	Family based	Array	SNP-array	We estimate a high rate of structural mutation in humans (20%) and propose that genetic risk for ASD is attributable to an elevated frequency of gene-disrupting de novo SVs, but not an elevated rate of genome rearrangement. (Table S5. De Novo SV Validation)	Autism Spectrum Disorder	Genome
1402	27018473	9606	Blood	ADOS-G	Family based	Illumina HiSeq	WGS	We estimate a high rate of structural mutation in humans (20%) and propose that genetic risk for ASD is attributable to an elevated frequency of gene-disrupting de novo SVs, but not an elevated rate of genome rearrangement. (Table S5. De Novo SV Validation)	Autism Spectrum Disorder	Genome
1403	27020768	9606	Blood	DSM-IV//ICD-9	Case-control based	NA	Genotyping//Meta-analysis	The analyses of the COMT gene variant rs4680 started with an evaluation of the whole population (Figs. 2 and 3). The meta-analysis showed a statistical association between the Val108/158Met (rs4680) polymorphism of the COMT gene and schizophrenia in a random effect with recessive model without heterogeneity [OR 1.08 CI 95 % (1.01-1.15)](Table 2; Figs. 4, 5).	Schizophrenia	Genome
1404	27023170	9606	Blood	DSM-IV	Family based	PCR//Sanger sequencing	PCR//Sanger sequencing	Table 1. Summary of confirmed de novo SNVs from exome sequencing in 17 OCD parent trios	Obsessive Compulsive Disorder	Genome
1405	27023174	9606	Blood	SCID-CV//DSM-IV	Case-control based	Axiom Exome Array	SNP-array	Table 2 Association results for SNPs at DNM3	Obsessive Compulsive Disorder	Genome
1406	27023174	9606	Blood	SCID-CV//DSM-IV	Case-control based	Axiom Exome Array	SNP-array	Table 1 Association results for the most significant SNP at those regions with minimal P<1<U+00C3>—10-4	Obsessive Compulsive Disorder	Genome
1407	27028160	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Among the 14 754 participants, 7879 were male, 6875 were female, and the mean (SD) age was 39.2 (10.2) years. Three independent regions with genome-wide significant single-nucleotide polymorphism associations were identified, considering the largest possible sample. These included rs143244591 (<U+00CE>2=0.54, P=4.32<U+00C3>—10-10 for the meta-analysis) in novel antisense transcript RP11-206M11.7;rs146091982 (<U+00CE>2=0.54, P=1.33<U+00C3>—10-9 for the meta-analysis) in the solute carrier family 35 member G1 gene (SLC35G1); and rs77378271 (<U+00CE>2=0.29, P=2.13<U+00C3>—10-8 for the meta-analysis) in the CUB and Sushi multiple domains 1 gene (CSMD1).	Cannabis Use Disorder	Genome
1408	27028512	9606	Blood	DSM-IV	Case-control based	Illumina HumanExome v1.1 chip	SNP-array	Only five of these SNPs reached nominal significance: an intronic variant in the vaccinia related kinase 2 (VRK2) gene, rs2312147 on chromosome 2.[48] A second SNP was also intronic in Neurogenic locus notch homolog 4 (NOTCH4) on chromosome 6 (rs2071286). A single intronic SNP, rs7914558 on chromosome 10 in cyclin M2 (CNNM2) also reached nominal significance. On chromosome 10, 2 SNPs reached nominal significance. The first one is the intergenic rs1602565, and finally rs12807809 near neurogranin (NRGN).	Schizophrenia	Genome
1409	27036876	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Analyses revealed that among men but not women, OXTR rs1042778 TT genotype was associated with increased right amygdala reactivity to angry facial expressions, which was uniquely related to higher levels of antisocial behavior among men.	Antisocial Personality Disorder	Genome
1410	27039372	9606	Blood	DSM-IV	Case-control based	Illumina Human Exome BeadChip v1.0	SNP-array	Linear regressions showed that the COMT rs5993883 GG genotype predicted lower verbal learning (p=0.0006) and memory (p=0.0026) scores, and lower scores on a cognitive control task (p=0.004) in SGA-treated subjects.	Bipolar Disorder	Genome
1411	27042285	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	Our finding provides evidence to support that CNVs affecting PARK2 function might contribute to genetic etiology of a proportion of cases with ASD. (Supplementary Table S4. Six well known ASD-associated CNV loci)	Autism Spectrum Disorder	Genome
1412	27042285	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Our finding provides evidence to support that CNVs affecting PARK2 function might contribute to genetic etiology of a proportion of cases with ASD. (Supplementary Table S4. Six well known ASD-associated CNV loci)	Autism Spectrum Disorder	Genome
1413	27060629	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	No significant differences in allelic or genotype frequency distribution of KIBRA SNP rs17070145 were observed between SCZ and healthy control groups (OR=1.056, 95% CI=0.923-1.20, P=0.4255).	Schizophrenia	Genome
1414	27061230	9606	Blood	NA	Case-control based	TaqMan OpenArray	OpenArray	Table 3. Genotypes, which were tested statistically significant among deceased patients with opioid addiction (DOA), living patients with opioid addiction (LOA) and healthy volunteers (HV)	Opioid Use Disorder	Genome
1415	27080428	9606	Blood	DSM-IV	Case-control based	TaqMan Genotyping Assay	TaqMan	The genotype frequency of rs1129647 showed nominal association with AIP in the log-additive model (P=0.04, Table 3). Similarly, the genotype frequency of rs2290733 also showed minimal association with AIP in the recessive model (P=0.04).	Amphetamine Induced Psychotic Disorder	Genome
1416	27081382	9606	Blood	DSM-IV	Case-control based	Illumina Integrated Bead Array	Illumina Integrated Bead Array	The sample consisted of 180 ADHD children and 159 control children. We diagnosed ADHD according to DSM-IV. ADHD symptoms were evaluated with Conners' Parent Rating Scales and Dupaul Parent ADHD Rating Scales. Blood samples were taken from the 339 subjects, DNA was extracted from blood lymphocytes, and PCR was performed for RELN Polymorphism. Alleles and genotype frequencies were compared using the chi-square test.	Attention-Deficit/Hyperactivity Disorder	Genome
1417	27081382	9606	Blood	DSM-IV	Case-control based	Illumina	SNP-array	This study showed that there was a significant correlation among the frequencies of the rs736707 (OR=1.40, 95% CI=1.03-1.90, p=0.031) of alleles of RELN, but the final conclusions are not definite.	Attention-Deficit/Hyperactivity Disorder	Genome
1418	27091610	9606	Blood	NA	Case report	GoldenGate assay//Sequenom MassARRAY//RFLP	SNP-array//MassARRAY//RFLP	Table 3.Multivariate associations of brain-derived neurotrophic factor single nucleotide polymorphisms with cognitive test z scores	Mild Neurocognitive Disorder	Genome
1419	27091610	9606	Blood	NA	Case report	GoldenGate assay//Sequenom MassARRAY//RFLP	SNP-array//MassARRAY//RFLP	Table 4. Multivariate associations of DTNBP1 single nucleotide polymorphisms with cognitive test z scores	Mild Neurocognitive Disorder	Genome
1420	27091610	9606	Blood	NA	Case report	GoldenGate assay//Sequenom MassARRAY//RFLP	SNP-array//MassARRAY//RFLP	Table 2. Multivariate associations of COMT single nucleotide polymorphisms with cognitive test z scores	Mild Neurocognitive Disorder	Genome
1421	27091718	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Table 2 The association results of 12 SNPs in the HLA region implicated in LASSO model	Schizophrenia	Genome
1422	27102562	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Supplemental Table S1. General information of the 35 SNPs genotyped in the study.	Schizophrenia	Genome
1423	27105045	9606	Blood	NA	Case-control based	NA	PCR	Among the successful genotypings, for rs182784714 there were 3 heterozygotes among 1099 cases and 1 among 731 controls (overall MAF=0.0011, p=NS) and for rs144743617 there were 14 heterozygotes among 1293 cases and 10 among 899 controls (overall MAF=0.0055, p=NS).	Bipolar Disorder	Genome
1424	27113213	9606	Blood		Case-control based	aCGH//Microarray	aCGH//Microarray	We identified five rare de novo deletions and confirmed the clinical utility of array analysis in patients with ID/DD and childhood-onset epilepsy.(Table 2 Rare CNVs detected in 80 patients with ID/DD and epilepsy)	Global Developmental Delay	Genome
1425	27113213	9606	Blood		Case-control based	aCGH//Microarray	aCGH//Microarray	We identified five rare de novo deletions and confirmed the clinical utility of array analysis in patients with ID/DD and childhood-onset epilepsy.(Table 2 Rare CNVs detected in 80 patients with ID/DD and epilepsy)	Intellectual Disability	Genome
1426	27113213	9606	Blood	NA	Case-control based	Microarray//aCGH	aCGH//Microarray	We identified five rare de novo deletions and confirmed the clinical utility of array analysis in patients with ID/DD and childhood-onset epilepsy.(Table 2 Rare CNVs detected in 80 patients with ID/DD and epilepsy)	Intellectual Disability	Genome
1427	27113213	9606	Blood	NA	Case-control based	Microarray//aCGH	aCGH//Microarray	We identified five rare de novo deletions and confirmed the clinical utility of array analysis in patients with ID/DD and childhood-onset epilepsy.(Table 2 Rare CNVs detected in 80 patients with ID/DD and epilepsy)	Global Developmental Delay	Genome
1428	27120077	9606	Cell lines(Lymphoblastoid)	Others	Family based	NimbleGen EZ Exome//Meta-analysis	NimbleGen EZ Exome//Meta-analysis	We performed exome sequencing of 36 affected members with BD from 8 multiplex families and tested rare, segregating variants in 3 independent case-control samples consisting of 3541 BD cases and 4774 controls. We found 84 rare (frequency <1%), segregating variants that were bioinformatically predicted to be damaging.	Bipolar Disorder	Genome
1429	27127891	9606	Blood	NA	Case-control based	NA	qPCR	The frequencies of the rs1051730 and rs6495308 alleles in CHRNA3, and rs55853698 in CHRNA5, and the frequencies of the genotypes in the studied population are shown in Table 3.	Tobacco Use Disorder	Genome
1430	27159506	9606	Blood	DSM-5	Case-control based	NA	qPCR	One genotyped SNP (rs78602344) intronic to thrombospondin 2 (THBS2) was nominally associated in the primary analysis adjusting for psychiatric medication use and significantly associated with the GAD symptoms score in the analysis excluding medication users.	Anxiety Disorder	Genome
1431	27167565	9606	Blood	DSM-IV	Case-control based	Illumina OmniExpress//Exome array//Ilumina PsychChip	SNP-array	We observed a genomewide significant locus in ANKRD55 on chromosome 5 (rs159572; odds ratio [OR]=1.62, p-value =2.43<U+00C3>—10-8; adjusted for cumulative trauma exposure [AOR]=1.68, p-value=1.18<U+00C3>—10-8) in the African American samples from NSS.(Table 2 Genome-wide significant loci in the NSS1, NSS2 and PPDS individual analyses and meta-analyses from the standard GWAS analysis)	Posttraumatic Stress Disorder	Genome
1432	27177030	9606	Blood	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	Table 1 List of cytokine candidate genes and their selected polymorphisms	Schizophrenia	Genome
1433	27177030	9606	Blood	DSM-IV	Case-control based	KASPar assay	KASPar assay	Table 1 List of cytokine candidate genes and their selected polymorphisms	Schizophrenia	Genome
1434	27177030	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Table 1 List of cytokine candidate genes and their selected polymorphisms	Schizophrenia	Genome
1435	27203225	9606	Blood	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	Cigarette smoking has a significant impact on the plasma level of clozapine in Taiwanese schizophrenic patients carrying the homozygous - 163A allele in the CYP1A2 gene.	Schizophrenia	Genome
1436	27209073	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Although the Val66Met polymorphism at the BDNF gene does not seem to play a significant role in children and adolescents with BD or ADHD, BDNF serum levels deserve further attention in future research on neurobiological aspects of BD and ADHD.	Bipolar Disorder	Genome
1437	27213354	9606	Blood	DSM-IV	Case-control based	Array	SNP-array	Despite some conflicting results, our findings supported a role for the polymorphism rs1023159 of the SLC19A1 gene, alone or in combination, as a risk factor for ASD.	Autism Spectrum Disorder	Genome
1438	27217147	9606	Blood//Saliva	DSM-IV	Case-control based	HiSeq2000//HiSeq2500	WES	In summary, we performed the first trio-based WES study for BD and demonstrated potential roles of de novo protein-altering mutations and calcium-related genes in the disease etiology.(Table S2. List of De Novo Mutations with Detailed Annotations)	Bipolar Disorder	Genome
1439	27219346	9606	Blood//Saliva	DSM-IV	Case-control based	Omni-Quad 1M//Omni Express BeadChip//Illumina Infinium PsychArray Beadchip	SNP-array	Examination of rs6779753, the SNP that most associated with PTSD in GTP, showed that the TT genotype associated with lower NLGN1 expression in the cerebellum (P=0.044) but not in the other tissues evaluated.	Posttraumatic Stress Disorder	Genome
1440	27236774	9606	Blood	NA	Case-control based	Sequenom MassARRAY	MassARRAY	These results suggest that the DBH gene may play an important role in the occurrence of SCZ. Also, rs1611114 may be associated with SCZ susceptibility and related clinical symptoms in the Chinese Zhuang but not Han Chinese population.	Schizophrenia	Genome
1441	27244233	9606	Cell Lines(B Lymphoblastoid)		Case-control based	SNP-array	SNP-array	Table 2 SZ and BD associations of 15 previously implicated rare large CNV loci (a) Small common CNVRs significantly associated with SZ (EA)	Schizophrenia	Genome
1442	27244233	9606	Cell Lines(B Lymphoblastoid)		Case-control based	SNP-array	SNP-array	Table 2 SZ and BD associations of 15 previously implicated rare large CNV loci (d) Large CNVRs significantly associated with BD (EA)	Bipolar Disorder	Genome
1443	27244233	9606	Cell Lines(B Lymphoblastoid)		Case-control based	SNP-array	SNP-array	Table 2 SZ and BD associations of 15 previously implicated rare large CNV loci (c) Large CNVRs significantly associated with SZ (EA)	Schizophrenia	Genome
1444	27244233	9606	Cell Lines(B Lymphoblastoid)		Case-control based	SNP-array	SNP-array	Table 2 SZ and BD associations of 15 previously implicated rare large CNV loci (b) Small common CNVRs significantly associated with BD (EA)	Bipolar Disorder	Genome
1445	27244233	9606	Cell Lines(B Lymphoblastoid)		Case-control based	SNP-array	SNP-array	Table 2 SZ and BD associations of 15 previously implicated rare large CNV loci (a) Small common CNVRs significantly associated with SZ (EA)	Intellectual Disability	Genome
1446	27244233	9606	Cell Lines(B Lymphoblastoid)	NA	Case-control based	Affymetrix SNP Array	SNP-array	Table 2 SZ and BD associations of 15 previously implicated rare large CNV loci (a) Small common CNVRs significantly associated with SZ (EA)	Schizophrenia	Genome
1447	27244233	9606	Cell Lines(B Lymphoblastoid)	NA	Case-control based	Affymetrix SNP Array	SNP-array	Table 2 SZ and BD associations of 15 previously implicated rare large CNV loci (b) Small common CNVRs significantly associated with BD (EA)	Bipolar Disorder	Genome
1448	27244233	9606	Cell Lines(B Lymphoblastoid)	NA	Case-control based	Affymetrix SNP Array	SNP-array	Table 2 SZ and BD associations of 15 previously implicated rare large CNV loci (c) Large CNVRs significantly associated with SZ (EA)	Schizophrenia	Genome
1449	27244233	9606	Cell Lines(B Lymphoblastoid)	NA	Case-control based	Affymetrix SNP Array	SNP-array	Table 2 SZ and BD associations of 15 previously implicated rare large CNV loci (d) Large CNVRs significantly associated with BD (EA)	Bipolar Disorder	Genome
1450	27244233	9606	Cell Lines(B Lymphoblastoid)	NA	Case-control based	Affymetrix SNP Array	SNP-array	Table 2 SZ and BD associations of 15 previously implicated rare large CNV loci (a) Small common CNVRs significantly associated with SZ (EA)	Intellectual Disability	Genome
1451	27274248	9606	Blood	DSM-IV	Case-control based	Genotyping//PCR	Genotyping//PCR	After a single dose of Mph, choline levels increased significantly in the striatum of rs133945G>A polymorphism-GG genotypes (P=0.020) and NAA levels rose in the anterior cingulate cortex of rs133946C>G polymorphism-CG genotypes (P=0.014). Both rs133945G>A and rs133946C>G polymorphisms were found to statistically significantly affect the alteration of NAA levels in response to Mph in dorsolateral prefrontal cortex with two-way repeated measure of analysis of variance. Post hoc comparisons revealed a significant difference between CG and GG genotypes of rs133946C>G polymorphisms after Bonferroni adjustment (P=0.016).	Attention-Deficit/Hyperactivity Disorder	Genome
1452	27274248	9606	Blood	DSM-IV	Case-control based	NA	PCR	Both rs133945G>A and rs133946C>G polymorphisms were found to statistically significantly affect the alteration of NAA levels in response to Mph in dorsolateral prefrontal cortex with two-way repeated measure of analysis of variance.	Attention-Deficit/Hyperactivity Disorder	Genome
1453	27283386	9606	Blood	NA	Case-control based	qRT-PCR	qRT-PCR	The present study suggests that the -141C Ins/Del polymorphism carries a significantly increased risk of schizophrenia, while the Taq1A polymorphism carries a significantly decreased risk of schizophrenia susceptibility in Asians.	Schizophrenia	Genome
1454	27287057	9606	Blood(Monocytes)//Brain	Others	Case-control based	ABI 7900HT Fast Real-Time PCR	ABI 7900HT Fast Real-Time PCR	MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies	Neurocognitive Disorder With Lewy Bodies	Genome
1455	27312774	9606	Brain	Others	Case-control based	Illumina HiSeq2500//TaqMan//Sanger Sequencing	Illumina HiSeq2500//TaqMan//Sanger Sequencing	Table 1 Missense mutation implicated in DLB identified by comprehensive genetic analysis of 111 definite DLB cases	Neurocognitive Disorder With Lewy Bodies	Genome
1456	27315593	9606	Blood//Saliva	DSM-III//DSM-IV	Case-control based	Illuminaa€<U+2122>s HumanOmniExpress//HumanOmni2.5 BeadChips	SNP-array	Table 1b Top SNP findings (P-value <5 10-5) of the logistic regression including PC 1 to 5, age and sex as covariates.	Gambling Disorder	Genome
1457	27315593	9606	Blood//Saliva	DSM-III//DSM-IV	Case-control based	Illuminaa€<U+2122>s HumanOmniExpress//HumanOmni2.5 BeadChips	SNP-array	Table 1a Top SNP findings (P-value<5 10-5) for the logistic regression including PC 1 to 5 as covariates.	Gambling Disorder	Genome
1458	27318676	9606	Blood	DSM-IV//ICD-10	Case-control based	Illumina HumanHap300 chip//Illumina HumanHap550 chip//Human-610 Quad Beadchip	SNP-array	Table 1 Summary of the 19 schizophrenia loci in European reports and our analyses in Asian samples	Schizophrenia	Genome
1459	27324142	9606	Blood	DSM-IV	Case report	Human660 (H660)//OmniExpress (OE) BeadChips	SNP-array	In sample 1, the best SNP of PPARGC1A associated with excellent response was rs10517026 (OR=2.26, IC95%=1.17-4.38), and for RORA was rs17204573 (OR=3.46, IC95%=1.52-7.86).	Bipolar Disorder	Genome
1460	27324142	9606	Blood	DSM-IV	Case report	Human660 (H660)//OmniExpress (OE) BeadChips	SNP-array	In sample 2, the best SNP of PPARGC1A associated with excellent response was rs9291455 (OR=4.08, IC95%=0.67-24.71).	Bipolar Disorder	Genome
1461	27346075	9606	Saliva	DSM-IV	Case-control based	Illumina Core Exome-12v1.0 microarray	Microarray	The strongest finding in our analyses was for SNP rs806365,which was nominally associated with a poorer response during the follow-up period in the full sample (P=0.004) and remained significantly associated after multiple testing correction in the fear-based anxiety diagnosis subset (P=0.0011).	Anxiety Disorder	Genome
1462	27346075	9606	Saliva	DSM-IV	Case-control based	Illumina Core Exome-12v1.0 microarray	Microarray	In our analyses, two SNPs (rs12133557 and rs6454676) were nominally associated (P<0.05) with change in symptom severity in both the entire sample and the subset with fear based diagnoses.	Anxiety Disorder	Genome
1463	27346075	9606	Saliva	DSM-IV	Case-control based	Illumina Core Exome-12v1.0 microarray	Microarray	Three of these same sentinel SNPs were also nominally associated with response in the fear-based subset(rs806365; rs7769940; rs2501431).	Anxiety Disorder	Genome
1464	27346075	9606	Buccal swabs//Ssaliva	DSM-IV	Case-control based	Illumina Core Exome-12v1.0 microarray	Microarray	TABLE II. Independent Clumps Nominally Associated (P<0.05) With Treatment Response Between (a) Baseline and Post-Treatment and (b) Post-Treatment and Follow-Up	Anxiety Disorder	Genome
1465	27351946	9606	Blood	ICD-10	Case-control based	NA	qPCR	Table 2 The comparison of genotypes and allele frequencies polymorphisms in the rDD patients and the control group. Odds ratios (OR) with 95% confidence intervals (95% CI) were estimated by the method of logistic regression with age and sex adjustment.	Recurrent Depressive Disorder	Genome
1466	27355213	9606	Blood//Buccal swabs	DSM-IV-TR	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The rs6265 SNP (Val66-Met) of the BDNF gene was determined using the Taqman 5a€<U+02DC> exonuclease assay -Applied Biosystems (AB)- and genotyped using AB TaqMan technology. The probe for genotyping the rs6265 was ordered through the TaqMan SNP Genotyping assays AB assay-on-demand service(code C_11592758_10).	Panic Disorder	Genome
1467	27364329	9606	Blood	DSM-IV	Case-control based	Next-Generation Sequencing//Luciferase Reporter Assay	Next-Generation Sequencing//Luciferase Reporter Assay	In a previous study, we described the association of DIRAS2 rs1412005, as well as a haplotype containing this polymorphism and located in the promoter region of this gene with attention-deficit/hyperactivity disorder (ADHD). In the present study, we searched for rare variants within or near the DIRAS2 gene that might be associated with ADHD using next-generation sequencing.	Attention-Deficit/Hyperactivity Disorder	Genome
1468	27364329	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	To verify the sequencing results, the DNA of ADHD patients and controls that had been sequenced, was individually genotyped using TaqMan probes specific for six of the eight identified variants (rs10993608, rs80274505, rs6479611,and variants at positions 93402517, 93409910, and 93410462;the remaining two were omitted owing to their borderline significance not surviving correction for multiple testing).(Table 1)	Attention-Deficit/Hyperactivity Disorder	Genome
1469	27377754	9606	Blood	DSM-IV	Case-control based	SNP array//Meta-analysis	SNP-array//Meta-analysis	No significant association was found between the SCZ patients and controls for any allele or genotype frequency of the SNP rs10503253 (all P>0.05).	Schizophrenia	Genome
1470	27380186	9606	Blood	DSM-IV	Case-control based	Meta-analysis	Meta-analysis	The aim of this meta-analysis is to assess the associations between two most widely investigated polymorphisms (rs3746544 and rs1051312) in the 3'UTR of the SNAP-25 gene and susceptibility of ADHD. Two investigators selected related studies and assessed methodological quality independently. Six studies were included in this meta-analysis for a total of 715 cases and 655 controls.	Attention-Deficit/Hyperactivity Disorder	Genome
1471	27380186	9606	Blood	DSM-IV	Case-control based	SNP array//Meta-analysis	SNP-array//Meta-analysis	Our result suggests that the polymorphisms rs3746544 and rs1051312 may increase the odds of developing ADHD.	Attention-Deficit/Hyperactivity Disorder	Genome
1472	27400218	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Childhood overweight and the SNP rs41423247 of the glucocorticoid receptor gene (GR) were reported to represent predisposing factors for Eating Disorders (EDs),G-allele carriers reporting childhood overweight showed greater frequency of subjective binge eating and emotional eating.	Anorexia Nervosa	Genome
1473	27400218	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Childhood overweight and the SNP rs41423247 of the glucocorticoid receptor gene (GR) were reported to represent predisposing factors for Eating Disorders (EDs),G-allele carriers reporting childhood overweight showed greater frequency of subjective binge eating and emotional eating.	Bulimia Nervosa	Genome
1474	27441470	9606	Blood	CSR-CSA	Case-control based	NA	NA	The data presented in this study provides the first evidence that a polymorphism in the HSPB7 gene (rs1739843) is a risk factor for susceptibility to CSR-CSA in Chinese Han DCM patients with CHF,which imply such patients may have genetic predisposition.	Central Sleep Apnea	Genome
1475	27447284	9606	Blood	DSM-IV-TR	Case-control based	PCR-RFLP	PCR-RFLP	The frequency of COMT 472G allele compared to the A allele in cases and controls was not significant ( p=0.078); however there was a synergism between the presence of MTHFR 677T and COMT 472G alleles that increased the risk of BID by 2.58-fold ( p=0.003).	Bipolar Disorder	Genome
1476	27450446	9606	Blood	DSM-IV	Case-control based	Affymetrix Axiom Genome-Wide CHB1 Array	SNP-array	Table 1. Results of Single Marker Associations for Bipolar II Disorder	Bipolar II Disorder	Genome
1477	27450446	9606	Blood	DSM-IV	Case-control based	Affymetrix Axiom Genome-Wide CHB1 Array	SNP-array	Seven markers were found to be associated with bipolar disorder subtype II in meta-analysis combining both discovery and replication samples (P<5.0<U+00C3>—10-6), including markers in or close to MYO16, HSP90AB3P, noncoding gene LOC100507632,and markers in chromosomes 4 and 10.(Table 1)	Bipolar II Disorder	Genome
1478	27456824	9606	Blood	NA	Case-control based	NA	NA	In conclusion,our study indicates a probable association between ABCB1 gene polymorphisms and clinical efficacy/safety in Han Chinese schizophrenic patients treated with risperidone or paliperidone.	Schizophrenia	Genome
1479	27456824	9606	Blood	NA	Case-control based	NA	NA	Qinghe Xing et al. [6] reported that the TT genotype of locus rs1128503 in the ABCB1 gene is associated with a better response to risperidone treatment.	Schizophrenia	Genome
1480	27456824	9606	Blood	NA	Case-control based	NA	NA	A previous study reported that the synonymous single nucleotide polymorphism (SNP) C3435T (rs1045642) affects the timing of co-translational folding and insertion of P-gp into the membrane, and alters the structure of the substrate and inhibitor interaction sites [4].	Schizophrenia	Genome
1481	27456824	9606	Blood	NA	Case-control based	NA	NA	Bozina et al. [5] found that the T allele and TT genotype of G2677T (rs2032582) are associated with a better treatment response to olanzapine in female schizophrenic patients.	Schizophrenia	Genome
1482	27489308	9606	Blood	DSM-IV	Case-control based	Illumina HumanOmni2.5-Quad BeadChip SNP Array//qPCR//PLINK Analysis	Illumina HumanOmni2.5-Quad BeadChip SNP Array//qPCR//PLINK Analysis	CNV analysis was performed on 82 extensively phenotyped Canadian children with DCD, with or without co-occurring ADHD and/or reading disorder, and 2988 healthy European controls using identical genome-wide SNP microarrays and CNV calling algorithms.	Attention-Deficit/Hyperactivity Disorder	Genome
1483	27489308	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	Table 3 Copy-number variations (CNVs) at loci previously implicated in ADHD and other neurodevelopmental disorders	Developmental Coordination Disorder	Genome
1484	27489308	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	Table 3 Copy-number variations (CNVs) at loci previously implicated in ADHD and other neurodevelopmental disorders	Attention-Deficit/Hyperactivity Disorder	Genome
1485	27489308	9606	Blood	NA	Case-control based	NA	Genotyping	Our results suggest that common variation at 5p14.1 is associated with social communication spectrum phenotypes in the general population and support the role of rs4307059 as a quantitative trait locus for autism spectrum disorder.	Communication Disorder	Genome
1486	27489308	9606	Blood	NA	Case-control based	NA	Genotyping	Our results suggest that common variation at 5p14.1 is associated with social communication spectrum phenotypes in the general population and support the role of rs4307059 as a quantitative trait locus for autism spectrum disorder.	Autism Spectrum Disorder	Genome
1487	27489308	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Table 3 Copy-number variations (CNVs) at loci previously implicated in ADHD and other neurodevelopmental disorders	Developmental Coordination Disorder	Genome
1488	27489308	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Table 3 Copy-number variations (CNVs) at loci previously implicated in ADHD and other neurodevelopmental disorders	Attention-Deficit/Hyperactivity Disorder	Genome
1489	27519580	9606	Blood	DSM-IV 	Case-control based	aCGH	aCGH	We confirmed that 22q13.3 deletions, affecting the gene SHANK3, predispose to catatonia, and we uncover 14q11.2 duplications as a novel susceptibility factor for intellectual and psychiatric disorders.	Catatonia	Genome
1490	27519580	9606	Blood	DSM-IV	Case-control based	aCGH	aCGH	We confirmed that 22q13.3 deletions, affecting the gene SHANK3, predispose to catatonia, and we uncover 14q11.2 duplications as a novel susceptibility factor for intellectual and psychiatric disorders.	Catatonia	Genome
1491	27519822	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	We identified one replicated genome-wide significant locus associated with adult-onset (>27 years) MDD (rs7647854, odds ratio: 1.16, 95% confidence interval: 1.11-1.21, p=5.2<U+00C3>—10-11).	Major Depressive Disorder	Genome
1492	27521182	9606	Blood//Brain	Others	Case-control based	ABI 3730XL DNA Sequencer//Sequenom Mass Array iPlex Gold//Neuropathologic assessment	ABI 3730XL DNA Sequencer//Sequenom Mass Array iPlex Gold//Neuropathologic assessment	One clinical DLB patient was a p.G2019S carrier, while in the pathological high likelihood DLB series there was one carrier of the p.R1441C mutation.	Neurocognitive Disorder With Lewy Bodies	Genome
1493	27529419	9606	Blood	DSM-IV	Case-control based	Taqman allelic discrimination assays	TaqMan	After genotyping 241 TS nuclear families trios, we analyzed three tag HDC single nucleotide polymorphisms (rs854150, rs854151, and rs854157) in a family-based study using the transmission disequilibrium test (TDT) and haplotype relative risk (HRR).	Tourette's Disorder	Genome
1494	27531626	9606	Blood	DSM-IV	Case-control based	Illumina 2.5M array	SNP-array	A trans-population genome-wide significant signal was identified in LHPP (rs34997829; z=-5.573, p=2.51<U+00C3>—10-8) in the GxAD analysis that also showed associations in the AD-stratified association analysis (AD z=-2.032 and non-AD z=4.903).	Alcohol Use Disorder	Genome
1495	27537871	9606	Blood	DSM-IV	Case-control based	HumanOmniExpress Illumina BeadChip	SNP-array	In conclusion, we report for the first time a significant association between a miRNA polymorphism (rs895819) and daily alcohol consumption.	Alcohol Use Disorder	Genome
1496	27538541	9606	Blood	NA	Case-control based	PCR-RFLP	PCR-RFLP	Individuals with -181 AG, -181GG genotype, and G allele of MMP-7 were found to have reduced the risk of development of HAND but not significant (50.0% vs 51.9%, p=0.09, OR=0.54; 13.1% vs 19.0%, p=0.33, OR=0.71 and 38.1% vs 44.9%, p=0.09, OR=0.75).	Neurocognitive Disorder Due to HIV	Genome
1497	27542340	9606	Blood	DSM-IV	Case-control based	TaqMan Genotyping Assay	TaqMan	The results showed the genotype and allele frequencies of rs17189632 and rs2240158 were significantly different between the cases and the controls (nominal P values were 0.0284, 0.0136 for rs17189632; 0.0048, 0.0013 for rs2240158, respectively).	Heroin Addiction	Genome
1498	27542340	9606	Blood	DSM-IV	Case-control based	TaqMan Genotyping Assay	TaqMan	Table 2 Haplotype frequencies of GRIN3A and GRIN3B variants between cases and controls	Heroin Addiction	Genome
1499	27551834	9606	Blood	IHDS	Case-control based	PCR-RFLP	PCR-RFLP	Individuals with the MMP-2 -735 CT genotype and -735 T allele were at higher risk of developing HAND [odds ratio (OR)=5.27, 95% confidence interval (CI)=1.30-21.35, p=0.02 and OR=2.27, 95% CI=1.57-3.27, p=0.0001 respectively].	Neurocognitive Disorder Due to HIV	Genome
1500	27576168	9606	Blood	DSM-IV	Case-control based	SNP-array//RT-qPCR	SNP-array//RT-qPCR	We performed a comprehensive association study focused on 134 miRNAs in 754 ADHD subjects and 766 controls and found association between the miR-34b/c locus and ADHD. Subsequently, we provided preliminary evidence for overexpression of the miR-34c-3p mature form in peripheral blood mononuclear cells of ADHD subjects. Our results provide preliminary evidence for the contribution to ADHD of a functional variant in the pri-miR-34b/c promoter, possibly through dysregulation of the expression of mature forms of miR-34b and miR-34c and some target genes.	Attention-Deficit/Hyperactivity Disorder	Genome
1501	27576168	9606	Blood	DSM-IV	Case-control based	Genechip Human Gene 1.1 ST 96-Array	SNP-array	The single-marker analysis showed nominal association between ADHD and four SNPs in three genes: rs1621 and rs6566 within the MET gene (P=8.3e-03, OR=1.23 (1.06-1.44) and P=0.017, OR=1.19 (1.03-1.39), respectively), rs699779 in the NOTCH2 gene (P=7.7e-03; OR=3.45 (1.28-9.09)) and rs1175982 in the HMGA2 gene (P=7.5e-03; OR=1.34 (1.08-1.67); Table 1b, Supplementary Figure 1).	Attention-Deficit/Hyperactivity Disorder	Genome
1502	27579596	9606	Blood	DSM-IV	Family based	NA	qPCR	However, there was no evidence of growth retardation, failure to thrive or specific deficiency syndromes in the group we studied.(Table 1)	Binge Eating Disorder	Genome
1503	27579596	9606	Blood	DSM-IV	Family based	NA	qPCR	However, there was no evidence of growth retardation, failure to thrive or specific deficiency syndromes in the group we studied.(Table 1)	Bulimia Nervosa	Genome
1504	27598967	9606	Blood	NA	Case-control based	Illumina Human670QuadCustom Beadchip//HumanHap610-Quad SNP array//Sequenom Genotyping	SNP-array//MassArray	Table 2 The results for the eight best hits in Discovery Cohort (GWAS) and Replication Cohort (Sequenom Genotyping)(ASPD males and females)	Antisocial Personality Disorder	Genome
1505	27598967	9606	Blood	DSM-IV//SCID-II	Case-control based	Human670QuadCustom Beadchip//HumanHap610-Quad SNP array	SNP-array	Supplementary Table 1a. The 50 most significant associations in the analysis of ASPD in the whole GWAS sample of ASPD cases compared with population-based controls.	Antisocial Personality Disorder	Genome
1506	27598967	9606	Blood	DSM-IV//SCID-II	Case-control based	Human670QuadCustom Beadchip//HumanHap610-Quad SNP array	SNP-array	The next strongest associations were observed for rs9268528 (OR=0.58 (0.46-0.72), P=9.9<U+00C3>—10 - 7) and rs9268542 (OR=0.58 (0.46-0.72), P=1.1<U+00C3>—10 - 6), located on chromosome 6p21.32, intragenic of the BNTL2 and HLA-DRA genes.	Antisocial Personality Disorder	Genome
1507	27598967	9606	Blood	DSM-IV//SCID-II	Case-control based	Human670QuadCustom Beadchip//HumanHap610-Quad SNP array	SNP-array	The strongest signal for association in the combined analysis of males and females was detected in chromosome 7p22.2, in the vicinity the SDK1 gene, for rs6462756 (odds ratio (OR)=1.84 (1.45- 2.33), P=5.5<U+00C3>—10 - 7).	Antisocial Personality Disorder	Genome
1508	27602560	9606	Blood		Case-control based	SNP-array//Meta-analysis	SNP-array//Meta-analysis	Table 1 Association of ID CNV Loci With Schizophrenia	Schizophrenia	Genome
1509	27602560	9606	Blood		Case-control based	SNP-array//Meta-analysis	SNP-array//Meta-analysis	Table 1 Association of ID CNV Loci With Schizophrenia	Intellectual Disability	Genome
1510	27602560	9606	Blood	NA	Case-control based	Array//Meta-analysis	SNP-array//Meta-analysis	Table 1 Association of ID CNV Loci With Schizophrenia	Intellectual Disability	Genome
1511	27602560	9606	Blood	NA	Case-control based	Array//Meta-analysis	SNP-array//Meta-analysis	Table 1 Association of ID CNV Loci With Schizophrenia	Schizophrenia	Genome
1512	27605030	9606	Blood	DSM-IV 	Case-control based	SNP-array	SNP-array	Table 3 Signal differences between case and control pools for identified CNV regions.	Bipolar Disorder	Genome
1513	27605030	9606	Blood	DSM-IV	Case-control based	Illumina Human Omni1-Quad array	SNP-array	Table 3 Signal differences between case and control pools for identified CNV regions.	Bipolar Disorder	Genome
1514	27611910	9606	Blood	DSM-IV	Case-control based	Array	SNP-array	Our results showed a significant association between ASD and the rs251684 variant of PLA2G4C (transmitted/nontransmitted=36/21, <U+00CF><U+2021>2=3.947, p=0.047), but no association between ASD and the other eight SNPs investigated (all p>0.05).	Autism Spectrum Disorder	Genome
1515	27627841	9606	Blood	DSM-IV	Case-control based	Genotyping//TaqMan	Genotyping//TaqMan	A case-control study with a total of 150 children with ADHD (mean age 9.61; range 6-16; gender ratio 105m/45f) and 150 normal children (mean age 10.02; range 6-16; gender ratio 98m/52f) was conducted. Genomic DNA was extracted from peripheral blood of all samples and SNPs rs78428954 and rs3746544 located in SNAP-25 gene were genotyped.	Attention-Deficit/Hyperactivity Disorder	Genome
1516	27627841	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	Genomic DNA was extracted from peripheral blood of all samples and SNPs rs78428954 and rs3746544 located in SNAP-25 gene were genotyped.Our analysis indicated that there is no significant association between none of studied variants in SNAP-25 and ADHD.	Attention-Deficit/Hyperactivity Disorder	Genome
1517	27650969	9606	Blood	ICD-10	Case-control based	aCGH	aCGH	Table 1 Likely pathogenic CNVs and psychiatric phenotypes in adults with ID referred to psychiatric services	Intellectual Disability	Genome
1518	27650969	9606	Blood	ICD-10	Case-control based	aCGH	aCGH	Table 1 Likely pathogenic CNVs and psychiatric phenotypes in adults with ID referred to psychiatric services	Intellectual Disability	Genome
1519	27651829	9606	Blood	DSM-IV-TR	Case report	NimbleGen 720k Whole-Genome Tiling Array//Agilent SurePrint G3 Human CGH 400k	NimbleGen 720k Whole-Genome Tiling Array//Agilent SurePrint G3 Human CGH 400k	We report on an 11 year-old boy, admitted to the pediatric hospital for behavioral difficulties and a delayed neurodevelopmental trajectory. A cytogenetic analysis and high-resolution microarray comparative genomic hybridization (CGH) analysis was performed. The cytogenetic analysis revealed 47,XYY syndrome, while CGH analysis revealed an additional duplication and two deletions. The 7q11.23 duplication is associated with speech and language delay and behavioral symptoms, a 20q13.33 deletion is associated with autism and early onset schizophrenia and the 11p15.5 microdeletion is associated with developmental delay, autism, and epilepsy.	Attention-Deficit/Hyperactivity Disorder	Genome
1520	27651829	9606	Blood	DSM-IV-TR	Case report	aCGH//SNP microarrays	aCGH//SNP microarrays	We report on an 11 year-old boy, admitted to the pediatric hospital for behavioral difficulties and a delayed neurodevelopmental trajectory.	Attention-Deficit/Hyperactivity Disorder	Genome
1521	27651829	9606	Blood	DSM-IV-TR	Case report	aCGH//SNP microarrays	aCGH//SNP microarrays	We report on an 11 year-old boy, admitted to the pediatric hospital for behavioral difficulties and a delayed neurodevelopmental trajectory.	Conduct Disorder	Genome
1522	27651829	9606	Blood	DSM-IV-TR	Case report	Agilent Human Genome 4X180K	aCGH//SNP microarrays	We report on an 11 year-old boy, admitted to the pediatric hospital for behavioral difficulties and a delayed neurodevelopmental trajectory.	Conduct Disorder	Genome
1523	27651829	9606	Blood	DSM-IV-TR	Case report	Agilent Human Genome 4X180K	aCGH//SNP microarrays	We report on an 11 year-old boy, admitted to the pediatric hospital for behavioral difficulties and a delayed neurodevelopmental trajectory.	Attention-Deficit/Hyperactivity Disorder	Genome
1524	27654063	9606	Blood	ICD-10	Case-control based	Sequenom MassARRAY	MassARRAY	This study revealed an association between HPRL and X-chromosome haplotypes comprised of the rs569959 and rs17326429 polymorphisms.	Schizophrenia	Genome
1525	27716956	9606	Blood	DSM-IV	Case-control based	Illumina OmniExpress BeadChip array	SNP-array	This study is to our knowledge the first showing the impact of FAAH C385A variation on biochemistry, behavior and clinical symptoms in subjects with disorders characterized by increased stress reactivity.	Posttraumatic Stress Disorder	Genome
1526	27734840	9606	Blood	NA	Case-control based	Sequenom MassARRAY	MassARRAY	After the Bonferonni correction for multiple comparisons, only SNP rs8049367 (OR=1.4100, 95% CI=1.0920-1.8220) on chromosome 17 was significantly associated with DD under additive models, indicating rs8049367 is a potential SNP marker for DD.	Developmental Dyslexia	Genome
1527	27756686	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	The results showed that the 5-HT1A rs10042486 was significantly associated with SZ (Pallele=0.0369, Pgenotype=0.0098).	Schizophrenia	Genome
1528	27756686	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Table 3 Linkage disequilibrium between pairwise SNPs both in SZ and MDD case-control analysis.	Schizophrenia	Genome
1529	27756686	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Moreover, the haplotype (C-T) composed of rs10042486 and rs1364043 showed significant difference between SZ cases and healthy controls (P=0.0302) while another haplotype (T-G) was significant for MDD (P=0.0247).	Schizophrenia	Genome
1530	27766957	9606	Blood		Family based	aCGH	aCGH	Deletion was observed in chromosome 8 with cytoband 8p23-p21 CSMD1 gene and copy number gain were observed in the chromosome 1, 16 and 22 with LCE3C, HPR, GSTT2 and GSTTP2 genes respectively. 	Intellectual Disability	Genome
1531	27766957	9606	Blood	NA	Family based	aCGH	aCGH	Deletion was observed in chromosome 8 with cytoband 8p23-p21 CSMD1 gene and copy number gain were observed in the chromosome 1, 16 and 22 with LCE3C, HPR, GSTT2 and GSTTP2 genes respectively.	Intellectual Disability	Genome
1532	27769642	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	COMT Val158Met polymorphism (rs4680) was genotyped utilizing TaqMan SNP Genotyping Assay as described by the manufacturer (Applied Biosystems, Carlsbad, CA).	Posttraumatic Stress Disorder	Genome
1533	27772736	9606	Blood//Saliva	NA	Case-control based	TaqMan PCR assay	TaqMan	Table 2 Associations between VDR SNPs and decreases in total MMSE score in points per year of follow-up	Neurocognitive Disorder Due to Parkinson's Disease	Genome
1534	27775175	9606	Brain	NA	Case-control based	Illumina Hiseq2000	SNP-array	TABLE IIIa-b. List of Investigated PTSD Risk SNPs(Table IIIa. a€<U+0153>GWAS-Positivea€<U+009D> PTSD Risk SNPs at P<10-8)	Posttraumatic Stress Disorder	Genome
1535	27775175	9606	Brain	NA	Case-control based	Illumina Hiseq2000	SNP-array	TABLE IV. Significant eQTL Associations from LIBD DLPFC RNA Sequencing Dataset (n 5 237, Table Ia)	Posttraumatic Stress Disorder	Genome
1536	27775175	9606	Brain	NA	Case-control based	Illumina Hiseq2000	SNP-array	TABLE IIIa-b. List of Investigated PTSD Risk SNPs(IIIa-b. a€<U+0153>Candidatea€<U+009D> PTSD Risk SNPs at P<10-5)	Posttraumatic Stress Disorder	Genome
1537	27776952	9606	Blood	DSM-IV	Case-control based	SNP array//Meta-analysis	SNP-array//Meta-analysis	This study revealed a significant association between the polymorphic variant rs1341239 and the development of hyperprolactinemia in patients with schizophrenia.	Schizophrenia	Genome
1538	27797824	9606	Blood	NA	Case-control based	SNP Array	SNP-array	Table 3. Genetic markers with P value for interaction<5<U+00C3>—10-7 in gender-specific analysis	Caffeine Use Disorder	Genome
1539	27798936	9606	Blood	DSM-IV	Case-control based	SNP array//Meta-analysis	SNP-array//Meta-analysis	We found a significant association of the rs909706 polymorphism with attention (p=0.030) and a nonsignificant trend for set-shifting (p=0.060).	Schizophrenia	Genome
1540	27814994	9606	Blood	ISCD-2	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	wo single nucleotide polymorphisms, rs429358 and rs7412, were genotyped in RBD patients (n=480) and in controls (n=823). APOE <U+00CE>μ4 allele frequency was 0.14 among RBD patients and 0.13 among controls (OR=1.11, 95% CI: 0.88-1.40, p=0.41). APOE <U+00CE>μ4 allele frequencies were similar in those who converted to DLB (0.14) and those who converted to Parkinson's disease (0.12) or multiple system atrophy (0.14, p=1.0). The APOE <U+00CE>μ4 allele is neither a risk factor for RBD nor it is associated with conversion from RBD to DLB or other synucleinopathies.	Rapid Eye Movement Sleep Behavior Disorder	Genome
1541	27819519	9606	Blood	NA	Case-control based	PCR-RFLP	PCR-RFLP	In conclusion, our results showed a significant association between +874A/T polymorphism of IFN-<U+00CE>3 and paranoid schizophrenia, suggesting that this single nucleotide polymorphism (SNP) or another at proximity could predispose to paranoid schizophrenia.	Paranoid Schizophrenia	Genome
1542	27826991	9606	Blood	DSM-5	Case-control based	SNP Array	SNP-array	Table 2. SNPs with statistically different (p<0.05) MAFs between Internet gaming disorder patients and normal control subjects	Internet Gaming Disorder	Genome
1543	27837280	9606	Blood	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	RLS patients carrying the genotype rs11558538TT had an earlier age at onset, but this finding was based on three subjects only. These results suggest a lack of major association between HNMT rs11558538 SNP and the risk for RLS.	Restless Legs Syndrome	Genome
1544	27843998	9606	Blood	DSM-IV-TR	Case-control based	Genotyping	Genotyping	The AG (OR=14.3, 95% CI: 4.16-49.4, P<0.001) and AA genotypes (OR=54.2, 95% CI: 15.3-191, P<0.001) significantly associated with the risk of BPD. The risk of SCZ (x2=37.4, P<0.001) and BPD (x2=66.2, P<0.001) significantly increased as a function of numbers of the A allele. The present study revealed that this polymorphism associated with risks of SCZ, and BPD.	Schizophrenia	Genome
1545	27843998	9606	Blood	DSM-IV-TR	Case-control based	Sequenom MassARRAY	MassARRAY	The risk of SCZ (2=37.4, P<0.001) and BPD (2=66.2, P<0.001) significantly increased as a function of numbers of the A allele.	Schizophrenia	Genome
1546	27847927	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	No association of these polymorphisms with schizophrenia was found in Polish population.	Schizophrenia	Genome
1547	27864917	9606	Blood//Saliva	NA	Case-control based	Hi-Seq 1000	SNP-array	The rs768049399 variant allele was detected in one case with BD and in one control (Table 2). The rs754333774 variant allele was detected in three cases with BD, two cases with SCZ, and no controls (Table 2).	Schizophrenia	Genome
1548	27866211	9606	Blood	ICD-10	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Table 1. Distribution of genotypes and alleles of the studied single-nucleotide polymorphism and the risk of recurrent depressiondisorder.	Recurrent Depressive Disorder	Genome
1549	27869829	9606	Blood		Case-control based	SNP-array//Meta-analysis	SNP-array//Meta-analysis	Table 1 Significant CNV loci from gene-based association test	Schizophrenia	Genome
1550	27869829	9606	Blood	NA	Case-control based	Array//Meta-analysis	SNP-array//Meta-analysis	Table 1 Significant CNV loci from gene-based association test	Schizophrenia	Genome
1551	27878726	9606	Blood	DSM-IIIR	Case-control based	NA	qRT-PCR	Carriers of the G allele at rs2794521 in the CRP gene tended to have a higher total SPQ-74 score compared to the AA genotype group (Table 1) and showed significantly higher scores on the Interpersonal factor,its Constricted affect scale, and Odd behavior scales from the Disorganized factor.	Schizotypal Personality Disorder	Genome
1552	27878726	9606	Blood//Buccal swabs	DSM-IIIR	Case-control based	NA	qPCR	CRP -717A>G and TNF<U+00CE>± -308 G>A polymorphisms were genotyped. Carriers of low-active allele G of the CRP gene differed from subjects with genotype AA by a trend toward more manifest schizotypal traits in general and scores on the Interpersonal factor, which corresponds to negative syndrome in schizophrenia, and Constricted affect and Odd behavior scales.	Schizotypal Personality Disorder	Genome
1553	27878726	9606	Blood	DSM-IIIR	Case-control based	NA	qRT-PCR	Genotypes for locus rs1800629 TNF<U+00CE>± were determined for 221 subjects. The frequency of the minor allele A was 0.12, of genotype GG - 0.76 (N=168), GA- 0.235 (N=52), AA - 0.005 (N=1).	Schizotypal Personality Disorder	Genome
1554	27879657	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	Table 1. Genotype and allele frequencies of molecular variants of the TBX1 gene in patients with schizophrenia (SZ) and control subjects (Ctrl).	Schizophrenia	Genome
1555	27888397	9606	Blood	DSM-5	Case report	PCR-RFLP	PCR-RFLP	We observed robust association of the rs3746544 SNP and ASD patients, in both allele and haplotype-based analyses.	Autism Spectrum Disorder	Genome
1556	27890468	9606	Blood	DSM-IV	Case-control based	SNP array//Meta-analysis	SNP-array//Meta-analysis	The meta-analysis between the full BPD sample identified two genome-wide significant (prs7089973=2.47<U+00C3>—10-8; prs11756438=4.36<U+00C3>—10-8) regions located on chromosomes 6 (CEP85L) and 10 (TAF9BP2). (Table 2. Association results showing effect size and p for genome-wide significant loci by disorder for the primary and restricted meta-analyses.)	Bipolar Disorder	Genome
1557	27890468	9606	Blood	NA	Case-control based	PCR//Meta-analysis	PCR//Meta-analysis	Table 2. Association results showing effect size and p for genome-wide significant loci by disorder for the primary and restricted meta-analyses.	Bipolar Disorder	Genome
1558	27890662	9606	Blood	NA	Case-control based	NA	SNP-array	Table 2. Meta-analysis of the association of CSMD1 and CSMD2 SNPs with immediate episodic memory and delayed episodic memory.	Schizophrenia	Genome
1559	27897266	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	As shown in Table 2, two SNPs (rs878567 and rs6295) in the HTR1A and two SNPs (rs1800883 and rs6320) in the HTR5A were associated with SCZ (allelic P-value=0.001541, 0.018648, 0.000264 and 0.017216, respectively).	Schizophrenia	Genome
1560	27909011	9606	Buccal swabs	NA	Case-control based	Microarray	Microarray	Nine of the seventy-five SNPs were nominally significant (P<0.05) in the predicted direction. These 9 SNPs and 14 other SNPs showing low versus high allele frequency differences in the predicted direction were genotyped in the rest of the second sample to test the QTL hypothesis.	Developmental Dyslexia	Genome
1561	27918536	9606	Blood	DSM-IV	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	We identified six genetic loci, including five novel loci, significantly associated with personality traits in a meta-analysis of genome-wide association studies (N = 123,132-260,861). Of these genome-wide significant loci, extraversion was associated with variants in WSCD2 and near PCDH15, and neuroticism with variants on chromosome 8p23.1 and in L3MBTL2. We performed a principal component analysis to extract major dimensions underlying genetic variations among five personality traits and six psychiatric disorders (N = 5,422-18,759).	Attention-Deficit/Hyperactivity Disorder	Genome
1562	27918536	9606	Blood	DSM-IV	Case-control based	Illumina HumanHap550+ BeadChip//Illumina OmniExpress+ BeadChip//Affymetrix	SNP-array	Supplementary Table 1. The eQTL results for the significant SNPs	Attention-Deficit/Hyperactivity Disorder	Genome
1563	27920536	9606	Blood	NA	Case-control based	Affymetrix AFFY 6.0 platform	SNP-array	Three classification-based data mining approaches, random forests, Bayes, and k-nearest neighbors, have prioritized similar SNP profiles as predictors of bipolar disorders, in contrast to MDR, which has found different SNPs through analysis of two-way and three-way interactions. (Table 2 Single-nucleotide polymorphisms identified in the genome-based model for RF, kNN, and NB methods)	Bipolar Disorder	Genome
1564	27920664	9606	Blood	DSM-IV	Case-control based	Affymetrix CytoScanHD array//Meta-analysis	SNP-array	In this study we attempted to replicate the association of rs2060546 with GTS by genotyping a Danish cohort of 240 GTS patients and 1006 healthy controls. Our results did not reveal an association (OR=1.363; p-value=0.3329) in the Danish cohort alone, which may be due to the small sample size. However, a meta-analysis including the present cohort and a total of 1316 GTS patients and 5023 controls from the GTS GWAS Replication Initiative (GGRI) and the first GTS-GWAS yielded a significant signal (OR=3.74; p-value=0.00018) and same direction of effect in the three cohorts.	Tourette's Disorder	Genome
1565	27928246	9606	Blood	DSM-IV-TR	Case-control based	NA	PCR-RFLP	Our results supported the association between rs2439272 in NRG1 gene and risk of schizophrenia and its negative symptoms in an Iranian population.	Schizophrenia	Genome
1566	27940106	9606	Blood	DSM-IV	Case-control based	Sanger sequencing	Sanger sequencing	The results showed that rs12526133 present in LINC01108 was strongly associated with MDD (<U+00CF><U+2021>2=11.68, P=6.3E-04), and LINC01108 expression was significantly higher in the patient group than in the control group (FC=1.90, P=0.001).	Major Depressive Disorder	Genome
1567	27988352	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	After sequencing all orexin receptor exons, one variation (rs2271933) in the OX1R gene and one variation (rs2653349) in the OX2R gene were found.	Insomnia Disorder	Genome
1568	27994504	9606	Blood	DSM-IV	Case-control based	Taqman allelic discrimination assays	TaqMan	Table 1. Genotype and allele frequency of BDNF (rs6264), GNB3 (rs5443), MTHFR (rs1801133), and ACE In/Del polymorphisms in major and recurrent depression.	Major Depressive Disorder	Genome
1569	27996024	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	However, markers D13S162 and rs2323266 are not located within the same LD block. Thus, in our sample, the finding in this chromosomal region seemed to be specific for acrophobia.	Anxiety Disorder	Genome
1570	28003435	9606	Brain(Cerebellum//Cerebral Cortex//Basal ganglia)	Others	Case-control based	GWAS//ES//Illumina HumanOmniExpress-12 BeadChip	GWAS//ES//Illumina HumanOmniExpress-12 BeadChip	In addition to known risk alleles in 349 brains (23.9% of 1461 undergoing exome sequencing), we saw an association between rare variants in GRN and DLB.	Neurocognitive Disorder With Lewy Bodies	Genome
1571	28030616	9606	Blood	ICD-10	Family Based	aCGH	aCGH	Table 2 Burden of putative rare and large (>100 Kb) CNVs in schizophrenia-associated loci, with comparison to four previously published control sets.	Schizophrenia	Genome
1572	28030616	9606	Blood	ICD-10	Family Based	aCGH	aCGH	Table 2 Burden of putative rare and large (>100 Kb) CNVs in schizophrenia-associated loci, with comparison to four previously published control sets.	Schizophrenia	Genome
1573	28030643	9606	Blood	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Our primary analysis focused on 481 variants within or near FKBP5 (S3 Table), and five of them were differentially represented among suicide attempters and non-attempters at a nominally significant level (Table 1).	Bipolar Disorder	Genome
1574	28049566	9606	Blood	DSM-IV	Case-control based	NA	qPCR	Table 1. Meta-analysis results of the PGC MDD GWAMA and the CHARGE depressive symptoms GWAMA(discovery)	Depressive Disorder	Genome
1575	28063323	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	In schizophrenics, the heterozygous genotypes of rs72815526 (C/A) were correlated with increased 5hmC levels whereas the heterozygous genotypes of rs3811997 (C/T) were correlated with decreased 5mC levels.	Schizophrenia	Genome
1576	28070124	9606	Blood	DSM-IV	Case-control based	Illumina 2.5M array	SNP-array	Ten correlated single-nucleotide polymorphisms (SNPs) (r2>0.9) located in an intergenic region on chromosome 3q26 were associated with fast beta EEG power at P<5<U+00C3>—10-8. (Table 2. Summary of association results with P<5<U+00C3>—10 - 8 for fast beta EEG in COGA AA families)	Alcohol Use Disorder	Genome
1577	28072414	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	When these eight loci were tested for association with BD subtypes in the ICCBD cohort, the threshold for nominal significance (P<0.05) was surpassed for all loci in BD I, four loci in BD II and two loci in SAB (Supplementary Table 6).	Bipolar Disorder	Genome
1578	28073605	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	These results warrant further investigations to replicate the association of GABRA1 and GPHN with schizophrenia and to discern the precise mechanisms of disease pathophysiology.(Table 2 SNPs in the GABAergic genes showing significant association with schizophrenia)	Schizophrenia	Genome
1579	28083609	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	Our results might support theory that polymorphisms of interleukin 1 complex genes (rs1143627, rs16944, rs1143623, rs4848306 in IL1B gene and rs4251961, rs419598, rs315952, rs9005 in IL1RN gene) are involved in the pathogenesis of schizophrenia, however, none of the results reach significance level after correction for multiple testing.(Table 2 Description of polymorphisms analyzed in this study)	Schizophrenia	Genome
1580	28083609	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	Our results might support theory that polymorphisms of interleukin 1 complex genes (rs1143627, rs16944, rs1143623, rs4848306 in IL1B gene and rs4251961, rs419598, rs315952, rs9005 in IL1RN gene) are involved in the pathogenesis of schizophrenia, however, none of the results reach significance level after correction for multiple testing.(Table 3 Association of IL1 gene complex (IL1A, IL1B, IL1RN) polymorphisms with schizophrenia in Polish population)	Schizophrenia	Genome
1581	28094822	9606	Blood	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	There was signifcant difference between the MTR polymorphism distribution in control and patient groups.The prevalence of allele frequencies of A and G in autistic children were 0.69 and 0.31, respectively and in controls were 0.78 and 0.22, respectively (P=0.03). The MTR G allele conferred a 1.6-fold increased risk to autism relative to the A allele (95% CI=1.06-2.41, P=0.02).	Autism Spectrum Disorder	Genome
1582	28115744	9606	Blood	DSM-IV-TR	Case-control based	Illumina HumanOmniExpressExome v.1.0/v.1.2 BeadChips	WES	Table 1. Summary of the association results in the Japanese BD samples	Bipolar Disorder	Genome
1583	28115744	9606	Blood	DSM-IV-TR	Case-control based	Illumina HumanOmniExpressExome v.1.0/v.1.2 BeadChips	SNP-array	Table 2. Summary of the meta-analysis combining the Japanese BD samples and PGC-BD datasets (Po1<U+00C3>—10 - 7)	Bipolar Disorder	Genome
1584	28115744	9606	Blood	DSM-IV-TR	Case-control based	Illumina HumanOmniExpressExome v.1.0/v.1.2 BeadChips	WES	For example, 68 SNPs showed P<5<U+00C3>—10 - 7 in the 11q12.2 region in addition to rs28456. Full results (P<5<U+00C3>—10 - 7) can be seen in Supplementary Table 2.	Bipolar Disorder	Genome
1585	28115744	9606	Blood	DSM-IV-TR	Case-control based	Illumina HumanOmniExpressExome v.1.0/v.1.2 BeadChips	SNP-array	For example, 68 SNPs showed P<5<U+00C3>—10 - 7 in the 11q12.2 region in addition to rs28456. Full results (P<5<U+00C3>—10 - 7) can be seen in Supplementary Table 2.	Bipolar Disorder	Genome
1586	28118382	9606	Blood	DSM-5	Case-control based	aCGH	aCGH	This study shows the importance of using an integrative approach to explore genotype-phenotype variability. (S2 Table. List of de novo CNVs found with 180K aCGH in the siblings)	Autism Spectrum Disorder	Genome
1587	28118382	9606	Blood	DSM-5	Case-control based	aCGH	aCGH	This study shows the importance of using an integrative approach to explore genotype-phenotype variability. (S2 Table. List of de novo CNVs found with 180K aCGH in the siblings)	Autism Spectrum Disorder	Genome
1588	28144920	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	A recent study on Japanese subjects found a genetic variant within the encoding gene SIGMAR1 (rs1800866A>C) associated with major depressive disorder (MDD). We aimed to evaluate the same polymorphism in both MDD and bipolar disorder (BD) as well as its relationship to response to treatment with antidepressants and mood stabilizers.	Bipolar Disorder	Genome
1589	28153336	9606	Blood	DSM-IV	Case-control based	NA	Meta-analysis	Table 1 Single-SNP-Based Association Test Results for Five MDD-Associated SNPs in Discovery and Replication Samples	Major Depressive Disorder	Genome
1590	28166306	9606	Blood	DSM-IV//DSM-IIR	Case-control based	NA	Meta-analysis	Table 1 Schizophrenia-associated SNPs with a p-value of <0.05 in our bipolar disorder GWAS data after correction for sample overlap.	Schizophrenia	Genome
1591	28166306	9606	Blood	DSM-IV//DSM-IIR	Case-control based	WES	WES	Table 1 Schizophrenia-associated SNPs with a p-value of <0.05 in our bipolar disorder GWAS data after correction for sample overlap.	Schizophrenia	Genome
1592	28194006	9606	Blood	NA	Case-control based	NA	PCR	The other significant association, rs116323614 in SESTD1, changed from P=2.74<U+00C3>—10-8 (OR=3.14) to 1.53<U+00C3>—10 - 6 (OR=2.69).	Bipolar Disorder	Genome
1593	28194006	9606	Blood	NA	Case-control based	NA	PCR	The former top hit, rs146727601, had a P-value of 1.33<U+00C3>—10 - 8 (OR=3.98), but changed to 1.22<U+00C3>—10 - 9 (OR=4.12) in the revised analyses.	Bipolar Disorder	Genome
1594	28195573	9606	Blood	ICD-10	Case-control based	Illumina HiSeq2500//Sequenom MassARRAY	MassARRAY	The NOS1 missense variant was the only variant showing significant association withstanding Bonferroni correction (P=0.002, Pcorrected=0.032; Table 1).	Bipolar Disorder	Genome
1595	28218896	9606	Blood	NA	Case-control based	Genotyping//ELISA//RT-PCR//Luciferase assay//Western blot	Genotyping//ELISA//RT-PCR//Rrporter assay//Western blottingting	We divided all the participants into 4 groups by rs2910164 genotype: GG, GC, CC, and GC/CC, and logistic regression test was used to analyze the SNP type, and found that rs2910164 polymorphism was significantly associated with the risk of ED (95% CI 0.52-0.79, OR 0.61, P<0.001).	Erectile Disorder	Genome
1596	28224622	9606	Blood//cell lines (LCLs)	DSM-IV	Case-control based	Sequenom iPlex//aCGH//RT-PCR//Meta-analysis	Sequenom iPlex//aCGH//RT-PCR//Meta-analysis	Case-control association analyses of SLC2A3 single-nucleotide polymorphisms (SNPs) and CNVs were conducted in several European cohorts of patients with childhood and adult ADHD (SNP, n = 1,886 vs. 1,988; CNV, n = 1,692 vs. 1,721). These studies were complemented by SLC2A3 expression analyses in peripheral cells, functional EEG recordings during neurocognitive tasks, and ratings of food energy content.	Attention-Deficit/Hyperactivity Disorder	Genome
1597	28224622	9606	Blood	DSM-IV	Case-control based	NA	RT-PCR	When all samples were subjected to meta-analysis, rs12842 remained to be significantwith ap=.002 corresponding to anORof 1.27 (95% CI 1.09-1.47; Figure 1A).	Attention-Deficit/Hyperactivity Disorder	Genome
1598	28224622	9606	Blood	NA	Case-control based	aCGH	aCGH	Meta-analysis of all cohorts detected an association of SNP rs12842 with ADHD. While CNV analysis detected a population-specific enrichment of SLC2A3 duplications only in German ADHD patients, the CNV + rs12842 haplotype influenced ADHD risk in both the German and Spanish cohorts. Duplication carriers displayed elevated SLC2A3 mRNA expression in peripheral blood cells and altered event-related potentials reflecting deficits in working memory and cognitive response control, both endophenotypic traits of ADHD, and an underestimation of energy units of high-caloric food.	Attention-Deficit/Hyperactivity Disorder	Genome
1599	28224735	9606	Blood	NA	Case-control based	Illumina OmniExpress + Exome array	SNP-array	This first GWAS of social anxiety confirms a genetic basis for social anxiety, shared with extraversion but possibly less so with neuroticism.(Table 3 NSS1, NSS2 and PPDS GWAS Meta-analysis Results at p<10-6)	Social Anxiety Disorder	Genome
1600	28225367	9606	Blood	ICD-10	Case-control based	Sequenom MassARRAY	MassARRAY	We investigated the association between the seven SNPs and bipolar disorder, but found no association (Table 1).//However, we observed that the mean serum progranulin level in cases and controls is affected differently depending on the genotypes of two SNPs within GRN (rs2879096 and rs4792938).	Bipolar Disorder	Genome
1601	28225484	9606	Blood	NA	Case-control based	NA	Genotyping//Meta-analysis	Meta-analyses showed that rs707284 is statistically significantly associated with schizophrenia susceptibility among Asian and Caucasian populations under the allelic model (OR=0.91, 95% CI: 0.83-0.99, P=0.035).	Schizophrenia	Genome
1602	28225484	9606	Blood	NA	Case-control based	NA	Genotyping//Meta-analysis	However, no statistically significant association was found between rs839523, rs7598440, rs3748962, and rs2371276 and schizophrenia risk.	Schizophrenia	Genome
1603	28225778	9606	Blood	DSM-IV	Case-control based	TaqMan 5a€2 nuclease assay	TaqMan	Individuals carrying the T- allele of rs5443 (CC), A- allele of rs2253206 (GG), Tallele of rs2551941 (AA), C- allele of rs6740584 (TT) or G- allele of rs11904814 (TT) conferred susceptibility to MD in subjects only exposed to high-negative life events.	Major Depressive Disorder	Genome
1604	28233563	9606	Blood	DSM-IIIR//ICD-10	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	We found that the T-allele of rs10936599 predicted increased risk for childhood-onset MDD relative to controls (pa‰¤0.05), and increased risk for childhood-onset MDD relative to adult-onset MDD cases (pa‰¤0.001), but rs10936599 did not predict adultonset MDD risk.	Major Depressive Disorder	Genome
1605	28234206	9606	Blood//Saliva	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	A signifcant association was observed between rs4660531 (FOXO6) genotype and SANS scores (Cohen d=0.46, F=5.854, p=0.017), indicating that participants with the CC genotype (n=72) presented signifcantly higher negative symptoms than carriers of the risk allele A (n=61; Fig. 1).	Schizophrenia	Genome
1606	28234206	9606	Blood//Saliva	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Table 1: Single-nucleotide polymorphisms included in the analysis, and results of analysis of covariance with Scale for the Assessment of Negative Symptoms scores	Schizophrenia	Genome
1607	28242106	9606	Blood	DSM-IV	Case-control based	NA	WES	Based on this strategy, we identified a heterozygous rare missense variant rs367888752 (NC_000006.11:g.132966598CNA; NM_138327.2:c.545GNT; NP_612200.1:p.Cys182Phe) in Trace amine associated receptor (TAAR1). The variant was present in the affected mother and two affected children but not in two unaffected siblings as confirmed by Sanger sequencing (primer details in Supplementary Table 1; Supplementary Fig. 1).	Schizophrenia	Genome
1608	28242106	9606	Blood	DSM-IV	Case-control based	NA	WES	Conversely, three common coding SNPs (rs8192621, rs8192620 and rs8192619) and a promoter SNP (rs60266355) tested for association with SZ in the north Indian cohort were not significant (P<0.05).	Schizophrenia	Genome
1609	28242106	9606	Blood	DSM-IV	Case-control based	NA	WES	On screening this intronless gene for additional variant(s) in ~800 sporadic SZ patients, we identified six rare protein altering variants (MAF b 0.001) namely p.Ser47Cys, p.Phe51Leu, p.Tyr294Ter,p.Leu295Ser in four unrelated north Indian cases (n=475); p.Ala109Thr and p.Val250Ala in two independent Caucasian/African-American patients (n=310).	Schizophrenia	Genome
1610	28262088	9606	Blood	NA	Case-control based	Affymetrix Axiom 2.0 Assay	SNP-array	TABLE 2 Suggestively Significant Hits for PTSD in the Mexican American Sample	Posttraumatic Stress Disorder	Genome
1611	28262136	9606	Blood	DSM-5	Case-control based	SNP Array	SNP-array	Moreover, the rs8042149 genotype x trauma exposure interaction was only associated with severity of the negative affect, anhedonia and dysphoric arousal symptoms in males.	Posttraumatic Stress Disorder	Genome
1612	28263302	9606	Blood//Cell lines(LCLs)		Case-control based	aCGH//WGS//Microarray	aCGH//WGS//Microarray	Among these 61 ASD-risk genes with sequence-level mutations, 18 had not previously been reported in the literature (CIC, CNOT3, DIP2C, MED13, PAX5, PHF3, SMARCC2, SRSF11, UBN2, DYNC1H1, AGAP2, ADCY3, CLASP1, MYO5A, TAF6, PCDH11X, KIAA2022, and FAM47A).	Autism Spectrum Disorder	Genome
1613	28263302	9606	Blood//Cell lines(LCLs)	DSM-IV//ADOS	Case-control based	Illumina HiSeq X platform	WGS//Meta-analysis	Figure 3 ASD-susceptibility genes and loci.	Autism Spectrum Disorder	Genome
1614	28263302	9606	Blood//Cell lines(LCLs)	DSM-IV//ADOS	Case-control based	Illumina HiSeq X platform	WGS//Meta-analysis	Among these 61 ASD-risk genes with sequence-level mutations, 18 had not previously been reported in the literature (CIC, CNOT3,DIP2C, MED13, PAX5, PHF3, SMARCC2, SRSF11, UBN2, DYNC1H1,AGAP2, ADCY3, CLASP1, MYO5A, TAF6, PCDH11X, KIAA2022 and FAM47A).	Autism Spectrum Disorder	Genome
1615	28263302	9606	Blood//Cell lines(LCLs)	NA	Case-control based	Complete Genomics//Illumina HiSeq 2000//HiSeq X//Illumina 1M//Affymetrix CytoScan HD//Affymetrix single-nucleotide polymorphism 6.0//Illumina OMNI 2.5M//Agilent 1M CGH array//Affymetrix GeneChip Human Mapping 500K Array	aCGH//WGS//Microarray	Among these 61 ASD-risk genes with sequence-level mutations, 18 had not previously been reported in the literature (CIC, CNOT3, DIP2C, MED13, PAX5, PHF3, SMARCC2, SRSF11, UBN2, DYNC1H1, AGAP2, ADCY3, CLASP1, MYO5A, TAF6, PCDH11X, KIAA2022, and FAM47A).	Autism Spectrum Disorder	Genome
1616	28272115	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Our results provide further evidence for an involvement of the serotonin transporter gene SLC6A4 in the etiology of anxiety-related traits. (Table 2 Results of the association analysis)	Anxiety Disorder	Genome
1617	28273278	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	Although rs165599 was not associated with any of the cognitive variables, considering the interaction genotype* group, there was a significant difference  (Table 3 and Figure 1), with AA carriers performing worse in the control group and GG carriers performing worse in the patient group for both the VWM and Keep Track tasks.	Schizophrenia	Genome
1618	28273278	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	We found a significant association between COMT rs737865 genotypes and schizophrenia (p=0.017)	Schizophrenia	Genome
1619	28273404	9606	Blood	NA	Case-control based	NA	qPCR	A significantly higher frequency of all rs893051 SNP genotypes (GC and CC) was found in the VaD population(OR=4.8, p=0.006 and OR=6, P<0.001 respectively).	Vascular Neurocognitive Disorder	Genome
1620	28276850	9606	Blood	NA	Case-control based	Genotyping	Genotyping	In conclusion, we report that both alleles of the PER3 VNTR are transcribed. In support of earlier studies, our analyses suggest but do not conclusively prove that Per3 is associated with a range of sleep and circadian characteristics.	Insomnia Disorder	Genome
1621	28281572	9606	Blood	DSM-IV-TR	Case-control based	SNP-array	SNP-array	Recurrent de novo or case-private CNVs were found at 15q11-13, Xp22.3, 15q13.1-13.2, 3p26.3 and 2p12. The de novo 15q11-13 duplication was more prevalent in this Chinese population than in those with European ancestry. 	Autism Spectrum Disorder	Genome
1622	28281572	9606	Blood	DSM-IV-TR	Case-control based	Illumina Human660W-Quad BeadChip	SNP-array	Recurrent de novo or case-private CNVs were found at 15q11-13, Xp22.3, 15q13.1-13.2, 3p26.3 and 2p12. The de novo 15q11-13 duplication was more prevalent in this Chinese population than in those with European ancestry.	Autism Spectrum Disorder	Genome
1623	28284355	9606	Blood	DSM-IV-TR	Case-control based	TaqMan Genotyping Assay	TaqMan	The smoking risk in bipolar TLR4 rs11536889 C carriers was also superior to that of the rs11536889 G carriers (p=0.042; X2=4.12, df=1, OR=1.48 [1.03-2.14]) (Table 2). However, after correction for multiple tests, only the rs10759932 SNP allelic association remained significant (pcorrected=0.04).	Tobacco Use Disorder	Genome
1624	28284355	9606	Blood	DSM-IV-TR	Case-control based	TaqMan Genotyping Assay	TaqMan	Significant association between tobacco smoking and rs10759932 was found (genotype, Cochrane Armitage trend test, p=0.008, pcorrected=0.040 and alleles, p=0.008; pcorrected=0.040), where the C minor allele is associated with a protective effect, even after adjusting for confounding factors (OR=1.54 [1.04-2.30], p=0.03).	Tobacco Use Disorder	Genome
1625	28289475	9606	Blood	ADI-R//ASDS	Case-control based	Array	SNP-array	Although targeted association did not find evidence of association with any SNP overall, in one family with the strongest evidence of linkage, there was evidence for association (rs17586672, p=1.72E-07).	Autism Spectrum Disorder	Genome
1626	28293111	9606	Blood	DSM-IV	Case-control based	SNaPshot	SNaPshot	There was a significant difference in allelic distribution of SNP rs1061170 (Y402H) between the case and control groups (P=0.03). However, this significance did not remain after correcting for multiple testing (P=0.30, after Bonferroni correction).	Schizophrenia	Genome
1627	28293481	9606	Saliva	DSM-IV	Case-control based	Genotyping//PCR	Genotyping//PCR	We initially tested whether rs17268988 genotype was associated with attention, response control, and underlying aspects of cognition, using questionnaires and neuropsychological tasks, in two independent cohorts of healthy adult males. In an additional analysis based upon existing data, the performance of mice with genetic or pharmacological manipulations of the STS axis under attentionally demanding conditions was investigated.	Attention-Deficit/Hyperactivity Disorder	Genome
1628	28293481	9606	Saliva	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Our findings provide additional support for an association between rs17268988 genotype and attention, which may be partially mediated by reaction time variability; they also indicate that, in contrast to the situation in boys with ADHD, in healthy men, the G-allele at rs17268988 is associated with enhanced cognition.	Attention-Deficit/Hyperactivity Disorder	Genome
1629	28329290	9606	Blood	DSM-IV	Case-control based	TaqMan assay//Meta Analysis	TaqMan//Meta-analysis	Table 2a€”Association of SNPs of Candidate Genes and OR to RLS Risk.	Restless Legs Syndrome	Genome
1630	28329290	9606	Blood	DSM-IV	Case-control based	TaqMan assay//Meta Analysis	TaqMan//Meta-analysis	Our study found that one SNP increased the risk of RLS in Chinese population: rs6494696 of MAP2K5/SKOR1 (odds ratio [OR]=0.09, p<.0001, recessive model). A further meta-analysis of RLS in Asian population found that two SNPs of BTBD9 increased the risk of RLS: rs9296249 of BTBD9 (OR=1.44, p=.000, T allele), rs9357271 of BTBD9 (OR=1.38, p=.021, dominant model).	Restless Legs Syndrome	Genome
1631	28332369	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	As a result, these two genetic variants (rs910122 and rs2821) and a haplotype (ht3) showed signifcant associations with schizophrenia in male subjects (pcorr=0.02; OR=0.64), whereas the signifcance disappeared in female subjects (p>0.05).	Schizophrenia	Genome
1632	28332719	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	To the best of our knowledge, this is the first genetic association study of the relationship between the rs7968606 SNP of ANKS1B and the response of schizophrenia patients to treatment with amisulpride.	Schizophrenia	Genome
1633	28342337	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Subjects with the TPH2 rs4570625 TT genotype, especially males, exhibit less aggression and a favourable impulsivity profile, and develop anxiety disorders by young adulthood less often.	Anxiety Disorder	Genome
1634	28364978	9606	Blood	IIEF-5	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The results showed that diabetes mellitus (odds ratio [OR]=3.27, P<.01), hypertension (OR=3.47, P<.01), and having the VEGF 2578A allele (OR=1.54, P=.01) were the three most independent risk factors for ED.	Erectile Disorder	Genome
1635	28367959	9606	Buccal cell	DSM-IV//SNAP-IV	Case-control based	ELISA//TaqMan	ELISA//TaqMan	Our results reveal that rs2270112 within the STS gene was over-transmitted in Han Chinese boys with ADHD. Polymorphisms of rs182420 within the SULT2A1 gene were not associated with ADHD. Since the C allele of rs2270112 within the STS gene was over-transmitted in males with ADHD, we explored whether rs2270112 polymorphisms influence STS gene function, reflected by patients’ nerurosteroids levels. Among boys with ADHD, the C allele carriers of rs2270112 had significantly higher DHEA-S levels than the G allele carriers. In addition, we found that the salivary levels of DHEA were correlated with several neuropsychological indices measured by the CPT.	Attention-Deficit/Hyperactivity Disorder	Genome
1636	28367959	9606	Buccal swabs	DSM-IV//SNAP-IV	Case-control based	TaqMan Assay	TaqMan	Our results reveal that rs2270112 within the STS gene was over-transmitted in Han Chinese boys with ADHD. Polymorphisms of rs182420 within the SULT2A1 gene were not associated with ADHD.	Attention-Deficit/Hyperactivity Disorder	Genome
1637	28367959	9606	Buccal swabs	DSM-IV//SNAP-IV	Case-control based	TaqMan Assay	TaqMan	Table 2 Transmission disequilibrium test for polymorphisms of the STS gene and the SULT2A1 gene among boys with ADHD and their parents.	Attention-Deficit/Hyperactivity Disorder	Genome
1638	28368970	9606	Blood		Case-control based	aCGH	aCGH	Table 2 Genomic coordinates for the 40 regions containing large (>1 Mbp) copy number variants in anorexia nervosa cases	Anorexia Nervosa	Genome
1639	28368970	9606	Blood	NA	Case-control based	aCGH	aCGH	Table 2 Genomic coordinates for the 40 regions containing large (>1 Mbp) copy number variants in anorexia nervosa cases	Anorexia Nervosa	Genome
1640	28384043	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	There was no association between the risk of SZ and rs707284.	Schizophrenia	Genome
1641	28384043	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	A significant association was observed between the rs490460 T allele and SZ ( p=0.0002, odds ratio 0.69, 95% confidence interval 0.57-0.84).	Schizophrenia	Genome
1642	28386217	9606	Blood	DSM-IV	Case-control based	NA	Genotyping//Meta-analysis	Table 1 Top SNPs from the meta-analysis.	Obsessive Compulsive Disorder	Genome
1643	28386217	9606	Blood	DSM-IV	Case-control based	NA	Genotyping//Meta-analysis	Table 1 Top SNPs from the meta-analysis.	Attention-Deficit/Hyperactivity Disorder	Genome
1644	28386217	9606	Blood	DSM-IV	Case-control based	Illuminaa€<U+2122>s HumanOmniExpress bead chips//Meta-analysis	SNP-array//Meta-analysis	Table 1 Top SNPs from the meta-analysis.	Attention-Deficit/Hyperactivity Disorder	Genome
1645	28389239	9606	Blood	DSM-IV-TR	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	The marker rs12807809 in NRGN shows an association with SCZ in this study population. Allele(p=0.0019) and genotypic frequencies (p=0.0062) of rs12807809 showed significant differences between the cases and control.	Schizophrenia	Genome
1646	28397836	9606	Blood	NA	Case-control based	Illumina HumanHap610 Genotyping BeadChip	SNP-array	These findings were confirmed in a human sample where we observed a positive association of the EFhd2 single-nucleotide polymorphism rs112146896 with lifetime drinking and a negative association with anxiety in healthy adolescents.	Alcohol Use Disorder	Genome
1647	28404897	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Table 3: Allele frequencies in cases and controls and odds ratio estimates for SCZ	Schizophrenia	Genome
1648	28404897	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	We observed that the allele A of rs12573128 is associated with an increased SCZ risk (odds ratio [OR]=1.33, 95% confdence interval [CI]: 1.08-1.63,P=0.006, adjusted P=0.030).	Schizophrenia	Genome
1649	28407444	9606	Blood	ADI-R//ADOS	Case report	Microarray	Microarray	Microarray analysis performed on the familial trio revealed in the propositus and in her affected mother an interstitial microdeletion of about 275 kb in the chromosome 18q12.2 (arr 18q12.2(34,685,037-34,959,618)脙鈥	Autism Spectrum Disorder	Genome
1650	28407444	9606	Blood	ADI-R//ADOS	Case report	Microarray	Microarray	Microarray analysis performed on the familial trio revealed in the propositus and in her affected mother an interstitial microdeletion of about 275 kb in the chromosome 18q12.2 (arr 18q12.2(34,685,037-34,959,618)<U+00C3>—1) (Figure 2A) .	Autism Spectrum Disorder	Genome
1651	28413702	9606	Blood	NA	Case-control based	Illumina HiSeq2000	SNP-array	Our findings indicated significant association between FMO genes and nicotine dependence. (TABLE 2 Signifcant signals in variant-wise associaton analysis)	Tobacco Use Disorder	Genome
1652	28413930	9606	Blood//Buccal swabs	NA	Family based	TaqMan SNP Genotyping Assay	TaqMan	Table 3.Significant and Suggestive Results of Family-Based Genetic Association Test.	Anxiety Disorder	Genome
1653	28413930	9606	Blood//Buccal swabs	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Table 2. Suggestive Results of Child-Only Regression Analysis (p<.05)	Anxiety Disorder	Genome
1654	28419454	10090	Cell lines(HeLa//HEK293)	NA	Case-control based	NA	qPCR	We find that the R2290C mutation, which arose de novo in an affected ASD proband, and other analogous mutations in RXR domains reduce protein secretion.	Autism Spectrum Disorder	Genome
1655	28447399	9606	Blood	NA	Case-control based	Affymetrix Human SNP Array 6.0	SNP-array	Table 4 Most significant SNPs associated with GDS.	Neurocognitive Disorder Due to HIV	Genome
1656	28447399	9606	Blood	NA	Case-control based	Affymetrix Human SNP Array 6.0	SNP-array	Table 5 Significant SNPs in iron genes associated with GDS.	Neurocognitive Disorder Due to HIV	Genome
1657	28447399	9606	Blood	NA	Case-control based	Affymetrix Human SNP Array 6.0	SNP-array	Table 6 Association results for SNPs identified in previous studies.	Neurocognitive Disorder Due to HIV	Genome
1658	28450726	9606	Blood	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	Our results showed that C-allele carriers were associated with a higher AS, decreased GMV and FCD in the pregenual anterior cingulate cortex; children with PNE carrying the C allele exhibit decreased GMV and FCD in the thalamus; however, controls carrying the C allele exhibit increased FCD in the posterior cingulate cortex.	Enuresis	Genome
1659	28454051	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	In the haplotype analysis, rs1362621-rs2242446-rs5564 in SLC6A2 was found to significantly (global p value<0.05) associated with schizophrenia.	Schizophrenia	Genome
1660	28461137	9606	Blood	NA	Case-control based	NA	qPCR	After discarding data with extremely severe negative life events in our study population, we found an association between rs4938723, rs2187473 polymorphisms and MDD in the dominant models (TC/CC vs. TT, OR=1.45, P=0.027; TC/CC vs. TT, OR=3.32, P=0.030). In haplotype analysis, the C-G haplotype (rs4938723/rs28757623) showed the strongest association with MDD (OR=1.95, P=0.026). Additionally, we found significant gene-environment combination rs4938723 C allele, rs28757623 G allele and high level of negative life events (C-G-HN) was significantly associated with MDD (OR, 3.85; 95% CI, 1.62-9.13).	Major Depressive Disorder	Genome
1661	28461698	9606	Blood	DSM-IV	Case-control based	Affymetrix SNP array	SNP-array	Table 4a details the 20 SNPs that most consistently (as defined by the minimum of the sum of their individual SNP regression coefficients from the analysis of the Discovery and Replication Cohorts) were associated with reduced AD+P risk.	Schizophrenia	Genome
1662	28478728	9606	Blood	ADHD-RS-IV//DSM-IV-TR	Case-control based	Genotyping//RT-PCR	Genotyping//RT-PCR	We examined the association of three detected SNPs of OXTR with social cognition deficits. A significant association was shown between the children with ADHD and children with CT/TT genotypes of rs4686302 (χ2 = 3.695; p = .037). ADHD children with CT/TT genotype for the OXTR rs4686302 performed significantly lower on the facial emotion recognition task than those with CC genotype.	Attention-Deficit/Hyperactivity Disorder	Genome
1663	28478728	9606	Blood	ADHD-RS-IV//DSM-IV-TR	Case-control based	NA	RT-PCR	A significant association was shown between the children with ADHD and children with CT/TT genotypes of rs4686302 (<U+00CF><U+2021>2=3.695; p =0 .037).	Attention-Deficit/Hyperactivity Disorder	Genome
1664	28484366	9606	Blood//Buccal swabs	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	There were no significant associations between OXTR rs2254298 polymorphism and ASD, serum OT levels and age, as well as serum OT levels and intelligent quotient (IQ) in both ASD and TD groups.	Autism Spectrum Disorder	Genome
1665	28485404	9606	Blood	NA	Case-control based	Affymetrix Axiom arrays	SNP-array	Table 3 Results in our GERA cohort of SNPs previously associated with alcohol consumption and related phenotypes at genome-wide level significance (p<5<U+00C3>—10-8)//Non-Hispanic Whites	Alcohol Use Disorder	Genome
1666	28485404	9606	Blood	NA	Case-control based	Affymetrix Axiom arrays	SNP-array	Table 3 Results in our GERA cohort of SNPs previously associated with alcohol consumption and related phenotypes at genome-wide level significance (p<5<U+00C3>—10-8)//East Asians	Alcohol Use Disorder	Genome
1667	28485404	9606	Blood	NA	Case-control based	Affymetrix Axiom arrays	SNP-array	Table 3 Results in our GERA cohort of SNPs previously associated with alcohol consumption and related phenotypes at genome-wide level significance (p<5<U+00C3>—10-8)//African-Americans	Alcohol Use Disorder	Genome
1668	28494655	9606	Blood	DSM-5	Case-control based	GWAS array	SNP-array	The top SNP was rs4622308 (p=4.331029, odds ratio=1.2, SE=0.03; minor allele frequency in cases [MAFcases]=0.48, minor allele frequency in controls [MAFcontrols]=0.44). The second (rs200312312 on chromosome 5, p=6.731028), third (rs117957029 on chromosome 12,p=1.631027), and fourth (rs11174202 on chromosome 12,p=3.131027) most significant loci in our analyses also have consistent evidence for association across multiple cohorts (see Figure S6 in the data supplement for area plots of these loci). The fourth best locus is intronic in the FAM19A2 gene.	Anorexia Nervosa	Genome
1669	28495490	9606	Blood	DSM-IV	Case-control based	NA	SNP-array	We observed that rs5177 in the 3a€2 untranslated region (3a€<U+2122>UTR) of LRP8 was associated with schizophrenia and other psychiatric disorders, and rs5177 was also associated with LRP8 mRNA expression.	Schizophrenia	Genome
1670	28539120	9606	Blood		Case-control based	WGS	WGS	This study provides an extensive analysis of WGS in the context of ID, providing genetic and structural insights into ID and yielding diagnoses. (Table S7: CNV/SV/Indels Verification summary)	Intellectual Disability	Genome
1671	28539120	9606	Blood	NA	Case-control based	WGS	WGS	This study provides an extensive analysis of WGS in the context of ID, providing genetic and structural insights into ID and yielding diagnoses.(Table S7: CNV/SV/Indels Verification summary)	Intellectual Disability	Genome
1672	28539120	9606	Blood	NA	Case-control based	WGS	WGS	This study provides an extensive analysis of WGS in the context of ID, providing genetic and structural insights into ID and yielding diagnoses. (Table S7: CNV/SV/Indels Verification summary)	Intellectual Disability	Genome
1673	28544350	9606	Blood	DSM-IV	Case-control based	Array	SNP-array	Five SNPs (rs2369595, rs6755404, rs10931156, rs12476147 and rs1366842) showed a significant association with an FDR-corrected P of <.05.	Bipolar I Disorder	Genome
1674	28555406	9606	Blood	DSM-IV-TR	Family based	NA	qPCR	TS GWAS SNPs showed nominal signifcance, rs11603305 (intergenic) and rs621942 (PICALM).	Tourette's Disorder	Genome
1675	28556829	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Among the individuals carrying the C-allele of PCLO rs2522833, the volume of the left temporal pole was significantly smaller in those with MDD than in healthy controls (family-wise error-corrected, P=0.003).	Major Depressive Disorder	Genome
1676	28557556	9606	Blood	DSM-IV	Case-control based	MAssARRAY	MassARRAY	We report here polymorphic variation in 10 miRNA biogenesis pathway candidate genes, including RNASEN, DGCR8, XPO5, RAN, DICER1, TARBP2, AGO1, AGO2, GEMIN3, and GEMIN4, in a large sample from the Eastern Mediterranean region (N = 355; 191 cases and 164 controls). We found that AGO1 rs595961 was significantly associated with ADHD susceptibility (p < 0.05).	Attention-Deficit/Hyperactivity Disorder	Genome
1677	28557556	9606	Blood	DSM-IV	Case-control based	ABI 7500 Real-Time PCR	MassARRAY	We found that AGO1 rs595961 was significantly associated with ADHD susceptibility (p<0.05).	Attention-Deficit/Hyperactivity Disorder	Genome
1678	28557556	9606	Blood	DSM-IV	Case-control based	ABI 7500 Real-Time PCR	MassARRAY	Table 4. Allelic Frequency Distributions Among Attention-Deficit/Hyperactivity Disorder Case and Control Groups	Attention-Deficit/Hyperactivity Disorder	Genome
1679	28559998	9606	Blood	DSM-IV	Case-control based	Affymetrix Genome-wide Human SNP array	SNP-array	Table 3 The replication of chromosome 5 SCZ associated SNPs in the enlarged cohort of 986 SCZ patients by Affymetrix Genome-wide Human SNP Array 6.0	Major Depressive Disorder	Genome
1680	28559998	9606	Blood	DSM-IV	Case-control based	Affymetrix Genome-wide Human SNP array	SNP-array	Table 4 The analysis of CDH6, CDH9, CDH10, CDH12 and CDH18 associated SNPs in 986 schizophrenia (SCZ986) from Affymetrix Genome-wide Human SNP Array 6.0	Schizophrenia	Genome
1681	28559998	9606	Blood	DSM-IV	Case-control based	Affymetrix Genome-wide Human SNP array	SNP-array	Table 2 Associated SNPs of chromosome 5 for schizophrenia (SCZ), bipolar disorder (BPD) and major depressive disorder (MDD) from Affymetrix Genome-wide Human SNP Array 6.0 analysis in the population of Shandong province of China	Bipolar Disorder	Genome
1682	28559998	9606	Blood	DSM-IV	Case-control based	Affymetrix Genome-wide Human SNP array	SNP-array	Table 3 The replication of chromosome 5 SCZ associated SNPs in the enlarged cohort of 986 SCZ patients by Affymetrix Genome-wide Human SNP Array 6.0	Schizophrenia	Genome
1683	28559998	9606	Blood	DSM-IV	Case-control based	Affymetrix Genome-wide Human SNP array	SNP-array	Table 2 Associated SNPs of chromosome 5 for schizophrenia (SCZ), bipolar disorder (BPD) and major depressive disorder (MDD) from Affymetrix Genome-wide Human SNP Array 6.0 analysis in the population of Shandong province of China	Schizophrenia	Genome
1684	28559998	9606	Blood	DSM-IV	Case-control based	Affymetrix Genome-wide Human SNP array	SNP-array	Table 2 Associated SNPs of chromosome 5 for schizophrenia (SCZ), bipolar disorder (BPD) and major depressive disorder (MDD) from Affymetrix Genome-wide Human SNP Array 6.0 analysis in the population of Shandong province of China	Bipolar II Disorder	Genome
1685	28559998	9606	Blood	DSM-IV	Case-control based	Affymetrix Genome-wide Human SNP array	SNP-array	Table 2 Associated SNPs of chromosome 5 for schizophrenia (SCZ), bipolar disorder (BPD) and major depressive disorder (MDD) from Affymetrix Genome-wide Human SNP Array 6.0 analysis in the population of Shandong province of China	Major Depressive Disorder	Genome
1686	28589140	9606	Blood	PCL-C	Case-control based	Sequenom MassARRAY	MassARRAY	Met carriers for BDNF rs6265 are at higher risk of developing PTSD and also exhibit more severe PTSD symptoms than Val/Val homozygotes among flood survivors in China.	Posttraumatic Stress Disorder	Genome
1687	28604731	9606	Blood	NA	Family based	NA	Genotyping	Table 1 Three genome-wide significant loci associated with insomnia complaints in a full GWAS including 113,006 individuals and sex-specific GWAS	Insomnia Disorder	Genome
1688	28614354	9606	Blood	EPDS	Family based	Illumina Human Omni Express Exome 1.2//RT-PCR	Illumina Human Omni Express Exome 1.2//RT-PCR	We sought to determine the role of functional genetic variation in COMT, which encodes catechol-O-methyltransferase, in the association between maternal prenatal anxiety and child symptoms of ADHD and working memory. We used the prospectively-designed ALSPAC cohort (n = 6,969) for our primary data analyses followed by replication analyses in the PREDO cohort (n = 425). Maternal prenatal anxiety was based on self-report measures; child symptoms of ADHD were collected from 4-15 years of age; working memory was assessed from in-person testing at age 8 years; and genetic variation in COMT at rs4680 was determined in both mothers and children. The association between maternal prenatal anxiety and child attention/hyperactivity symptoms and working memory was moderated by the child's rs4680 genotype, with stronger effects obtained for the val/val (G:G) genotype relative to val/met (A:G) (all p<0.01) and met/met (A:A) groups (all p<0.05).	Attention-Deficit/Hyperactivity Disorder	Genome
1689	28614354	9606	Blood	EPDS	Family based	Taqman 7900 PCR	RT-PCR	The association between maternal prenatal anxiety and child attention/hyperactivity symptoms and working memory was moderated by the child's rs4680 genotype, with stronger effects obtained for the val/val (G:G) genotype relative to val/met (A:G) (all p<0.01) and met/met (A:A) groups (all p<0.05).	Attention-Deficit/Hyperactivity Disorder	Genome
1690	28617822	9606	Blood	DSM-IV	Case-control based	Genotyping//RT-PCR	Genotyping//RT-PCR	We have searched for regulatory variants affecting ESR1 expression in human brain, measuring allelic ESR1 mRNA expression in human brain tissues with marker SNPs in exon4 representing ESR1-008 (or ESRα-36), and in the 3'UTR of ESR1-203, two main ESR1 isoforms in brain. In prefrontal cortex from subjects with bipolar disorder, schizophrenia, and controls (n = 35 each; Stanley Foundation brain bank), allelic ESR1 mRNA ratios deviated from unity up to tenfold at the exon4 marker SNP, with large allelic ratios observed primarily in bipolar and schizophrenic subjects. SNP scanning and targeted sequencing identified rs2144025, associated with large allelic mRNA ratios (p = 1.6E10-6).	Attention-Deficit/Hyperactivity Disorder	Genome
1691	28617822	9606	Blood	ICD-9	Case-control based	NA	Genotyping	In this population study of children, rs2144025 is associated with psychological diagnoses in Caucasian girls, but not boys, in dominant and allelic tests (p=0.002 and p=0.01, respectively, OR=3.2, Table 8). Psychological diagnosis in this GWAS is defined as ICD9 codes 296-313, which include episodic mood disorders such as BD, mood and anxiety disorders but not autism, schizophrenia, or ADHD.	Psychotic Disorder	Genome
1692	28617822	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Table E: Allele frequencies, location, and basic allele tests of all ESR1 SNPs from the GAIN Bipolar Disorder data set, showing the association with number of hypomania episodes. Analyses were conducted with all subjects, and with males and females separately.  rs2144025 stands out as most significant among females.	Attention-Deficit/Hyperactivity Disorder	Genome
1693	28617822	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Table E: Allele frequencies, location, and basic allele tests of all ESR1 SNPs from the GAIN Bipolar Disorder data set, showing the association with number of hypomania episodes. Analyses were conducted with all subjects, and with males and females separately.  rs2144025 stands out as most significant among females.	Schizophrenia	Genome
1694	28617822	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Table E: Allele frequencies, location, and basic allele tests of all ESR1 SNPs from the GAIN Bipolar Disorder data set, showing the association with number of hypomania episodes. Analyses were conducted with all subjects, and with males and females separately.  rs2144025 stands out as most significant among females.	Bipolar Disorder	Genome
1695	28623238	9606	Blood	DSM-IV	Case-control based	NA	qRT-PCR	We propose a novel mechanism that involves MMP-9-dependent changes in dendritic spine morphology and the pathophysiology of schizophrenia, providing the first mechanistic insights into the way in which the single base change in the MMP-9 gene (rs20544) influences gene function and results in phenotypic changes observed in schizophrenia patients.	Schizophrenia	Genome
1696	28626208	9606	Blood	NA	Case-control based	PCR-RFLP	PCR-RFLP	The results show that the GG homozygotes had a significantly higher level of HDL-C than the A allele carriers of TrkB rs1187327 after the adjustment for gender, age and body mass index (BMI) (1.44<U+00C2>±0.299 mmol/L vs. 1.39<U+00C2>±0.266 mmol/L, p=0.036).	Posttraumatic Stress Disorder	Genome
1697	28630421	9606	Blood	DSM-IV	Case-control based	GWAS	GWAS	Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell Factor 1)	Anorexia Nervosa	Genome
1698	28632202	9606	Blood	DSM-IV	Case-control based	Infinium PsychArray-24 Bead Chip	SNP-array	We believe our study is the first to demonstrate that BOR overlaps with BIP, MDD and SCZ on the genetic level.Single marker analysis revealed no significant association after correction for multiple testing. (Supplementary Table 2: Association results for single markers)	Borderline Personality Disorder	Genome
1699	28645778	9606	Blood	DSM-IV	Family based	Illumina HiSeq platform	WGS	Table S10. The genotypes of the SCZ-risk alleles in MZ twins	Schizophrenia	Genome
1700	28645778	9606	Blood	DSM-IV	Family based	Illumina HiSeq platform	WGS	Table S13. Summary of the rare inherited loss-of-function or damaging variants in SCZ-associated genes in 8 pairs of MZ twins	Schizophrenia	Genome
1701	28645778	9606	Blood	DSM-IV	Family based	WGS	WGS	Table S13. Summary of the rare inherited loss-of-function or damaging variants in SCZ-associated genes in 8 pairs of MZ twins.	Schizophrenia	Genome
1702	28666839	9606	Blood//Buccal swabs	DSM-IV	Case-control based	MassARRAY	MassARRAY	Being small for gestational age (SGA) has been established as a risk factor for Attention Deficit Hyperactivity Disorder (ADHD). Likewise, several molecular genetic studies have found a link between DAT1 and ADHD. This study investigated whether SGA moderates the effect of dopamine transporter gene variants on the risk of ADHD. A total of 546 children of European descent were genotyped at age 11 for seven DAT1 SNPs (rs6347, rs11564774, rs40184, rs1042098, rs2702, rs8179029 and rs3863145).	Attention-Deficit/Hyperactivity Disorder	Genome
1703	28666839	9606	Blood//Buccal swabs	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	We found significant geneenvironment interactions between birth weight and DAT1 SNPs (rs6347, rs40184, rs1042098, rs3863145) on ADHD symptoms at 3.5 years only.	Attention-Deficit/Hyperactivity Disorder	Genome
1704	28668716	9606	Blood	DSM-IV	Case-control based	NA	SNP-array	After controlling for genetic architecture and gender, we replicated rs300774 (p=0.012), near ACP1 (acid phosphatase 1), the top predictor of suicide attempts in the BD study. The other two SNPs, rs7296262, and rs10437629, were not associated with suicide attempts in this study. rs300774 could be a cis-eQTL for ACP1, with minor allele carriers having lower expression levels (p=0.002).	Bipolar Disorder	Genome
1705	28670437	9606	Blood	DSM-IV-TR//DSM-5	Case-control based	aCGH	aCGH	Additional file 1: Supplementary Table S1. Regions of Variants of Uncertain Clinical Significance found in our cohort. 	Autism Spectrum Disorder	Genome
1706	28670437	9606	Blood	DSM-IV-TR//DSM-5	Case-control based	aCGH	aCGH	Ten pathogenic CNVs and one likely pathogenic CNV were found in nine patients, with an overall diagnostic yield of 3.5%. A 138 kb duplication involving 3芒鈧	Autism Spectrum Disorder	Genome
1707	28670437	9606	Blood	DSM-IV-TR//DSM-5	Case-control based	aCGH	aCGH	Additional file 1: Supplementary Table S1. Regions of Variants of Uncertain Clinical Significance found in our cohort.	Autism Spectrum Disorder	Genome
1708	28670437	9606	Blood	DSM-IV-TR//DSM-5	Case-control based	aCGH	aCGH	Ten pathogenic CNVs and one likely pathogenic CNV were found in nine patients, with an overall diagnostic yield of 3.5%. A 138 kb duplication involving 3a€2 exons of DPP10 (arr[GRCh37] 2q14.1(116534689_116672358)x3), reported to be associated with ASD, was identified in one patient (0.39%).	Autism Spectrum Disorder	Genome
1709	28686326	9606	Blood	NA	Case-control based	SNP Array	SNP-array	TABLE 1 Polymorphisms associated with posttraumatic stress disorder	Posttraumatic Stress Disorder	Genome
1710	28687733	9606	Blood//Saliva	DSM-IV//MINI-KID	Case-control based	Genotyping//RT-PCR//Brain imaging	Genotyping//RT-PCR//Brain imaging	We examined whether the cortico-cerebellar executive function network is altered in children with ADHD and whether COMT polymorphism is associated with the altered network. Thirty-one children with ADHD and thirty age- and IQ-matched typically developing (TD) controls underwent resting-state functional MRI, and functional connectivity of executive function-related Crus I/II in the cerebellum was analysed. COMT Val158Met genotype data were also obtained from children with ADHD.	Attention-Deficit/Hyperactivity Disorder	Genome
1711	28687733	9606	Blood	DSM-IV	Case-control based	StepOnePlus System	RT-PCR	These results suggest the existence of variations, such as ethnic differences, in COMT genetic effects on the cortico-cerebellar executive function network.	Attention-Deficit/Hyperactivity Disorder	Genome
1712	28692863	9606	Blood	ICD-10	Case-control based	NA	PCR-RFLP	Significant differences in the frequencies of single nucleotide proteins (SNPs) rs180498 (Taq1D) and rs6305 (C516T) polymorphisms were found amongst the groups defined according to percent decline in PANSS.	Schizophrenia	Genome
1713	28696411	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Table 2. 10 SNPs were significantly related with risperidone treatment response by NGS	Schizophrenia	Genome
1714	28710909	9606	Blood	DSM-IV	Case-control based	Illumina GoldenGate array	SNP-array	Instead, other rarer genetic variants in GAD1 showed suggestive signals (e.g. rs575441409, p-value=3.8*10-4, D'=1 with rs3749034) with BD in the Taiwanese dataset.	Bipolar Disorder	Genome
1715	28723299	9606	Blood	DSM-IV-TR	Case-control based	NA	Genotyping	Novel alleles were detected at the long extreme of the GTTT-repeat, at 10- and 11-repeats, in the SCZ cases and controls.	Schizophrenia	Genome
1716	28730747	9606	Blood	Others	Case-control based	Genotyping//PCR	Genotyping//PCR	The study emphasised the potential role of 5HT2C receptor gene polymorphisms in patients with lifelong premature ejaculation.	Premature (Early) Ejaculation	Genome
1717	28736618	9606	Blood		Case report	Microarray	Microarray	The result showed a 3.17Mb deletion in the 15q14 region (15q14:34,105,933-37,270,012) [hg19], which is depicted in Figure 1c. The genes involved in the 3.2Mb deletion region are summarized in Supplementary Table S1.	Autism Spectrum Disorder	Genome
1718	28736618	9606	Blood	NA	Case report	Microarray	Microarray	The result showed a 3.17Mb deletion in the 15q14 region (15q14:34,105,933-37,270,012) [hg19], which is depicted in Figure 1c. The genes involved in the 3.2Mb deletion region are summarized in Supplementary Table S1.	Autism Spectrum Disorder	Genome
1719	28758885	9606	Blood	DSM-IV	Case-control based	NA	SNP-array	Linear regression revealed a signifcant relationship between the three SNPs, rs2915885 (p=2.292<U+00C3>—10-5, MAF=0.4234), rs11167557 (p=3.235<U+00C3>—10-5, MAF=0.4234), and rs1428159 (p=5.063<U+00C3>—10-5, MAF=0.4265),that are all positioned within GLRA1, and dimensional traits related to the disorganized symptoms cluster.	Schizophrenia	Genome
1720	28763059	9606	Blood	DSM-5	Case-control based	aCGH	aCGH	Table 1 CX3CR1 variants identified in this study	Autism Spectrum Disorder	Genome
1721	2876402	9606	Blood	DSM-IV	Case-control based	SNP-array	SNP-array	NA	Schizophrenia	Genome
1722	287644025	9606	Blood	DSM-IV	Case-control based	NA	SNP-array	Table 2. Te SNPs with suggestive signal associated with age at onset of schizophrenia between diferent comparisons	Schizophrenia	Genome
1723	28783930	9606	Blood	DSM-IV	Case-control based	Sequenom MALDI-TOF	Sequenom MALDI-TOF	Eighty-seven children with ADHD (mean age, 9.23±1.99 years) participated in this study. Omission errors, commission errors, reaction time, and reaction time variability on the CPT were analyzed. The single-nucleotide polymorphism (SNP) rs3746544 (1065 T＞G) of SNAP-25 was genotyped to examine the association with CPT performance. We found significantly more omission errors on the CPT among children with the TT genotype of SNAP-25 (t=2.56, p=0.012) after correcting for multiple testing.	Attention-Deficit/Hyperactivity Disorder	Genome
1724	28783930	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	We found significantly more omission errors on the CPT among children with the TT genotype of SNAP-25 (t=2.56, p=0.012) after correcting for multiple testing.	Attention-Deficit/Hyperactivity Disorder	Genome
1725	28792954	9606	Blood	DSM-IV	Case-control based	Illumina Infinium PsychArray BeadChip	SNP-array	Three of the examined CACNA1C variants, rs4765913, rs4765914, and rs2239063, were associated with sleep latency (permuted P<0.05).(Table 3)	Insomnia Disorder	Genome
1726	28793231	9606	Blood	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	These findings suggest that the mitochondrial DNA 10398 A/G polymorphism play a possible role in the genetic etiology of ADHD in Korean children.	Attention-Deficit/Hyperactivity Disorder	Genome
1727	28798405	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	Here, we review recent progress in genome-wide association studies of schizophrenia in Han Chinese populations. (Table 3. Comparison of single-marker association results of schizophrenia in Chinese population and PGC2 sample)	Schizophrenia	Genome
1728	28808521	9606	Blood	DSM-IV-TR//ASDS	Family based	NA	Genotyping	When quantitative traits were used in the FBAT, rs7294536 and rs10877969 were statistically significant in all genotype models and modes.	Autism Spectrum Disorder	Genome
1729	28809852	9606	Blood	DSM-IV	Case-control based	Affymetrix Genome-Wide Human SNP Array 6.0//Illumina Infinium HumanExome BeadChip	Affymetrix Genome-Wide Human SNP Array 6.0//Illumina Infinium HumanExome BeadChip	We performed a two-stage association study for ADHD in the Han Chinese population. The association was further validated by follow-up replications for four selected SNPs: rs1979398 (P-value=2.64E-6), rs16880453 (P-value=3.58E-4), rs1531545 (P-value=7.62E-4) and rs4074793 (P-value=2.03E-4). Our results suggest that genetic variants in ITGA1 may be involved in the etiology of ADHD and the SNP-set based analysis is a promising strategy for the detection of underlying genetic risk factors.	Attention-Deficit/Hyperactivity Disorder	Genome
1730	28809852	9606	Blood	DSM-IV	Case-control based	Affymetrix Genome-Wide Human SNP Array 6.0//Illumina Infinium HumanExome BeadChips	SNP-array	Table 3 The association results of the four SNPs in ITGA1	Attention-Deficit/Hyperactivity Disorder	Genome
1731	28826413	9606	Brain	DSM-IV	Case-control based	NA	Genotyping	Analysis of diffusion-weighted images did not detect main or interaction effects for rs4281084 or rs12155594 but did identify a main effect for their combined allelic load on FA in a left middle frontal cluster(max t value=5.21, pFWE=0.019; Fig. 3)	Schizophrenia	Genome
1732	28830823	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	To investigate the association between the SLC5A7 polymorphisms and Tourette syndrome (TS) in the Chinese Han population, the SNP rs1013940, rs2433718, and rs4676169 were genotyped in 401 TS trios and 400 controls. However, no transmission disequilibrium was found between the three SLC5A7 SNPs and TS.	Tourette's Disorder	Genome
1733	28850482	9606	Hair	NA	Case-control based	NA	qPCR	The PER3 length polymorphism (rs57875989) is also signifcantly associated with diurnal preference and anxiety.	Anxiety Disorder	Genome
1734	28850482	9606	Hair	NA	Case-control based	NA	qPCR	In our study, the PER3 single nucleotide polymorphism (rs228697) is signifcantly associated with diurnal preference and anxiety.	Anxiety Disorder	Genome
1735	28851079	9606	Blood	NA	Case-control based	Custom Illumina Infinium HD genotyping array	SNP-array	SNP, rs2352974, on chromosome 3p21.31 met genome-wide association (p=4.37<U+00C3>—10-8, OR=0.67). This SNP resides within the intronic region of the gene, TRAIP (TRAF interacting protein).	Schizophrenia	Genome
1736	28851079	9606	Blood	NA	Case-control based	Custom Illumina Infinium HD genotyping array	SNP-array	A meta-analysis of all SNPs on the ImmunoChip was also performed (data not presented). No additional individual SNP was associated at levels that exceed the accepted genome-wide levels of significance (p<5<U+00C3>—10-8).	Schizophrenia	Genome
1737	28851079	9606	Blood	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	Combining the WTCCC and replication datasets by meta-analysis (combined RDC-SABP, n=423, controls, n=9,494), we observed genome-wide significant association at one SNP, rs2352974, located within the intron of the gene TRAIP on chromosome 3p21.31 (p-value, 4.37<U+00C3>—10-8 ).	Schizophrenia	Genome
1738	28855605	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	MICB (rs6916394) a previously noted Caucasian candidate, was associated with schizophrenia at the p=0.02 level.	Schizophrenia	Genome
1739	28855605	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	One SNP, rs2064430, AHI1 (6q23.3, SZ Gene database SNP) was associated at the p=0.04 level.	Schizophrenia	Genome
1740	28855605	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	Table 3. SNPs nominally associated with schizophrenia (this study)	Schizophrenia	Genome
1741	28864885	9606	Blood	NA	Case-control based	NA	Genotyping//Meta-analysis	Our systematic meta-analysis is the most updated one for the association of DAO, DAOA, and NRG1 SNPs with schizophrenia.(Table 1 Summary of DAO polymorphisms meta-analyses)	Schizophrenia	Genome
1742	28867284	9606	Blood	DSM-IV	Case-control based	Illumina HumanOmni2.5-8 microarrays	Microarray	rs3091244, a functional SNP in the CRP promoter region, moderated the association between lifetime trauma exposure and current PTSD severity.	Posttraumatic Stress Disorder	Genome
1743	28867284	9606	Blood	DSM-IV	Case-control based	Illumina HumanOmni2.5-8 microarrays	Microarray	Analyses also revealed that the top SNPs from the largest genome-wide association study of CRP conducted to date (rs1205 and rs2794520) significantly interacted with PTSD to influence CRP levels.	Posttraumatic Stress Disorder	Genome
1744	28872562	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	Our results suggest that GPX1 rs1050450 and GSTP1 rs1695 SNPs are unlikely to play a major role in the pathogenesis of schizophrenia in the Chinese Han population.	Schizophrenia	Genome
1745	28883732	9606	Blood	DSM-IV	Case-control based	NA	Genotyping//Meta-analysis	Our result suggests that genetic variant rs1344706 might be associated with the development of schizophrenia in Asians.	Schizophrenia	Genome
1746	28883732	9606	Blood	DSM-IV	Case-control based	NA	Genotyping//Meta-analysis	In their analysis, SNP rs359895 was found to have a strong association with schizophrenia in the Chinese population.	Schizophrenia	Genome
1747	28888721	9606	Blood	NA	Family based	TaqMan qPCR assay	TaqMan	These results indicate ApoE <U+00CE>μ2 as a risk factor in FTD-3 and suggest a protective role of <U+00CE>μ4.	Frontotemporal Neurocognitive Disorder	Genome
1748	28891527	9606	Blood	DSM-IV	Case-control based	NA	qPCR	There were significant difference in severity and functionality scores, but not in GDNF serum levels, between patients with G/G and G/A genotype of rs62360370 G >A SNP.rs2075680 C >A and rs79669773 T >C SNPs had no effect on bipolar disorder severity and functionality scores and GDNF serum levels.	Bipolar Disorder	Genome
1749	28902459	9606	Blood	DSM-IV	Case-control based	TaqMan Assay	TaqMan	TABLE 2 Top ten association results for schizophrenia risk	Schizophrenia	Genome
1750	28915082	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	We observed an association between the SLC6A15 rs1545843 and resting-state brain function of the corpus callosum, cingulum and the frontal, parietal, and temporal lobes in MDD patients, which may be involved in the pathogenesis of MDD.	Major Depressive Disorder	Genome
1751	28915380	9606	Blood	DSM-IV	Case-control based	Array	SNP-array	When patients with OCD were stratified according to the age at onset, rs268493 and rs13316193 showed statistically significant association (p=0.00185 and p=0.00461, respectively), and rs237885, rs237887,and rs4686301 showed nominally significant association with the age at onset.	Obsessive Compulsive Disorder	Genome
1752	28915380	9606	Blood	DSM-IV	Case-control based	Array	SNP-array	Single-marker and haplotype-based association analyses were conducted. While OXTR variants were not associated with the affected status of OCD or its clinical symptom dimensions, rs2268493 (p=0.00185) and rs13316193 (p=0.00461) of the OXTR gene were associated with the age at onset in patients with OCD. In addition, in haplotype-based association analyses, there was a significant association between the OXTR gene and the onset age in patients with OCD. In particular, the G-C-G haplotype of rs2268493-rs2254298-rs11316193 and the T-G-A haplotype of rs237887-rs2268490-rs4686301 were positively associated with late-onset OCD. Our results suggest that common variants of OXTR may exert a modulating effect on the onset age in OCD pathophysiology.	Obsessive Compulsive Disorder	Genome
1753	28921760	9606	Blood	NA	Case-control based	ABI ViiATM 7 Real-Time PCR System//TaqMan SNP genotyping assays	Genotyping//RT-PCR	Table 2. Top 10 overall genetic variants significantly associated with the NMR in the metaanalyzed GWAS results from PNAT2 and KIS3 African American smokers	Tobacco Use Disorder	Genome
1754	28922980	9606	Blood	DSM-IV//ICD-10	Case-control based	Illumina HumanHap300 chip//Illumina HumanHap550 chip//Human-610 Quad Beadchip	SNP-array	Table 2. Top 30 markers showing suggestive association with the gamma-band response variable.	Schizophrenia	Genome
1755	28927378	9606	Buccal swabs	NA	Case-control based	HumanOmniExpress-12 v1.1 BeadChip//Infinium HD Ultra Assay	SNP-array	In this study, we explored how smoking status (non-smoker, sated smoker, abstinent smoker) alters resting state as well as task-based brain signaling during reward and disappointment. (Table S2. Top 5000 results from GWAS of caudate activity during reward)	Heroin Addiction	Genome
1756	28927378	9606	Buccal swabs	NA	Case-control based	HumanOmniExpress-12 v1.1 BeadChip//Infinium HD Ultra Assay	SNP-array	Table S3. Genes that contain or exhibit expression regulation by variants highlighted in GWAS of caudate activity during reward	Heroin Addiction	Genome
1757	28931914	9606	Blood	ADI-R	Case-control based	SNP-array	SNP-array	We found a significantly increased global burden of rare CNVs in the ASD group compared to the controls as a whole or when the rare CNVs were classified by the size and types of CNV. (Table 3 CNVs at the 芒鈧揾ot spots芒鈧	Autism Spectrum Disorder	Genome
1758	28931914	9606	Blood	ADI-R	Case-control based	Human SNP Array 6.0	SNP-array	We found a significantly increased global burden of rare CNVs in the ASD group compared to the controls as a whole or when the rare CNVs were classified by the size and types of CNV. (Table 3 CNVs at the a€<U+0153>hot spotsa€<U+009D> identified in this study)	Autism Spectrum Disorder	Genome
1759	28937693	9606	Blood	NA	Family based	Affymetrix array	SNP-array	Table 1 Fourteen loci reaching genome-wide significance for association with alcohol consumption in UKB after performing clump-based LD pruning	Alcohol Use Disorder	Genome
1760	28938222	9606	Blood	DSM-IV-TR	Case-control based	Genotyping//MRI	Genotyping//MRI	Recent studies suggested a link between ADHD and the presence of polymorphisms within the gene BAIAP2 (i.e., brain-specific angiogenesis inhibitor 1-associated protein 2), known to be differentially expressed in brain hemispheres. The clinical and neuroimaging correlates of this polymorphism are still unknown. We investigated the association between BAIAP2 polymorphisms and DMN functional connectivity (FC) asymmetry as well as behavioral measures in ADHD adults. Resting-state fMRI was acquired from 30 ADHD and 15 healthy adults.	Attention-Deficit/Hyperactivity Disorder	Genome
1761	28938222	9606	Blood	DSM-IV-TR	Case-control based	HRM assay	HRM	Further, when combining FC asymmetry and the presence of the rs8079626 variant, we successfully predicted increased externalization of anger in ADHD.	Attention-Deficit/Hyperactivity Disorder	Genome
1762	28971736	9606	Blood	DSM-IV	Case-control based	Affymetrix 6.0 Array	Affymetrix 6.0 Array	The trail-making test was used to test the cognitive flexibility of 788 ADHD patients. A genome-wide association analysis of cognitive flexibility was conducted for 644,166 SNPs. The top SNP rs2049161 (P = 5.08e-7) involved gene DLGAP1 and the top gene CADPS2 in the gene-based analysis resulted in much literature evidence of associations with psychiatric disorders.	Attention-Deficit/Hyperactivity Disorder	Genome
1763	28971736	9606	Blood	DSM-IV	Case-control based	Affymetrix 6.0 array	SNP-array	Table 1 Genes with nominal P<5e-4 in the gene level analysis.	Attention-Deficit/Hyperactivity Disorder	Genome
1764	28979981	9606	Blood	NA	Case-control based	NA	Genotyping//Meta-analysis	Three promising loci with sex-discordant associations were found (8535 female individuals, chromosome 1: rs2764450, chromosome 11: rs11215217; 7772 male individuals, chromosome X, rs41456347).	Antisocial Personality Disorder	Genome
1765	28990276	9606	Blood	DSM-IV	Case-control based	CMA(250K Nsp Array//Genomea€<U+0090>Wide SNP Array V.6.0//CytoScan HD [Affymetrix, Santa Clara, CA])//WES	WES	In this study, WES was performed in 27 patienta€<U+0090>parent trios, where the proband had an ID diagnosis. We report the identification of 25 DNVs. Of the DNVs we identify, we specifically highlight variants in PUF60 and NAA15 as variants providing novel insight into the etiology of ID.	Intellectual Disability	Genome
1766	28991256	9606	Blood	DSM-IV	Case-control based	SNP Array	SNP-array	Table 1 Novel schizophrenia GWs loci and notable genes	Schizophrenia	Genome
1767	28992603	9606	Blood	NA	Case-control based	NA	PCR-RFLP	Moreover, two SNPs (CYP17 -34 T:C (MSP AI) and CYP19 T:C (Trp:Arg)) of cytochrome P450, which is involved in steroid metabolism pathways, were analysed between the groups. The CYP17CC genotype was significantly associated with the disorder.	Childhood-Onset Fluency Disorder	Genome
1768	29027068	9606	Blood	DSM-IV-TR//ADI-R	Case-control based	aCGH	aCGH	We conducted an array-comparative genomic hybridization (array-CGH) analysis in 133 children with "essential" ASD phenotype. Genetic analyses documented that 12 children had causative CNVs (C-CNVs), 29 children had non-causative CNVs (NC-CNVs) and 92 children without CNVs (W-CNVs).	Autism Spectrum Disorder	Genome
1769	29027068	9606	Blood	DSM-IV-TR//ADI-R	Case-control based	aCGH	aCGH	40 presented a 28.3 Mb duplication involving the distal region of the short arm of chromosome4, (4p16.3p15.1).	Autism Spectrum Disorder	Genome
1770	29027068	9606	Blood	DSM-IV-TR//ADI-R	Case-control based	aCGH	aCGH	We conducted an array-comparative genomic hybridization (array-CGH) analysis in 133 children with "essential" ASD phenotype. Genetic analyses documented that 12 children had causative CNVs (C-CNVs), 29 children had non-causative CNVs (NC-CNVs) and 92 children without CNVs (W-CNVs).	Autism Spectrum Disorder	Genome
1771	29027068	9606	Blood	DSM-IV-TR//ADI-R	Case-control based	aCGH	aCGH	40 presented a 28.3 Mb duplication involving the distal region of the short arm of chromosome4, (4p16.3p15.1).	Autism Spectrum Disorder	Genome
1772	29027364	9606	Blood	NA	Case-control based	NA	Genotyping	Our main finding was that both Caucasian and Chinese samples exhibited a highly significant and robust association between the rs2268498 SNP andthetotalAQscoreatthegenotypelevelandthiswasindependent of gender.	Autism Spectrum Disorder	Genome
1773	29029846	9606	Blood	NA	Case-control based	NA	Genotyping//Meta-analysis	Table 1 Association results for lead single-nucleotide polymorphisms reaching genome-wide significance in the discovery meta-analysis	Restless Legs Syndrome	Genome
1774	29042897	9606	Blood	DSM-IV	Case-control based	Ilumina Integrated Bead Array	Ilumina Integrated Bead Array	This study showed that there was a significant correlation among the frequencies of the rs2081648 (OR=0.71, 95% CI=0.51-0.98, p=0.040) of alleles of MAO, but the final conclusions are not definite. Follow up studies with larger patient or pure subgroups are expected.	Attention-Deficit/Hyperactivity Disorder	Genome
1775	29042897	9606	Blood	DSM-IV	Case-control based	Illumina	SNP-array	This study showed that there was a significant correlation among the frequencies of the rs2081648 (OR=0.71, 95% CI=0.51-0.98, p=0.040) of alleles of MAO, but the final conclusions are not definite.	Attention-Deficit/Hyperactivity Disorder	Genome
1776	29045753	9606	Blood	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	RLS patients with the rs1229984CT genotype were younger, and those with the rs122984TT genotype older, at onset of RLS symptoms than those with the rs1229984CC genotype.	Restless Legs Syndrome	Genome
1777	29069077	9606	Blood		Case report	Array//Immunohistochemistry//Next-generation sequencing	Array//Immunohistochemistry//Next-generation sequencing	Our data highlight the clinical and molecular convergence between the KMT2 and EHMT protein families, which may contribute to a molecular network underlying a larger group of ID/ASD-related disorders.	Intellectual Disability	Genome
1778	29069077	9606	Blood	NA	Case report	Array//Immunohistochemistry//Next-generation sequencing	Array//Immunohistochemistry//Next-generation sequencing	Our data highlight the clinical and molecular convergence between the KMT2 and EHMT protein families, which may contribute to a molecular network underlying a larger group of ID/ASD-related disorders.	Intellectual Disability	Genome
1779	29070031	9606	Blood		Case report	Microarray	Microarray	In this report, we describe a 2-Mb duplication at 17q23.2q23.3 in a child with language disorder, learning difficulties, incoordination, fine motor skill impairment, infrequent seizures with abnormal EEG, behavior disorders (mild self-inflicted injuries, hyperactivity-inattention, and stereotyped hand movements), and distinctive facial features (thick eyebrows, down-slanted palpebral fissures, low-set posteriorly rotated ears, and thick lower lip). 	Language Disorder	Genome
1780	29070031	9606	Blood	NA	Case report	Microarray	Microarray	In this report, we describe a 2-Mb duplication at 17q23.2q23.3 in a child with language disorder, learning difficulties, incoordination, fine motor skill impairment, infrequent seizures with abnormal EEG, behavior disorders (mild self-inflicted injuries, hyperactivity-inattention, and stereotyped hand movements), and distinctive facial features (thick eyebrows, down-slanted palpebral fissures, low-set posteriorly rotated ears, and thick lower lip).	Language Disorder	Genome
1781	29112194	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	We conducted meta-analyses of genomewide association study (GWAS) data on 2,080 DSM-IV cannabis dependent cases and 6,435 cannabis exposed controls of European descent. A cluster of correlated single nucleotide polymorphisms (SNPs) in a novel region on chromosome 10 was genomewide significant (lowest p=1.3E-8). (Table 3. Association results for SNPs at P-valuea‰¤1<U+00C3>—10-6 in 2080 cannabis-dependent cases and 6435 cannabis-exposed controls of EA descent)	Cannabis Use Disorder	Genome
1782	29155802	9606	NA	DSM-IV//Semistructured interview//Structured interview	Case-control based	GWAS//Meta-analysis//Illumina Infinium HumanCoreExome BeadChip	GWAS//Meta-analysis//Illumina Infinium HumanCoreExome BeadChip	Two notable common variants were identified: rs10791286, an intronic variant in OPCML (P=9.89 × 10 6), and rs7700147, an intergenic variant (P=2.93 × 10 5).	Anorexia Nervosa	Genome
1783	29156220	9606	Blood		Case-control based	SNP-array	SNP-array	Table 1 Pathogenic CNVs.	Intellectual Disability	Genome
1784	29156220	9606	Blood	NA	Case-control based	SNP Array	SNP-array	Table 1 Pathogenic CNVs.	Intellectual Disability	Genome
1785	29158582	9606	NA	DSM-IV//ICD-9//ICD-10	Case-control based	Meta-analysis	Meta-analysis	An overall meta-analysis of all included samples suggested that both SNPs were significantly associated with increased risk of BPD (11105 cases and 51?331 controls; rs2709370, P=2.33 × 10-4; rs6785, P=6.33 × 10-5), SCZ (34913 cases and 44528 controls; rs2709370, P=3.96 × 10-5; rs6785, P=2.44 × 10-5) and MDD (9369 cases and 9619 controls; rs2709370, P=0.0144; rs6785, P=0.0314), with the same direction of allelic effects across diagnostic categories.	Schizophrenia	Genome
1786	29174947	9606	NA	Others	Family based	GWAS//EWAS	GWAS//EWAS	Table 1. Suggestive associations in the RBFOX1 gene identified in GWAS of aggressive behaviors.	Aggressive Behaviors	Genome
1787	29174947	9606	NA	Others	Case-control based	GWAS//EWAS	GWAS//EWAS	Table 1. Suggestive associations in the RBFOX1 gene identified in GWAS of aggressive behaviors.	Aggressive Behaviors	Genome
1788	29176790	9606	Blood	DSM-IV	Case-control based	MassARRAY	MassARRAY	We conducted a two-stage case-control study to investigate the associations between five key genes (KChIP4, KChIP1, DPP10, FHIT, and KCNC1) and the risk of developing ADHD. In the discovery stage comprising 256 cases and 372 controls, KChIP1 rs1541665 and FHIT rs3772475 were identified; they were further genotyped in the validation stage containing 328cases and 431 controls.	Attention-Deficit/Hyperactivity Disorder	Genome
1789	29176790	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	FHIT rs3772475 has also been observed to have significant association with ADHD under dominant model (OR=1.572, 95% CI=1.128-2.306, P-FDR=0.028).	Attention-Deficit/Hyperactivity Disorder	Genome
1790	29176790	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	S1 Table Characteristic data of the candidate polymorphisms	Attention-Deficit/Hyperactivity Disorder	Genome
1791	29176790	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	MassARRAY	However, as shown in Table 2, in stage one, KCNIP1 rs1541665 was significantly associated with ADHD under the codominant model (OR=1.972, 95% CI=1.197-3.223, P-FDR =0.028), dominant model (OR=1.611, 95% CI=1.169-2.319, P-FDR =0.028), and addictive model (OR=1.633, 95% CI=1.199-2.427, P-FDR =0.028) after FDR correction.	Attention-Deficit/Hyperactivity Disorder	Genome
1792	29179725	9606	Blood	DSM-IV//ICD-10	Case-control based	SNP-array	SNP-array	Table 1 Rare CNVs discovered in the paediatric obsessive compulsive disorder (EO-OCD) patients including inheritance pattern	Obsessive Compulsive Disorder	Genome
1793	29179725	9606	Blood	DSM-IV//ICD-10	Case-control based	Cytoscan HD Array	SNP-array	Table 1 Rare CNVs discovered in the paediatric obsessive compulsive disorder (EO-OCD) patients including inheritance pattern	Obsessive Compulsive Disorder	Genome
1794	29187730	9606	Blood	NA	Case-control based	Affymetrix UK BiLEVE Axiom array	SNP-array	Table 2 Genome-wide significant loci associated with mood instability in UK Biobank	Posttraumatic Stress Disorder	Genome
1795	29191242	9606	Blood	DSM-IV-TR	Case-control based	SNP-array//Meta-analysis	SNP-array//Meta-analysis	In the first large scale meta-analysis of CNVs across multiple neurodevelopmental/psychiatric diseases, we uncovered novel significant associations of structural variants in the locus of DOCK8/KANK1 shared by five diseases, suggesting common etiology of these clinically distinct neurodevelopmental conditions.	Schizophrenia	Genome
1796	29191242	9606	Blood	DSM-IV-TR	Case-control based	SNP-array//Meta-analysis	SNP-array//Meta-analysis	In the first large scale meta-analysis of CNVs across multiple neurodevelopmental/psychiatric diseases, we uncovered novel significant associations of structural variants in the locus of DOCK8/KANK1 shared by five diseases, suggesting common etiology of these clinically distinct neurodevelopmental conditions.	Autism Spectrum Disorder	Genome
1797	29191242	9606	Blood	DSM-IV-TR	Case-control based	Affymetrix 6.0 array//Meta-analysis	SNP-array//Meta-analysis	In the first large scale meta-analysis of CNVs across multiple neurodevelopmental/psychiatric diseases, we uncovered novel significant associations of structural variants in the locus of DOCK8/KANK1 shared by five diseases, suggesting common etiology of these clinically distinct neurodevelopmental conditions.	Schizophrenia	Genome
1798	29191242	9606	Blood	DSM-IV-TR	Case-control based	Illumina HumanHap 550 chip//Meta-analysis	SNP-array//Meta-analysis	In the first large scale meta-analysis of CNVs across multiple neurodevelopmental/psychiatric diseases, we uncovered novel significant associations of structural variants in the locus of DOCK8/KANK1 shared by five diseases, suggesting common etiology of these clinically distinct neurodevelopmental conditions.	Autism Spectrum Disorder	Genome
1799	29198511	9606	Saliva	Others	Case-control based	Genotyping	Genotyping	We found no associations between dopamine receptor gene polymorphisms and PE, but 2 COMT-linked loci (rs4680 and rs4818) had significant associations after correction for multiple testing.	Premature (Early) Ejaculation	Genome
1800	29198511	9606	Blood	NA	Case-control based	NA	NA	We found no associations between dopamine receptor gene polymorphisms and PE, but 2 COMT-linked loci (rs4680 and rs4818) had significant associations after correction for multiple testing.	Premature (Early) Ejaculation	Genome
1801	29209388	9606	Blood	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	In the initial GWA study of RLS, we observed an association of rs11645604 (OR=1.531, p=1.18<U+00C3>—10-6) in MPHOSPH6 on chromosome 16q23.3, rs1918752 (OR=0.6582, p=1.93<U+00C3>—10-6) and rs9390170 (OR=0.6778, p=7.67<U+00C3>—10-6) in UTRN on chromosome 6q24.	Restless Legs Syndrome	Genome
1802	29209394	9606	Blood	ADI-R//ASDS	Family based	GoldenGate bead array	SNP-array	Table 1 The family-based association test results for sociality related multiple traits of Korean ASD with single nucleotide polymorphisms in SEMA5A gene using bi-allelic mode	Autism Spectrum Disorder	Genome
1803	29249826	9606	Blood	DSM-IV	Case-control based	Agena iPLEX assay (Agena Bioscience, San Diego, CA)	MassARRAY	The genotypes for the four candidate SNPs (rs9296158, rs1360780, rs3800373, rs9470080) on FKBP5 were not significantly associated with PTSD (Supplementary Table 5).	Posttraumatic Stress Disorder	Genome
1804	29256028	9606	Blood	DSM-V	Case-control based	Genotyping//TaqMan	Genotyping//TaqMan	The characteristics of the study sample are shown in Table 1. Correlations between person-related and environment-related life stressors were r=0.22 (p<0.001) at T1-T2 and r=0.33 (p<0.001) at T2-T3. Correlations between ADHD symptoms and internalizing behavior at the same time points ranged from 0.37 to 0.45 (all p-values < 0.001) for variations of the 5-HTTLPR genotype.	Attention-Deficit/Hyperactivity Disorder	Genome
1805	29260337	9606	Blood		Case Report	aCGH	aCGH	Table 1 Summary of literature reports of CNVs affecting the 7q33 cytoband	Global Developmental Delay	Genome
1806	29260337	9606	Blood		Case Report	aCGH	aCGH	Table 1 Summary of literature reports of CNVs affecting the 7q33 cytoband	Intellectual Disability	Genome
1807	29260337	9606	Blood	NA	Case Report	aCGH Agilent 180 K custom array//Affymetrix CytoScan 750 K platform	aCGH	Table 1 Summary of literature reports of CNVs affecting the 7q33 cytoband	Global Developmental Delay	Genome
1808	29260337	9606	Blood	NA	Case Report	aCGH Agilent 180 K custom array//Affymetrix CytoScan 750 K platform	aCGH	Table 1 Summary of literature reports of CNVs affecting the 7q33 cytoband	Intellectual Disability	Genome
1809	29263008	9606	Blood	NA	Case-control based	Illumina Omni2.5M array//Illumina OmniExpress genotyping array//Illumina Omni1M array	SNP-array	Results confirm previously reported associations: APOE (rs429358; odds ratio [OR] 2.40, 95% CI 2.14-2<U+00C2>·70; p=1.05<U+00C3>—10-48), SNCA (rs7681440; OR 0.73, 0.66-0.81; p=6.39<U+00C3>—10-10), and GBA (rs35749011; OR 2.55, 1.88-3.46; p=1.78<U+00C3>—10-9). They also provide some evidence for a novel candidate locus, namely CNTN1 (rs7314908; OR 1.51, 1.27-1.79; p=2.32<U+00C3>—10-6); further replication will be important. (Table 2 Top signals of association at each locus that passed genome-wide threshold for significance and their replication and meta-analysis p values)	Neurocognitive Disorder With Lewy Bodies	Genome
1810	29270193	9606	Blood	DSM-5	Case Report	SNP-array	SNP-array	We report the case of a 6-year-old Caucasian boy with a clinical diagnosis of intellectual disability, delayed language development and dyspraxia who carries an approximately 8 Mb de novo heterozygous microdeletion in the 6q26-q27 locus identified by karyotype and defined by high-resolution SNP-array analysis.	Developmental Coordination Disorder	Genome
1811	29270193	9606	Blood	DSM-5	Case Report	SNP Array	SNP-array	We report the case of a 6-year-old Caucasian boy with a clinical diagnosis of intellectual disability, delayed language development and dyspraxia who carries an approximately 8 Mb de novo heterozygous microdeletion in the 6q26-q27 locus identified by karyotype and defined by high-resolution SNP-array analysis.	Developmental Coordination Disorder	Genome
1812	29274487	9606	Blood		Case-control based	SNP-array	SNP-array	Chromosomal microarray analysis performed using high-resolution SNP-array platform revealed a de novo interstitial 60Kb microdeletion in the 7p22.1 region (from 5,509,127 bp to 5,569,096 bp, hg19) encompassing only two genes: FBXL18 and ACTB.	Global Developmental Delay	Genome
1813	29274487	9606	Blood	NA	Case-control based	SNP Array	SNP-array	Chromosomal microarray analysis performed using high-resolution SNP-array platform revealed a de novo interstitial 60Kb microdeletion in the 7p22.1 region (from 5,509,127 bp to 5,569,096 bp, hg19) encompassing only two genes: FBXL18 and ACTB.	Global Developmental Delay	Genome
1814	29292194	9606	Blood	NA	Case-control based	PCR-RFLP	PCR-RFLP	MMP-8 -799TT genotype differed significantly in HIV-infected individuals compared to healthy controls (20.0% vs. 11.3%, OR=2.36, P=0.048).	Neurocognitive Disorder Due to HIV	Genome
1815	29304071	9606	Blood	DSM-IV	Case-control based	SNaPShot	SNaPshot	In single SNP analyses, nominally significant associations were observed between rs301443 and PT (p=0.046), rs3780412 and FS (p=0.044), rs2228622 and PD (p=0.034), and rs3780412 and PD (p=0.016) (S6-S9 Tables). However, the significance of these associations disappeared after adjusting for multiple comparisons. In haplotype analyses, the C-T-G haplotype in block 2 (rs301430-rs301434-rs3087879) was significantly associated with higher PD scores (Hap-score=2.0427, crude p=0.0411, simulated p=0.0419) (Table 4). However, none of the remaining haplotypes in blocks 1 and 2 exhibited any associations with PT, FS, or EC scores on the IRI (S10-S12 Tables). When the single-marker and haplotype analyses were repeated separately for male and female participants, the association between C-T-G haplotype in block 2 and PD score was no longer significant (data not shown).	Obsessive Compulsive Disorder	Genome
1816	29304071	9606	Blood	DSM-IV	Case-control based	SNaPShot	SNaPshot	Our results suggest that six common SNPs of SLC1A1 may not contribute to the development of OCD, but may contribute to certain aspect of trait empathy such as personal distress.	Obsessive Compulsive Disorder	Genome
1817	29391396	9606	Blood	DSM-IV	Case-control based	Affymetrix Genome-Wide Human SNP array 6.0	SNP-array	Table 1 Meta-analysis of BE in BD cases: top results	Binge Eating Disorder	Genome
1818	29415147	9606	NA	DSM-IV-TR//SCID-I//DSM-V	Case-control based	Illumina OmniExpress BeadChip	Illumina OmniExpress BeadChip	Rs6601604 was nominally significantly associated with AUD in EA, and 3 SNPs (rs6990313, rs11250159 and rs17153694) showed trend-level significance (P < 0.10) in AA.	Alcohol Use Disorder	Genome
1819	29415147	9606	Blood	DSM-IV-TR//DSM-IV//DSM-5	Case-control based	Illumina OmniExpress BeadChip array	SNP-array	Rs10112596 demonstrated a significant relationship with an anxiety measure among the African ancestry group with AUD.	Alcohol Use Disorder	Genome
1820	29415147	9606	Blood	DSM-IV-TR//DSM-IV//DSM-5	Case-control based	Illumina OmniExpress BeadChip array	SNP-array	Rs6601604 was nominally significantly associated with AUD in EA, and 3 SNPs (rs6990313, rs11250159 and rs17153694) showed trend-level significance (P<0.10) in AA. However, none of the SNPs were significant after correcting for multiple testing.	Alcohol Use Disorder	Genome
1821	29421787	9606	Blood		Case Report	Microarray	Microarray	We report on a de novo interstitial 1q22q23.1 microdeletion, 1.6 Mb in size, detected in a patient with short stature, microcephaly, hypoplastic corpus callosum, cleft palate, minor facial anomalies, congenital heart defect, camptodactyly of the 4-5th fingers, and intellectual disability. 	Intellectual Disability	Genome
1822	29421787	9606	Blood	NA	Case Report	Microarray	Microarray	We report on a de novo interstitial 1q22q23.1 microdeletion, 1.6 Mb in size, detected in a patient with short stature, microcephaly, hypoplastic corpus callosum, cleft palate, minor facial anomalies, congenital heart defect, camptodactyly of the 4-5th fingers, and intellectual disability.	Intellectual Disability	Genome
1823	29441218	9606	Blood		Case Report	aCGH	aCGH	A multifaceted diagnostic approach including conventional cytogenetics, microarray analysis, and FISH identified the presence of a derivative X chromosome with a Xq13.2-q28 deletion spanning the XIST gene, and 3q25.33-q29 duplication.	Intellectual Disability	Genome
1824	29441218	9606	Blood	NA	Case Report	aCGH	aCGH	A multifaceted diagnostic approach including conventional cytogenetics, microarray analysis, and FISH identified the presence of a derivative X chromosome with a Xq13.2-q28 deletion spanning the XIST gene, and 3q25.33-q29 duplication.	Intellectual Disability	Genome
1825	29486545	9606	Blood	DSM-IV	Case-control based	Genotyping//PCR	Genotyping//PCR	The therapeutic effect of methylphenidate (MPH) in treating attention-deficit/hyperactivity disorder (ADHD) has been related to the alpha-2A adrenergic receptor (ADRA2A) gene -1291C/G single nucleotide polymorphism (SNP). We investigated the effect of MPH in treating Taiwanese children and adolescent with ADHD and its relation to the ADRA2A gene -1291C/G SNP.	Attention-Deficit/Hyperactivity Disorder	Genome
1826	29486545	9606	Blood	DSM-IV	Case-control based	NA	Genotyping	The ADRA2A gene -1291C/G SNP is associated with the efficacy of MPH for the treatment of ADHD in Taiwanese children and adolescents.	Attention-Deficit/Hyperactivity Disorder	Genome
1827	29497164	9606	Blood	DSM-IV	Case-control based	TaqMan Genotyping Assay	TaqMan	We found no relationship between OPRM1 rs1799971 genotype and subjective response to alcohol or craving. OPRM1 genotype was not associated with total alcohol exposure or likelihood of attaining a binge-level exposure (80mg%) during the intravenous alcohol self-administration session.	Alcohol Use Disorder	Genome
1828	29497192	9606	Blood	NA	Case-control based	TaqMan SNP Genotyping Assay	TaqMan	There was no statistically significant difference in genotypic and allelic frequencies of OPRM1 A118G SNP between HCs and SZ/BD patients.	Schizophrenia	Genome
1829	29499969	9606	Blood	NA	Case-control based	SNP array//Meta-analysis	SNP-array//Meta-analysis	Our data reveal that schizophrenia-associated rs4702 G allele-specific downregulation of FURIN by miR-338-3p reduces mature BDNF production.	Schizophrenia	Genome
1830	29503163	9606	Blood	NA	Case-control based	SNP array//Meta-analysis	SNP-array//Meta-analysis	In the combined sample of the discovery and validation cohorts, we identified five novel loci showing genome-wide significant associations with general antipsychotic treatment response (rs72790443 in MEGF10 [p=1.40<U+00C3>—10-9], rs1471786 in SLC1A1 [p=2<U+00C2>·33<U+00C3>—10-9], rs9291547 in PCDH7 [p=3<U+00C2>·24<U+00C3>—10-9], rs12711680 in CNTNAP5 [p=2<U+00C2>·12<U+00C3>—10-8], and rs6444970 in TNIK [p=4<U+00C2>·85<U+00C3>—10-8]).	Schizophrenia	Genome
1831	29520036	9606	Blood	DSM-V	Case-control based	GWAS//Meta-analysis//Genotyping	GWAS//Meta-analysis//Genotyping	Table 3 NSS1, NSS2 and PPDS GWAS Trans-Ethnic Meta-analysis Results for Insomnia Disorder at genome-wide significance p < 5×10 8 (in bold) and suggestive results p < 10 6	Insomnia Disorder	Genome
1832	29520036	9606	Blood	DSM-5	Case-control based	Genotyping	Genotyping	Insomnia associated loci may contribute to the genetic risk underlying a range of health conditions including psychiatric disorders and metabolic disease.(Table 2a NSS1, NSS2 and PPDS GWAS Ancestry-Specific Results for Insomnia Disorder at genome-wide significance p<5<U+00C3>—10-8 (in bold) and suggestive results at p<10-6 in Soldiers of European Ancestry)	Insomnia Disorder	Genome
1833	29520036	9606	Blood	DSM-5	Case-control based	Genotyping	Genotyping	Insomnia associated loci may contribute to the genetic risk underlying a range of health conditions including psychiatric disorders and metabolic disease.(Table 2b NSS1, NSS2 and PPDS GWAS Ancestry-Specific Results for Insomnia Disorder at genome-wide significance p<5<U+00C3>—10-8 (in bold) and suggestive results at p<10-6 in Soldiers of African Ancestry)	Insomnia Disorder	Genome
1834	29520036	9606	Blood	DSM-5	Case-control based	Genotyping	Genotyping	Insomnia associated loci may contribute to the genetic risk underlying a range of health conditions including psychiatric disorders and metabolic disease.(Table 2c NSS1, NSS2 and PPDS GWAS Ancestry-Specific Results for Insomnia Disorder with suggestive results at p<10-6 in Soldiers of Latino Ancestry)	Insomnia Disorder	Genome
1835	29520036	9606	Blood	DSM-5	Case-control based	Genotyping	Genotyping	Insomnia associated loci may contribute to the genetic risk underlying a range of health conditions including psychiatric disorders and metabolic disease.Table 3 NSS1, NSS2 and PPDS GWAS Trans-Ethnic Meta-analysis Results for Insomnia Disorder at genome-wide significance p<5<U+00C3>—10-8 (in bold) and suggestive results p<10-6)	Insomnia Disorder	Genome
1836	29520036	9606	Blood	DSM-5	Case-control based	NA	Genotyping	Table 3 NSS1, NSS2 and PPDS GWAS Trans-Ethnic Meta-analysis Results for Insomnia Disorder at genome-wide significance p<5<U+00C3>—10-8 (in bold) and suggestive results p<10-6.	Insomnia Disorder	Genome
1837	29520036	9606	Blood	DSM-5	Case-control based	NA	Genotyping	Table 2c NSS1, NSS2 and PPDS GWAS Ancestry-Specific Results for Insomnia Disorder with suggestive results at p<10-6 in Soldiers of Latino Ancestry	Insomnia Disorder	Genome
1838	29520036	9606	Blood	DSM-5	Case-control based	NA	Genotyping	Table 2b NSS1, NSS2 and PPDS GWAS Ancestry-Specific Results for Insomnia Disorder at genome-wide significance p<5<U+00C3>—10-8 (in bold) and suggestive results at p<10-6 in Soldiers of African Ancestry	Insomnia Disorder	Genome
1839	29520036	9606	Blood	DSM-5	Case-control based	NA	Genotyping	Insomnia associated loci may contribute to the genetic risk underlying a range of health conditions including psychiatric disorders and metabolic disease.(Table 2a NSS1, NSS2 and PPDS GWAS Ancestry-Specific Results for Insomnia Disorder at genome-wide significance p<5<U+00C3>—10-8 (in bold) and suggestive results at p<10-6 in Soldiers of European Ancestry)	Insomnia Disorder	Genome
1840	29520040	9606	NA	Test performance	Case-control based	GWAS//Meta-analysis//UK BiLEVE Axiom Array//Illumina Infinium OmniExpress	GWAS//Meta-analysis//UK BiLEVE Axiom Array//Illumina Infinium OmniExpress	We integrate results from genome-wide association studies (GWAS) of intelligence with brain tissue and single cell gene expression data to identify tissues and cell types associated with intelligence. GWAS data for IQ (N = 78 308) were meta-analyzed with a study comparing 1 247 individuals with mean IQ ~170 to 8 185 controls.	Intellectual Disability	Genome
1841	29525350	9606	NA	DSM-IV	Case-control based	Illumina HumanLinkage-24 BeadChip	Illumina HumanLinkage-24 BeadChip	We assessed 619 individuals from the Central Valley of Costa Rica (CVCR) who have received evaluation for anxiety following the same methodological procedure used for the initial pilot study. Our goal was to conduct a multipoint quantitative trait linkage analysis to identify quantitative trait loci (QTLs) related to anxiety trait in subjects with BPI. We conducted the statistical analyses using Quantitative Trait Loci method (Variance-components models), implemented in Sequential Oligogenic Linkage Analysis Routines (SOLAR), using 5606 single nucleotide polymorphism (SNPs).	Bipolar I Disorder	Genome
1842	29529098	9606	Blood	NA	Family based	NA	Genotyping	The rs1060120 A allele significantly reduced luciferase expression, indicating a stronger interaction with miR-616 than the G allele (p=0.000412).	Schizophrenia	Genome
1843	29609622	9606	Blood		Case Report	aCGH	aCGH	Comparative genomic hybridization-array analysis highlighted a 600kb deletion in 16p11.2 region.	Global Developmental Delay	Genome
1844	29609622	9606	Blood		Case Report	aCGH	aCGH	Comparative genomic hybridization-array analysis highlighted a 600kb deletion in 16p11.2 region.	Intellectual Disability	Genome
1845	29609622	9606	Blood	NA	Case Report	aCGH	aCGH	Comparative genomic hybridization-array analysis highlighted a 600kb deletion in 16p11.2 region.	Global Developmental Delay	Genome
1846	29609622	9606	Blood	NA	Case Report	aCGH	aCGH	Comparative genomic hybridization-array analysis highlighted a 600kb deletion in 16p11.2 region.	Intellectual Disability	Genome
1847	29631748	9606	Blood	Others	Case-control based	Illumina Multi-ethnic Global Array	Illumina Multi-ethnic Global Array	By examining more than 6,000 participants in a large biobank, we identified a locus associated with Delirium liability at a standard genome-wide threshold, as well as five other loci meriting further investigation.	Delirium	Genome
1848	29700475	9606	NA	DSM-IV//ICD-9//ICD-10	Case-control based	Meta-analysis	Meta-analysis	We conducted a genome-wide association (GWA) meta-analysis based in 135,458 cases and 344,901 control, We identified 44 independent and significant loci.	Major Depressive Disorder	Genome
1849	29724491	9606	NA	Clinical geneticist-confirmed diagnosis	Case-control based	NGS//WES//Sanger Sequencing	NGS//WES//Sanger Sequencing	ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents. We show that individuals with mutations in ADNP have many overlapping clinical features that are distinctive from those of other autism and/or intellectual disability syndromes.	Intellectual Disability	Genome
1850	29724491	9606	NA	Clinical geneticist-confirmed diagnosis	Case report	NGS//WES//Sanger Sequencing	NGS//WES//Sanger Sequencing	Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP	Neurodevelopmental Disorders	Genome
1851	29728651	9606	NA	DSM-IV	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	Our study identified three novel risk loci (6q16.2, 12q24.31, and 16p13.3) for MDD and suggested that FBXL4 and RSRC1 may play a role in MDD.	Major Depressive Disorder	Genome
1852	29753921	9606	NA	Clinical diagnosis	Case report	ES//Sanger Sequencing	ES//Sanger Sequencing	Here, we identified a novel de novo frame-shift variant, c.2422_2423delAAinsT which predicts p.(Lys808TyrfsTer40), in ASH1L in a patient with multiple congenital anomalies (MCA), fine motor developmental delay, learning difficulties, attention deficit hyperactivity disorder, sleep apnea, and scoliosis. This frame-shift variant is expected to result in loss-of-function.	Attention-Deficit/Hyperactivity Disorder	Genome
1853	29787821	9606	Blood	Others	Case report	Illumina NextSeq500	Illumina NextSeq500	SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations	Delirium	Genome
1854	29858598	9606	Blood//Saliva	Others	Case-control based//Family based	GWAS//Meta-analysis	GWAS//Meta-analysis	Supplementary Table 1: SNPs associated with aggressive behaviours in GWAS. Selected 2,143 signals by significance.	Aggressive Behaviors	Genome
1855	29895895<U+00A0>	9606	NA	DSM-V//DSM-IIIR	Case report	Illumina HiSeq2000//Sanger Sequencing	Illumina HiSeq2000//Sanger Sequencing	Our COS study illustrates the interest of stratifying a complex condition according to the age of onset for the identification of deleterious variants. Whereas ATP1A3 is a replicated gene in rare neuropediatric diseases, this gene has previously been linked with COS in only one case report. The association with rare variants in FXYD gene family is novel and highlights the interest of exploring these genes in COS as well as in pediatric neurodevelopmental disorders.	Schizophrenia	Genome
1856	29942042	9606	Cell lines(lymphoblast)	Others	Case-control based	GWAS	GWAS	Between GWAS’s inception and March 2017, the GWAS Catalog has collected 2,430 studies, 1,818 phenotypes, and 28,462 associated SNPs. We reclassified the psychology-related phenotypes into 198 reclassified phenotypes, which accounted for 472 studies and 6,632 SNPs. In total, 1,109 of the SNPs reached genome-wide significance. We summarizes the cross-phenotype SNPs and their associated phenotypes, with the phenotypes that were later transformed into reclassified phenotypes listed under the name of the reclassified phenotypes.	Schizophrenia	Genome
1857	29942085	9606	Blood	EPQ-RS	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	Supplementary Table 1: SNPs associated with aggressive behaviours in GWAS. Selected 2,143 signals by significance.	Schizophrenia	Genome
1858	29947313	9606	Brain	Others	Case-control based	GWAS	GWAS	Table1 Significant variants associated with obsessive–compulsive disorder risk when conditioning on brain volume genome-wide association studies	Obsessive Compulsive Disorder	Genome
1859	29961568	9606	NA	Clinical diagnosis	Family based	WES//WGS	WES//WGS	In this study, we used NGS approaches to identify three de novo variants in WAS protein family member 1 (WASF1 [MIM: 605035]), which encodes WASF1 (also known as WAVE1), in five unrelated individuals with overlapping neurodevelopmental abnormalities, including severe ID with autistic features and seizures.	Intellectual Disability	Genome
1860	30003630	9606	Blood	Questionnaire//Clinical interview	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	Supplemental Table S3: Top 100 SNPs in the discovery meta-analysis.	Cannabis Use Disorder	Genome
1861	30014507	9606	NA	Clinical diagnosis	Case report	ES//Array CNV Analysis	ES//Array CNV Analysis	In this study, we describe how trio-exome sequencing and array CNV (copy number variation) analysis led to the identification of causative heterozygous null-allele variants in CUX1 in 9 individuals with DD, with 3 showing normal age-related intellect after a history of DD in early childhood. We demonstrate that heterozygous, null-allele variants in CUX1 cause a spectrum of DD and ID, probably attributed to haploinsufficiency.	Intellectual Disability	Genome
1862	30032983	9606	Blood	Others	Family based	WES//RT-PCR//in situ hybridization	WES//RT-PCR//in situ hybridization	Here, we describe three affected children (from two consanguineous families) who carry homozygous loss-of-function mutations in LNPK (previously known as KIAA1715); this gene encodes lunapark, which is proposed to serve as a curvature-stabilizing protein within tubular three-way junctions of the ER. All individuals presented with severe psychomotor delay, intellectual disability, hypotonia, epilepsy, and corpus callosum hypoplasia.	Intellectual Disability	Genome
1863	30047142	9606	Blood	DSM-IV	Case-control based	Genotyping	Genotyping	Case/control association studies on gene polymorphisms involved in folate and folate-related pathways. Studies carried out on neurodevelopmental disorders are reported	Attention-Deficit/Hyperactivity Disorder	Genome
1864	30050107	9606	Brain	Others	Case-control based	Illumina HiSeq2000//Illumina HumanHap//Illumina Human 1M-Duo//Illumina Omni5	Illumina HiSeq2000//Illumina HumanHap//Illumina Human 1M-Duo//Illumina Omni5	GWAS-significant index variants and eQTL associations, for those GWAS loci associating with only one or two genes following conditional analysis.	Schizophrenia	Genome
1865	30050107	9606	Brain	Others	Case-control based	GWAS	GWAS	GWAS-significant index variants and eQTL associations, for those GWAS loci associating with only one or two genes following conditional analysis.	Schizophrenia	Genome
1866	30057029	9606	NA	Diagnostic test	Case report	Illumina HiSeq2500//microarray	Illumina HiSeq2500//microarray	Through exome sequencing and world-wide collaborations, we identified and assembled 20 individuals with de novo variants in FBXO11. We implicate de novo missense and likely gene disrupting variants in FBXO11 in a neurodevelopmental disorder with variable intellectual disability and various other features.	Neurodevelopmental Disorders	Genome
1867	30079586	9606	Blood//Saliva	DSM-IV	Case-control based	TaqMan SNP Genotyping Assay//Neuroimaging analysis	TaqMan SNP Genotyping Assay//Neuroimaging analysis	CACNA1C-rs1006737 and ZNF804A-rs1344706 polymorphisms are among the most robustly associated with schizophrenia (SCZ) and bipolar disorder (BD), and recently with brain phenotypes. As these patients show abnormal verbal fluency (VF) and related brain activation, we asked whether the latter was affected by these polymorphisms (alone and in interaction)-to better understand how they might induce risk.	Bipolar Disorder	Genome
1868	30087453	9606	NA	Others	Case-control based	Meta-analysis	Meta-analysis	The most prominent signal that was driven by both AN and OCD lies near the MHC (index SNP rs75063949, chr6:25591041 in LRRC16A (Figure S1).	Anorexia Nervosa	Genome
1869	30104601	9606	Blood	ICD-10//DSM-IV//MADRS//HDRS//BDI	Case-control based	Illumina Human610-quad Bead Chip	Illumina Human610-quad Bead Chip	We conducted a genome-wide association study (GWAS) followed by investigation of biological pathway enrichment using an anhedonia dimension for 759 patients with MDD in the GENDEP study. The GWAS identified 18 SNPs associated at genome-wide significance	Major Depressive Disorder	Genome
1870	30116028	9606	Blood	DSM-IV	Case-control based//Family based	Affymetrix Genome-Wide Human SNP Array 6.0//5500xl SOLiD	Affymetrix Genome-Wide Human SNP Array 6.0//5500xl SOLiD	Linkage analyses revealed four genomic regions with a LOD score ≥3.3 and 15 additional regions with a LOD score ≥2. Within these regions, we identified 38 rare variants within 25 genes across the three families. All genes together, and particularly the gene-set from family P2, were significantly associated with persistent ADHD in the independent exome-chip sample. Moreover, the AAED1 gene reached gene-wide significance in that sample, and a rare variant in AAED1 (rs151326868) segregated with ADHD in family P2.	Attention-Deficit/Hyperactivity Disorder	Genome
1871	30122539	9606	NA	Diagnostic test	Case report	Microarray//WES	Microarray//WES	Here we report four unrelated individuals harboring potentially pathogenic CCNK changes with de novo inheritance. We reported a syndromic neurodevelopmental disorder with DD/ID and facial characteristics caused by CCNK variations, possibly through a mechanism of haploinsufficiency.	Neurodevelopmental Disorders	Genome
1872	30150663	9606	NA	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	In the largest genome-wide association study (GWAS) for lifetime cannabis use to date (N = 184,765), we identified eight genome-wide significant independent single nucleotide polymorphisms in six regions. All measured genetic variants combined explained 11% of the variance. Gene-based tests revealed 35 significant genes in 16 regions, and S-PrediXcan analyses showed that 21 genes had different expression levels for cannabis users versus nonusers. The strongest finding across the different analyses was CADM2, which has been associated with substance use and risk-taking.	Cannabis Use Disorder	Genome
1873	30215811	9606	Blood	IRLSSG	Case-control based	GWAS//TaqMan	GWAS//TaqMan	In conclusion, our data confirms that MEIS1 is a genetic risk factor for the development of RLS, but it does not support the pleiotropic effect of MEIS1 in CID.	Restless Legs Syndrome	Genome
1874	30252935	9606	Blood//Saliva//Cell lines(immortalized lymphoblastoid)	DSM-IV	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	Risk Locus Identification Ties Alcohol Withdrawal Symptoms to SORCS2	Alcohol Use Disorder	Genome
1875	30256902	9606	Blood(Leukocytes)	Others	Case-control based	Illumina HiSeq2000//Illumina HiSeq2500//Immunoprecipitation//Electrophysiological	Illumina HiSeq2000//Illumina HiSeq2500//Immunoprecipitation//Electrophysiological	West syndrome is a typical infantile spasm that occurs in the first year of life. West syndrome is characterized by a triad of epileptic spasms, often in clusters, arrest of psychomotor development or intellectual disability and an interictal EEG pattern termed hypsarrhythmia. In the present study, we have identified two unreported mutations in PHACTR1 occurring de novo in distinct individuals with West syndrome.	Intellectual Disability	Genome
1876	30256902	9606	Blood(Leukocytes)	Others	Family based	Illumina HiSeq2000//Illumina HiSeq2500//Immunoprecipitation//Electrophysiological	Illumina HiSeq2000//Illumina HiSeq2500//Immunoprecipitation//Electrophysiological	West syndrome is a typical infantile spasm that occurs in the first year of life. West syndrome is characterized by a triad of epileptic spasms, often in clusters, arrest of psychomotor development or intellectual disability and an interictal EEG pattern termed hypsarrhythmia. In the present study, we have identified two unreported mutations in PHACTR1 occurring de novo in distinct individuals with West syndrome.	Neurodevelopmental Disorders	Genome
1877	30279459	9606	Brain	Others	Case-control based	GWAS//Genotyping	GWAS//Genotyping	Further comparison with GWAS catalogues showed significant enrichment of AD-related genes for whole hippocampal volume, the hippocampal tail showed enrichment for schizophrenia-related genes and the molecular layer was enriched for inflammatory bowel disease.	Schizophrenia	Genome
1878	30297702	9606	Blood	Others	Family based	Meta-analysis//RT-qPCR	Meta-analysis//RT-qPCR	A rare loss-of-function splice-site SNP (rs41283526*G) in a minor isoform of ANK3 (incorporating exon ENSE00001786716) was recently identified as protective of bipolar disorder and schizophrenia. This suggests that an elevated expression of this isoform may be involved in the etiology of the disorders. In this study, we used novel approaches and data sets to test this hypothesis. First, we strengthen the statistical evidence supporting the allelic association by replicating the protective effect of the minor allele of rs41283526 in three additional large independent samples (meta-analysis p-values: 6.8E-05 for bipolar disorder and 8.2E-04 for schizophrenia).	Bipolar Disorder	Genome
1879	30379966	9606	Blood	DSM-IV	Family based	Illumina HiSeq2500//Sanger Sequencing	Illumina HiSeq2500//Sanger Sequencing	The present study investigated the role of rare, nonsynonymous, and potentially functional variants via whole exome sequencing in 15 BD cases from two large, multiply affected families from Cuba.	Bipolar Disorder	Genome
1880	30397230	9606	Cell lines(HEK293)	Others	Case report	GS//ES//Immunofluorescence	GS//ES//Immunofluorescence	We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children with rare speech disorders. To gain a comprehensive view of features associated with disruption of this gene, we use a genotype-driven approach, collecting and characterizing 35 individuals with de novo CHD3 mutations and overlapping phenotypes.	Intellectual Disability	Genome
1881	30397230	9606	Cell lines(HEK293)	Others	Case report	Illumina HiSeq X Ten	Illumina HiSeq X Ten	We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children with rare speech disorders. To gain a comprehensive view of features associated with disruption of this gene, we use a genotype-driven approach, collecting and characterizing 35 individuals with de novo CHD3 mutations and overlapping phenotypes.	Intellectual Disability	Genome
1882	30401460	9606	Skin biopsies//Blood(leukocytes)	Clinical diagnosis	Case report	WES//TaqMan//live-cell imaging	WES//TaqMan//live-cell imaging	Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay	Global Developmental Delay	Genome
1883	30406846	9606	Blood	DSM-IV//PSQ	Case-control based	Sequenom MassARRAY	Sequenom MassARRAY	Finally, after validation in an independent sample (284 cases and 390 controls), we observed significant associations between LPHN3 variants rs1868790 and ADHD risk in combined stage within codominant model [TA/AA: OR (95% CI) = 1.636 (1.325-2.021)], dominant model [OR (95% CI) = 1.573 (1.288-1.922)], and additive model [OR (95% CI) = 1.535 (1.266-1.862)]	Attention-Deficit/Hyperactivity Disorder	Genome
1884	30448004	9606	NA	McKeith criteria	Case-control based	Illumina HumanOmni2.5 Array//Illumina Infinium OmniExpress	Illumina HumanOmni2.5 Array//Illumina Infinium OmniExpress	To our knowledge, this is the first study reporting genome-wide CNVs in a large DLB cohort. These results provide preliminary evidence for the contribution of CNVs in DLB risk.	Neurocognitive Disorder With Lewy Bodies	Genome
1885	30467376	9606	Saliva	DSM-IV-TR	Case-control based	Affymetrix Human SNP Array 6.0	Affymetrix Human SNP Array 6.0	Here, a GWAS was conducted in N = 924 Northern Ugandan rebel war survivors and identified seven suggestively significant single nucleotide polymorphisms (SNPs; p ≤ 1 × 10 5) for lifetime PTSD risk.	Posttraumatic Stress Disorder	Genome
1886	30474181	9606	Blood//Saliva	ICD-10	Case-control based	TaqMan//Meta-analysis	TaqMan//Meta-analysis	Meta-analyzing our data including previously published cADHD studies, association of LRP5 intronic rs4988319 and rs3736228 (Ala1330Val) with cADHD was observed among girls (OR=1.80 with 95% CI=1.07–3.02, p=0.0259; and OR=2.08 with 95% CI=1.01–4.46, p=0.0026, respectively), whereas in boys association between LRP6 rs2302685 (Val1062Ile) and cADHD was present (OR=1.66, CI=1.20–2.31, p=0.0024). In the PGC-ADHD dataset (using pooled data of cADHD and adults) tendency of associations were observed only among females with OR=1.09 (1.02–1.17) for LRP5 rs3736228 and OR=1.18 (1.09–1.25) for LRP6 rs2302685. Together, our findings suggest a potential sex-specific link of cADHD with LRP5 and LRP6 gene variants, which could contribute to the differences in brain maturation alterations in ADHD affected boys and girls, and suggest possible therapy targets.	Attention-Deficit/Hyperactivity Disorder	Genome
1887	30478444	9606	NA	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	We report a genome-wide association meta-analysis of 20,183 individuals diagnosed with ADHD and 35,191 controls that identifies variants surpassing genome-wide significance in 12 independent loci, finding important new information about the underlying biology of ADHD.	Attention-Deficit/Hyperactivity Disorder	Genome
1888	30481216	9606	NA	CHART-DEL// MMSE -2 BV	Case-control based	Illumina GoldenGate	Illumina GoldenGate	This observation suggests a role of the risk genotype of a melatonin receptor 1B polymorphism in the development of postoperative Delirium.	Delirium	Genome
1889	30482948	9606	NA	DSM-IV	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	The trans-ancestral discovery meta-analysis of GWAS of AD in 28 cohorts (Table 1; Supplementary Table S1) identified a genome-wide significant (GWS; p < 5E-8) association in the ADH gene cluster on chromosome 4 (Figure 1; Table 2).	Alcohol Use Disorder	Genome
1890	30521946	9606	Blood	DSM-V	Case-control based	TaqMan//Western Blotting//PCR	TaqMan//Western Blotting//PCR	Several risk genes for BD have been identified; of these, the purinergic P2 × 7 receptor (P2 × 7R) constitutes a pro-inflammatory receptor and a potential risk gene candidate. The purpose of the present study was to assess the frequency of the 1513 A > C P2RX7 polymorphism (rs3751143; Glu496Ala), which leads to receptor loss-of-function, in 154 BD patients versus 184 control subjects.	Bipolar Disorder	Genome
1891	30526862	9606	NA	Clinical diagnosis	Family based	ES//qPCR	ES//qPCR	We describe six persons from three families with three homozygous protein truncating variants in PUS7. All these individuals have intellectual disability with speech delay, short stature, microcephaly, and aggressive behavior.	Intellectual Disability	Genome
1892	30526868	9606	NA	Others	Family based	SNP Microarray//WES//WGS//CRISPR	SNP Microarray//WES//WGS//CRISPR	In this study, we describe ten similarly affected individuals from six unrelated families of different ethnic origins having bi-allelic truncating variants in TMEM94, which encodes for an uncharacterized transmembrane nuclear protein that is highly conserved across mammals. The affected individuals manifested with global developmental delay/intellectual disability.	Neurodevelopmental Disorders	Genome
1893	30531795	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY	Sequenom MassARRAY	In the present study, we have recruited 1146 BPD cases and 1956 controls from Mainland China for genetic analyses, as well as 65 Han Chinese brain amygdala tissues for mRNA expression analyses. Using this clinical sample, one of the largest Han Chinese BPD samples till now, we have conducted replication analyses of 21 single nucleotide polymorphisms (SNPs) extracted from previous GWAS of distinct populations.	Bipolar Disorder	Genome
1894	30531795	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY/	Sequenom MassARRAY/	In the present study, we have recruited 1146 BPD cases and 1956 controls from Mainland China for genetic analyses, as well as 65 Han Chinese brain amygdala tissues for mRNA expression analyses. Using this clinical sample, one of the largest Han Chinese BPD samples till now, we have conducted replication analyses of 21 single nucleotide polymorphisms (SNPs) extracted from previous GWAS of distinct populations.	Bipolar Disorder	Genome
1895	30531907	9606	Blood	Others	Family based	WES//Sanger Sequencing//Western blotting	WES//Sanger Sequencing//Western blotting	Ubiquitin-conjugating enzymes (E2) enable protein ubiquitination by conjugating ubiquitin to their catalytic cysteine for subsequent transfer to a target lysine sidechain. Deprotonation of the incoming lysine enables its nucleophilicity, but determinants of lysine activation remain poorly understood. We report a novel pathogenic mutation in the E2 UBE2A, identified in two brothers presenting mild intellectual disability.	Intellectual Disability	Genome
1896	30531935	9606	Blood	Others	Case-control based	GWAS	GWAS	Fragile×syndrome is rare but a prominent cause of intellectual disability. We conducted GWA analyses for 750K SNPs in 89 male FXS cases and 266 male controls. Logistic regression analyses identified five SNPs that met genome-wide significance with odds ratios > 5.	Intellectual Disability	Genome
1897	30531935	9606	Blood	Others	Case-control based	TaqMan//Illumina HumanOmni1-Quad Array	TaqMan//Illumina HumanOmni1-Quad Array	Fragile×syndrome is rare but a prominent cause of intellectual disability. We conducted GWA analyses for 750K SNPs in 89 male FXS cases and 266 male controls. Logistic regression analyses identified five SNPs that met genome-wide significance with odds ratios > 5.	Intellectual Disability	Genome
1898	30532020	9606	NA	Others	Case-control based	Illumina Infinitium Human 610K//Illumina HiSeq×Ten	Illumina Infinitium Human 610K//Illumina HiSeq×Ten	Our results suggest that genomic variation may disrupt retinoid signalling in schizophrenia, with particular significance for cases with severe cognitive impairment.	Schizophrenia	Genome
1899	30545852	9606	Blood	Others	Family based	WGS	WGS	Using WGS, we identified 255,106 de novo mutations among sample genomes from members of 1902 quartet families in which one child, but not a sibling or their parents, was affected by autism spectrum disorder (ASD).	Autism Spectrum Disorder	Genome
1900	30580808	9606	NA	Clinical diagnosis	Family based	WES	WES	SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role in embryogenesis and corticogenesis. We report 15 unrelated individuals with variants in SMARCC2.	Neurodevelopmental Disorders	Genome
1901	30595372	9606	NA	Clinical diagnosis	Case-control based	WES	WES	Here, we report that de novo mutations in PPP2CA, encoding the PP2A catalytic Cα subunit, cause an ID and DD syndrome phenotypically characterized by mild to severe ID and DD, behavioral problems, variable types of epilepsy, hypotonia, and structural brain abnormalities.	Intellectual Disability	Genome
1902	30595372	9606	NA	Clinical diagnosis	Case-control based	WES	WES	Type 2A protein phosphatases (PP2As) are highly expressed in the brain and regulate neuronal signaling by catalyzing phospho-Ser/Thr dephosphorylations in diverse substrates. PP2A holoenzymes comprise catalytic C-, scaffolding A-, and regulatory B-type subunits, which determine substrate specificity and physiological function. Interestingly, de novo mutations in genes encoding A- and B-type subunits have recently been implicated in intellectual disability (ID) and developmental delay (DD). We now report 16 individuals with mild to profound ID and DD and a de novo mutation in PPP2CA, encoding the catalytic Cα subunit.	Neurodevelopmental Disorders	Genome
1903	30610197	9606	Blood//Brain	Others	Case-control based	GWAS	GWAS	Here, we combined large genome-wide association study data on SCZ (n=82,315), BD (n=51,710) and general intelligence (n=269,867) to investigate overlap in common genetic variants using conditional false discovery rate (condFDR) analysis. We observed substantial genetic enrichment in both SCZ and BD conditional on associations with intelligence indicating polygenic overlap.	Bipolar Disorder	Genome
1904	30610197	9606	Blood//Brain	Others	Case-control based	GWAS	GWAS	To increase statistical power, we leveraged this pleiotropic enrichment using condFDR analysis and re-ranked SCZ and BD SNPs conditional on their association with intelligence, and vice versa. At condFDR<0.01, we identified 236 loci associated with SCZ and 48 loci associated with BD conditional on their association with intelligence.	Schizophrenia	Genome
1905	30626913	9606	NA	Others	Case-control based	GWAS	GWAS	We hypothesized that bivariate analyses of findings from a meta-analysis of genome-wide association studies (meta-GWASs) of the broad depression phenotype with those from meta-GWASs of self-reported and recurrent major depressive disorder (MDD), bipolar disorder and schizophrenia would enhance statistical power to identify novel genetic loci for depression.	Bipolar Disorder	Genome
1906	30626913	9606	NA	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	Although a genetic basis of depression has been well established in twin studies, identification of genome-wide significant loci has been difficult. We hypothesized that bivariate analyses of findings from a meta-analysis of genome-wide association studies (meta-GWASs) of the broad depression phenotype with those from meta-GWASs of self-reported and recurrent major depressive disorder (MDD), bipolar disorder and schizophrenia would enhance statistical power to identify novel genetic loci for depression.	Major Depressive Disorder	Genome
1907	30626913	9606	NA	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	In this study, we conducted four consecutive bivariate meta-analyses combining our recent meta-GWAS on the broad depression phenotype (depressive symptoms combined with MDD diagnosis) with recent meta-GWASs on self-reported MDD, recurrent MDD, bipolar disorder and schizophrenia with the aim to identify novel genetic variants for depression.	Schizophrenia	Genome
1908	30635639	9606	Brain	Others	Case-control based	RNA-seq	RNA-seq	As further validation, expression levels of the ten features were quantitated in 49 GTEx tissues, and each feature showed similar expression across tissues.In summary, we have identified SNX19 as the primary risk gene for schizophrenia in region 11q25.	Schizophrenia	Genome
1909	30639322	9606	NA	Others	Case-control based	WES//WGS//Sanger Sequencing	WES//WGS//Sanger Sequencing	ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1.	Intellectual Disability	Genome
1910	30661772	9606	Brain	Others	Case-control based	ES//RNA-seq	ES//RNA-seq	SOX4, together with SOX11 and SOX12, forms group C of SRY-related (SOX) transcription factors. They play key roles, often in redundancy, in multiple developmental pathways, including neurogenesis and skeletogenesis. Using trio-based exome sequencing, we here identify de novo SOX4 heterozygous missense variants in four children who share developmental delay, intellectual disability, and mild facial and digital morphological abnormalities. SOX4 is highly expressed in areas of active neurogenesis in human fetuses.	Intellectual Disability	Genome
1911	30670685	9606	Blood	DSM-IV//DSM-V	Case-control based	Genotyping//RT-qPCR//ChIP-seq//EMSA//dual-luciferase assays	Genotyping//RT-qPCR//ChIP-seq//EMSA//dual-luciferase assays	This study aimed to investigate whether ZNF804A genetic variants contribute to ASD susceptibility and its possible pathological role in the disorder.	Autism Spectrum Disorder	Genome
1912	30675382	9606	Blood(Leukocytes)	ICD-10	Case-control based//Family based	WES//Illumina Infinium Omni5-4 BeadChip	WES//Illumina Infinium Omni5-4 BeadChip	Our analysis supports the role of several genes/loci associated with autism (e.g., NRXN1, ADNP, 22q11 deletion) and identified new truncating (e.g., GRIK2, ROBO1, NINL, and IMMP2L) or recessive deleterious variants (e.g., KIRREL3 and CNTNAP2) affecting autism-associated genes. It also revealed three genes involved in synaptic plasticity, RIMS4, KALRN, and PLA2G4A, carrying de novo deleterious variants in individuals with autism without intellectual disability.	Autism Spectrum Disorder	Genome
1913	30679740	9606	NA	ICD-10	Case-control based	Affymetrix UK BiLEVE Axiom Array//Affymetrix UK Biobank Axiom Array	Affymetrix UK BiLEVE Axiom Array//Affymetrix UK Biobank Axiom Array	Here, we prove that genetic risk factors associated with SZ, at least from the risk conferred by CNVs as opposed to common variants, are significantly associated with anatomical brain markers.	Schizophrenia	Genome
1914	30705256	9606	Saliva	Others	Case-control based	Illumina HumanCore-12 Custom BeadChip//Illumina HumanCore-24 Custom BeadChip	Illumina HumanCore-12 Custom BeadChip//Illumina HumanCore-24 Custom BeadChip	The first large-scale GWAS for psychological distress using data from direct-to-consumer (DTC) genetic tests in a population of non-European-ancestry, and the present study thus detected a novel locus significantly associated with psychological distress in the Japanese population.	Major Depressive Disorder	Genome
1915	30707907	9606	NA	SNAP-IV	Case-control based	Sequenom MassARRAY	Sequenom MassARRAY	We found an association of the NR3C1 rs6191 SNP and the SLCA4 rs25531 SNP with ADHD in children. Moreover, there existed an interaction between the rs6191 and rs25531 SNPs. These findings still need to be independently replicated in multicenter studies with large samples and in vitro functional experiments for biological function identification are warranted in the future.	Attention-Deficit/Hyperactivity Disorder	Genome
1916	30711865	9606	Saliva	DSM-IV //CTQ	Case-control based	Genotyping//TaqMan	Genotyping//TaqMan	BPD is associated with FKBP5 polymorphisms and several types of childhood abuse may modulate the effect between FKBP5 SNPs and this disorder.	Borderline Personality Disorder	Genome
1917	30719257	9606	Blood	DSM-IV	Case-control based	PCR-RFLP	PCR-RFLP	We aimed to estimate the role of two talent genes: DAOA in neurotransmission of glutamate and COMT in neurotransmission of dopamine to guide the treatment of schizophrenia and bipolar disorder.	Bipolar Disorder	Genome
1918	30724859	9606	Blood//Saliva//Buccal swabS	Others	Case report	aCGH//RT-PCR	aCGH//RT-PCR	In this report, we describe the case of a 14-year-old female Italian proband affected by ASD, carrying a novel ~ 270 kb interstitial microduplication, localized at the distal portion of the 4q13.1 region.	Autism Spectrum Disorder	Genome
1919	30737407	9606	Blood//Brain	Others	Case-control based	GWAS//ChIP-seq	GWAS//ChIP-seq	Here we systematically investigate the gene regulatory mechanisms underpinning schizophrenia risk through integrating data from functional genomics (including 30 ChIP-Seq experiments) and position weight matrix (PWM). We identify 132 risk single nucleotide polymorphisms (SNPs) that disrupt transcription factor binding and we find that 97 of the 132 TF binding-disrupting SNPs are associated with gene expression in human brain tissues.	Schizophrenia	Genome
1920	30741946	9606	NA	Others	Case-control based//Family based	Illumina HumanHap//Illumina OmniExpress Human CoreExome//Illumina BeadChips//Meta-analysis	Illumina HumanHap//Illumina OmniExpress Human CoreExome//Illumina BeadChips//Meta-analysis	Table3 Most significant single-variant associations (p < 1 × 10 7) detected in the univariate GWAS analyses	Developmental Dyslexia	Genome
1921	30744588	9606	Blood	DSM-IV	Case-control based	Sanger Sequencing//rs-fMRI	Sanger Sequencing//rs-fMRI	A single-nucleotide polymorphism at the CACNB2 gene (rs11013860) has been reported in genome-wide association studies to be associated with bipolar disorder (BD). However, the neural effects of rs11013860 expression are unknown. Thus, the current study investigated the mechanisms of how the CACNB2 gene influences hippocampal-cortical limbic circuits in patients with bipolar disorder (BD).	Bipolar Disorder	Genome
1922	30771789	9606	Brain//Blood	Others	Case-control based	GWAS//RNA-seq	GWAS//RNA-seq	Table1 Top MDD-associated genes predicted by Sherlock integrative analysis.	Major Depressive Disorder	Genome
1923	30771789	9606	Brain//Blood	Others	Case-control based	GWAS//RNA-seq//qPCR	GWAS//RNA-seq//qPCR	Table1 Top MDD-associated genes predicted by Sherlock integrative analysis.	Major Depressive Disorder	Genome
1924	30772743	9606	NA	DSM-IV	Case-control based	Illumina HiSeq2000//Illumina HiSeq2500//Illumina HiSeq4000	Illumina HiSeq2000//Illumina HiSeq2500//Illumina HiSeq4000	We sequenced whole-exomes in 53 patients with BD and 82 healthy control participants at an initial discovery stage and investigated the impacts of SNVs in risk genes from WES analysis on the cortical gray-matter thickness and integrity of white matter tracts.	Bipolar Disorder	Genome
1925	30804558	9606	Blood	ICD-10	Case-control based//Family based	Meta-analysis	Meta-analysis	With a marked sample size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 ASD cases and 27,969 controls that identifies five genome-wide significant loci.	Autism Spectrum Disorder	Genome
1926	30804566	9606	Blood//Saliva//Urine	Others	Case-control based	GWAS//Affymetrix Array	GWAS//Affymetrix Array	Here we identify 57 loci for self-reported insomnia symptoms in the UK Biobank (n = 453,379) and confirm their impact on self-reported insomnia symptoms in the HUNT study	Insomnia Disorder	Genome
1927	30819258	9606	NA	Others	Family based	Illumina//CMA	Illumina//CMA	To date, a few de novo mutations potentially disrupting TCF20 function in patients with ID, ASD, and hypotonia have been reported. TCF20 encodes a transcriptional co-regulator structurally related to RAI1, the dosage-sensitive gene responsible for Smith–Magenis syndrome and Potocki–Lupski syndrome. We report 25 unique inactivating single nucleotide variants/indels and 4 deletions of TCF20.	Intellectual Disability	Genome
1928	30827496	9606	NA	Others	Case-control based	ES	ES	TRRAP is evolutionarily conserved and is among the top five genes intolerant to missense variation. Through an international collaboration, 17 distinct de novo or apparently de novo variants were identified in TRRAP in 24 individuals. A strong genotype-phenotype correlation was observed with two distinct clinical spectra. The first is a complex, multi-systemic syndrome. The second spectrum manifested with autism spectrum disorder (ASD) and/or ID and epilepsy.	Intellectual Disability	Genome
1929	30827498	9606	NA	Others	Case-control based	ES//WGS	ES//WGS	Polyglutamine expansions in the transcriptional co-repressor Atrophin-1, encoded by ATN1, cause the neurodegenerative condition dentatorubral-pallidoluysian atrophy (DRPLA) via a proposed novel toxic gain of function. We present detailed phenotypic information on eight unrelated individuals who have de novo missense and insertion variants within a conserved 16-amino-acid “HX repeat” motif of ATN1. Each of the affected individuals has severe cognitive impairment.	Intellectual Disability	Genome
1930	30838730	9606	Blood//Buccal swabs	Others	Case report	WES//Sanger Sequencing//PCR	WES//Sanger Sequencing//PCR	Herein, we present a patient with a novel disease-causing ARID2 loss-of-function mutation. His clinical features included intellectual disability, coarse and dysmorphic facial features, toenail hypoplasia, ADHD, short stature, and delayed development consistent with prior reports.	Attention-Deficit/Hyperactivity Disorder	Genome
1931	30859703	9606	Blood//Saliva//Cell lines(HEK293)	ICD-10	Case-control based	PCR//Illumina	PCR//Illumina	A rare microcephalin 1 gene (MCPH1) variant rs61749465A>G (p.Asp61Gly) with prior evidence for association with schizophrenia (p=3.78x10-7) was tested for association in 2,300 bipolar disorder (BPD) participants, 1,930 SCZ participants and 1,820 normal comparison subjects. We report evidence for association of rs61749465A>G with BPD (P=0.0009).	Bipolar Disorder	Genome
1932	30874608	9606	NA	DSM-IV	Case-control based	Illumina//TaqMan//luciferase reporter assay//EMSA	Illumina//TaqMan//luciferase reporter assay//EMSA	In this report, in the first stage, we used a cost-effective pooled-sequencing strategy to sequence the entire HTR7 gene and its regulatory regions to investigate the association of common variants in HTR7 and clinical response to four selective serotonin reuptake inhibitors (SSRIs: citalopram, paroxetine, fluoxetine and sertraline) in a retrospective cohort mainly consisting of subjects with bipolar disorder (n=359).	Bipolar I Disorder	Genome
1933	30879638	9606	NA	Others	Case-control based	WES//WGS	WES//WGS	We identified nine DD- and/or ID-affected probands with a rare, heterozygous variant in the gene encoding the serine/threonine-protein kinase BRSK2. All probands have a speech delay, and most present with intellectual disability, motor delay, behavioral issues, and autism.	Intellectual Disability	Genome
1934	30879640	9606	NA	Others	Case-control based	Illumina HiSeq//Illumina NextSeq500//Sanger Sequencing	Illumina HiSeq//Illumina NextSeq500//Sanger Sequencing	Mutations in several genes encoding components of the SWI/SNF chromatin remodeling complex cause neurodevelopmental disorders (NDDs). Here, we report on five individuals with mutations in SMARCD1; the individuals present with developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet.	Intellectual Disability	Genome
1935	30879640	9606	NA	Others	Case-control based	Illumina HiSeq//Illumina NextSeq500//Sanger Sequencing	Illumina HiSeq//Illumina NextSeq500//Sanger Sequencing	Mutations in several genes encoding components of the SWI/SNF chromatin remodeling complex cause neurodevelopmental disorders (NDDs). Here, we report on five individuals with mutations in SMARCD1; the individuals present with developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet.	Neurodevelopmental Disorders	Genome
1936	30909162	9606	Blood	DSM-IV-TR	Case-control based	PCR//ABI PRISM	PCR//ABI PRISM	Here we studied the allelic distribution of this STR in bipolar disorder (BD) type I. The interval encompassing the human ZMYM3 STR complex was PCR-amplified and sequenced in 546 male subjects, consisting of 157 BD patients and 389 controls.	Bipolar I Disorder	Genome
1937	30929739	9606	NA	Others	Case-control based	ES	ES	We identified 17 individuals with heterozygous missense and truncating variants in KDM3B. The 17 individuals (9 females and 8 males) were all diagnosed with developmental delay (DD) or mild to moderate ID.	Intellectual Disability	Genome
1938	30929742	9606	Blood	Others	Case-control based	WES//Sanger Sequencing//SDS-PAGE	WES//Sanger Sequencing//SDS-PAGE	We then analyzed the genetic data from the SYNaPS Study Group collection of exomes and genomes from over 4,000 individuals affected with early-onset neurological disorders (including ～250 children with undiagnosed neurodevelopmental impairment and epilepsy) for variants in VAMP2。	Neurodevelopmental Disorders	Genome
1939	30929742	9606	Blood	Others	Case-control based	WES//Sanger Sequencing//SDS-PAGE	WES//Sanger Sequencing//SDS-PAGE	Here, we describe five unrelated individuals who had shown hypotonia since birth and who had intellectual disability (ID) with autistic features, including variable motor stereotypies resembling Rett syndrome (RTT), and, in some children, also central visual impairment, hyperkinetic movements, and epilepsy and/or electroencephalography (EEG) abnormalities.	Neurodevelopmental Disorders	Genome
1940	30930738	9606	NA	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We obtained genome wide association studies data from the International Genomics of Alzheimer’s Project part 1 (17,008 AD cases and 37,154 controls) and the Psychiatric Genetic Consortium Bipolar Disorder Working Group (20,352 BIP cases and 31,358 controls). We used conditional QQ-plots to assess overlap in common genetic variants between AD and BIP. We exploited the genetic overlap to re-rank test-statistics for AD and BIP and improve detection of genetic variants using the conditional FDR framework.	Bipolar Disorder	Genome
1941	30940813	9606	Blood	Others	Case-control based	Affymetrix Axiom Biobank Array//Meta-analysis	Affymetrix Axiom Biobank Array//Meta-analysis	We identify 18 genome-wide significant loci: 5 associated with both traits, 8 associated with AUDIT-C only, and 5 associated with AUD diagnosis only.	Alcohol Use Disorder	Genome
1942	30945334	9606	NA	Others	Case-control based	ES	ES	Here, we report on two recurrent de novo missense variants in MAPK8IP3 in 5 individuals from four families with neurodevelopmental symptoms, including spastic diplegia, intellectual disability, and corpus callosum hypoplasia.	Intellectual Disability	Genome
1943	30976917	9606	Blood	SNAP-IV//PSQ//IVA-CPT	Case-control based	Sequenom MassARRAY	Sequenom MassARRAY	Using a case-control study to explore the association between STX1A gene and children ADHD in Chinese Han population, our results suggest STX1A genetic variants might contribute to the susceptibility of children ADHD.	Attention-Deficit/Hyperactivity Disorder	Genome
1944	30988377	9606	Blood	CTQ//DSM-V//PCL-5//LEC	Case-control based	TaqMan//PCR//MRI	TaqMan//PCR//MRI	Influence of childhood trauma and brain-derived neurotrophic factor Val66Met polymorphism on posttraumatic stress symptoms and cortical thickness	Posttraumatic Stress Disorder	Genome
1945	31003785	9606	NA	ICD-10// DSM-IV	Case-control based	Meta-analysis	Meta-analysis	p values <.01 were observed for 15q11.2 duplications (TUBGCP5, CYFIP1, NIPA1, and NIPA2), deletions in or near PRKN or MSR1, and exonic duplications of ATG5.	Major Depressive Disorder	Genome
1946	31004399	9606	Blood	DSM-IV//AUDIT//OCDS//BIS-11//MMSE-K	Case-control based	Genotyping//SNaPShot	Genotyping//SNaPShot	However, OPRK1 SNP rs6473797 was significantly related to the severity of alcohol-related symptoms as measured by AUDIT and OCDS and a haplotype containing rs6473797 was also related to OCDS scores in AUD patients.	Alcohol Use Disorder	Genome
1947	31006512	9606	Cell lines（LCL）	Others	Case-control based	WES//Sanger Sequencing//In situ hybridization	WES//Sanger Sequencing//In situ hybridization	In summary, we describe nine affected individuals, from five families, who present with a syndrome involving a spectrum of developmental delay/intellectual disability, growth failure, microcephaly, hypogonadism, and additional, isolated abnormalities; this syndrome is associated with five different mutations in POLA1, which encodes the catalytic subunit of the DNA polymerase α-primase. The growth impairments were evident prenatally, suggesting an early origin in utero.	Intellectual Disability	Genome
1948	31031012	9606	Blood//Cell lines(iPSC//NPCs)	Others	Family based	Illumina HiSeq//CRISPR//Patch-clamp//Western Blotting//Immunofluorescence	Illumina HiSeq//CRISPR//Patch-clamp//Western Blotting//Immunofluorescence	In this study, we identified individuals with neurodevelopmental disorders with either inherited recessive mutations or dominantly acting de novo mutations in ACTL6B and sought to understand how mutations in ACTL6B might affect the development of human neurons.	Intellectual Disability	Genome
1949	31031587	9606	Blood	DSM-V	Case-control based	WES//Gene Panel Testing//Sanger Sequencing	WES//Gene Panel Testing//Sanger Sequencing	In the ASD patient subset, we identified several rarely reported candidate genes including DOLK, USH2A, and HUWE1.	Autism Spectrum Disorder	Genome
1950	31043756	9606	NA	Others	Case-control based	GWAS	GWAS	We performed a genome-wide association study (GWAS) including 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 822 variants with P < 1 × 10-4 in an additional 9,412 cases and 137,760 controls. Eight of the 19 variants that were genome-wide significant (P < 5 × 10-8) in the discovery GWAS were not genome-wide significant in the combined analysis, consistent with small effect sizes and limited power but also with genetic heterogeneity.	Bipolar Disorder	Genome
1951	31055723	9606	Blood	ICD-10	Case-control based	qRT-PCR//Sequenom MassARRAY	qRT-PCR//Sequenom MassARRAY	In this study, we aim to determine the association of TP53 polymorphisms, rs1042522 and rs17879353, with the susceptibility to schizophrenia (SCZ) or bipolar disorder (BD) in Chinese Han population. A total of 548 SCZ patients, 512 BD patients, and 598 healthy controls were recruited. Genotyping was conducted through Sequenom MassARRAY technology platform. The quantitative real-time polymerase chain reaction (qRT-PCR) was used to detect TP53 expression level.	Bipolar Disorder	Genome
1952	31065058	9606	Blood	Others	Case-control based	Illumina//Two-stage GWAS	Illumina//Two-stage GWAS	Variants in the ASH1L/GBA (Chr1q22) and APOE ε4 (Chr19) loci were associated with DLB surpassing the genome-wide significance threshold (p < 5 脳 10-8).	Neurocognitive Disorder With Lewy Bodies	Genome
1953	31071710	9606	NA	DSM-IV	Case-control based	Sequenom MassARRAY	Sequenom MassARRAY	A sample (N = 131) of bipolar patients were investigated with 10 polymorphisms within the FKBP5 gene. A control sample (N = 65) was also used for the analyses. Treatment response and remission of symptoms were evaluated using of the Hamilton Depression Rating Scale (HDRS), Hamilton Anxiety Rating Scale (HARS), and Young Mania Rating Scale (YMRS). The same analyses were also performed on the depressive subsample of BPD (D.BPD).	Bipolar Disorder	Genome
1954	31079897	9606	NA	Others	Family based	Chromosomal Microarray//ES//GS	Chromosomal Microarray//ES//GS	Summary of KMT2E Variants Found in 38 Individuals with Neurodevelopmental Phenotypes	Intellectual Disability	Genome
1955	31079897	9606	NA	Others	Family based	Chromosomal Microarray//ES//GS	Chromosomal Microarray//ES//GS	Summary of KMT2E Variants Found in 38 Individuals with Neurodevelopmental Phenotypes	Autism Spectrum Disorder	Genome
1956	31079897	9606	NA	Others	Case-control based	ES//GS	ES//GS	We identified 38 individuals with KMT2E variants in association with a neurodevelopmental phenotype.	Neurodevelopmental Disorders	Genome
1957	31079899	9606	NA	Others	Case-control based	Illumina HiSeq4000//Illumina HumanOmniExpress//Affymetrix Cytoscan HD	Illumina HiSeq4000//Illumina HumanOmniExpress//Affymetrix Cytoscan HD	In this study, we report three unrelated families comprising five affected individuals with an overlapping, complex neurodevelopmental disorder characterized by microcephaly, intellectual disability, cerebral malformations, and dysmorphic facial features. These data reinforce the importance of the cytoplasmic dynein-1 complex in neurodevelopment and specifically implicate DYNC1I2 in syndromic microcephaly.	Intellectual Disability	Genome
1958	31096178	9606	NA	Others	Case-control based	GWAS	GWAS	To systematically review findings of GWAS in schizophrenia (SZ) and in bipolar disorder (BD); and to interpret findings, with a focus on identifying independent replications.	Bipolar Disorder	Genome
1959	31099984	9606	Blood	DSM-IV	Case-control based//Family based	PCR//Functional molecular genetics	PCR//Functional molecular genetics	Our data indicate that functional variants of KCNJ6 influence brain activity during reward-related and executive processes supporting the view of a differential, age-dependent modulatory impact of dopamine-related brain processes in ADHD risk.	Attention-Deficit/Hyperactivity Disorder	Genome
1960	31109370<U+00A0>	9606	Cell lines(GSC11)	Others	Case-control based	RNA-seq	RNA-seq	In the current study, we utilized genotype and dorsolateral prefrontal cortex (DLPFC) expression data provided by the CMC to exploit circRNA expression variation arising from genetic, biological, and technical factors.	Schizophrenia	Genome
1961	31131421	9606	NA	Others	Case-control based	TaqMan//Genotyping Array	TaqMan//Genotyping Array	We replicated the association of rs72824905-G with reduced AD risk and we found an association with reduced risk of dementia with Lewy bodies (DLB) and frontotemporal dementia (FTD).	Frontotemporal Dementia	Genome
1962	31138891	9606	Brain	Others	Case-control based	Illumina HiSeq//Sequenom MassArray	Illumina HiSeq//Sequenom MassArray	We have previously reported a replicable association between variants at the PDE4D gene and familial schizophrenia in a Finnish cohort. In order to identify the potential functional mutations underlying these previous findings, we sequenced 1.5Mb of the PDE4D genomic locus in 20 families (consisting of 96 individuals and 79 independent chromosomes), followed by two stages of genotyping across 6668 individuals from multiple Finnish cohorts for major mental illnesses. We identified 4570 SNPs across the PDE4D gene, with 380 associated to schizophrenia (p≤0.05).	Schizophrenia	Genome
1963	31160359	9606	NA	WAIS-IV//CVLT-II//RCFT//WMS-IV//LM//Beery VMI	Case report	WES	WES	Our results suggest that loss of Ets1 causes a "partial Jacobsen syndrome phenotype" including congenital heart disease, facial dysmorphism, intellectual disability, and Attention-Deficit/Hyperactivity Disorder.	Attention-Deficit/Hyperactivity Disorder	Genome
1964	31168069	9606	NA	Others	Case-control based	GWAS	GWAS	Here, we report the results of a GWAS of mood instability as a trait in a large population cohort (UK Biobank, n = 363,705). We also assess the clinical and biological relevance of the findings, including whether genetic associations show enrichment for nervous system pathways. Forty six unique loci associated with mood instability were identified with a SNP heritability estimate of 9%. Linkage Disequilibrium Score Regression (LDSR) analyses identified genetic correlations with Major Depressive Disorder (MDD), Bipolar Disorder (BD), Schizophrenia, anxiety, and Post Traumatic Stress Disorder (PTSD).	Major Depressive Disorder	Genome
1965	31170425	9606	NA	DSM-IV	Case-control based	Genotyping//PCR	Genotyping//PCR	In brief, in the current study we demonstrated associations between GRM7 variants and both mood disorder and ADHD conditions. Such study further highlights the role of glutaminergic pathways in the pathogenesis of psychiatric disorders and warrants future studies to elaborate the underlying mechanism.	Attention-Deficit/Hyperactivity Disorder	Genome
1966	31209380	9606	brain	ICD-10	Case-control based	GWAS//Meta-analysis//Illumina Beadarray	GWAS//Meta-analysis//Illumina Beadarray	Table1 Genome-wide significant SNPs associated with CUD	Cannabis Use Disorder	Genome
1967	31209380	9606	brain	ICD-10	Case-control based	GWAS//Meta-analysis//Illumina Beadarray	GWAS//Meta-analysis//Illumina Beadarray	The index variant (rs56372821) is a strong eQTL for CHRNA2 and analyses of the genetically regulated gene expression identified a significant association of CHRNA2 expression with CUD in brain tissue.	Cannabis Use Disorder	Genome
1968	31209396	9606	NA	Others	Case-control based	WES//Sanger Sequencing	WES//Sanger Sequencing	We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including the transcription factor FEV, a key regulator of the serotonergic circuitry.	Autism Spectrum Disorder	Genome
1969	31212010	9606	NA	DSM-IV	Case-control based	GWAS//Meta-analysis//Genotyping	GWAS//Meta-analysis//Genotyping	Table 3 FUMA analysis of genetic risk loci for cocaine dependence as identified from the GWAS meta-analysis	Cocaine Addiction	Genome
1970	31230721	9606	Blood	Others	Case-control based	Sanger Sequencing//q-PCR//Western Blotting	Sanger Sequencing//q-PCR//Western Blotting	We compared the frequency of de novo variants in patient-parent trios with (n = 2,030) versus without (n = 2,755) NDDs. We identified de novo variants in TAOK1 (thousand and one [TAO] amino acid kinase 1), which encodes the serine/threonine-protein kinase TAO1, in three individuals with NDDs but not in persons who did not have NDDs. Through further screening and the use of GeneMatcher, five additional individuals with NDDs were found to have de novo variants. All eight variants were absent from gnomAD (Genome Aggregation Database).	Neurodevelopmental Disorders	Genome
1971	31230729	9606	Brain//Blood//Adipose	Others	Case-control based	GWAS//TWAS//Meta-analysis	GWAS//TWAS//Meta-analysis	This study identified 14 genes as significantly differentially expressed in ASD, 13 of which were outside of known genome-wide significant loci (±500 kb). XRN2, a gene proximal to an ASD GWAS locus, was inferred to be significantly upregulated in ASD, providing insight into the functional consequence of this associated locus. One novel transcriptome-wide significant association from this study is the downregulation of PDIA6, which showed minimal evidence of association in the GWAS, and in gene-based analysis using MAGMA. Predicted gene expression in this study accounted for 13.0% of the total ASD single nucleotide polymorphism heritability.	Autism Spectrum Disorder	Genome
1972	31233999	9606	Blood	Conners’ Adolescent Self-Report Scale //DSM-IV	Case-control based	Genotyping//TaqMan	Genotyping//TaqMan	Here we investigate if sex and polymorphisms in Mn transporter genes SLC30A10 and SLC39A8 influence the association between Mn exposure and ADHD-related behavioral problems in children.	Attention-Deficit/Hyperactivity Disorder	Genome
1973	31236099	9606	Blood	DSM-IV	Case-control based	SNaPShot//PCR	SNaPShot//PCR	Genome-wide association studies (GWAS) suggest that rs9371601 in the SYNE1 gene is a risk SNP for bipolar disorder (BPD) in populations of European ancestry, but further replication analyses across distinct populations are needed. We analyzed the association between rs9371601 and BPD in a Han Chinese sample of 1315 BPD cases and 1956 controls.	Bipolar Disorder	Genome
1974	31256876	9606	NA	Others	Case-control based	Illumina HiSeq2500	Illumina HiSeq2500	Proteins anchored to the cell surface via glycosylphosphatidylinositol (GPI) play various key roles in the human body, particularly in development and neurogenesis. We describe ten unrelated families with bi-allelic mutations in PIGB, a gene that encodes phosphatidylinositol glycan class B, which transfers the third mannose to the GPI. All affected individuals have global development delay and/or intellectual disability.	Intellectual Disability	Genome
1975	31264768	9606	Brain	Others	Case-control based	Sequenom MassARRAY	Sequenom MassARRAY	We genotyped the three eSNPs in the READ cohort of 372 cases and 354 controls and discovered only weak associations in rs201605 and rs4234898 with three DD symptoms (p < .02).	Developmental Dyslexia	Genome
1976	31300657	9606	NA	Others	Case-control based	WES//WGS	WES//WGS	We report 28 unrelated individuals, affected with neurodevelopmental abnormalities encompassing ID/DD, ASD, RTT-like features and seizures or developmental epileptic encephalopathy (DEE), in whom we have identified heterozygous de novo variants in GRIA2. Functional analyses reveal loss of function for the majority of the mutations, supporting GluA2 defects as a cause of NDDs with variable associated neurological phenotypes.	Intellectual Disability	Genome
1977	31303265	9606	NA	Others	Case-control based	ES	ES	POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system. The phenotypes of all 19 individuals with POU3F3 variants were systematically assessed and analyzed. All individuals with a POU3F3 variant in our cohort (19/19; 100%) had developmental delays (DD) and/or an intellectual disability (ID).	Intellectual Disability	Genome
1978	31308545	9606	NA	DSM-III-R//DSM-IV//ICD	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	We conducted a genome-wide association study (GWAS) of 16,992 anorexia nervosa cases and 55,525 controls, identifying eight significant loci.	Anorexia Nervosa	Genome
1979	31317860	9606	Cerebrospinal fluid//Blood	DSM-IV	Case-control based	KASP SNP Genotyping	KASP SNP Genotyping	We report associations of CACNA1C risk alleles with serum levels of BDNF as well as tissue plasminogen activator, which converts pro-BDNF to mature BDNF. This sheds light on links between CACNA1C genetic variants and pathophysiological mechanisms in bipolar disorder. Six SNPs for CACNA1C were studied, but only risk alleles for SNP rs1006737 were significantly more common in patients.	Bipolar Disorder	Genome
1980	31323592	9606	Blood	DSM-IV	Case-control based	TaqMan	TaqMan	We included 413 patients with mood disorder and 1294 controls. The clock genes investigated were BHLHB2, CLOCK, CSNK1E, NR1D1, PER2, PER3, and TIMELESS. Allele, genotype, and haplotype associations were tested. Gene–-gene interactions were analyzed using the non-parametric model-free multifactor-dimensionality reduction (MDR) method.	Bipolar Disorder	Genome
1981	31327001	9606	NA	Others	Family based	Illumina NextSeq550//Illumina HiSeq2000//Sanger Sequencing	Illumina NextSeq550//Illumina HiSeq2000//Sanger Sequencing	Here, we present data on exome and genome sequencing as well as array analysis of 13 individuals that point to pathogenic, heterozygous, mostly de novo variants in WDFY3 (significant de novo enrichment P = 0.003) as a monogenic cause of mild and non-specific neurodevelopmental delay. Nine variants were protein-truncating and four missense. Overlapping symptoms included neurodevelopmental delay, intellectual disability, macrocephaly, and psychiatric disorders (autism spectrum disorders/attention deficit hyperactivity disorder).	Neurodevelopmental Disorders	Genome
1982	31327508	9606	NA	Others	Case-control based	WES	WES	Variants in WDR37 underlie a novel syndromic neurological disorder. Here, we identified five pediatric probands with de novo variants in WDR37, which encodes a member of the WD40 repeat protein family. Two probands shared one variant and the others have variants in nearby amino acids outside the WD40 repeats. The probands exhibited shared phenotypes of epilepsy, colobomas, facial dysmorphology reminiscent of CHARGE syndrome, developmental delay and intellectual disability, and cerebellar hypoplasia.	Intellectual Disability	Genome
1983	31343434	9606	NA	International Classification of Sleep Disorders-3	Case-control based	Affymetrix Axiom CHB Array	Affymetrix Axiom CHB Array	The patterns of haplotype in TRA (haplotypes TG and CT) are associated with hypnagogic auditory hallucination in patients with narcolepsy type 1	Narcolepsy	Genome
1984	31353022	9606	NA	Others	Family based	WES//Sanger Sequencing	WES//Sanger Sequencing	Mutations in three genes of the GPI transamidase complex have been associated with human disease. Severe intellectual disability, global developmental delay, muscular hypotonia, seizures, and cerebellar atrophy were described in individuals with GPAA1. Whole-exome sequencing (WES) revealed two rare homozygous variants in PIGU.	Intellectual Disability	Genome
1985	31353024	9606	NA	Others	Family based	ES	ES	Given that Delta-like 1 (DLL1) is a ligand for the Notch receptor and that a few individuals with developmental delay, intellectual disability, and brain malformations have microdeletions encompassing DLL1, we hypothesized that insufficiency of DLL1 causes a human neurodevelopmental disorder. This method identified 15 individuals from 12 unrelated families with heterozygous pathogenic DLL1 variants (nonsense, missense, splice site, and one whole gene deletion). The most common features in our cohort were intellectual disability.	Intellectual Disability	Genome
1986	31358989	9606	NA	DSM-IV	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	In European Americans, eight distinct significant regions were identified. Three regions had values of P < 5 × 10-10:	Posttraumatic Stress Disorder	Genome
1987	31374203	9606	Blood//Brain	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	Very recently, new GWASs have been published for schizophrenia, cognitive ability, and educational attainment, and these studies are larger than the input GWAS used for our ASSET analysis. We found that 75% of the loci were in fact reported as significant in the later GWASs with larger sample sizes, and 28 of the 110 loci were independent from other single-phenotype GWAS reports. MAGMA gene-based analysis was conducted on all ASSET subsets. 772 genes survived Bonferroni correction in the overall ASSET analysis, with 306 genes in the concordant subset and 304 genes within the discordant subset.	Schizophrenia	Genome
1988	31388001	9606	NA	WPPSI-IV//WISC-V	Case-control based	WES//RT-qPCR//LC-MS//Multiplexed Large-scale Immunoprecipitations	WES//RT-qPCR//LC-MS//Multiplexed Large-scale Immunoprecipitations	Predicted high-impact single nucleotide variants (SNVs) segregating with ANKS1B microdeletion in families EIN-1 and EIN-2.	Neurodevelopmental Disorders	Genome
1989	31388001	9606	NA	WPPSI-IV//WISC-V	Case-control based	CMA//WES//WGS//RT-qPCR	CMA//WES//WGS//RT-qPCR	We identified two families (EIN-1 and EIN-2) harboring monogenic microdeletions in ANKS1B who had been referred for medical genetic evaluation due to various neurodevelopmental disorders, including autism, ADHD, speech apraxia, and motor delays.	Neurodevelopmental Disorders	Genome
1990	31422817	9606	Blood	Others	Case-control based	Illumina HiSeq4000	Illumina HiSeq4000	Here, we report the identification of five rare de novo missense variants in DDX6 in probands presenting with intellectual disability, developmental delay, and similar dysmorphic features including telecanthus, epicanthus, arched eyebrows, and low-set ears. We suggest DDX6 join the DExD/H-box genes DDX3X and DHX30 in an emerging class of neurodevelopmental disorders involving RNA helicases.	Intellectual Disability	Genome
1991	31426340	9606	Blood	DICA-IV//DSM-IV	Family based	Agena Bioscience MassARRAY MALDI-TOF Sequenom//PCR	Agena Bioscience MassARRAY MALDI-TOF Sequenom//PCR	Our results confirm the susceptibility to ADHD conferred by SNAP25, FGF1, and ADGRL3 variants in a community with a significant African American component, and provide evidence supporting the existence of specific patterns of genetic stratification underpinning the susceptibility to ADHD.	Attention-Deficit/Hyperactivity Disorder	Genome
1992	31434288	9606	Saliva	DSM-IV//DAWBA	Case-control based	TaqMan	TaqMan	We observed an association between rs4916723 (MIR9-2) and the presence of any psychiatric disorder (odds ratios (OR) = 0.820; 95% CI = 0.7130-0.944; p = 0.006) and a suggestive effect on internalizing disorders (OR = 0.830; 95% CI = 0.698-0.987; p = 0.035). rs4938723 (MIR34B/C) was not associated with any evaluated outcome.	Psychotic Disorder	Genome
1993	31452935	9606	Saliva	Others	Case-control based//Family based	WES//Meta-analysis	WES//Meta-analysis	A meta-analysis using the TADA framework at a false discovery rate (FDR) of 0.1 provides statistical support for 26 ASD risk genes.	Autism Spectrum Disorder	Genome
1994	31452935	9606	Saliva	Others	Case-control based//Family based	WES//Meta-analysis	WES//Meta-analysis	While most of these genes are already known ASD risk genes, BRSK2 has the strongest statistical support and reaches genome-wide significance as a risk gene for ASD (p-value = 2.3e 06).	Autism Spectrum Disorder	Genome
1995	31504246	9606	NA	Others	Case-control based	WES//Sanger Sequencing	WES//Sanger Sequencing	Using trio exome sequencing, we identified de novo heterozygous missense variants in PAK1 in four unrelated individuals with intellectual disability, macrocephaly and seizures.	Intellectual Disability	Genome
1996	31518608	9606	Blood	DSM-IV	Case-control based	Affymetrix GenomeWide Human SNP Array 6.0	Affymetrix GenomeWide Human SNP Array 6.0	rs4588 and rs7041 are associated with PTSD, even after adjusting for vitamin D levels.	Posttraumatic Stress Disorder	Genome
1997	31538609	9606	NA	Others	Case report	WES	WES	This case highlights a potential genetic basis for idiopathic rapid eye movement sleep behavior disorder.	Rapid Eye Movement Sleep Behavior Disorder	Genome
1998	31553235	9606	Blood	DSM-V	Case-control based	Polymerase chain reaction//Restriction fragment length polymorphism	Polymerase chain reaction//Restriction fragment length polymorphism	Based on the findings of this study, the polymorphism in the OPRM1 gene might affect the neurophysiological process in patients with gambling disorder.	Gambling Disorder	Genome
1999	31559529	9606	Blood	DSM-IV//AUDIT//OCDS//UPPS-P//BPAQ	Case-control based	PCR	PCR	Five single nucleotide polymorphisms (SNPs) (rs4532 in DRD1, rs2283265 in DRD2, rs6280 in DRD3, rs1800497 in ANKK1, and rs4680 in COMT) and a variable number of tandem repeats (VNTRs) in DAT1 in 295 male patients with AUD were genotyped.	Alcohol Use Disorder	Genome
2000	31562556	9606	Blood	DSM-IV	Case-control based	TaqMan	TaqMan	In this study we showed that SYT1-rs2251214 GG was associated with lower cognitive performance in reasoning, selective attention, inhibitory control, cognitive flexibility, visual attention and processing speed domains compared with A-carriers. These cognitive domains have a key role in behavioral adaptation and self-control among substance abusers.	Attention-Deficit/Hyperactivity Disorder	Genome
2001	31564433	9606	Blood	Others	Case-control based	ES	ES	Intellectual disability (ID) is a genetically and clinically heterogeneous disorder, characterized by limited cognitive abilities and impaired adaptive behaviors. In recent years, exome sequencing (ES) has been instrumental in deciphering the genetic etiology of ID. Here, through ES of a large cohort of individuals with ID, we identified two bi-allelic frameshift variants in METTL5.	Intellectual Disability	Genome
2002	31578044	9606	Blood	ANT//HRT-SE//CPRS-R:S	Case-control based//Family based	Illumina HumanOmni1- Quad v1.0 Beadchip//Infinium Global Screening Array	Illumina HumanOmni1- Quad v1.0 Beadchip//Infinium Global Screening Array	Child rs1260326 (glucokinase regulator, GCKR) and child/maternal rs2281591 (fatty acid elongase 2, ELOVL2) polymorphisms showed nominal P-value for interactions <0.10 between total seafood intake and ANT outcomes.	Attention-Deficit/Hyperactivity Disorder	Genome
2003	31585108	9606	NA	Others	Family based	SureSelect Human All Exome 50Mb//Illumina HiSeq2500	SureSelect Human All Exome 50Mb//Illumina HiSeq2500	Lissencephaly is a severe brain malformation in which failure of neuronal migration results in agyria or pachygyria and in which the brain surface appears unusually smooth. It is often associated with microcephaly, profound intellectual disability, epilepsy, and impaired motor abilities.Here we report on 12 individuals with a unique form of lissencephaly.	Intellectual Disability	Genome
2004	31585109	9606	Blood	Others	Case report	Illumina HiSeq	Illumina HiSeq	Here, we report de novo heterozygous pathogenic variants (seven missense, two frameshift) in CDH2 in nine individuals with a syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, variable axon pathfinding defects, and ocular, cardiac, and genital anomalies.	Intellectual Disability	Genome
2005	31587837	9606	Blood	IPDE//CTQ//DSMIV	Case-control based	TaqMan	TaqMan	We found significant group differences, as well as a strong effect of genotype on COMT DNA methylation.	Borderline Personality Disorder	Genome
2006	31591379	9606	NA	DSM-IV//MAST//BIS-11	Case-control based	GWAS//Illumina Global Screening Array-24 v1.0 BeadChip	GWAS//Illumina Global Screening Array-24 v1.0 BeadChip	Our findings demonstrate that these variants, which were highly linked with ALDH2 rs671 and ADH1B rs1229984, were significant modulators for AD in our Han Chinese cohort.	Alcohol Use Disorder	Genome
2007	31591465	9606	NA	Others	Case-control based	WGS//Meta-analysis//Illumina Infinium	WGS//Meta-analysis//Illumina Infinium	Among 128 statistically significant associations in the PGC-SCZ2 study, we successfully fine-mapped 12 regions by trans-ancestry meta-analysis with African ancestry GWAS summary statistics.	Schizophrenia	Genome
2008	31594949	9606	NA	DSM-III-R//DSM-V	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	Three genome-wide significant loci are identified, 2 in European and 1 in African-ancestry analyses. Analyses stratified by sex implicate 3 additional loci in men.	Posttraumatic Stress Disorder	Genome
2009	31595036	9606	NA	DSM-IV//K-SADS-E//SNAP-IV	Case-control based	Genotyping	Genotyping	A novel gene-brain-behavior association was identified in which the intrinsic brain activity of the sensorimotor and dorsal attention networks was related to visual memory and visual attention in ADHD children with the SLC6A2 rs36011 (T)/rs1566652 (G) haplotype.	Attention-Deficit/Hyperactivity Disorder	Genome
2010	31595036	9606	NA	DSM-IV//K-SADS-E//SNAP-IV	Case-control based	Genotyping//MALDI-TOF MS	Genotyping//MALDI-TOF MS	This study is the first to demonstrate that ReHo and DC in sensorimotor and dorsal attention networks are modulated by the SLC6A2 rs36011 (T)/rs1566652 (G) haplotype in children with ADHD, and also the first to demonstrate that these SLC6A2-modulated alterations in ReHo and DC are related to visual memory and visual attention. Our findings provide evidence that the SLC6A2 rs36011 (T)/rs1566652 (G) haplotype may play an important role in altered intrinsic brain activity, visual memory, and visual attention in children with ADHD.	Attention-Deficit/Hyperactivity Disorder	Genome
2011	31596458	9606	Blood	DSM-IV	Case-control based	PsychChip	PsychChip	A total of 7 regions exceeding a conventional genome-wide significance threshold (P<5×10-8) were associated with various endophenotype deficits, and the genes within these regions largely implicate glutamate and axonal dysfunctions as well as other neurobiologically salient targets. Many regions of interest were identified, including 39 previously associated with a schizophrenia diagnosis.	Schizophrenia	Genome
2012	31602316	9606	Blood//Saliva	ICD-11//DSM-V// DSM-IV	Case-control based	Affymetrix CytoScan HD	Affymetrix CytoScan HD	Table3:Copy number variations of clinical significance among four neurodevelopmental disorders	Neurodevelopmental Disorders	Genome
2013	31607425	9606	Blood	Others	Family based	Illumina//Sanger Sequencing	Illumina//Sanger Sequencing	In this study, we report five affected individuals from two unrelated families with similar phenotypes of intellectual disability, developmental delay, short stature, aphasia, and hypotonia. By combining exome sequencing and genotyping of family members, we identified two different recessive likely pathogenic variants in IQSEC1, segregating in each family with the disease phenotype. Studies of the Drosophila ortholog and expression of cDNAs encoding human reference and variant IQSEC1 in flies suggest that the variants are loss- or partial loss-of-function mutations.	Intellectual Disability	Genome
2014	31616000	9606	NA	Others	Case-control based	WES	WES	TANC2 was recently reported to encode a synapse scaffolding protein interacting with multiple PSD proteins to regulate dendritic spines and excitatory synapse formation. We were able to identify an additional 17 families (17 probands and 3 affected siblings) with TANC2 putative disruptive variants and a comorbid diagnosis of DD, ID, or ASD.	Intellectual Disability	Genome
2015	31616042	9606	Blood	Others	Case-control based	GWAS	GWAS	Here we review a GRB-based approach to assign loci in non-coding regions to potential target genes, and apply it to reanalyse the results of one of the largest schizophrenia GWAS (SWG PGC, 2014).	Schizophrenia	Genome
2016	31619474	9606	NA	Others	Case-control based	Meta-analysis	Meta-analysis	Cross-trait meta-analysis identified seven loci jointly associated with asthma and ADHD, one locus with asthma and ANX, and 10 loci with asthma and MDD.	Anxiety Disorder	Genome
2017	31619474	9606	NA	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	Cross-trait meta-analysis identified seven loci jointly associated with asthma and ADHD, one locus with asthma and ANX, and 10 loci with asthma and MDD.	Major Depressive Disorder	Genome
2018	31626773	9606	Blood	Others	Case-control based	RNA-seq//Genotypig//qPCR//Meta-Analysis	RNA-seq//Genotypig//qPCR//Meta-Analysis	We characterized the genetic control of the transcriptome in 201 mid-gestational human brains, identifying 7,962 expression quantitative trait loci (eQTL) and 4,635 spliceQTL (sQTL), including several thousand prenatal-specific regulatory regions. We show that significant genetic liability for neuropsychiatric disease lies within prenatal eQTL and sQTL. Integration of eQTL and sQTL with genome-wide association studies (GWAS) via transcriptome-wide association identified dozens of novel candidate risk genes, highlighting shared and stage-specific mechanisms in schizophrenia (SCZ).	Schizophrenia	Genome
2019	31626773	9606	Brain	DSM-IV	Case-control based	RNA-seq	RNA-seq	We characterized the genetic control of the transcriptome in 201 mid-gestational human brains, identifying 7,962 expression quantitative trait loci (eQTL) and 4,635 spliceQTL (sQTL), including several thousand prenatal-specific regulatory regions. We show that significant genetic liability for neuropsychiatric disease lies within prenatal eQTL and sQTL. Integration of eQTL and sQTL with genome-wide association studies (GWAS) via transcriptome-wide association identified dozens of novel candidate risk genes, highlighting shared and stage-specific mechanisms in schizophrenia (SCZ).	Schizophrenia	Genome
2020	31626773<U+00A0>	9606	Blood	Others	Case-control based	RNA-seq//Genotypig//qPCR//Meta-Analysis	RNA-seq//Genotypig//qPCR//Meta-Analysis	We characterized the genetic control of the transcriptome in 201 mid-gestational human brains, identifying 7,962 expression quantitative trait loci (eQTL) and 4,635 spliceQTL (sQTL), including several thousand prenatal-specific regulatory regions. We show that significant genetic liability for neuropsychiatric disease lies within prenatal eQTL and sQTL. Integration of eQTL and sQTL with genome-wide association studies (GWAS) via transcriptome-wide association identified dozens of novel candidate risk genes, highlighting shared and stage-specific mechanisms in schizophrenia (SCZ).	Schizophrenia	Genome
2021	31626773<U+00A0>	9606	Brain	DSM-IV	Case-control based	RNA-seq	RNA-seq	We characterized the genetic control of the transcriptome in 201 mid-gestational human brains, identifying 7,962 expression quantitative trait loci (eQTL) and 4,635 spliceQTL (sQTL), including several thousand prenatal-specific regulatory regions. We show that significant genetic liability for neuropsychiatric disease lies within prenatal eQTL and sQTL. Integration of eQTL and sQTL with genome-wide association studies (GWAS) via transcriptome-wide association identified dozens of novel candidate risk genes, highlighting shared and stage-specific mechanisms in schizophrenia (SCZ).	Schizophrenia	Genome
2022	31628858	9606	Cell lines(HepG2 human hepatoma)//Cell lines(Caco2 human colorectal adenocarcinoma)	Others	Case-control based	qRT-PCR//high‐performance liquid chromatography assay	qRT-PCR//high‐performance liquid chromatography assay	The genetic variation of TSPYL genes may be used as novel biomarkers for the prediction of MDD baseline severity of depression	Major Depressive Disorder	Genome
2023	31642026	9606	Blood	DSM-IV-TR//SCID-I-CV	Case-control based	PCR-RFLP//TaqMan	PCR-RFLP//TaqMan	Our findings support that HSPA1B gene may be involved in susceptibility to schizophrenia and clinical presentation of the disease in a sex-dependent manner, and may play a role in suicidal behavior in the Polish population of schizophrenic patients.	Paranoid Schizophrenia	Genome
2024	31664177	9606	Brain	Others	Case-control based	RNA-seq	RNA-seq	We subjected AD and control postmortem DNA samples to ddPCR and screened for the most abundant ADNP mutations.	Intellectual Disability	Genome
2025	31664672	9606	Blood	DSM-V	Family based	WES	WES	Here, we found seven de novo missense variants in potential genes in nine studied AN patients.	Anorexia Nervosa	Genome
2026	31668703	9606	Blood	Others	Family based	ES	ES	NTNG2 encodes netrin-G2, a membrane-anchored protein implicated in the molecular organization of neuronal circuitry and synaptic organization and diversification in vertebrates. In this study, through a combination of exome sequencing and autozygosity mapping, we have identified 16 individuals (from seven unrelated families) with ultra-rare homozygous missense variants in NTNG2; these individuals present with shared features of a neurodevelopmental disorder consisting of global developmental delay, severe to profound intellectual disability.	Intellectual Disability	Genome
2027	31695175	9606	NA	DSM-IV	Family based	Illumina Infinium Human OmniExpress24//TaqMan//RT-PCR	Illumina Infinium Human OmniExpress24//TaqMan//RT-PCR	We found a significant overexpression of the gene ITGB5 at 3q25 in SZ and BD after multiple testing p value adjustment. SPCS3 gene at 4q34, and FZD3 gene at 8p21, contained significant eQTNs after multiple testing corrections, while ITGB5 provided suggestive results. Methylation in associated genes did not explain the expression differences between patients and NARs.	Bipolar Disorder	Genome
2028	31702801	9606	brain	DSM-III-R//DSM-IV //DSM-V	Case-control based	Meta-analysis//Illumina GoldenGate	Meta-analysis//Illumina GoldenGate	A total of 62 studies of DRD2 and AUD with 16 294 participants were meta-analyzed. The rs1800497 SNP was associated with AUD (odds ratio, 1.23; 95% CI, 1.14-1.31; P < .001).	Alcohol Use Disorder	Genome
2029	31706190	9606	Blood	International RLS Study Group Criteria	Case-control based	Genotyping	Genotyping	Among 10 tested SNPs, only rs3104767 (related to the TOX3 gene locus) was more associated with painful RLS.	Restless Legs Syndrome	Genome
2030	31712720	9606	Blood	DSM-III-R//DSM-IV//ICD-10	Case-control based	Meta-analysis//Genotyping	Meta-analysis//Genotyping	After correction for multiple testing, a significant genetic correlation was found between PD and major depressive disorder, depressive symptoms, and neuroticism.	Panic Disorder	Genome
2031	31712720	9606	Blood	Others	Case-control based	GWAS//Meta-analysis//Illumina Infinium HumanCoreExome	GWAS//Meta-analysis//Illumina Infinium HumanCoreExome	The present report describes the largest genome-wide association study (GWAS) of PD to date comprising genome-wide genotype data of 2248 clinically well-characterized PD patients and 7992 ethnically matched controls. The samples originated from four European countries (Denmark, Estonia, Germany, and Sweden).	Major Depressive Disorder	Genome
2032	31723243	9606	NA	Others	Case-control based	GWAS//RNA-seq	GWAS//RNA-seq	Here, we conduct summary data-based Mendelian randomization (SMR) analyses through combining the statistical data from genome-wide association studies (GWAS) of both schizophrenia and BPD and multiple expression quantitative trait loci (eQTL) datasets of the human brain dorsolateral prefrontal cortex (DLPFC) tissues. These integrative investigations identify a lead risk locus at the chromosome 3p21.1 region, which contains numerous single-nucleotide polymorphisms (SNPs) in varied linkage disequilibrium (LD) and encompasses more than 20 genes.	Bipolar Disorder	Genome
2033	31740837<U+00A0>	9606	Brain	DSM-IV	Case-control based	RNA-seq	RNA-seq	Here, we report the largest study to date of East Asian participants (22,778 schizophrenia cases and 35,362 controls), identifying 21 genome-wide-significant associations in 19 genetic loci.	Schizophrenia	Genome
2034	31748690	9606	NA	CIDI//GAD-7// DSM	Case-control based	GWAS	GWAS	Five novel genome-wide significant loci were identified including an intergenic region on chromosome 9 that has previously been associated with neuroticism, and a locus overlapping the BDNF receptor gene, NTRK2	Anxiety Disorder	Genome
2035	31773399	9606	NA	DSM-V	Case-control based	ARMS-PCR	ARMS-PCR	In the present genotyping research project, we assessed associations between two ANRIL SNPs and risk of mood disorders and methamphetamine addiction. Our study revealed that the rs1333048 was associated with methamphetamine addiction, BP I, BP II, and MDD, while the other SNP was associated with all conditions except for BP I.	Bipolar Disorder	Genome
2036	31773399	9606	NA	DSM-V	Case-control based	ARMS-PCR	ARMS-PCR	In the present genotyping research project, we assessed associations between two ANRIL SNPs and risk of mood disorders and methamphetamine addiction. Our study revealed that the rs1333048 was associated with methamphetamine addiction, BP I, BP II, and MDD, while the other SNP was associated with all conditions except for BP I.	Bipolar II Disorder	Genome
2037	31776463	9606	Blood	DSM-IV	Case-control based	WGS	WGS	In this study, we apply a de novo paradigm in BD to identify newly arisen variants that have yet to undergo natural selection and may represent highly pathogenic variants. We performed whole genome sequencing of 97 trios of Ashkenazi Jewish descent, selecting “simplex” families with no family history of BD and an early age of onset. We found a total of 6882 de novo variants (an average of 70.9±12.9S.D. variants per trio), including 107 variants within protein-coding genes. To increase statistical power, we combined our results with those of the only prior de novo study of BD (n=79 trios).	Bipolar Disorder	Genome
2038	31785787	9606	NA	Others	Case-control based	ES//Sanger Sequencing	ES//Sanger Sequencing	We report an early-onset autosomal-recessive neurological disease with cerebellar atrophy and lysosomal dysfunction. We identified bi-allelic loss-of-function (LoF) variants in Oxidative Resistance 1 (OXR1) in five individuals from three families; these individuals presented with a history of severe global developmental delay, current intellectual disability, language delay, cerebellar atrophy, and seizures.	Intellectual Disability	Genome
2039	31785789	9606	Blood	Others	Case-control based	WES//WGS	WES//WGS	We obtained DNM data from denovo-db v.1.5.The dataset included probands with autism and developmental delay (DD).Sample denominators for de novo enrichment calculation are estimated based on unaffected sibling data from the Simons Simplex Collection (SSC).After applying the high-coverage region filter (described later), there were 3,297 DNMs in females and 6,726 in males.	Neurodevelopmental Disorders	Genome
2040	31785789	9606	Blood	Others	Case-control based	WES//WGS	WES//WGS	We analyzed DNM data from ～8,825 parent-child trios and assessed male and female probands with NDDs separately for enrichment of de novo LGD, missense, or the combination of LGD and missense variants for 19,295 genes. We considered two DNM enrichment models: one based on CH divergence and another based on triplet repeat context (i.e., denovolyzeR). In total, 54 distinct genes reached genome-wide significance in the union of the CH.	Neurodevelopmental Disorders	Genome
2041	31792363	9606	NA	Others	Case-control based	GWAS	GWAS	Here we aimed to better characterize the genetic architecture of these disorders utilizing recent large genome-wide association studies (GWAS). We analyzed independent GWAS summary statistics for ADHD (19,099 cases and 34,194 controls) and BD (20,352 cases and 31,358 controls). Leveraging this enrichment, we identified 19 novel ADHD risk loci and 40 novel BD risk loci at condFDR <0.05.	Bipolar Disorder	Genome
2042	31794024	9606	NA	Others	Family based	WES	WES	The conserved transport protein particle (TRAPP) complexes regulate key trafficking events and are required for autophagy. Pathogenic variants in specific TRAPP subunits are associated with neurological disorders. We conclude that the TRAPPC4 c.454+3A>G variant leads to a splicing defect that results in skipping of exon 3, and a loss of 96% of the intact TRAPPC4 transcript that contributes to the phenotype of the patient.	Intellectual Disability	Genome
2043	31794431	9606	NA	Others	Case report	Illumina HiSeq2500//Sanger Sequencing	Illumina HiSeq2500//Sanger Sequencing	This study uncovers a critical role of KAT8 in cerebral and NSPC development, identifies 9 individuals with KAT8 variants, and links deficient H4K16 acylation directly to intellectual disability, epilepsy, and other developmental anomalies.	Intellectual Disability	Genome
2044	31829002	9606	NA	DSM-IV	Case-control based	PCR	PCR	Using magnetic resonance imaging, we measured the average cortical thickness of 68 brain regions in 87 patients genotyped for the single-nucleotide polymorphism rs1006737 in CACNA1C.	Bipolar Disorder	Genome
2045	31835028	9606	Blood//Brain	ICD-10	Case-control based	LDSC//Meta analysis	LDSC//Meta analysis	To provide a quantitative estimate of the best fit configuration of cross-disorder genotype-phenotype relationships, we estimated the posterior probability of association (referred to as the m-value) with each disorder using a Bayesian statistical framework. As recommended, an m-value threshold of 0.9 was used to predict with high confidence that a particular SNP was associated with a given disorder. Also, m-values of < 0.1 were taken as strong evidence against association. Plots of the SNP p-value vs. m-value for all 146 lead SNPs.	Autism Spectrum Disorder	Genome
2046	31835028	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	Meta-analysis	Meta-analysis	We performed analyses of 232,964 cases and 494,162 controls from genome-wide studies of anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, and Tourette syndrome.	Bipolar Disorder	Genome
2047	31835028	9606	Blood//Brain	Clinical diagnosis	Case-control based	Meta-analysis	Meta-analysis	We performed analyses of 232,964 cases and 494,162 controls from genome-wide studies of anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, and Tourette syndrome. Genetic correlation analyses revealed a meaningful structure within the eight disorders, identifying three groups of inter-related disorders.	Schizophrenia	Genome
2048	31837909	9606	Blood(Lymphocytes)	Others	Family based	Genotyping//NGS	Genotyping//NGS	In this article, we report the new GRN 708+4A>T splicing mutation, identified in 2 siblings of a family with several members affected by cognitive, behavioral, and motor disorders.	Language Disorder	Genome
2049	31855245	9606	Cell lines(Lymphoblast)	Others	Family based	Sanger Sequencing	Sanger Sequencing	Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognitive disorders, usually beginning between 13 and 25 years of age.	Frontotemporal Neurocognitive Disorder	Genome
2050	31855252	9606	NA	Others	Family based	WES	WES	Heterozygous mutations in the STXBP1 gene encoding the presynaptic protein MUNC18-1 cause STXBP1 encephalopathy, characterized by developmental delay, intellectual disability and epilepsy. Here, we report the first two cases carrying a homozygous STXBP1 mutation, where their heterozygous siblings and mother are asymptomatic. Both cases were diagnosed with Lennox-Gastaut syndrome.	Intellectual Disability	Genome
2051	31906708	9606	Blood	GAD-2	Case-control based	Affymetrix Axiom Biobank Array//Meta-analysis	Affymetrix Axiom Biobank Array//Meta-analysis	The authors identified five genome-wide significant signals for European Americans and one for African Americans on GAD-2 score.	Anxiety Disorder	Genome
2052	31907381	9606	NA	Others	Case-control based	GWAS	GWAS	Genome-Wide Association Studies (GWAS) have transformed our understanding of BD, providing the first reproducible evidence of specific genetic markers and a highly polygenic architecture that overlaps with that of schizophrenia, major depression, and other disorders. Individual GWAS markers appear to confer little risk, but common variants together account for about 25% of the heritability of BD. A few higher-risk associations have also been identified, such as a rare copy number variant on chromosome 16p11.2.	Bipolar Disorder	Genome
2053	31910717	9606	Blood	DSM-IV//CDIS	Case-control based	Genotyping	Genotyping	A genotypic effect on EL symptoms was only found for NET1-rs3785143, indicating higher EL symptoms in TT genotype carriers than in C-allele carriers. Imaging genetic analyses indicated a marginal effect of NET1-rs3785143 on ADHD-altered FC between the superficial amygdala (SFA) and middle frontal gyrus (MFG). Mediation analysis suggested potential effects of NET1-rs3785143 via RSFC (SFA-MFG) on EL	Attention-Deficit/Hyperactivity Disorder	Genome
2054	31913414	9606	Blood//Brain	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	In this study, we analyzed GWAS summary statistics of BMI, SCZ, BIP, and MD using the pleiotropy-based conditional and conjunctional false discovery rate (FDR) statistics to investigate the shared genetic architectures of BMI and SCZ, BIP, and MD.This is distinct genomic loci associated with SCZ condFDR<0.01 given association with BMI?	Bipolar Disorder	Genome
2055	31913414	9606	Blood//Brain	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	In this study, we analyzed GWAS summary statistics of BMI, SCZ, BIP, and MD using the pleiotropy-based conditional and conjunctional false discovery rate (FDR) statistics to investigate the shared genetic architectures of BMI and SCZ, BIP, and MD.This is distinct genomic loci associated with SCZ condFDR<0.01 given association with BMI?	Schizophrenia	Genome
2056	31926635	9606	NA	DSM-V	Case-control based	GWAS	GWAS	We meta-analysed data from the latest Psychiatric Genomics Consortium (PGC) genome-wide association studies of major depression (including data from 23andMe) and bipolar disorder, and an additional major depressive disorder cohort from UK Biobank (total: 185,285 cases, 439,741 controls; non-overlapping N = 609,424). Seventy-three loci reached genome-wide significance in the meta-analysis, including 15 that are novel for mood disorders.	Bipolar Disorder	Genome
2057	31926635	9606	NA	DSM-V	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	To clarify the shared molecular genetic basis of major depressive disorder and bipolar disorder and to highlight disorder-specific associations, we meta-analyzed data from the latest Psychiatric Genomics Consortium genome-wide association studies of major depression (including data from 23andMe) and bipolar disorder, and an additional major depressive disorder cohort from UK Biobank (total: 185,285 cases, 439,741 controls; nonoverlapping N = 609,424).	Major Depressive Disorder	Genome
2058	31927265	9606	Saliva//Blood	PCL//DSM-IV //LEC	Case-control based	Genotyping	Genotyping	We found that probable PTSD subjects were significantly more likely to carry the A-allele of rs3800373, G-allele of rs9296158, C-allele of rs1360780, and C-allele of rs9470080.	Posttraumatic Stress Disorder	Genome
2059	31928709	9606	NA	Others	Family based	ES	ES	TET3 is a methylcytosine dioxygenase that initiates DNA demethylation during early zygote formation, embryogenesis, and neuronal differentiation and is intolerant to haploinsufficiency in mice and humans. We identify and characterize 11 cases of human TET3 deficiency in eight families with the common phenotypic features of intellectual disability and/or global developmental delay.	Intellectual Disability	Genome
2060	31945448	9606	NA	DSM-IV-TR	Case-control based	GWAS//Genotyping	GWAS//Genotyping	1550 subjects affected by Schizophrenia (SCZ), Major Depressive Disorder or Bipolar Disorder were included. Symptoms were assessed using the Positive and Negative Syndrome Scale (PANSS) and the Hamilton Depression Rating Scale (HDRS). Principal component analysis and a further clinical refinement were used to define symptom clusters. Clusters scores were tested for association with 46 genetic variants within nine genes previously linked to one or more major psychiatric disorders by large genome wide association studies (ANK3, CACNA1C, CACNB2, FKBP5, FZD3, GRM7, ITIH3, SYNE1, TCF4). Exploratory analyses were performed in each disorder separately to further elucidate the SNPs effects.	Bipolar Disorder	Genome
2061	31969693	9606	Blood	CIDI	Case-control based	GWAS	GWAS	However, the relationship between these traits, including the role of genetic risk factors, is complex and poorly understood. When modelling trauma exposure as an environmental influence on depression, both gene-environment correlations and gene-environment interactions have been observed. The UK Biobank concurrently assessed Major Depressive Disorder (MDD) and self-reported lifetime exposure to traumatic events in 126,522 genotyped individuals of European ancestry. We contrasted genetic influences on MDD stratified by reported trauma exposure (final sample size range: 24,094-92,957).	Major Depressive Disorder	Genome
2062	31980904	9606	Blood	DSM-IV//ADI-R//ABC//CARS	Case-control based	Illumina HiSeq System 2500//Sanger Sequencing//PCR	Illumina HiSeq System 2500//Sanger Sequencing//PCR	We have identified four novel de novo mutations in Chinese subjects: two nonsense variants (c.3562C>T/p.Arg1188X, c.2065C>A/p.Glu689X), a splice site variant (c.4818-1G>A) and a missense variant (c.3502T>A/p.Tyr1168Asn)	Autism Spectrum Disorder	Genome
2063	31981491	9606	Blood//Cell lines	Others	Case-control based//Family based	WES	WES	Using an enhanced analytical framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate of 0.1 or less	Autism Spectrum Disorder	Genome
2064	32001654	9606	NA	Others	Case-control based	Genotyping	Genotyping	To better understand the genetics of schizophrenia, we studied the illness in the Xhosa population of South Africa, recruiting 909 cases and 917 age-, gender-, and residence-matched controls. Individuals with schizophrenia were significantly more likely than controls to harbor private, severely damaging mutations in genes that are critical to synaptic function, including neural circuitry mediated by the neurotransmitters glutamine, γ-aminobutyric acid, and dopamine.	Schizophrenia	Genome
2065	32001654	9606	Brain	Others	Case-control based	Genotyping	Genotyping	To better understand the genetics of schizophrenia, we studied the illness in the Xhosa population of South Africa, recruiting 909 cases and 917 age-, gender-, and residence-matched controls. Individuals with schizophrenia were significantly more likely than controls to harbor private, severely damaging mutations in genes that are critical to synaptic function, including neural circuitry mediated by the neurotransmitters glutamine, γ-aminobutyric acid, and dopamine.	Schizophrenia	Genome
2066	32005204	9606	Saliva	DSM-V	Case-control based	GWAS//Illumina Omni5 Exome	GWAS//Illumina Omni5 Exome	Two main associations were identified in this study. Firstly, two SNPs on chromosome 7 were associated with opioid use disorder, rs118129027 (p-value = 1.23 × 10 - 8) and rs74477937 (p-value = 1.48 × 10 - 8).	Opioid Use Disorder	Genome
2067	32015465<U+00A0>	9606	Blood	DSM	Case-control based	WGS//Affymetrix Genome-Wide Human SNP 6.0 Array	WGS//Affymetrix Genome-Wide Human SNP 6.0 Array	Our results indicate that, despite its high impact, the risk conferred by the 22q11.2 deletion is even greater when present with the genome-wide risk factors that also have a key role in schizophrenia risk in the general population.These findings suggest that in addition to the deletion conferring a greatly increased risk to schizophrenia, the risk is higher when the 22q11.2 deletion and common polygenic risk factors that contribute to schizophrenia in the general population are both present.	Schizophrenia	Genome
2068	32033618	9606	Blood(Leukocytes)	SCID-I//SCID-II	Case-control based	TaqMan//RT-PCR	TaqMan//RT-PCR	Genetic constitution in?SERT?and?BDNF?seems to be important in neuroticism, the most relevant personality trait on BPD.	Borderline Personality Disorder	Genome
2069	32036581	9606	Blood	DSM-V	Case-control based	PCR	PCR	In the current study, we investigated the association between a single nucleotide polymorphism in the lncRNA HOX transcript antisense intergenic RNA (HOTAIR) and risk of diverse neuropsychiatric conditions in Iranian population. The selected polymorphism (rs1899663) is an intronic variant of this lncRNA which has been associated with several cancers in different populations. The current investigation highlights the role of rs1899663 in conferring risk of BPD1, BPD2, MDD, and ADHD and suggests a similar underlying genetic background for these conditions.	Bipolar Disorder	Genome
2070	32046066	9606	Nails	DSM-IV	Case-control based	SSP-PCR	SSP-PCR	Here, we report a case-control study with 147 ASD patients and 150 unselected volunteers at Kanazawa University Hospital in Japan. The sequence-specific primer-polymerase chain reaction method together with fluorescence correlation spectroscopy was applied. Of 14 SNPs examined, one SNP (rs933151) displayed a significant p-value (OR = 0.1798, 95% CI = 0.039, 0.83; Fisher’s exact test; p = 0.0196). The present research data suggest that rs93315, identified as a risk factor for bipolar disorder, is a possible association factor for ASD.	Bipolar Disorder	Genome
2071	32047265	9606	Brain	Others	Case-control based	Genotyping//RNA-seq	Genotyping//RNA-seq	Genome-wide association studies (GWAS) have successfully identified 145 loci implicated in schizophrenia (SCZ). However, the underlying mechanisms remain largely unknown. Here, we analyze 1497 RNA-seq data in combination with their genotype data and identify SNPs that are associated with expression throughout the genome by dissecting expression features to genes (eGene) and exon–exon junctions (eJunction).	Schizophrenia	Genome
2072	32051549	9606	NA	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	A meta-analysis was conducted between ADHD and OCD, and polygenic risk scores (PRS) were calculated for both disorders.	Attention-Deficit/Hyperactivity Disorder	Genome
2073	32056765	9606	Blood	DSM-IV	Case-control based	PCR	PCR	BDNF gene polymorphisms of rs12291186 and rs10835210 were related to the occurrence of ADHD. These findings provide new insight on mechanisms underlying BDNF gene in ADHD	Attention-Deficit/Hyperactivity Disorder	Genome
2074	32060413	9606	Blood	Others	Case-control based	Agilent4×180K Chip//ES	Agilent4×180K Chip//ES	Supplementary Table S4B. Detailed description of variants found in each patient	Autism Spectrum Disorder	Genome
2075	32060413	9606	Blood	Others	Case-control based	Agilent4×180K Chip//ES	Agilent4×180K Chip//ES	Patient F2613 harbors a 345 kb de novo duplication in 17p13.3, which involves six different genes: ABR, BHLHA9, TUSC5, YWHAE, CRK, MYO1C.	Autism Spectrum Disorder	Genome
2076	32066700	9606	Cerebrospinal fluid//Blood	DSM-IV	Case-control based	PsychChip//Affymetrix 6.0//Illumina OmniExpress	PsychChip//Affymetrix 6.0//Illumina OmniExpress	To explore the genetic associations with immune biomarker levels in cerebrospinal fluid (CSF) and blood serum which previously showed differences in bipolar disorder, we performed a study involving 291 individuals (184 bipolar disorder patients and 107 controls). The biomarkers assayed in both CSF and serum were: chitinase-3-like protein-1 (YKL-40), monocyte chemoattractant protein-1 (MCP-1), soluble cluster of differentiation (sCD14), tissue inhibitor of metalloproteinases-1 and 2 (TIMP-1 and TIMP-2).	Bipolar Disorder	Genome
2077	32092211	9606	NA	TOCS//DSM-V	Case-control based//Family based	Illumina HumanCoreExome-12 v1.0	Illumina HumanCoreExome-12 v1.0	Our results suggest specific serotonin gene variants are associated with hoarding traits alone, differing between sexes.	Obsessive Compulsive Disorder	Genome
2078	32092211	9606	NA	TOCS//DSM-V	Case-control based//Family based	Illumina HumanCoreExome-12 v1.0	Illumina HumanCoreExome-12 v1.0	Our results suggest specific serotonin gene variants are associated with hoarding traits alone, differing between sexes.	Hoarding Disorder	Genome
2079	32107650	9606	NA	DSM-V	Case-control based	GWAS//Affymetrix Array	GWAS//Affymetrix Array	To detect novel candidate genes for osteoporosis and SCZ, we conducted MTAG analysis utilizing the Chinese GWAS summarizes of BMD, bone and SCZ.	Schizophrenia	Genome
2080	32109420	9606	Blood	Others	Case-control based	ES//Sanger Sequencing	ES//Sanger Sequencing	Recurrent somatic variants in SPOP are cancer specific; endometrial and prostate cancers result from gain-of-function and dominant-negative effects toward BET proteins, respectively. By using clinical exome sequencing, we identified six de novo pathogenic missense variants in SPOP in seven individuals with developmental delay and/or intellectual disability, facial dysmorphisms, and congenital anomalies.	Intellectual Disability	Genome
2081	32109420	9606	Blood	Others	Case-control based	Illumina//Sanger Sequencing	Illumina//Sanger Sequencing	Recurrent somatic variants in SPOP are cancer specific; endometrial and prostate cancers result from gain-of-function and dominant-negative effects toward BET proteins, respectively. By using clinical exome sequencing, we identified six de novo pathogenic missense variants in SPOP in seven individuals with developmental delay and/or intellectual disability, facial dysmorphisms, and congenital anomalies.	Intellectual Disability	Genome
2082	32114777	9606	NA	Others	Case-control based	CMA//WES//WGS	CMA//WES//WGS	Genomic studies have established the etiological importance of specific CNVs for psychiatric outcomes, with most of these CNVs associated with variable outcomes (pleiotopy) including moderate/severe intellectual disability, developmental delay, autism, tics, dyscoordination, and schizophrenia.	Intellectual Disability	Genome
2083	32135084	9606	Cell lines(Neuronal cells)	Vineland-II//CBCL//SCQ//SRS-2	Case-control based	WES	WES	DDX3X is a frequently mutated gene in both ID and cancer, yet the mechanism by which DDX3X mutations impair brain development have not yet been defined. Here, we report the largest cohort of patients with mutations in DDX3X (n=107; 101 confirmed de novo) to date, highlighting corpus callosum abnormalities and PMG as two major brain anatomic phenotypes characteristic of DDX3X syndrome, with PMG strongly linked to missense mutations and significant clinical impairment.	Intellectual Disability	Genome
2084	32152250	9606	NA	Others	Case-control based	ES//CMA//Sanger Sequencing//q-PCR	ES//CMA//Sanger Sequencing//q-PCR	Variants in TNRC6B cause a novel genetic disorder characterised by recurrent neurocognitive and behavioural phenotypes featuring DD/ID, autism, ADHD and other behavioural abnormalities	Attention-Deficit/Hyperactivity Disorder	Genome
2085	32152295	9606	NA	Others	Case-control based	GWAS	GWAS	Patients with late-onset Alzheimer's disease (LOAD) frequently manifest comorbid neuropsychiatric symptoms with depression and anxiety being most frequent, and individuals with major depressive disorder (MDD) have an increased prevalence of LOAD. This suggests shared etiologies and intersecting pathways between LOAD and MDD. We performed pleiotropy analyses using LOAD and MDD GWAS data sets from the International Genomics of Alzheimer's Project (IGAP) and the Psychiatric Genomics Consortium (PGC), respectively.	Major Depressive Disorder	Genome
2086	32152934	9606	Saliva	DSM-IV//ASI-6//MMSE//SCID-I	Case-control based	TaqMan	TaqMan	Homozygosity for rs16969968 and rs588765 major alleles was nominally associated with a risk to crack addiction (GG, P = 0.032; CC, P = 0.036, respectively).	Cocaine Addiction	Genome
2087	32169437	9606	Blood	Others	Case-control based	PCR	PCR	The SNPs SNV019 and rs4290270 of the TPH2 gene seemed to be associated with LPE in the Han population.	Premature (Early) Ejaculation	Genome
2088	32193760	9606	Blood	ICD-10	Case-control based	Sequenom MassARRAY//qRT-PCR	Sequenom MassARRAY//qRT-PCR	Schizophrenia (SCZ) and bipolar disorder (BD) are severe psychiatric disorders that share many genetic risk factors. This study aimed to investigate the association of phosphoinositide-3-kinase regulatory subunit1 (PIK3R1) gene rs3756668 and rs3730089 polymorphisms with SCZ and BD risks and determine the expression levels of PIK3R1.	Bipolar Disorder	Genome
2089	32197073	9606	NA	Others	Case-control based	Illumina HiSeq4000	Illumina HiSeq4000	The neuro-oncological ventral antigen 2 (NOVA2) protein is a major factor regulating neuron-specific alternative splicing (AS), previously associated with an acquired neurologic condition, the paraneoplastic opsoclonus-myoclonus ataxia (POMA). We report here six individuals with de novo frameshift variants in NOVA2 affected with a severe neurodevelopmental disorder characterized by intellectual disability (ID), motor and speech delay, autistic features, hypotonia, feeding difficulties, spasticity or ataxic gait, and abnormal brain MRI.	Intellectual Disability	Genome
2090	32201043<U+00A0>	9606	NA	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	We observed genetic enrichment in PD conditional on associations with SCZ, and vice versa, indicating polygenic overlap. We then leveraged this cross-trait enrichment using conditional FDR analysis and identified nine novel PD risk loci and one novel SCZ locus at conditional FDR<0.01. Further, we identified nine genomic loci jointly associated with PD and SCZ at conjunctional FDR<0.05.	Schizophrenia	Genome
2091	32214206	9606	NA	Others	Case-control based	ChIP-seq//RNA-seq//qPCR//GWAS//Meta-analysis	ChIP-seq//RNA-seq//qPCR//GWAS//Meta-analysis	Though recent genome-wide association studies (GWAS) have identified multiple risk variants for MDD, how these variants confer MDD risk remains largely unknown. Here we systematically characterize the regulatory mechanism of MDD risk variants using a functional genomics approach.	Major Depressive Disorder	Genome
2092	32220290	9606	NA	Others	Case-control based	Illumina//WES	Illumina//WES	In this report, we describe 12 individuals from nine unrelated families with 10 different bi-allelic PIGK variants. PIGK encodes a component of the GPI transamidase complex, which attaches the GPI anchor to proteins. Clinical features found in most individuals include global developmental delay and/or intellectual disability, hypotonia, cerebellar ataxia, cerebellar atrophy, and facial dysmorphisms.	Intellectual Disability	Genome
2093	32220291	9606	NA	Others	Case-control based	ES	ES	Herein we report on four unrelated individuals with bi-allelic ADARB1 variants associated with microcephaly, intellectual disability, and seizures, which were intractable in three of the individuals. These findings reinforce the importance of RNA editing in brain development and introduce ADARB1 as a genetic etiology in individuals with intellectual disability, microcephaly, and epilepsy.	Intellectual Disability	Genome
2094	32231276	9606	Blood//Brain	Others	Case-control based	GWAS	GWAS	Here we report differences in genetic architecture between depression defined by minimal phenotyping and strictly defined major depressive disorder (MDD): the former has a lower genotype-derived heritability that cannot be explained by inclusion of milder cases and a higher proportion of the genome contributing to this shared genetic liability with other conditions than for strictly defined MDD.	Major Depressive Disorder	Genome
2095	32243864	9606	Blood	Others	Case-control based	Illumina Infinium HumanMethylationEPIC850 BeadChip	Illumina Infinium HumanMethylationEPIC850 BeadChip	Weaver syndrome (WS [MIM: 277590]), an overgrowth/intellectual disability syndrome (OGID), is characterized by pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial features, and variable intellect.To identify an EZH2 DNAm signature, we generated genome-wide DNAm profiles using Infinium HumanMethylationEPIC BeadChip arrays to test DNA from blood samples of individuals with pathogenic sequence variants in EZH2 and control subjects.	Intellectual Disability	Genome
2096	32246636	9606	Blood	Others	Case-control based	Affymetrix Axiom CHB Array	Affymetrix Axiom CHB Array	In the initial analysis, the frequencies of nine of the selected SNPs differed significantly between early- and late-onset narcoleptic patients, with P values ranging from < 0.001 to 0.043 (Additional Table 3).	Narcolepsy	Genome
2097	32265436	9606	Blood	DSM-IV//SCID-I//SCID-II//CAADID, Conners 1999	Case-control based	MassARRAY MALDI-TOF iPLEX//Machine Learning	MassARRAY MALDI-TOF iPLEX//Machine Learning	With a prediction accuracy above 0.8, the findings underlying the proposed model advocate the relevance of the SERT as well as the HTR1B and HTR2A genes in ADHD and hint towards disease-specific effects.	Attention-Deficit/Hyperactivity Disorder	Genome
2098	32293671	9606	Blood	Others	Case-control based	Illumina HiSeq4000//Sanger Sequencing	Illumina HiSeq4000//Sanger Sequencing	GALNT2 is widely expressed in most cell types and directs initiation of mucin-type protein O-glycosylation. Patients with GALNT2-CDG generally exhibit a syndrome characterized by global developmental delay, intellectual disability. We comprehensively describe the clinical, biochemical, and molecular characteristics of a total of seven patients with GALNT2-CDG. In particular, we confirm the loss of plasma apoC-III O-glycosylation as a robust biomarker assay for the disorder.	Intellectual Disability	Genome
2099	32325768	9606	Blood	DSM-V	Family based	Illumina//Sanger Sequencing	Illumina//Sanger Sequencing	A novel cosegregating splice site variant in the Dynactin-1 (DCTN1) gene was discovered by Next Generation Sequencing (NGS) in a family with a history of bipolar disorder (BD) and major depressive diagnosis (MDD).	Bipolar Disorder	Genome
2100	32329304	9606	NA	DSM-IV	Case-control based	Pyrosequencing//PCR//Sequenom MassArray	Pyrosequencing//PCR//Sequenom MassArray	A novel cosegregating splice site variant in the Dynactin-1 (DCTN1) gene was discovered by Next Generation Sequencing (NGS) in a family with a history of bipolar disorder (BD) and major depressive diagnosis (MDD).	Bipolar Disorder	Genome
2101	32330417	9606	NA	Others	Case-control based	WGS//Sanger Sequencing	WGS//Sanger Sequencing	We identified three unrelated individuals with de novo missense variants in CDK19, encoding a cyclin-dependent kinase protein family member that predominantly regulates gene transcription. These individuals presented with hypotonia, global developmental delay, epileptic encephalopathy, and dysmorphic features.	Intellectual Disability	Genome
2102	32345981	9606	Blood//Saliva	DSM-IV	Family based	Illumina//NextSeq500//Sanger Sequencing	Illumina//NextSeq500//Sanger Sequencing	Here, we combined high-throughput genotyping data and whole-exome sequencing in cohorts of individuals with BD as well as in multiplex families with a high density of affected individuals in order to determine the contribution of both common and rare variants to BD genetic vulnerability. We identified four genes with a higher mutation rate in individuals with BD than in the general population and showed that mutations in two of them were associated with specific clinical manifestations.	Bipolar Disorder	Genome
2103	32377000	9606	NA	Others	Case-control based	GWAS	GWAS	Glycosylation is a fundamental biological process implicated in nearly all cellular pathways and most disease states.Schizophrenia GWAS have identified genome-wide significant variants within several genes encoding glycosylation enzymes.	Schizophrenia	Genome
2104	32398653	9606	Brain(Dorsolateral prefrontal cortex)//Blood	DSM//ICD-10	Case-control based//Family based	TWAS//Meta-analysis	TWAS//Meta-analysis	Supplementary Table 4c - Transcriptome-wide association study  of schizophrenia associated genes significant in at least one other psychiatric disorder using DLPFC SNP weights: ADHD results	Attention-Deficit/Hyperactivity Disorder	Genome
2105	32398668	9606	Blood//Saliva	DSM-IV//DSM-III-R	Case-control based//Family based	Illumina PsychChip	Illumina PsychChip	We used PennCNV to call large (>200 kb) CNVs and identified those calls that were present in the proband and absent in both biological parents. In 305 parent–offspring trios, we detected 14 de novo CNVs in 13 probands, giving a mutation rate of 4.6% and a per individual rate of 4.3%. This rate is higher than published reports in controls and similar to those observed for ASD, schizophrenia and Tourette disorder. We also identified de novo mutations at four genomic loci (15q13.1–13.2 duplication, 16p13.11 duplication, 16p12.2 deletion and 22q11.21 duplication) that have previously been implicated in other neurodevelopmental disorders, two of which (16p13.11 and 22q11.21) have also been implicated in case–control ADHD studies. Our study complements ADHD case–control genomic analyses and demonstrates the need for larger parent–offspring trio genetic studies to gain further insights into the complex aetiology of ADHD.	Attention-Deficit/Hyperactivity Disorder	Genome
2106	32398722	9606	NA	Others	Case-control based	GWAS	GWAS	Substantial genetic liability is shared across psychiatric disorders but less is known about risk variants that are specific to a given disorder. We used multi-trait conditional and joint analysis (mtCOJO) to adjust GWAS summary statistics of one disorder for the effects of genetically correlated traits to identify putative disorder-specific SNP associations.	Autism Spectrum Disorder	Genome
2107	32398722	9606	NA	Others	Case-control based	GWAS	GWAS	Substantial genetic liability is shared across psychiatric disorders but less is known about risk variants that are specific to a given disorder. We used multi-trait conditional and joint analysis (mtCOJO) to adjust GWAS summary statistics of one disorder for the effects of genetically correlated traits to identify putative disorder-specific SNP associations.	Bipolar Disorder	Genome
2108	32398722	9606	NA	Others	Case-control based	GWAS	GWAS	Substantial genetic liability is shared across psychiatric disorders but less is known about risk variants that are specific to a given disorder. We used multi-trait conditional and joint analysis (mtCOJO) to adjust GWAS summary statistics of one disorder for the effects of genetically correlated traits to identify putative disorder-specific SNP associations.	Schizophrenia	Genome
2109	32415109	9606	NA	Others	Case-control based	WES	WES	Here we provide the evidence of a causal relationship between variants in KIF21B and neurodevelopmental disorders. We report the identification of three missense variants and one truncating variant in patients with neurodevelopmental delay and brain malformations including corpus callosum (CC) agenesis (ACC) and microcephaly.Taken together our data suggest that KIF21B is a novel gene for ID associated with heterogeneous brain morphological anomalies.	Neurodevelopmental Disorders	Genome
2110	32450113	9606	NA	DSM-IV	Case-control based	Genotyping	Genotyping	In this review, we summarize the accomplishments and limitations of current BD GWAS, and discuss potential reasons for the “missing heritability.” In addition, progresses of research for the biological mechanisms underlying BD genetic risk using brain tissues, reprogrammed cells, and model animals are reviewed.	Bipolar Disorder	Genome
2111	32457073	9606	NA	DSM-IV	Case-control based	GWAS	GWAS	After correction for multiple testing, we found significant associations between a missense mutation in the NDUFB9 gene (rs34095749) with CD in African-Americans and a missense mutation in the KCTD20 gene (rs2239808) with CD in European-Americans (Table 1).	Cocaine Addiction	Genome
2112	32492095	9606	NA	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	In this genome-wide association study, meta-analysis of 10 544 individuals of European ancestry with opioid use disorder and 72 163 opioid-exposed control individuals identified OPRM1 functional variant rs1799971 as associated with opioid use disorder, with replication in 2 independent samples	Opioid Use Disorder	Genome
2113	32538895	9606	Blood	DSM-V	Case report//Family based	Illumina HiSeq 4000//PCR	Illumina HiSeq 4000//PCR	The variants led to functional alterations in the circadian molecular rhythms, providing a mechanistic link to the behavioral symptoms. One variant, CRY1Δ11 c.1657+3A>C, is present in approximately 1% of Europeans, therefore standing out as a diagnostic and therapeutic marker.	Attention-Deficit/Hyperactivity Disorder	Genome
2114	32544712	9606	Blood	DSM-IV	Case-control based	PCR//Sanger Sequencing	PCR//Sanger Sequencing	Table 2. CADM1 genetic variants in 51 female patients with restricting subtype anorexia nervosa.	Anorexia Nervosa	Genome
2115	32553385	9606	Blood	DSM-IV-TR	Case-control based	TaqMan//Pyrosequencing	TaqMan//Pyrosequencing	We  aimed to examine the relationship among various subtypes of child abuse, rs1360780, and the DNAm level of FKBP5 intron 7.	Bipolar Disorder	Genome
2116	32580785	9606	Blood	PDQ-4//BIS-11//CTQ-SF	Case-control based	PCR	PCR	Among the high-risk samples, rs53576 GG genotype carriers had higher BPD scores at higher levels of physical abuse and sexual abuse and had lower BPD scores at lower levels of physical abuse and sexual abuse.	Borderline Personality Disorder	Genome
2117	32606422	9606	NA	Others	Case-control based	GWAS	GWAS	In this meta-analysis study, we performed a series of independent and joint analyzes of SCZ, BD, ASD, ADHD, and DEP. In addition to identification of novel variants and those identified by the GWASs, we also explored the genetic correlation and the overlap of risk genes among the five psychiatric disorders.	Bipolar Disorder	Genome
2118	32616021	9606	Blood	DSM-IV	Case-control based	Illumina Infinium Global Screening Array	Illumina Infinium Global Screening Array	Our findings from a multi-tissue (blood and brain) and multi-layered (genetic, epigenetic, transcriptomic) approach suggest that genetic factors may influence depression by modulating DNAm and miRNA levels. Alterations at HACE1 and SHANK2 loci imply potential mechanisms, such as oxidative stress in the brain, underlying depression. Our results deepened the knowledge of molecular mechanisms in depression and suggest new epigenetic targets that should be further evaluated.	Major Depressive Disorder	Genome
2119	32633875	9606	NA	Others	Case report	WES	WES	The patient had >100 dystonia-atonia spells per day with mild cerebellar atrophy. She also had autism spectrum disorder, intellectual disability, and attention deficit hyperactivity disorder. Whole-exome sequencing identified a heterozygous de novo BK N536H mutation	Attention-Deficit/Hyperactivity Disorder	Genome
2120	32658972	9606	NA	Others	Case-control based	WES	WES	Through trio exome sequencing, we identified six children with NDD and DNM in SLC12A2.	Neurodevelopmental Disorders	Genome
2121	32697718	9606	Blood	SCID-IV	Family based	WES	WES	This is the first WES study of BD in an Afrikaner family, and findings suggest that novel candidate genes may contribute to risk for BD in this population. Two rare and potentially damaging missense variants in FAM71B and SLC26A9 were shared by affected family members but were absent in unaffected members.	Bipolar Disorder	Genome
2122	32719466	9606	NA	Others	Case-control based	Meta-analysis	Meta-analysis	Our findings show that the known high-risk CNVs are not only associated with schizophrenia and other neurodevelopmental disorders, but are also a contributing factor to impairment in cognitive domains such as memory and perceptual reasoning, and act as intermediate biomarkers of disease risk.	Schizophrenia	Genome
2123	32755611	9606	NA	Others	Case-control based	NGS	NGS	We obtained a total of 420 references (Figure 1) to which other 3 relevant articles found through bibliography search were added. After title and abstract review, 119 articles were further selected for full-text review. The detailed review of those articles allowed excluding 72 articles due to absence of BDII patients or information. Forty seven articles were then included in the final review.	Bipolar I Disorder	Genome
2124	32755611	9606	NA	Others	Case-control based	NGS	NGS	We obtained a total of 420 references (Figure 1) to which other 3 relevant articles found through bibliography search were added. After title and abstract review, 119 articles were further selected for full-text review. The detailed review of those articles allowed excluding 72 articles due to absence of BDII patients or information. Forty seven articles were then included in the final review.	Bipolar II Disorder	Genome
2125	32755611	9606	NA	Others	Case-control based	NGS	NGS	We obtained a total of 420 references (Figure 1) to which other 3 relevant articles found through bibliography search were added. After title and abstract review, 119 articles were further selected for full-text review. The detailed review of those articles allowed excluding 72 articles due to absence of BDII patients or information. Forty seven articles were then included in the final review.	Bipolar Disorder	Genome
2126	32757697	9606	Blood	DSM-IV	Case-control based	Illumina GoldenGate	Illumina GoldenGate	Twelve SNPs in seven genes showed a nominally significant association with OD. Experiment-wise significant associations (p < 0.05) were found for three SNP pairs	Heroin Addiction	Genome
2127	32791513	9606	Blood	DSM-IV	Case-control based	SNaPShot//Sanger Sequencing//Meta-analysis	SNaPShot//Sanger Sequencing//Meta-analysis	We herein report that the leading risk locus for BD in European genome-wide association studies (GWAS), the single-nucleotide polymorphism (SNP) rs9834970 near TRANK1 at 3p22 region, is also genome-wide significantly associated with BD in a meta-analysis of four independent East Asian samples including 5748 cases and 65,361 controls (p=2.27×10-8, odds ratio=1.136).	Bipolar Disorder	Genome
2128	32816001	9606	Blood	Others	Family based	Sanger Sequencing	Sanger Sequencing	The X-linked CSTF2 gene is essential for embryonic growth and developmen.CSTF2D50A mutation affects primarily intellectual functions and speech development in the affected males.	Intellectual Disability	Genome
2129	32826963	9606	NA	Others	Case-control based	GWAS//Dual Luciferase Reporter Assay//CRISPR Interference Experiment	GWAS//Dual Luciferase Reporter Assay//CRISPR Interference Experiment	We experimentally revealed that BD-related eQTL SNPs rs10865973, rs12635140, and rs4687644 regulate GNL3 expression using dual luciferase reporter assay and CRISPR interference experiment in human neural progenitor cells.	Bipolar Disorder	Genome
2130	32828023	9606	Blood	CTQ//PDQ-4	Case-control based	PCR//massARRAY Sequenom assay	PCR//massARRAY Sequenom assay	Regression analysis revealed that emotional abuse, NOS1AP SNPs rs348624 and rs4145621 predicted PPD features (P < 0.05) among prison samples. Significant interactions between childhood abuse history and NOS1AP SNPs rs3751284 and rs6680461 were also observed	Paranoid Personality Disorder	Genome
2131	32929213	9606	Cell lines(NPCs)	Others	Case-control based	Illumina NextSeq500//Luciferase reporter//EMSA	Illumina NextSeq500//Luciferase reporter//EMSA	We examined three published lists of SCZ candidate genes.	Schizophrenia	Genome
2132	32941385	9606	NA	Others	Case-control based	TaqMan	TaqMan	Our findings suggested a sex-specific effect of ZNF804A rs1344706 polymorphism on cognitive function in patients with bipolar disorder-I.	Bipolar I Disorder	Genome
2133	32961455	9606	NA	ICD-9//ICD-10	Case-control based	GWAS//Illumina Multi-Ethnic Global	GWAS//Illumina Multi-Ethnic Global	Based on the defined LD block of these two SNPs, there are 178 candidate SNPs within the linkage disequilibrium region with these two SNPs, and 37 SNPs were tagged in our GWAS (Supplemental Table S2).	Opioid Use Disorder	Genome
2134	32998065	9606	Hair//Blood	Others	Case-control based	UPLC-ESI-MS//MS//RT-PCR	UPLC-ESI-MS//MS//RT-PCR	Genetic wise, a significant difference has been observed for SNP rs4263329 from the BCHE gene with higher frequencies of the genotypes A/G and G/G seen in cocaine users	Drug Abuse	Genome
2135	32998065	9606	Hair//Blood	Others	Case-control based	UPLC-ESI-MS//MS//RT-PCR	UPLC-ESI-MS//MS//RT-PCR	Likewise, also SNP rs6280 from the DRD3 gene presented a significant association, with both genotypes T/C and C/C being more frequent in users	Drug Abuse	Genome
2136	33042910	9606	Blood	WISC-I//CY-BOSH//MASC//CDI//SCOD-IV	Case report	CytoSure ISCA 8×60k Array	CytoSure ISCA 8×60k Array	Here, we report a child presenting with neuropsychiatric disturbances including notable behavioral disorders consisting of frequent and severe outbursts of impulsivity, aggressivity, and hyperactivity suggestive of the diagnosis of “disruptive, impulse-control, and conduct disorder (CD)” and TS. Moreover, the child exhibited minor facial features, mild ID, language impairment, and epileptic seizures. Molecular investigation carried out by array comparative genomic hybridization (aCGH) revealed a CNV deletion spanning 95.4 kb in intron 1 of CNTNAP2 gene inherited from a healthy father. A possible causative link between the deletion of a non-coding regulatory region and the clinical manifestations observed in the boy has been raised.	Conduct Disorder	Genome
2137	33057169	9606	Blood	WISC//WAIS	Case-control based	Illumina HumanHap//Illumina OmniExpress Human CoreExome//Illumina BeadChips//Illumina 1.2M//Meta-analysis	Illumina HumanHap//Illumina OmniExpress Human CoreExome//Illumina BeadChips//Illumina 1.2M//Meta-analysis	Table2 Most significant single-variant associations (p < 5 × 10 7) detected in the present GWAS.	Developmental Dyslexia	Genome
2138	33068816	9606	Blood	DSM-IV//SNAP-IV	Case-control based	Sequenom MassARRAY	Sequenom MassARRAY	Our results revealed the association of GRM4 rs1906953 and GRM7 rs9826579 with ADHD. Moreover, we found that rs1906953 disturbs the transcriptional activity of GRM4	Attention-Deficit/Hyperactivity Disorder	Genome
2139	33068816	9606	Blood	DSM-V//SNAP-IV	Case-control based	Sequenom MassARRAY	Sequenom MassARRAY	Our results revealed the association of GRM4 rs1906953 and GRM7 rs9826579 with ADHD. Moreover, we found that rs1906953 disturbs the transcriptional activity of GRM4	Attention-Deficit/Hyperactivity Disorder	Genome
2140	33073849	9606	NA	Others	Case report	ES//Sanger Sequencing//Dual Luciferase Reporter Gene Assay	ES//Sanger Sequencing//Dual Luciferase Reporter Gene Assay	De novo variants in MPP5 cause global developmental delay and behavioral changes	Global Developmental Delay	Genome
2141	33096046	9606	NA	DSM-IV//DSM-III-R	Case-control based	GWAS//Meta-analysis//Genotyping	GWAS//Meta-analysis//Genotyping	We identified two genome-wide significant loci: a novel chromosome 7 locus (FOXP2, lead single-nucleotide polymorphism [SNP] rs7783012; odds ratio [OR] 1·11, 95% CI 1·07–1·15, p=1·84 × 10 9) and the previously identified chromosome 8 locus (near CHRNA2 and EPHX2, lead SNP rs4732724; OR 0·89, 95% CI 0·86–0·93, p=6·46 × 10 9).	Cannabis Use Disorder	Genome
2142	33130023	9606	NA	Others	Case report	Illumina TruSeq//Illumina HiSeq 4000	Illumina TruSeq//Illumina HiSeq 4000	We add another patient with a previously reported nonsense variant in the NFIB who has Autism Spectrum Disorder level 2, agenesis of the corpus callosum, ADHD, obsessive compulsive Disorder and an intellectual disability. A clinical exome analysis identified a nonsense variant, c.265C > T, p.(Arg89*) involving exon 2 of NFIB (ClinVar variation ID: 424,344).	Attention-Deficit/Hyperactivity Disorder	Genome
2143	33169155	9606	NA	DSM-IV	Case-control based	GWAS//Affymetrix	GWAS//Affymetrix	We have demonstrated that published findings for SCZ and BIP are robustly generalizable to a diverse cohort of US veterans. Leveraging available summary statistics from GWAS of global populations, we report 52 new susceptibility loci and improved fine-mapping resolution for dozens of previously reported associations.	Bipolar Disorder	Genome
2144	33172359	9606	Blood	ICD-10	Family based	Illumina Linkage IV Panel//aCGH	Illumina Linkage IV Panel//aCGH	We describe a new locus for familial dyslexia and discuss the possibility that SPRY1 might play a role in the etiology of a monogenic form of dyslexia.	Developmental Dyslexia	Genome
2145	33193575	9606	Blood	ICD-10	Case-control based	Ion AmpliSeq	Ion AmpliSeq	In the present study, the six genes were sequenced in a cohort of 19 patients with bipolar affective disorder, 41 patients with recurrent depressive disorder, and 55 patients with depressive episode. The study revealed a number of genetic variants associated with antidepressant treatment response, time to recurrence of episodes, and depression severity.	Bipolar Disorder	Genome
2146	33193575	9606	NA	Others	Case-control based	Ion Torrent	Ion Torrent	In the present study, the six genes were sequenced in a cohort of 19 patients with bipolar affective disorder, 41 patients with recurrent depressive disorder, and 55 patients with depressive episode. The study revealed a number of genetic variants associated with antidepressant treatment response, time to recurrence of episodes, and depression severity.	Bipolar Disorder	Genome
2147	33204724	9606	Blood	Others	Case report	WES	WES	In this study, we report a patient with ASD whose clinical features included social interaction disorder, communication disorder, and repetitive behavior.	Autism Spectrum Disorder	Genome
2148	33232675	9606	Blood	Others	Family based	ES	ES	SWI/SNF-related intellectual disability disorders (SSRIDDs) are rare neurodevelopmental disorders. We have identified 12 individuals with rare variants (10 loss-of-function, 2 missense) in the BICRA (BRD4 interacting chromatin remodeling complex-associated protein) gene, also known as GLTSCR1, which encodes a subunit of the non-canonical BAF (ncBAF) complex. These individuals exhibited neurodevelopmental phenotypes that include developmental delay, intellectual disability, autism spectrum disorder, and behavioral abnormalities as well as dysmorphic features.	Intellectual Disability	Genome
2149	33234429<U+00A0>	9606	Blood	DSM-IV	Case-control based	Illumina Xten//Sanger Sequencing	Illumina Xten//Sanger Sequencing	A total of 175 variants were identified in our study, including 13 rare nonsynonymous variants that occurred only in the SCZ cohort but not appeared in health controls. All of these 13 variants were confirmed by Sanger sequencing.	Schizophrenia	Genome
2150	33235206	9606	Blood	DSM-III-R	Family based	Illumina//Qpcr	Illumina//Qpcr	Previously, we reported a family in which bipolar disorder (BD) co-segregates with a Mendelian kidney disorder linked to 1q22. The causative renal gene was later identified as MUC1. Genome-wide linkage analysis of BD in the family yielded a peak at 1q22 that encompassed the NTRK1 and MUC1 genes. NTRK1 codes for TrkA (Tropomyosin-related kinase A) which is essential for development of the cholinergic nervous system. Whole genome sequencing of the proband identified a damaging missense mutation, E492K, in NTRK1.	Bipolar Disorder	Genome
2151	33239738	9606	NA	IRLSSG//CH-RLSq	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	We confirm 19 of the 20 previously reported RLS sequence variants at 19 loci and report three novel RLS associations; rs112716420-G (OR = 1.25, P = 1.5 × 10 18), rs10068599-T (OR = 1.09, P = 6.9 × 10 10) and rs10769894-A (OR = 0.90, P = 9.4 × 10 14).	Restless Legs Syndrome	Genome
2152	33246552	9606	NA	Others	Case-control based	RNA-seq//ATAC-seq//Luciferase Reporter Assay//Chromatin Conformation Capture//Gene Editing	RNA-seq//ATAC-seq//Luciferase Reporter Assay//Chromatin Conformation Capture//Gene Editing	These results together suggest that rs4420550 is a functional risk variation, and this study illustrates an example of comprehensive functional characterization of schizophrenia GWAS risk loci.	Schizophrenia	Genome
2153	33263727	9606	NA	DSM-IV	Case-control based	Illumina Infinium Global Screening Array//Illumina Infinium Global Screening Array//Meta-analysis	Illumina Infinium Global Screening Array//Illumina Infinium Global Screening Array//Meta-analysis	In this genome-wide association study of 6472 individuals of Han Chinese ancestry (1822 cases and 4650 controls), several novel risk loci for BD were found, and trans-ancestry genetic correlation estimation and polygenic risk score analyses of Han Chinese and European individuals suggested a shared genetic risk of BD.	Bipolar Disorder	Genome
2154	33323470	9606	NA	Others	Case report	Illumina HiSeq//aCGH//Sanger Sequencing//BioID//Single-cell Gel Electrophoresis	Illumina HiSeq//aCGH//Sanger Sequencing//BioID//Single-cell Gel Electrophoresis	We identified three new unrelated MRD57 families. Two were sporadic and caused by a missense change (c.1652A>G; p.(Asp551Gly)) or a 39 kb deletion encompassing TLK2, and one was familial with three affected siblings who inherited a nonsense change from an affected mother (c.1423G>T; p.(Glu475Ter)). The clinical phenotypes were consistent with those of previously reported cases. The tested mutations strongly impaired TLK2 kinase activity. Proximal interactions between TLK2 and other factors implicated in neurological disorders, including CHD7, CHD8, BRD4 and NACC1, were identified. Finally, we demonstrated a more relaxed chromatin state in lymphoblastoid cells harbouring the p.(Asp551Gly) variant compared with control cells, conferring susceptibility to DNA damage.	Neurodevelopmental Disorders	Genome
2155	33329073	9606	Blood	Others	Case-control based	qRT-PCR	qRT-PCR	Whose pleiotropic associations with AUD and SCZ are consistent with mediation via gene	Alcohol Use Disorder	Genome
2156	33329073	9606	Blood	Others	Case-control based	qRT-PCR	qRT-PCR	Expression in the prefrontal cortex	Alcohol Use Disorder	Genome
2157	33361104	9606	NA	Others	Case report	GS	GS	Seven subjects had a chromosome 17q21.31 deletion, which was of about 0.5 Mb in six and of 0.9 Mb in one (subject no. 11). Two patients (subject nos. 2 and 48) had a loss-of function mutation in the KANSL1 gene, consisting of p.R929Gfs*44 and p.P667Lfs*3, respectively.	Intellectual Disability	Genome
2158	33384710	9606	Blood	DSM-V	Case-control based	WES	WES	Rare and novel variants of ADHD genes identified by exome sequencing in the 8 Saudi Arabian ADHD patients. Supplementary Table 1: Rare and novel variants of ADHD genes identified by exome sequencing in the 8 Saudi Arabian ADHD patients.	Attention-Deficit/Hyperactivity Disorder	Genome
2159	33397746	9606	Cell lines(Leucocytes)	Others	Case report	Illumina 850K//llumina NextSeq550	Illumina 850K//llumina NextSeq550	We identified five patients from four unrelated families with homozygous ZNF526 variants by whole exome sequencing. Four had variants resulting in truncation of ZNF526; they were affected by severe prenatal and postnatal microcephaly (ranging from -4 SD to -8 SD), profound psychomotor delay, hypertonic-dystonic movements, epilepsy and simplified gyral pattern on MRI. All of them also displayed bilateral progressive cataracts. A fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe intellectual disability and unremarkable brain MRI.Mutant znf526 zebrafish larvae had notable malformations of the eye and central nervous system, resembling findings seen in the human holoprosencephaly spectrum.	Neurodevelopmental Disorders	Genome
2160	33397746	9606	Cell lines(Leucocytes)	Others	Case report	Illumina HiSeq2500	Illumina HiSeq2500	We identified five patients from four unrelated families with homozygous ZNF526 variants by whole exome sequencing. Four had variants resulting in truncation of ZNF526; they were affected by severe prenatal and postnatal microcephaly (ranging from -4 SD to -8 SD), profound psychomotor delay, hypertonic-dystonic movements, epilepsy and simplified gyral pattern on MRI. All of them also displayed bilateral progressive cataracts. A fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe intellectual disability and unremarkable brain MRI.Mutant znf526 zebrafish larvae had notable malformations of the eye and central nervous system, resembling findings seen in the human holoprosencephaly spectrum.	Neurodevelopmental Disorders	Genome
2161	33414502	9606	NA	Others	Case-control based	GWAS	GWAS	Recent large-scale genome-wide association studies (GWAS) conducted by the Science Genetic Association Consortium  linked genetic variation in some PDE genes with multiple measures of human cognitive function. Single-nucleotide polymorphisms (SNPs) found in PDE1C, PDE2A, PDE4B, and PDE4D reached genome-wide significance with educational attainment and cognitive performance. Of note, in this study, the highest statistical significance was reached by SNP rs72962169 in the PDE2A gene for GWAS.	Neurodevelopmental Disorders	Genome
2162	33420346	9606	Cell lines(Lymphoblastoid)//Fibroblast	Others	Family based	ES//Sanger Sequencing	ES//Sanger Sequencing	Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay	Global Developmental Delay	Genome
2163	33452587	9606	Blood	DSM-IV-TR	Case-control based	RT-qPCR//RFLP-analysis	RT-qPCR//RFLP-analysis	According to our results, ASPD in Turkish society is associated with the SLC6A4 gene expression levels, though the distributions of 5-HTTLPR polymorphisms are not diferent.	Borderline Personality Disorder	Genome
2164	33453761	9606	NA	ICD-10	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	We found two loci at chromosome 6 and chromosome 13 significantly associated with nocturnal enuresis. Six genetic variants at the two loci (five variants at chromosome 6q16.2 and one variant at chromosome 13q22.3) surpassed the threshold for genome-wide significance (p	Enuresis	Genome
2165	33479212	9606	Blood//Saliva	ICD-10	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	Supplementary Table 3-1. The lead SNP of all the genome-wide significant loci from MTAG analysis of ADHD.	Attention-Deficit/Hyperactivity Disorder	Genome
2166	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16342 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2167	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16319 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2168	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16328 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2169	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16346 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2170	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16321 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2171	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16316 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2172	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16331 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2173	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16340 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2174	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16304 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2175	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16310 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2176	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16324 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2177	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16312 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2178	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16322 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2179	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16347 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2180	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16332 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2181	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16302 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2182	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16303 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2183	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16318 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2184	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16348 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2185	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16315 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2186	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16313 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2187	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16323 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2188	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16325 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2189	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16344 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2190	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16343 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2191	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16327 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2192	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16341 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2193	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16329 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2194	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16336 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2195	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16335 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2196	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16337 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2197	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16339 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2198	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16338 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2199	33479212	9606	Blood//Brain	Others	Case-control based	GWAS//Meta-analysis//Illumina HumanHap//Illumina Infinium Global Screening Array	GWAS//Meta-analysis//Illumina HumanHap//Illumina Infinium Global Screening Array	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16354 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Major Depressive Disorder	Genome
2200	33479212	9606	Blood//Brain	Others	Case-control based	GWAS//Meta-analysis//Illumina HumanHap//Illumina Infinium Global Screening Array	GWAS//Meta-analysis//Illumina HumanHap//Illumina Infinium Global Screening Array	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16353 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Major Depressive Disorder	Genome
2201	33479212	9606	Blood//Brain	Others	Case-control based	GWAS//Meta-analysis//Illumina HumanHap//Illumina Infinium Global Screening Array	GWAS//Meta-analysis//Illumina HumanHap//Illumina Infinium Global Screening Array	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16351 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Major Depressive Disorder	Genome
2202	33479212	9606	Blood//Brain	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS	GWAS	We performed multi-trait joint analyses and meta-analysis across five neuropsychiatric disorders based on their summary statistics from the Psychiatric Genomics Consortium (PGC), and further carried out a replication study of ADHD among 2726 cases and 16299 controls in an independent pediatric cohort. In the multi-trait joint analyses, we found five novel genome-wide significant loci for ADHD, one novel locus for BIP, and ten novel loci for MDD.	Bipolar Disorder	Genome
2203	33483693	9606	Blood	ICD-10	Case-control based	Illumina GSA-MD SNP Array	Illumina GSA-MD SNP Array	Here, we test the utility of targeting the severe end of the MDD spectrum through genome-wide SNP genotyping of 2725 cases who received electroconvulsive therapy (ECT) for a major depressive episode (MDE) and 4035 controls. A subset of cases (n = 1796) met a narrow case definition (MDE occurring in the context of MDD).	Major Depressive Disorder	Genome
2204	33483695	9606	Blood	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	We assessed the burden of rare, protein-altering, single nucleotide variants classified as pathogenic or likely pathogenic (P-LP) both exome-wide and within several groups of genes with phenotypic or biologic plausibility in BD. While we observed an increased burden of rare coding P-LP variants within 165 genes identified as BD GWAS regions in 3,987 BD cases (meta-analysis OR=1.9, 95% CI=1.3–2.8, one-sided p=6.0×10-4), this enrichment did not replicate in an additional 9,929 BD cases and 14,018 controls (OR=0.9, one-side p=0.70).	Bipolar Disorder	Genome
2205	33499851	9606	Blood	Others	Case-control based	ARMS-PCR	ARMS-PCR	Our findings indicate that the PICK1 gene polymorphism might affect the risk of methamphetamine dependency in our population.	Methamphetamine Use Disorder	Genome
2206	33510476	9606	NA	DSM-V	Case-control based	Affymetrix Axiom Biobank Array//Meta-analysis	Affymetrix Axiom Biobank Array//Meta-analysis	Applying genome-wide multiple testing correction, we identified three significant loci in European case-control analyses and 15 loci in quantitative symptom analyses.	Posttraumatic Stress Disorder	Genome
2207	33526774	9606	NA	Others	Case-control based	ExpandionHunter v3.0.2	ExpandionHunter v3.0.2	The range of genetic variation with potential clinical implications in schizophrenia, beyond rare copy number variants (CNVs), remains uncertain. We therefore analyzed genome sequencing data for 259 unrelated adults with schizophrenia from a well-characterized community-based cohort previously examined with chromosomal microarray for CNVs (none with 22q11.2 deletions).	Schizophrenia	Genome
2208	33531474	9606	Saliva	CBCL-OCS	Family based	Meta-analysis//Genotyping	Meta-analysis//Genotyping	A locus tagged by rs7856850 in an intron of PTPRD (protein tyrosine phosphatase δ) was significantly associated with OC traits at the genome-wide significance level (p = 2.48 × 10 8).	Obsessive Compulsive Disorder	Genome
2209	33558674	9606	Brain	Others	Case-control based	Illumina HiSeq2500//Illumina Genome-wide SNP Array	Illumina HiSeq2500//Illumina Genome-wide SNP Array	Here we investigate expressed genes and gene transcripts in postmortem subgenual anterior cingulate cortex (sgACC), a key component of limbic circuits linked to mental illness.	Bipolar Disorder	Genome
2210	33562675	9606	Oral mucosa	DSM-IV//SCID-I//LEC	Case-control based	TaqMan	TaqMan	The Glucocorticoid Receptor Gene (NR3C1) 9β SNP Is Associated with Posttraumatic Stress Disorder	Posttraumatic Stress Disorder	Genome
2211	33579389	9606	Cell lines(Lymphoblast)//Brain	Others	Case-control based	WGS//Sanger Sequencing//RT-PCR//Western Blotting	WGS//Sanger Sequencing//RT-PCR//Western Blotting	Overall, our data indicate that rare missense mutations in VPS13C are associated with LBD and recessive compound heterozygous missense mutations might have variable effects on the expression and functioning of VPS13C.	Neurocognitive Disorder With Lewy Bodies	Genome
2212	33597717	9606	Blood(Lymphocytes)	Others	Case report	aCGH//Illumina HiSeq4000	aCGH//Illumina HiSeq4000	Here, the index case is an 18-year-old boy, who at 14 years of age had a decline in cognitive functioning over the course of a year and subsequently presented with catatonia, auditory and visual hallucinations, paranoia, aggression, mood dysregulation, and disorganized thoughts.	Catatonia	Genome
2213	33632302	9606	Blood(Lymphocytes)	Others	Case report	Illumina NextSeq	Illumina NextSeq	Whole exome or genome sequencing of two families with a neuro-developmental syndrome, variable microcephaly and cataracts revealed biallelic variants in COPB1, which encodes the beta-subunit of COPI (β-COP).We present a new recessive coatopathy typified by severe developmental delay and cataracts and variable microcephaly.	Intellectual Disability	Genome
2214	33662638	9606	Blood	RLSQ	Family based	GWAS//WES//Affymetrix 250K NspI Panel	GWAS//WES//Affymetrix 250K NspI Panel	Linkage analysis with subsequent association study of exome variants identified six new genes associated with RLS mapped on 7q21 and q22.	Restless Legs Syndrome	Genome
2215	33686213	9606	NA	Others	Case-control based	RNA-seq	RNA-seq	Briefly, to explore the potential mechanisms underlying the schizophrenia GWAS locus at 10q24.32, which contains numerous genome-wide significant risk SNPs spanning multiple genes, Li et al. performed junction analysis of RNA-seq data in human DLPFC tissues. They showed that the junction skipping exon 2 and 3 of AS3MT (referred as AS3MTd2d3) was significantly associated with the schizophrenia risk SNP rs7085104.	Schizophrenia	Genome
2216	33686288	9606	NA	Others	Case-control based	GWAS	GWAS	Psychiatric disorders are highly genetically correlated, but little research has been conducted on the genetic differences between disorders. We developed a new method (case-case genome-wide association study; CC-GWAS) to test for differences in allele frequency between cases of two disorders using summary statistics from the respective case-control GWAS, transcending current methods that require individual-level data.	Bipolar Disorder	Genome
2217	33710305	9606	Blood	ICSD-3	Family based	PCR//Illumina MiSeq//Flow-cytometry Analyses	PCR//Illumina MiSeq//Flow-cytometry Analyses	We confirmed that the P2RY11 polymorphism rs2305795 is associated with NT1 also in a mainly H1N1-(Pandemrix)-vaccinated cohort.	Narcolepsy	Genome
2218	33729739	9606	NA	Others	Case-control based	WES	WES	Combining family-based linkage analysis with next-generation sequencing data is effective for identifying putative disease genes and specific risk variants in complex disorders. We identified rare missense variants in ANK3, PCDH15 and NRBF2 that could confer disease risk, providing valuable targets for functional characterization.	Bipolar Disorder	Genome
2219	33737121	9606	Blood	DSM-IV//DSM-V//SCL-90R//EDI-2	Case-control based	MassArray iPlex Gold	MassArray iPlex Gold	Table 2. Single nucleotide polymorphisms that showed associations with the risk of Anorexia Nervosa (AN)	Anorexia Nervosa	Genome
2220	33743206	9606	NA	Others	Case report	GWAS//ES//Western Blotting//qPCR	GWAS//ES//Western Blotting//qPCR	Loss-of-function variants in genes encoding the complex components CUL4 and PHIP have been reported to cause syndromic intellectual disability with hypotonia and obesity, but no phenotype has been reported in association with DDB1 variants. Here, we report eight unrelated individuals, identified through Matchmaker Exchange, with de novo monoallelic variants in DDB1, including one recurrent variant in four individuals.	Intellectual Disability	Genome
2221	33772305	9606	NA	Others	Case-control based	GWAS//ETWAS	GWAS//ETWAS	We applied ETWAS to identify genes associated with BD using summary data comprising 20 352 BD cases and 31 358 controls of European descent. A total of 9492 unique genes across 13 brain tissues (resulting in 19 632 distinct tests) were used in this study. We set the significance threshold at P < 2.55 × 10–6 (0.05/19 632) after adjustment for multiple testing corrections by Bonferroni correction. ETWAS identified 34 susceptibility genes associated with BD, comprising 44 total associations.	Bipolar Disorder	Genome
2222	33811806	9606	NA	Others	Case report	ES	ES	SIN3B haploinsufficiency leads to a hitherto unknown intellectual disability/autism syndrome. In this study, we report the phenotypic features associated with haploinsufficiency at the SIN3B locus through combined analysis of clinical and cerebral MRI data collected for nine individuals harboring rare SIN3B variants (seven de novo and two of undetermined origin due to an inaccessible parental sample).	Intellectual Disability	Genome
2223	33822213	9606	NA	Others	Case-control based	GWAS//Genomic SEM//PrediXcan	GWAS//Genomic SEM//PrediXcan	We explored the potential of integrating the transcription output of the core gene underlying the commonality of psychiatric disorders with a clustering algorithm to redefine psychiatric disorders. Our results showed that an extended MHC region was associated with the common factor of schizophrenia (SCZ), bipolar disorder (BD), and major depressive disorder (MDD) at the level of genomic significance, with rs7746199 (P = 4.905e-08), a cis-eQTL to the gene ZNF391, pinpointed as a potential causal variant driving the signals in the region.	Bipolar Disorder	Genome
2224	33822213	9606	NA	Others	Case-control based	GWAS//Genomic SEM//PrediXcan	GWAS//Genomic SEM//PrediXcan	We explored the potential of integrating the transcription output of the core gene underlying the commonality of psychiatric disorders with a clustering algorithm to redefine psychiatric disorders. Our results showed that an extended MHC region was associated with the common factor of schizophrenia (SCZ), bipolar disorder (BD), and major depressive disorder (MDD) at the level of genomic significance, with rs7746199 (P = 4.905e-08), a cis-eQTL to the gene ZNF391, pinpointed as a potential causal variant driving the signals in the region.	Major Depressive Disorder	Genome
2225	33837273	9606	Blood	DSM-IV-TR//DSM-V	Family based	Illumina HiSeq//Illumina HumanOmni BeadChip	Illumina HiSeq//Illumina HumanOmni BeadChip	From the 13 families, 71 strong candidate genes were identified, including both known genes for neurodevelopmental disorders and novel genes, such as HTRA3, CDHR1, and ZDHHC17.	Tourette's Disorder	Genome
2226	33837273	9606	Blood	DSM-IV//DSM-IV-TR//DSM-V	Family based	Illumina HiSeq	Illumina HiSeq	Tourette's Disorder (TD) is a neurodevelopmental disorder (NDD) that affects about 0.7% of the population and is one of the most heritable NDDs. Nevertheless, because of its polygenic nature and genetic heterogeneity, the genetic etiology of TD is not well understood. In this study, we combined the segregation information in 13 TD multiplex families with high-throughput sequencing and genotyping to identify genes associated with TD.	Neurodevelopmental Disorders	Genome
2227	33866329	9606	Brain	Others	Case-control based	GWAS	GWAS	We aimed to prioritize genes that were pleiotropically or potentially causally associated with MDD. We applied the summary data-based Mendelian randomization (SMR) method integrating GWAS and gene expression quantitative trait loci (eQTL) data in 13 brain regions to identify genes that were pleiotropically associated with MDD.	Major Depressive Disorder	Genome
2228	33867523	9606	NA	Others	Case report	Illumina//Sanger Sequencing//Specific Luciferase//Substrate Adhesion Assay	Illumina//Sanger Sequencing//Specific Luciferase//Substrate Adhesion Assay	The identification of a nonsense CDSE1 mutation in our patient, whose disease phenotype has been accurately described over two decades, prompted us to perform diverse functional ex vivo studies with the aim of deciphering the CSDE1-dependent biological pathways involved in the pathophysiology of ID-ASD.	Intellectual Disability	Genome
2229	33887383	9606	NA	DSM-IV	Case-control based	TaqMan	TaqMan	The results suggest that GABRD rs13303344 may contribute to the susceptibility to heroin addiction and is associated with the drug cravings of heroin dependent patients.	Heroin Addiction	Genome
2230	33894126	9606	Blood	Others	Case report	WES	WES	Here, we report the identification of missense mutations in DPYSL5 in nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intellectual disability.	Neurodevelopmental Disorders	Genome
2231	33909992	9606	NA	Others	Case report	WES	WES	Here, we report 34 individuals with heterozygous pathogenic variants or a microdeletion of ANKRD17, and presenting with neurodevelopmental features.The major phenotypic characteristic of our cohort is a variable degree of developmental delay/intellectual disability.	Intellectual Disability	Genome
2232	33913039	9606	Brain//Cell lines(iPSC)	Others	Case-control based	Immunohistochemistry	Immunohistochemistry	Last, LRP10 was detected in Lewy bodies (LB) at late maturation stages in brains from idiopathic PD and DLB patients and in LRP10 variant carriers.	Neurocognitive Disorder With Lewy Bodies	Genome
2233	33931730	9606	Blood	DSM-IV	Case-control based	Genotyping	Genotyping	Here we identify the risk missense variant rs1801311 (located in the 1st exon of NDUFA6 gene) as likely causal for schizophrenia at 22q13.2 by disrupting binding of YY1, TAF1, and POLR2A.	Schizophrenia	Genome
2234	33961779	9606	NA	Others	Case-control based	Illumina//ES	Illumina//ES	We identified 15 unrelated affected individuals with de novo missense variants in the ALF domain of AFF3 (probands 1–15).	Intellectual Disability	Genome
2235	33963283	9606	Blood	DSM-IV	Case-control based	Genotyping//MeDIP-seq	Genotyping//MeDIP-seq	Of 334 psyASM genes containing disease-associated DMRs, the most extreme psyASM site rs2602749 (BF = 6,276) in EIPR1 exhibits strong monoallelic methylation favoring the reference allele in unaffected individuals.	Schizophrenia	Genome
2236	34002096	9606	NA	DSM-IV//ICD-9//ICD-10	Case-control based	GWAS//Illumina//Affymetrix	GWAS//Illumina//Affymetrix	Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-wide association study of 41,917 bipolar disorder cases and 371,549 controls of European ancestry, which identified 64 associated genomic loci.	Bipolar Disorder	Genome
2237	34009082	9606	Blood	Others	Case report	WES	WES	We describe a heterozygous in-frame duplication c.436_462dup p.(Pro146_Cys154dup) in the SQSTM1 gene, which affects the zinc-finger domain of p62, in a family with a personality disorder and bvFTD, expanding the genetics and clinical phenotype related to SQSTM1.	Personality Disorder	Genome
2238	34016946	9606	NA	DSM-IV	Case-control based	GWAS//Illumina	GWAS//Illumina	Early-onset bipolar disorder is thought to be a genetically homogeneous subtype with greater symptom severity. We conducted a genome-wide association study (GWAS) for this subtype in bipolar I (BPI) disorder.	Bipolar I Disorder	Genome
2239	34037671	9606	Blood//Brain	ICD-9//ICD-10	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	This 2-sample mendelian randomization study used summary-level genetic associations with diurnal preference and MDD. Up to 340 genetic loci associated with diurnal preference in a meta-analysis of the UK Biobank and 23andMe cohorts were considered as genetic proxies for diurnal preference. The effect size of these variants was scaled using genetic associations with accelerometer-based measurement of sleep midpoint. Genetic associations with MDD were obtained from a meta-analysis of genome-wide association studies data from the Psychiatric Genomics Consortium and UK Biobank. The inverse-variance weighted method was used to estimate the association of genetically proxied morning diurnal preference, corresponding to a 1-hour earlier sleep midpoint, with MDD risk.	Major Depressive Disorder	Genome
2240	34099189	9606	NA	Others	Case-control based	GWAS	GWAS	We conducted the largest to date genome-wide genotype-by-sex (G×S) interaction of risk for these disorders using 85,735 cases (33,403 SCZ, 19,924 BIP, and 32,408 MDD) and 109,946 controls from the PGC (Psychiatric Genomics Consortium) and iPSYCH. We conducted the largest to date genome-wide genotype-by-sex (G×S) interaction of risk for these disorders using 85,735 cases (33,403 SCZ, 19,924 BIP, and 32,408 MDD) and 109,946 controls from the PGC (Psychiatric Genomics Consortium) and iPSYCH.	Major Depressive Disorder	Genome
2241	34099816	9606	Brain(PFC)//Blood	PDQ-4//SCID-II	Case-control based	Sanger Sequencing//qRT-PCR//Western blots	Sanger Sequencing//qRT-PCR//Western blots	Taken together, our study indicates that TARP γ-8 expression level is associated with ASPD, and that the TARP 纬-8 knockout mouse is a valuable animal model for studying this psychiatric disease.	Antisocial Personality Disorder	Genome
2242	34102099	9606	Blood	Others	Family based	WES	WES	We conclude that de novo and bi-allelic variants in AP1G1 are associated with neurodevelopmental disorder in diverse populations.	Neurodevelopmental Disorders	Genome
2243	34109382	9606	NA	Others	Case-control based	Affymetrix Genome-Wide Human SNP Array 6.0//Illumina Infinium HumanExome-12v1 BeadChip//Deep Learning Model	Affymetrix Genome-Wide Human SNP Array 6.0//Illumina Infinium HumanExome-12v1 BeadChip//Deep Learning Model	By incorporating the saliency analysis for the deep learning network, a total of 96 candidate genes were found, of which 14 genes have been reported in previous ADHD-related studies. Furthermore, joint Gene Ontology enrichment and expression Quantitative Trait Loci analysis identified a potential risk gene for ADHD, EPHA5 with a variant of rs4860671.	Attention-Deficit/Hyperactivity Disorder	Genome
2244	34109382	9606	NA	Others	Case-control based	Affymetrix Genome-Wide Human SNP Array 6.0//Illumina Infinium HumanExome-12v1 BeadChip//Deep Learning Model	Affymetrix Genome-Wide Human SNP Array 6.0//Illumina Infinium HumanExome-12v1 BeadChip//Deep Learning Model	Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder. Although genome-wide association studies (GWAS) identify the risk ADHD-associated variants and genes with significant P-values, they may neglect the combined effect of multiple variants with insignificant P-values. Here, we proposed a convolutional neural network (CNN) to classify 1033 individuals diagnosed with ADHD from 950 healthy controls according to their genomic data.	Attention-Deficit/Hyperactivity Disorder	Genome
2245	34112033	9606	Blood	DSM-V	Case-control based	PCR-RFLP//PCR	PCR-RFLP//PCR	Our results indicate the significance of circadian gene variants in BD, which need to be confirmed in different studies with larger samples. Thus, the possible endophenotypes of BD can be enlightened and advanced chronotherapeutics approaches can be manipulated in the future for clinical benefit.	Bipolar Disorder	Genome
2246	34121249	9606	Blood	DSM-IV-TR	Case-control based	PCR-RFLP	PCR-RFLP	DRD4  616 C allele may be associated with increased thalamic GABA+ levels, especially in C-allele carrying PNE children.	Enuresis	Genome
2247	34124712	9606	NA	DSM-IV//SSAGA	Case-control based	Illumina HumanOmni1-Quad v1.0//Illumina Infinium Human Core Exome//Illumina Multi-ethnic Global Array//Illumina Human660W-Quad BeadChip	Illumina HumanOmni1-Quad v1.0//Illumina Infinium Human Core Exome//Illumina Multi-ethnic Global Array//Illumina Human660W-Quad BeadChip	Here we present the results from GWASs of CD and OD related phenotypes measuring the time interval between first use of cocaine or opioids and a DSM-IV dependence diagnosis on the respective drug.	Opioid Use Disorder	Genome
2248	34124712	9606	NA	DSM-IV//SSAGA	Case-control based	Illumina HumanOmni1-Quad v1.0//Illumina Infinium Human Core Exome//Illumina Multi-ethnic Global Array//Illumina Human660W-Quad BeadChip	Illumina HumanOmni1-Quad v1.0//Illumina Infinium Human Core Exome//Illumina Multi-ethnic Global Array//Illumina Human660W-Quad BeadChip	Here we present the results from GWASs of CD and OD related phenotypes measuring the time interval between first use of cocaine or opioids and a DSM-IV dependence diagnosis on the respective drug.	Cocaine Addiction	Genome
2249	34159505	9606	NA	Others	Case-control based	GWAS	GWAS	We integrated and analyzed datasets related to major depressive disorder (MDD), bipolar disorder (BIP), and schizophrenia (SCZ) from the Psychiatric Genomics Consortium using multitrait analysis of genome-wide association analysis (MTAG).	Bipolar Disorder	Genome
2250	34159505	9606	NA	Others	Case-control based	MTAG//GWAS	MTAG//GWAS	We integrated and analyzed datasets related to major depressive disorder (MDD), bipolar disorder (BIP), and schizophrenia (SCZ) from the Psychiatric Genomics Consortium using multitrait analysis of genome-wide association analysis (MTAG). We discovered 7, 32, and 43 novel lead single nucleotide polymorphisms (SNPs) and 1, 6, and 3 novel causal SNPs for MDD, BIP, and SCZ, respectively, after fine-mapping.	Major Depressive Disorder	Genome
2251	34177436	9606	Blood	WISC-IV	Case report	WES//qPCR//Sanger Sequencing	WES//qPCR//Sanger Sequencing	Our results demonstrate that EBF3 mutations can underlie neurodevelopmental disorders without intellectual disability	Neurodevelopmental Disorders	Genome
2252	34177493	9606	NA	DSM-IV//DSM-V	Case-control based	Illumina HumanHap550 Array	Illumina HumanHap550 Array	However, we identified 59 SNPs across seven genomic regions that met the threshold for suggestive significance at P ≤ 1 × 10–5 (Figure 3).	Developmental Coordination Disorder	Genome
2253	34183358	9606	NA	Others	Case report	ES	ES	We identified 12 unrelated individuals with five de novo missense variants in GNB2, four of which are recurrent: p.(Ala73Thr), p.(Gly77Arg), p.(Lys89Glu) and p.(Lys89Thr). All individuals have DD/ID with variable dysmorphism and extraneurologic features. The variants are located at the universally conserved shared interface with the Gα subunit, which modelling suggests weaken this interaction.	Intellectual Disability	Genome
2254	34188182	9606	Blood	DSM-IV-TR	Case-control based	Illumina Infinium PsychArray BeadChip	Illumina Infinium PsychArray BeadChip	Examination of the BrainCloud and GTEx databases revealed that rs10401454 was associated with brain mRNA expression levels of GRIN3B.	Posttraumatic Stress Disorder	Genome
2255	34235737	9606	NA	Others	Case-control based	GWAS	GWAS	Table 1 Colocalization analysis of SNPs of the general factor, ASD and ADHD GWAS (using COLOC and Hyprcoloc)	Attention-Deficit/Hyperactivity Disorder	Genome
2256	34263997	9606	Saliva	SADS-PL//DSM-IV	Case-control based	TaqMan	TaqMan	Brain-derived neurotrophic factor (BDNF) rs6265 single-nucleotide polymorphism has been associated with bipolar disorder (BD), and with brain structure among adults with BD. We set out to investigate the association of the BDNF rs6265 Met allele with neurostructural phenotypes in youth BD. Findings suggest that BDNF rs6265 is differentially associated with regional SA in youth BD. Further investigation is warranted to evaluate whether BDNF protein levels mediate the observed effects, and to evaluate rs6265-related developmental changes.	Bipolar Disorder	Genome
2257	34273149	9606	Blood//Brain	Others	Case-control based	GWAS	GWAS	Using the largest samples to date and novel statistical tools, we aimed to determine the extent to which migraine's polygenic architecture overlaps with bipolar disorder, depression and schizophrenia beyond genetic correlation, and to identify shared genetic loci. Summary statistics from genome-wide association studies were acquired from large-scale consortia for migraine (n cases = 59 674; n controls = 316 078), bipolar disorder (n cases = 20 352; n controls = 31 358), depression (n cases = 170 756; n controls = 328 443) and schizophrenia (n cases = 40 675, n controls = 64 643). We applied the bivariate causal mixture model to estimate the number of disorder-influencing variants shared between migraine and each mental disorder, and the conditional/conjunctional false discovery rate method to identify shared loci. Loci were functionally characterized to provide biological insights.	Schizophrenia	Genome
2258	34273149	9606	Blood//Brain	NA	Case-control based	GWAS	GWAS	Using the largest samples to date and novel statistical tools, we aimed to determine the extent to which migraine's polygenic architecture overlaps with bipolar disorder, depression and schizophrenia beyond genetic correlation, and to identify shared genetic loci. Summary statistics from genome-wide association studies were acquired from large-scale consortia for migraine (n cases = 59 674; n controls = 316 078), bipolar disorder (n cases = 20 352; n controls = 31 358), depression (n cases = 170 756; n controls = 328 443) and schizophrenia (n cases = 40 675, n controls = 64 643). We applied the bivariate causal mixture model to estimate the number of disorder-influencing variants shared between migraine and each mental disorder, and the conditional/conjunctional false discovery rate method to identify shared loci. Loci were functionally characterized to provide biological insights.	Schizophrenia	Genome
2259	34294677	9606	Cell lines(Lineage cells)	Others	Case-control based	GWAS	GWAS	Using Massively Parallel Reporter Assays (MPRAs), we functionally screened over 1000 SNPs prioritized from 39 neuropsychiatric trait/disease GWAS loci, selecting SNPs based on overlap with predicted regulatory features-including expression quantitative trait loci (eQTL) and histone marks-from human brains and cell cultures. We identified >100 SNPs with allelic effects on expression in a retinoid-responsive model system. Functional SNPs were enriched for binding sequences of retinoic acid-receptive transcription factors (TFs), with additional allelic differences unmasked by treatment with all-trans retinoic acid (ATRA).	Major Depressive Disorder	Genome
2260	34301917	9606	Blood	Others	Case-control based	GWAS	GWAS	We investigated polygenic overlap between BIP and CVD phenotypes, including CVD risk factors and coronary artery disease (CAD). We analyzed large genome-wide association studies of BIP (n=51,710) and CVD phenotypes (n=159,208–795,640), using bivariate causal mixture model (MiXeR), which estimates the total amount of shared genetic variants, and conjunctional false discovery rate (FDR), which identifies specific overlapping loci. At conjFDR<0.05, we discovered several loci jointly associated with BIP and CVD phenotypes, including 69 loci shared with BMI as previously reported, and 53 loci with SBP, 53 loci with DBP, 15 with TC, 13 loci with LDL, 10 loci with HDL, 4 loci with T2D and 10 loci with CAD.	Bipolar Disorder	Genome
2261	34321323	9606	NA	Others	Case report	CMA//ES//GS	CMA//ES//GS	We report 18 additional patients from 17 families with genetically confirmed ODLURO. We identified 15 different heterozygous likely pathogenic or pathogenic sequence variants (14 novel) and two partial microdeletions of KMT2E. We confirm and refine the phenotypic spectrum of the KMT2E-related neurodevelopmental disorder, especially concerning cognitive development, with rather mild ID and macrocephaly with subtle facial features in most patients. We observe a high prevalence of ASD in our cohort (41%), while seizures are present in only two patients. We extend the phenotypic spectrum by sleep disturbances.	Neurodevelopmental Disorders	Genome
2262	34384432	9606	Blood	DSM-IV	Case-control based	GWAS	GWAS	All six studies reported results that met our significance threshold of p ≤ 1.0 × 10–7. In total 96 genetic variants were identified.	Cannabis Use Disorder	Genome
2263	34387669	9606	Saliva	DSM-IV	Case-control based	TaqMan	TaqMan	Regions of interest analyses revealed diagnosis-by-SOD2 rs4880 interaction effects for caudal anterior cingulate cortex volume and surface area as well as PFC volume; in each case, there was lower volume/area in the BD GG genotype group vs the healthy controls GG genotype group. There was a significant BD diagnosis × GPX3 rs3793797 interaction effect for PFC surface area, where area was lower in the BD A-allele carrier group vs the other genotype groups. Vertex-wise analyses revealed significant interaction effects in frontal, temporal, and parietal regions related to smaller brain structure in the BD SOD2 rs4880 GG group and BD GPX3 rs3793797 A-allele carrier group.	Bipolar Disorder	Genome
2264	34396949	9606	Blood	DSM-V	Case-control based	MassArray iPlex Gold	MassArray iPlex Gold	MSRA rs11249969 and rs81442 were significantly associated with ED-related and general psychopathology in the AN patients.	Anorexia Nervosa	Genome
2265	34421516	9606	Blood	SCID//DSM-IV	Case-control based	Illumina Global Screening Array-24 v1.0 BeadChip	Illumina Global Screening Array-24 v1.0 BeadChip	The intronic single nucleotide polymorphism (SNP) rs10994336 within the ANK3 has emerged as one of the most replicated risk variants for bipolar disorder (BD) in genome-wide association studies. Our study suggests that BD-related genetic variant rs10994336 in ANK3 impacts executive functions by modulating ANK3 methylation, supporting the theory that methylation acts as a mediator between genotype and phenotype.	Bipolar Disorder	Genome
2266	34435592	9606	Blood	ICD-10	Case-control based	PCR//RFLP	PCR//RFLP	NA	Major Depressive Disorder	Genome
2267	34435592	9606	Blood	ICD-10	Case-control based	PCR//RFLP	PCR//RFLP	CYP3A5 and CYP2C19 are involved in the metabolism of drugs used in the treatment of depression. These cytochromes can also generate reactive oxygen species, which are known to participate in the pathogenesis of depression. The aim of the study was to determine the frequency of CYP3A5*3 and CYP2C19*2 variants among a group of patients with depression to identify any potential association with disease development and progression, and the effectiveness of pharmacotherapy.	Major Depressive Disorder	Genome
2268	34472679	9606	Blood	AUDIT-C//ICD	Case-control based	GWAS	GWAS	Supplemental Table 9:Genes implicated by positional, eQTL, or chromatin interaction mapping of candidate SNPs in loci overlapping between AUD and SCZ (Supplemental Table 5)	Alcohol Use Disorder	Genome
2269	34472679	9606	Blood	Others	Case-control based	GWAS	GWAS	Schizophrenia (SCZ) and bipolar disorder (BD) have a high comorbidity of alcohol use disorder (AUD), and both comorbid AUD and excessive alcohol consumption (AC) have been linked to greater illness severity. We aimed to identify genomic loci jointly associated with SCZ, BD, AUD and AC to gain further insights into their shared genetic architecture.	Alcohol Use Disorder	Genome
2270	34472679	9606	Blood	AUDIT-C//ICD	Case-control based	GWAS	GWAS	Table S10. Genes implicated by positional, eQTL, or chromatin interaction mapping of candidate SNPs in loci overlapping between alcohol use disorder (AUD) and bipolar disorder (BD) (Supplemental Table 6)	Alcohol Use Disorder	Genome
2271	34472679	9606	Blood	Others	Case-control based	GWAS	GWAS	Schizophrenia (SCZ) and bipolar disorder (BD) have a high comorbidity of alcohol use disorder (AUD), and both comorbid AUD and excessive alcohol consumption (AC) have been linked to greater illness severity. We aimed to identify genomic loci jointly associated with SCZ, BD, AUD and AC to gain further insights into their shared genetic architecture. The GWAS data on SCZ and BD were obtained from the Psychiatric Genomics Consortium (PGC). We applied the conjFDR method to increase discovery of genomic loci jointly influencing AC, AUD and the two psychiatric disorders.	Bipolar Disorder	Genome
2272	34472679	9606	Blood	Others	Case-control based	GWAS	GWAS	Schizophrenia (SCZ) and bipolar disorder (BD) have a high comorbidity of alcohol use disorder (AUD), and both comorbid AUD and excessive alcohol consumption (AC) have been linked to greater illness severity. We aimed to identify genomic loci jointly associated with SCZ, BD, AUD and AC to gain further insights into their shared genetic architecture.	Bipolar Disorder	Genome
2273	34472679	9606	Blood	Others	Case-control based	GWAS	GWAS	Schizophrenia (SCZ) and bipolar disorder (BD) have a high comorbidity of alcohol use disorder (AUD), and both comorbid AUD and excessive alcohol consumption (AC) have been linked to greater illness severity. We aimed to identify genomic loci jointly associated with SCZ, BD, AUD and AC to gain further insights into their shared genetic architecture.	Schizophrenia	Genome
2274	34472679	9606	Blood	NA	Case-control based	GWAS	GWAS	Schizophrenia (SCZ) and bipolar disorder (BD) have a high comorbidity of alcohol use disorder (AUD), and both comorbid AUD and excessive alcohol consumption (AC) have been linked to greater illness severity. We aimed to identify genomic loci jointly associated with SCZ, BD, AUD and AC to gain further insights into their shared genetic architecture.	Alcohol Use Disorder	Genome
2275	34472679	9606	Blood	NA	Case-control based	GWAS	GWAS	Schizophrenia (SCZ) and bipolar disorder (BD) have a high comorbidity of alcohol use disorder (AUD), and both comorbid AUD and excessive alcohol consumption (AC) have been linked to greater illness severity. We aimed to identify genomic loci jointly associated with SCZ, BD, AUD and AC to gain further insights into their shared genetic architecture.	Schizophrenia	Genome
2276	34476566	9606	NA	DSM-VR	Case-control based	SNaPshot	SNaPshot	With heroin use disorder, three significant SNP-CpG pairs in	Opioid Use Disorder	Genome
2277	34478125	9606	Blood	Others	Case-control based	RT-PCR	RT-PCR	Nevertheless, the presence of one or two variant alleles for rs1800497 (CT + TT) and rs6265 (GA + AA) was more frequent in patients with BED.	Binge Eating Disorder	Genome
2278	34478125	9606	Blood	Others	Case-control based	RT-PCR	RT-PCR	The presence of wild-type alleles for rs1800497 (CC) and rs6265 (GG) was more frequent in patients without BED. Nevertheless, the presence of one or two variant alleles for rs1800497 (CT + TT) and rs6265 (GA + AA) was more frequent in patients with BED. The combination of the two studied SNPs prevailed in patients with BED.	Eating Disorder	Genome
2279	34494102	9606	NA	Others	Case report	WGS//RNA-seq	WGS//RNA-seq	Here, we present two siblings with biallelic variants in TPR who present with a phenotype of microcephaly, ataxia and severe intellectual disability.	Intellectual Disability	Genome
2280	34505148	9606	NA	Others	Case report	ES//Co-immunoprecipitation//Subcellular Localization Analysis//Western Blotting	ES//Co-immunoprecipitation//Subcellular Localization Analysis//Western Blotting	Recently, others and we identified de novo FBXO11 (F-Box only protein 11) variants as causative for a variable neurodevelopmental disorder (NDD). We now assembled clinical and mutational information on 23 additional individuals. The phenotypic spectrum remains highly variable, with developmental delay and/or intellectual disability as the core feature and behavioral anomalies, hypotonia and various facial dysmorphism as frequent aspects.	Neurodevelopmental Disorders	Genome
2281	34531492	9606	Blood	DSM-IV//AUDIT	Case-control based	Genotyping//Pyrosequencing	Genotyping//Pyrosequencing	The present study demonstrated the involvement of the rs1360780 risk allele in trait resilience in men with AUD, suggesting that the genetic vulnerability of FKBP5 may influence resilience related to AUD.	Alcohol Use Disorder	Genome
2282	34535768	9606	Brain	Others	Case-control based	RNA-seq//ChIP-seq	RNA-seq//ChIP-seq	In summary, this series of experiments suggested that the TCF7L2 transcript variant “T-3”, which is highly expressed in the human brain but not in the other tissues that we tested, might be linked to the BD-BMI risk SNP rs12772424 through GR signaling—a possibility supported by the fact that the rs12772424 SNP creates a GRE.	Bipolar Disorder	Genome
2283	34566951	9606	NA	Others	Case-control based	GWAS//TWAS//Meta-analysis	GWAS//TWAS//Meta-analysis	A polygenic overlap analysis was performed to estimate shared genetic variations between the two diseases. Causal relationships between MDD and atopic diseases were investigated using two-sample bidirectional Mendelian randomization analysis. Genomic loci shared between MDD and atopic diseases were identified using cross-trait meta-analysis. Putative functional genes were evaluated by fine-mapping of transcriptome-wide associations.	Major Depressive Disorder	Genome
2284	34581804	9606	NA	Others	Case-control based	RNA-seq	RNA-seq	Here, we identified two functional variants (rs796364 and rs281759) that disrupt CTCF, RAD21 and FOXP2 binding at 2q33.1. We systematically investigated the regulatory mechanisms of these two variants with serial experiments, including reporter gene assays and electrophoretic mobility shift assay. Intriguingly, these two single nucleotide polymorphisms physically interacted with TYW5 and showed the most significant associations with TYW5 expression in human brain.	Schizophrenia	Genome
2285	34581804	9606	NA	Others	Case-control based	GWAS//Illumina OMNI5M//ChIP-Seq	GWAS//Illumina OMNI5M//ChIP-Seq	Here, we identified two functional variants (rs796364 and rs281759) that disrupt CTCF, RAD21 and FOXP2 binding at 2q33.1. We systematically investigated the regulatory mechanisms of these two variants with serial experiments, including reporter gene assays and electrophoretic mobility shift assay. Intriguingly, these two single nucleotide polymorphisms physically interacted with TYW5 and showed the most significant associations with TYW5 expression in human brain.	Schizophrenia	Genome
2286	34582790	9606	Blood	Molecular diagnosis	Family based	Illumina HiSeq2000//Illumina NovaSeq6000//Sanger Sequencing//ddPCR//aCGH	Illumina HiSeq2000//Illumina NovaSeq6000//Sanger Sequencing//ddPCR//aCGH	We applied genome-wide screening technologies, including exome sequencing (ES) and whole-genome sequencing (WGS), to identify the molecular etiology of 234 newly enrolled subjects and 20 previously unsolved Turkish NDD families.	Neurodevelopmental Disorders	Genome
2287	34587489	9606	NA	Others	Case report	ES//qRT-PCR//Immunoblottiing	ES//qRT-PCR//Immunoblottiing	Exome sequencing combined with a one-sided matchmaking strategy resulted in the assembly of a cohort of six unrelated families with 11 affected individuals having bi-allelic variants in ABHD16A and presenting with a complicated form of HSP. No other variants in disease-associated or novel genes were retained as plausible candidates by exome analysis for any of the affected individuals. The phenotypic overlap between the 11 affected individuals is striking because they all present with variable degrees of developmental delay/intellectual disability and progressive spasticity affecting predominantly the lower limbs.	Intellectual Disability	Genome
2288	34604962	9606	Blood//Brain	Others	Case-control based	GWAS	GWAS	We aimed to characterise the genetic overlap between risk phenotypes and SCZ, and BIP by estimating the total number of shared variants using the bivariate causal mixture model and identifying shared genomic loci using the conjunctional false discovery rate method. We identified 192 loci jointly associated with SCZ and risk phenotypes and 206 associated with BIP and risk phenotypes, of which 68 were common to both risk-taking and risky behaviours and 124 were novel to SCZ or BIP.	Bipolar Disorder	Genome
2289	34634379	9606	NA	ICD-10	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	To examine the genetic overlap between MDD and ASRD, we applied genetic correlation analysis to analyze GWAS summary statistics for MDD (16,823 cases and 25,632 controls) and ASRD (12,665 cases and 19,225 controls). We found positive and significant genetic correlations between MDD and ASRD (GNOVA: rho = 0.59, se = 0.01, P = 5.32 × 10-45). Our latent causal variable (LCV) analysis indicated the genetic correlation result from pleiotropic effects (gcp = -0.56, se = 0.31, Pgcp = 0.1). Based on pleiotropic enrichment, we performed a cross-trait meta-analysis of MDD and ASRD GWAS and fine-mapped the identified loci. In total, we identified 5 pleiotropic loci simultaneously associated with MDD and ASRD at P < 5 × 10-8. At the gene level, we further demonstrated that MDD- and ASRD-inferred gene expression overlapped across 48 tissues and highlighted the NUP210L gene as a potential mediator of the genetic correlation.	Anxiety Disorder	Genome
2290	34634379	9606	NA	ICD-10	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	To examine the genetic overlap between MDD and ASRD, we applied genetic correlation analysis to analyze GWAS summary statistics for MDD (16,823 cases and 25,632 controls) and ASRD (12,665 cases and 19,225 controls). We found positive and significant genetic correlations between MDD and ASRD (GNOVA: rho = 0.59, se = 0.01, P = 5.32 × 10-45). Our latent causal variable (LCV) analysis indicated the genetic correlation result from pleiotropic effects (gcp = -0.56, se = 0.31, Pgcp = 0.1). Based on pleiotropic enrichment, we performed a cross-trait meta-analysis of MDD and ASRD GWAS and fine-mapped the identified loci. In total, we identified 5 pleiotropic loci simultaneously associated with MDD and ASRD at P < 5 × 10-8. At the gene level, we further demonstrated that MDD- and ASRD-inferred gene expression overlapped across 48 tissues and highlighted the NUP210L gene as a potential mediator of the genetic correlation.	Major Depressive Disorder	Genome
2291	34641913	9606	Blood	Others	Case report	aCGH//Sanger Sequencing//PCR	aCGH//Sanger Sequencing//PCR	A 7-year-old boy presented with hyperkinetic stereotyped movements that started during early infancy and persisted over childhood. Abnormal movements consisted of rhythmic and repetitive shaking of the four limbs, with evident stereotypic features. Additional clinical features included ID, attention deficit-hyperactivity disorder (ADHD), ASD, and speech impairment, consistent with CASPR2 deficiency disorder. Whole-genome array comparative genomic hybridization detected a maternally inherited 0.402 Mb duplication, which involved intron 1, exon 2, and intron 2 of CNTNAP2 (c.97 +?_209-?dup). The affected region in intron 1 contains a binding site for the transcription factor FOXP2, potentially leading to abnormal CNTNAP2 expression regulation. Sanger sequencing of the coding region of CNTNAP2 also identified a paternally-inherited missense variant c.2752C > T, p.(Leu918Phe).	Attention-Deficit/Hyperactivity Disorder	Genome
2292	34646230	9606	NA	Others	Case report	Agilent 180K Oligo-Array//SureSelect//Illumina MiSeq//Sanger Sequencing	Agilent 180K Oligo-Array//SureSelect//Illumina MiSeq//Sanger Sequencing	Here, we report a clinical case of a patient with a previously undiagnosed syndrome comprising severe global developmental delay, intellectual disability, and behavioral disorders (such as attention-deficit/hyperactivity disorder, autism spectrum disorder and recurrent bouts of aggressive behavior). After genetic testing, a pathogenic variant was detected in the GNB1 gene, which codes for the G-protein subunit β1. The detected variant (c.217G>A, p.A73T) has not been previously reported in any of the 58 published cases of GNB1 encephalopathy.	Attention-Deficit/Hyperactivity Disorder	Genome
2293	34653363	9606	NA	Others	Case-control based	ES//GS//qPCR//Sanger Sequencing//Immunoblotting//CDG Glycosylation Studies	ES//GS//qPCR//Sanger Sequencing//Immunoblotting//CDG Glycosylation Studies	Congenital disorders of glycosylation (CDGs) form a group of rare diseases characterized by hypoglycosylation. We here report the identification of 16 individuals from nine families who have either inherited or de novo heterozygous missense variants in STT3A, leading to an autosomal-dominant CDG.Affected individuals presented with variable skeletal anomalies, short stature, macrocephaly, and dysmorphic features; half had intellectual disability.	Intellectual Disability	Genome
2294	34680877	9606	NA	MINI	Case-control based	Affymetrix GeneChip Human Mapping 500K Array	Affymetrix GeneChip Human Mapping 500K Array	Suicide in Bipolar Disorder (BD) is a relevant clinical concern. Genetics may shape the individual risk for suicide behavior in BD, together with known clinical factors. The lack of consistent replication in BD may be associated with its multigenetic component.  The sample under analysis included 1115 BD individuals. None of the SNPs reached genome-wide significance. However, a trend of association was evidenced for rs2767403, an intron variant of AOPEP gene, in association with phenotype #1 (p = 5.977 × 10-6).	Bipolar Disorder	Genome
2295	34681036	9606	Blood	ICD-10	Case-control based	Genotyping//RT-PCR	Genotyping//RT-PCR	We demonstrated different PIP4K2A polymorphisms to be associated with AUD presumably due to dopamine system modulation resulting from regulation of the lateral habenula.	Alcohol Use Disorder	Genome
2296	34694367	9606	Blood	Others	Case report	Illumina HiSeq//Sanger Sequencing	Illumina HiSeq//Sanger Sequencing	We identified biallelic pathogenic variants in FRA10AC1 in five individuals from three consanguineous families. The two unrelated Patients 1 and 2 with loss-of-function variants showed developmental delay, intellectual disability, and no speech, while three siblings with the c.494_496delAAG (p.Glu165del) variant had borderline to mild intellectual disability. All patients had microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism.	Neurodevelopmental Disorders	Genome
2297	34694367	9606	Blood	Others	Case report	Illumina HiSeq4000//Illumina NextSeq500//Sanger Sequencing	Illumina HiSeq4000//Illumina NextSeq500//Sanger Sequencing	We identified biallelic pathogenic variants in FRA10AC1 in five individuals from three consanguineous families. The two unrelated Patients 1 and 2 with loss-of-function variants showed developmental delay, intellectual disability, and no speech, while three siblings with the c.494_496delAAG (p.Glu165del) variant had borderline to mild intellectual disability. All patients had microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism.	Neurodevelopmental Disorders	Genome
2298	34703799	9606	Blood	DSM-IV-TR//DSM-V	Case-control based	PCR	PCR	The aim of this study was to investigate the possible association of rs534654 variant on TMEM165 (transmembrane protein 165) gene with the risk of BD. Genotyping of the rs534654 was carried out using the tetra primers- amplification refractory mutation system-PCR (4P-ARMS-PCR) method in 203 patients with BD type 1 and their healthy and normal counterpart.	Bipolar I Disorder	Genome
2299	34716974	9606	NA	DSM-V	Case report	NimbleGen 720k Whole-Genome Tiling Array	NimbleGen 720k Whole-Genome Tiling Array	We reported an ASD patient with OCD, ED, ID, and NBEA deletion. Neuropsychological studies support the presence of shared traits among ASD, OCD, and EDs.1 As shown in Table S2, ASD patients with NBEA deletion have been reported.6, 7 This is the first case report of an adult with NBEA deletion. Though previously reported cases did not mention OCD and EDs, these patients had not reached the peak age of onset of these disorders.	Obsessive Compulsive Disorder	Genome
2300	34716974	9606	NA	DSM-V	Case report	NimbleGen 720k Whole-Genome Tiling Array	NimbleGen 720k Whole-Genome Tiling Array	We reported an ASD patient with OCD, ED, ID, and NBEA deletion. Neuropsychological studies support the presence of shared traits among ASD, OCD, and EDs.1 As shown in Table S2, ASD patients with NBEA deletion have been reported.6, 7 This is the first case report of an adult with NBEA deletion. Though previously reported cases did not mention OCD and EDs, these patients had not reached the peak age of onset of these disorders.	Eating Disorder	Genome
2301	34718264	9606	Blood	DSM-IV	Case-control based	PCR//RFLP	PCR//RFLP	The present study investigated the associations between genetic variants of SLC6A2 and bipolar I disorder in a Korean sample, genotyping three SNPs of the SLC6A2 gene: rs28386840 in the 5’-UTR, rs2242446 in the promoter, and rs5569 in exon 9. Additionally, we identified whether these genetic variants were associated with severity of manic and psychotic symptoms in patients with bipolar I disorder.	Bipolar I Disorder	Genome
2302	34728798	9606	Saliva	Others	Case-control based	GWAS	GWAS	We identified two genome-wide significant loci (rs3791033, an intronic variant of KDM4A; rs640561, an intergenic variant near LRRIQ3).	Opioid Use Disorder	Genome
2303	34730715	9606	Blood	DSM-IV	Case-control based	Illumina MiSeq	Illumina MiSeq	New variants, all previously unreported in the literature, were identified in the HDAC4, HDAC10, and HDAC11 genes. When control and OCD patient groups were compared, a statistically significant difference was found in HDAC2 rs13212283, HDAC4 rs1063639, and HDAC10 rs1555048 in terms of genotype distribution (p < 0.05). In addition, in the OCD group, a statistically significant relationship was found between some obsessions/compulsions and HDAC2, HDAC3, and HDAC4 polymorphisms (p < 0.05).	Obsessive Compulsive Disorder	Genome
2304	34732029	9606	Blood	IRLSSG	Case-control based	RT-PCR	RT-PCR	Furthermore, there was a significant difference in the distribution of CLOCK haplotypes (rs1801260-rs2412646) between patients with RLS and non-RLS controls (p=0.013).	Restless Legs Syndrome	Genome
2305	34750527	9606	NA	Others	Case report	GS	GS	Here, we report a novel in-frame homozygous deletion variant [c.730_753del; p.(Ala244_Gly251del)] in SOX4 (sex-determining region Y-related high-mobility group box 4), segregating with moderate to severe ID, hypotonia, and developmental delay in a Pakistani family.	Intellectual Disability	Genome
2306	34761251	9606	NA	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	Here, we attempted to investigate mechanisms underlying relationships between MDD and insomnia in the context of shared genetic variations. Shared genetic variation was evaluated by polygenic analysis. In two-sample bidirectional Mendelian randomization (MR) analysis, causal relationships between MDD and insomnia were investigated; the list of shared genomic loci was identified using cross-trait meta-analysis.	Major Depressive Disorder	Genome
2307	34761259	9606	Blood	DSM-V	Case report	Ion Torrent	Ion Torrent	Autism spectrum disorder (ASD) and intellectual disability (ID) often exist together in patients. The RAB39B gene has been reported to be mutated in ID patients with additional clinical features ranging from ASD, macrocephaly, seizures and/or early-onset parkinsonism. Here, we describe a novel RAB39B nonstop mutation [Xq28; c.640 T > C; p.(*214Glnext*21)] in a family with ASD, severe ID and poor motor coordination, and we assessed the pathogenicity of the mutation. A heterologous cell system and a Rab39b knockdown (KD) murine model, which mimic the nonstop mutation, were used to validate the deleterious effect of the RAB39B mutation.	Autism Spectrum Disorder	Genome
2308	34782712	9606	NA	CES-D//HAM-D	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	We conducted a meta-analysis of genome-wide interaction of MDD and cognitive function using data from four large European cohorts in a total of 3510 MDD cases and 6057 controls. In addition, we conducted analyses using polygenic risk scores (PRS) based on data from the Psychiatric Genomics Consortium (PGC) on the traits of MDD, Bipolar disorder (BD), Schizophrenia (SCZ), and mood instability (MIN). Functional exploration contained gene expression analyses and Ingenuity Pathway Analysis (IPA). We identified a set of significantly interacting single nucleotide polymorphisms (SNPs) between MDD and the genome-wide association study (GWAS) of cognitive domains of executive function, processing speed, and global cognition. Several of these SNPs are located in genes expressed in brain, with important roles such as neuronal development (REST), oligodendrocyte maturation (TNFRSF21), and myelination (ARFGEF1). IPA identified a set of core genes from our dataset that mapped to a wide range of canonical pathways and biological functions (MPO, FOXO1, PDE3A, TSLP, NLRP9, ADAMTS5, ROBO1, REST).	Major Depressive Disorder	Genome
2309	34788807	9606	NA	Others	Case report	Illumina NovoSeq6000	Illumina NovoSeq6000	Rahman syndrome (RMNS) is a rare genetic disorder characterized by mild to severe intellectual disability, hypotonia, anxiety, autism spectrum disorder, vision problems, bone abnormalities and dysmorphic facies. RMNS is caused by de novo heterozygous mutations in the histone linker gene H1-4; however, mechanisms underlying impaired neurodevelopment in RMNS are not understood. To expand understanding of mutations and phenotypes associated with mutant H1-4, we identified new variants at both the C- and N-terminus of H1.4.	Neurodevelopmental Disorders	Genome
2310	34819662	9606	NA	Others	Case report	WES	WES	In our study, we report a case of monozygotic twins with severe intellectual disability and motor delay and developmental dysphasia. Both probands and their parents were examined using multi-step molecular diagnostic algorithm including whole-exome sequencing (WES), resulting in the identification of a novel, de novo pathogenic sequence variant in the GNAI1 gene, NM_002069.6:c.815 A>G, p.(Asp272Gly) in probands.	Intellectual Disability	Genome
2311	34834409	9606	Blood	DSM-IV	Family based	Illumina//Sanger Sequencing	Illumina//Sanger Sequencing	We identified three private rare pathogenic mutations in two PCM genes, BSN and PCLO, in three families with schizophrenia and bipolar disorder. Our results increase the genetic and allelic heterogeneity of schizophrenia and bipolar disorder and suggest that BSN and PCLO may be considered risk genes for schizophrenia and bipolar disorder.	Bipolar Disorder	Genome
2312	34857772	9606	NA	Others	Case-control based	WGS//Meta-analysis//PCR//Illumina HiSeqX	WGS//Meta-analysis//PCR//Illumina HiSeqX	We find that a cis-pQTL (rs150158578) associated with decreased serum MSR1 (macrophage scavenger receptor types I and II) is causal for schizophrenia, supported by evidence from colocalisation analysis (CLPP4=0.75) and two-sample MR (BETA=0.2205; SE=0.0522; Wald ratio Padj=1.44 × 102). Variants in the MSR1-encoding gene have been nominally significantly associated in a schizophrenia GWAS, and have been robustly associated with AD and PD.	Schizophrenia	Genome
2313	34859065	9606	NA	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	Comparison of genome-wide genes shared by MDD and CVD suggests 20q12 as a pleiotropic region conferring risk for both MDD and CVD. Cross-trait meta-analyses and fine-mapping of transcriptome-wide association signals identified novel risk genes for MDD and stroke, including RPL31P12, BORSC7, PNPT11, and PGF.	Major Depressive Disorder	Genome
2314	34859529	9606	NA	Others	Case report	ES//GS	ES//GS	In this study, we present 27 additional individuals and delineate the clinical and molecular spectrum of the individuals (n = 38) with QRICH1 variants. The main clinical features were mild to moderate developmental delay/ID (71%), nonspecific facial dysmorphism (92%) and hypotonia (39%). Additional findings included poor weight gain (29%), short stature (29%), autism spectrum disorder (29%), seizures (24%) and scoliosis (18%).	Neurodevelopmental Disorders	Genome
2315	34862305	9606	NA	DSM-V	Case-control based	SEQUENOM MassARRAY	SEQUENOM MassARRAY	In a sample of 118 people with autism spectrum disorder and 122 typically developing controls, we investigated cortical thickness using FreeSurfer software. We then examined the main effects of the WNT2 variants and the interactions of group × SNP and age × SNP for each hemisphere and brain region that was altered in people with autism spectrum disorder.	Autism Spectrum Disorder	Genome
2316	34864042	9606	Blood	DSM-V	Case-control based	SNaPshot	SNaPshot	Among these SNP-CpG pairs, rs3758653-DRD4_04, rs3758653-DRD4_05, rs3758653-DRD4_13 and rs3758653-DRD4_03 were unique in the heroin addiction group.	Heroin Addiction	Genome
2317	34865855	9606	NA	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	Table 1. Genome-wide Significant Loci From PTSD GWASs and MTAGs With Replication in MVPTOT GWAS	Posttraumatic Stress Disorder	Genome
2318	34877407	9606	NA	Others	Case report	Illumina Nextseq500//Sanger Sequencing//Transient Transfection//Western Blotting//qRT-PCR	Illumina Nextseq500//Sanger Sequencing//Transient Transfection//Western Blotting//qRT-PCR	We identified 2 novel variations c.2233C>G and c.3392_3393delAG in the KDM5C gene harboring from 2 Chinese families with X-linked intellectual disability (ID).	Intellectual Disability	Genome
2319	34888668	9606	Cell lines(iPSC)	Others	Case-control based	ATAC-seq	ATAC-seq	A series of genome-wide association studies (GWAS) consistently identify strong association signals for restless legs syndrome (RLS), a common neurological disorder, in introns 7–9 of the myeloid ecotropic viral integration site 1 (MEIS1) locus (1–3). A recent series of GWAS for insomnia, sleep and circadian traits also identify strong association signals in this same region, due to a combination of phenotypic overlap with RLS and, arguably, pleiotropic effects (4–8). The lead single nucleotide polymorphism (SNP) for both RLS and insomnia is rs113851554, and the others signals are largely concordant (see Fig. 1).	Restless Legs Syndrome	Genome
2320	34901866	9606	Brain	Others	Case-control based	REBELseq//PCR//Sanger Sequencing	REBELseq//PCR//Sanger Sequencing	Long interspersed element 1 (L1) retrotransposons are a type of inherited polymorphic variant that may be associated with risk for schizophrenia and bipolar disorder. We performed REBELseq, a genome wide assay for L1 sequences, on DNA from male and female persons with schizophrenia and controls (n = 63 each) to identify inherited L1 insertions and validated priority insertions. L1 insertions of interest were genotyped in DNA from a replication cohort of persons with schizophrenia, bipolar disorder, and controls (n = 2268 each) to examine differences in carrier frequencies. We identified an inherited L1 insertion in ARHGAP24 and a quadallelic SNP (rs74169643) inside an L1 insertion in SNTG2 that are associated with risk for developing schizophrenia and bipolar disorder (all odds ratios ~1.2).	Bipolar Disorder	Genome
2321	34904718	9606	NA	Others	Family based	Sanger Sequencing//Illumina//Proteomic-functional Analysis	Sanger Sequencing//Illumina//Proteomic-functional Analysis	Here, we performed a clinical and genetic study on a large consanguineous family presenting syndromic ID and identified a homozygous variant in PDIA3 segregating with the disease. Our results uncovered a previously unanticipated pathway for the development of ID, where perturbations to specific components of the ER folding machinery have adverse effects to neuronal connectivity and synaptic function.	Intellectual Disability	Genome
2322	34906466	9606	Blood	Others	Case report	Illumina HiSeq2000//Super Resolution Imaging//Immunoblotting	Illumina HiSeq2000//Super Resolution Imaging//Immunoblotting	We uncovered loss-of-function ADD1 variants in 4 unrelated individuals affected by ID and/or structural brain defects. Three additional de novo copy number variations covering the ADD1 locus were associated with ID and brain malformations.	Intellectual Disability	Genome
2323	34907471	9606	NA	Others	Case report	WES//Sanger Sequencing	WES//Sanger Sequencing	Here, we present eight male individuals, including a pair of monozygotic twins, harboring pathogenic or likely pathogenic HNRNPH2 variants. Notably, we present the first individuals harboring nonsense or frameshift variants who, similarly to an individual harboring a de novo p.(Arg29Cys) variant within the first quasi-RNA-recognition motif (qRRM), displayed mild developmental delay, and developed mostly autistic features and/or psychiatric co-morbidities.	Neurodevelopmental Disorders	Genome
2324	34919654	9606	NA	Others	Case-control based	GWAS//Meta-analysis//Electrophysiology	GWAS//Meta-analysis//Electrophysiology	In this study, we analysed an allelic series of 57 missense CACNA1I variants derived from a Swedish schizophrenia case and control cohort of more than 10<U+2005>000 individuals.	Schizophrenia	Genome
2325	34924174	9606	Blood	DSM-V	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	The Australian Genetics of Depression Study is the largest stand-alone depression cohort with both genetic data and in-depth phenotyping and comprises a total of 15,792 participants of European ancestry, 92% of whom met diagnostic criteria for MDD. We leveraged the unique nature of this cohort to conduct a meta-analysis with the largest publicly available depression genome-wide association study to date and subsequently used polygenic scores to investigate genetic heterogeneity across various clinical subtypes of MDD.	Major Depressive Disorder	Genome
2326	34942230	9606	Blood	DSM-IV	Case-control based	Sequenom MassARRAY//Dual Luciferase Reporter Gene Assay//Electrophoretic Mobility Shift Assay	Sequenom MassARRAY//Dual Luciferase Reporter Gene Assay//Electrophoretic Mobility Shift Assay	Both TIE1 and MED8 were identified as ADHD susceptibility genes. Furthermore, we first found the G allele of rs3768046 was significantly associated with an increased risk of ADHD (recessive model: GG vs AA+AG, OR= 1.659, 95% CI= (1.262, 2.181); additive model: GG vs GA vs AA, OR= 1.493, 95% CI= (1.179, 1.890)). Additionally, in vitro functional experiments revealed that rs3768046 might alter TIE1 expression by affecting the binding sites of transcription factors. Moreover, the expression level of TIE1 in the blood samples of patients was significantly higher than that of controls.	Attention-Deficit/Hyperactivity Disorder	Genome
2327	34955171	9606	Saliva	Others	Case-control based	Illumina PsychChip GWAS Array	Illumina PsychChip GWAS Array	PRSs were derived from a genome-wide association study of PTSD symptoms (N = 186,689; Million Veteran Program cohort). We evaluated combined effects of PRS and attachment style in predicting incident PTSD in a 7-year, nationally representative cohort of trauma-exposed, European-American U.S. military veterans without PTSD (N = 1083). We also conducted multivariate gene-by-environment interaction and drug repositioning analyses to identify loci that interact with multiple environmental factors and potential pharmacotherapies that may be repurposed for this disorder. Veterans with higher PTSD PRS were more likely to have an incident-positive screen for PTSD over 7 years. A gene-by-environment interaction was also observed, such that higher PRS only predicted incident PTSD in veterans with an insecure attachment style and not those with a secure attachment style. At an individual locus level, the strongest gene-by-environment interaction was observed for the rs4702 variant of the FURIN gene with cumulative lifetime trauma burden. Drug repositioning revealed that genes implicated in PRS are perturbated by the drug doxylamine.	Posttraumatic Stress Disorder	Genome
2328	34968013	9606	Saliva	Others	Case-control based	NovaSeq	NovaSeq	Exome sequencing has been proposed as the first-tier genetic testing in autism spectrum disorder (ASD). Here, we performed exome sequencing in autistic individuals with average to high intellectual abilities (N = 207) to identify molecular diagnoses and genetic modifiers of intervention outcomes of social skills group training (SSGT) or standard care. We prioritized variants of clinical significance (VCS), variants of uncertain significance (VUS) and generated a pilot scheme to calculate genetic scores of rare and common variants in ASD-related gene pathways.	Autism Spectrum Disorder	Genome
2329	34976021	9606	NA	DSM-IV	Case-control based	Meta-analysis	Meta-analysis	We have herein performed a genome-wide meta-analysis in two GWAS datasets of SZ and BD respectively (24,600 cases and 40,012 controls in total, discovery sample). We have performed a cross-diagnosis GWAS meta-analysis of SZ and BD given their putative shared genetic basis. We have identified a novel genome-wide risk locus associated with SZ and BD in East Asians, adding further support for the putative common genetic risk of the two illnesses.	Bipolar Disorder	Genome
2330	34978167	9606	Blood	DSM-IV	Case-control based	PCR//Genotyping//Gene Editing	PCR//Genotyping//Gene Editing	Here a functional regulatory variant (rs2535629) is identified that disrupts CTCF binding at 3p21.1. It is confirmed that rs2535629 is also significantly associated with schizophrenia in Chinese population and the regulatory effect of rs2535629 is validated. Expression quantitative trait loci analysis indicates that rs2535629 is associated with the expression of three distal genes (GLT8D1, SFMBT1, and NEK4) in the human brain, and CRISPR-Cas9-mediated genome editing confirmed the regulatory effect of rs2535629 on GLT8D1, SFMBT1, and NEK4. Interestingly, differential expression analysis of GLT8D1, SFMBT1, and NEK4 suggested that rs2535629 may confer schizophrenia risk by regulating SFMBT1 expression.	Bipolar Disorder	Genome
2331	34979191	9606	NA	Others	Case-control based	Meta-analysis	Meta-analysis	We included some previous studies based on Chinese subjects to explore the relationship between TPH2 polymorphisms and depression via conducting an extensive meta-analysis. We reviewed 40 research papers that included data on TPH2 gene single nucleotide polymorphisms (SNPs) from 5766 patients with depression and 5988 healthy subjects. The analysis showed an association between polymorphisms in the TPH2 gene and depression, and some results were significant in 24 studies that included Chinese Han study participants.	Major Depressive Disorder	Genome
2332	34979191	9606	NA	Others	Case-control based	Meta-analysis	Meta-analysis	The results of our meta-analysis showed that rs4570625, rs17110747, rs120074175, rs4290270, rs120074175, and rs4290270 may be significantly associated with depression, and that rs11178997 (A/A genotype) may be a significant risk factor for depression in the Chinese subjects.	Major Depressive Disorder	Genome
2333	34985809	9606	Saliva	Others	Case-control based	GWAS//Illumina Global Screening Array 2.0	GWAS//Illumina Global Screening Array 2.0	We conducted a genome-wide association study using PND cases (Edinburgh Postnatal Depression Scale score ≥ 13) from the Australian Genetics of Depression Study 2018 data (n = 3804) and screened controls (n = 6134). Results of gene-set enrichment analysis were compared with those of women with non-PND.	Major Depressive Disorder	Genome
2334	34997191	9606	NA	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	Over all 16 subtype-specific GWAS, we identified 47 genome-wide significant loci (45 non-overlapping) associated with nine subtypes. Less than half (22 loci) were significant in our largest GWAS of broad MD. Comparing with the latest published MD GWAS [19], we found 14 loci that have not been reported on MD, with 3 for early-onset, 3 for recurrent, 3 for suicidal MD, 2 for non-suicidal, 1 for non-atypical-like features, 1 for moderate impairment and 1 for PPD (Table 2; full results on the 45 loci in Supplementary Table S7). The majority (64%) of these 14 loci showed no statistically significant association with the other subtype in comparison (P > 0.05; Supplementary Table S7), suggesting subtype-specific effects. The chromosome 2 locus for recurrent MD, with the leading SNP rs6431690, was significant even after the stringent Bonferroni correction (P < 3.125 * 10–9).	Major Depressive Disorder	Genome
2335	35015920	9606	NA	Others	Case report	WES//qPCR	WES//qPCR	Biallelic variants in EEF1B2 have recently been shown to cause a novel form of non-syndromic intellectual disability (ID) in two unrelated families. More patients are needed to delineate the genotypic and phenotypic spectrum of this gene. In this study, two patients in a family harboring pathogenic compound heterozygous variants in EEF1B2 were identified. They were characterized by non-syndromic ID and fever-sensitive seizures in childhood.	Intellectual Disability	Genome
2336	35017578	9606	NA	CAM	Case-control based	Sanger Sequencing-based SNP genotyping	Sanger Sequencing-based SNP genotyping	In a population of postoperative older adults, Delirium status was associated with three SNPs: KIBRA SNP rs17070145, MTNR1B SNP rs10830963, and FKBP5 SNP rs1360780.	Delirium	Genome
2337	35018717	9606	NA	Others	Case report	Illumina HiSeq	Illumina HiSeq	In this study, we identified a novel p.Thr395Met heterozygous variant in the NFIA gene in a patient with intellectual disability, coarctation of the aorta, and distinctive facial features.	Intellectual Disability	Genome
2338	35019165	9606	Blood	Others	Case report	Illumina SureSelect Human All Exon V6//Illumina HiSeq4000//Sanger Sequencing	Illumina SureSelect Human All Exon V6//Illumina HiSeq4000//Sanger Sequencing	In this study, we identified a novel p.Thr395Met heterozygous variant in the NFIA gene in a patient with intellectual disability, coarctation of the aorta, and distinctive facial features.	Intellectual Disability	Genome
2339	35020433	9606	Blood//Cell lines(lymphoblast)	DSM-IV	Family based	WGS//Sanger Sequencing//Wstern Blotting	WGS//Sanger Sequencing//Wstern Blotting	We performed, to our knowledge, the first whole-genome sequencing on 53 parent-offspring families with offspring affected with OCD to investigate all rare de novo variants and insertions/deletions.	Obsessive Compulsive Disorder	Genome
2340	35022430	9606	Blood	DSM-V	Case-control based	Affymetrix Human Genome-Wide SNP Array 6.0//Affymetrix CytoScan HD Array	Affymetrix Human Genome-Wide SNP Array 6.0//Affymetrix CytoScan HD Array	Copy number variants (CNVs) are recognized as a crucial genetic cause of neurodevelopmental disorders (NDDs). Chromosomal microarray analysis (CMA), the first-tier diagnostic test for individuals with NDDs, has been utilized to detect CNVs in clinical practice, but most reports are still from populations of European ancestry. To contribute more worldwide clinical genomics data, we investigated the genetic etiology of 410 Han Chinese patients with NDDs (151 with autism and 259 with unexplained intellectual disability (ID) and developmental delay (DD)) using CMA (Affymetrix) after G-banding karyotyping.	Autism Spectrum Disorder	Genome
2341	35023758	9606	NA	Others	Case-control based	GWAS//TWAS//Meta-analysis	GWAS//TWAS//Meta-analysis	Linkage disequilibrium score regression was used to test the genetic correlation between MDD and OA. Polygenic analysis was performed to estimate shared genetic variations between the two diseases. Two-sample bidirectional Mendelian randomization analysis was used to investigate causal relationships between MDD and OA. Genomic loci shared between MDD and OA were identified using cross-trait meta-analysis.	Major Depressive Disorder	Genome
2342	35045343	9606	Blood	Others	Case report	ES//Sanger Sequencing	ES//Sanger Sequencing	In this study, we report the clinical, biochemical, and molecular features of six individuals, including two fetuses, with bi-allelic pathogenic variants in MAN2C1; the individuals are from four different families. These individuals exhibit dysmorphic facial features, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis.	Neurodevelopmental Disorders	Genome
2343	35046850	9606	Blood	DSM-IV//BIS	Case-control based	MassARRAY	MassARRAY	Hierarchical multiple regression yielded a significant interaction between ZNF804A rs1344706 and alcohol use (β = 0.20, p = 0.0237).	Alcohol Use Disorder	Genome
2344	35051358	9606	NA	Others	Case report	ES//GS//Gene Editing//Immunoblotting//Epigenomics Analysis	ES//GS//Gene Editing//Immunoblotting//Epigenomics Analysis	Here, we report a series of 11 de novo germline heterozygous missense BAP1 variants associated with a rare syndromic NDD.	Neurodevelopmental Disorders	Genome
2345	35057575	9606	Blood//Buccal epithelial cells	Others	Case-control based	GWAS//Illumina Infinium PsychArray Beadchip	GWAS//Illumina Infinium PsychArray Beadchip	In the genotype-phenotype associations, no genome-wide associations were found; nevertheless, 44 single-nucleotide polymorphisms (SNP) were associated at a nominal level (p-value < 5 × 10 5) (Table 2).	Eating Disorder	Genome
2346	35058635	9606	NA	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	We developed the multivariate multiple QTL approach and performed a large-scale, multi-ancestry eQTL meta-analysis to increase power and fine-mapping resolution. Analysis of 3,983 RNA-sequenced samples from 2,119 donors, including 474 non-European individuals, yielded an effective sample size of 3,154. Joint statistical fine-mapping of eQTL and GWAS identified 329 variant-trait pairs for 24 brain-related traits driven by 204 unique candidate causal variants for 189 unique genes. This integrative analysis identifies candidate causal variants and elucidates potential regulatory mechanisms for genes underlying schizophrenia, bipolar disorder and Alzheimer's disease.	Bipolar Disorder	Genome
2347	35058635	9606	NA	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	We developed the multivariate multiple QTL approach and performed a large-scale, multi-ancestry eQTL meta-analysis to increase power and fine-mapping resolution. Analysis of 3,983 RNA-sequenced samples from 2,119 donors, including 474 non-European individuals, yielded an effective sample size of 3,154. Joint statistical fine-mapping of eQTL and GWAS identified 329 variant-trait pairs for 24 brain-related traits driven by 204 unique candidate causal variants for 189 unique genes. This integrative analysis identifies candidate causal variants and elucidates potential regulatory mechanisms for genes underlying schizophrenia, bipolar disorder and Alzheimer's disease.	Schizophrenia	Genome
2348	35060114	9606	NA	Others	Case report	WES//Sanger Sequencing	WES//Sanger Sequencing	Here, we describe the clinical and genetic features of 18 individuals with de novo AGO1 variants: four new and 14 previously reported. Three variants are identified: two in-frame deletion variants and one missense variant. The spectrum of AGO1-related disorders included global development delay (GDD), intellectual disability (ID) with or without epilepsy, autism spectrum disorder, hypotonia and dysmorphisms.	Neurodevelopmental Disorders	Genome
2349	35063188	9606	Blood	DSM-IV	Case-control based	Illumina Infinium HumanExome BeadChip	Illumina Infinium HumanExome BeadChip	In the general population, an increased burden of low-frequency, functional SNVs in the 22q11.2 region is associated with schizophrenia risk and a decrease in EA. These findings suggest that in addition to structural variation, a cumulative regional burden of low-frequency, functional SNVs in the 22q11.2 region can also have a relevant phenotypic impact.	Schizophrenia	Genome
2350	35079123	9606	NA	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	We conducted a genome-wide association study (GWAS) of total cerebellar volume and underlying cerebellar lobe volumes in 33,265 UK-Biobank participants. Total cerebellar volume was heritable (h2SNP = 50.6%), showing moderate genetic homogeneity across lobes (h2SNP from 35.4% to 57.1%; mean genetic correlation between lobes rg ≈ 0.44). We identified 33 GWAS signals associated with total cerebellar volume, of which 6 are known to alter protein-coding gene structure, while a further five mapped to genomic regions known to alter cerebellar tissue gene expression.	Schizophrenia	Genome
2351	35087184	9606	Blood	ICD-10	Case report	WES//Sanger Sequencing	WES//Sanger Sequencing	Here we report five patients from three unrelated families with intellectual disability (ID) and a novel pathogenic SMG9 c.551 T > C p.(Val184Ala) homozygous missense variant, identified using exome sequencing. Sanger sequencing confirmed recessive segregation in each family. SMG9 c.551T > C p.(Val184Ala) is most likely an autozygous variant identical by descent. Characteristic clinical findings in patients were mild to moderate ID, intention tremor, pyramidal signs, dyspraxia, and ocular manifestations.	Intellectual Disability	Genome
2352	35091539	9606	Brain	Others	Case-control based	Illumina//ddPCR	Illumina//ddPCR	In previous work, we identified a loss-of-function splice site variant (rs41283526*G) located in an alternatively spliced exon of a minor isoform of ANK3, that had a protective effect against BD and schizophrenia (SCZ).	Bipolar Disorder	Genome
2353	35094024	9606	NA	ICD-9-CM	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	In conclusion, we conducted a GWAS of AUD in 13,551 East Asian subjects, in which we confirmed the two previously known risk loci and applied the AUD PRS in an independent cohort.	Alcohol Use Disorder	Genome
2354	35094443	9606	NA	Others	Case report	Illumina NovaSeq6000//Sanger Sequencing	Illumina NovaSeq6000//Sanger Sequencing	We describe 16 individuals from 12 families who carry deletions involving PAX5 and surrounding genes, de novo frameshift variants that are likely to trigger nonsense-mediated mRNA decay, a rare stop-gain variant, or missense variants that affect conserved amino acid residues. Four of these individuals were published previously but without detailed clinical descriptions. All these individuals have been diagnosed with one or more neurodevelopmental phenotypes including delayed developmental milestones (DD), intellectual disability (ID), and/or ASD. Seizures were documented in four individuals. No recurrent patterns of brain magnetic resonance imaging (MRI) findings, structural birth defects, or dysmorphic features were observed. Our findings suggest that PAX5 haploinsufficiency causes a neurodevelopmental disorder whose cardinal features include DD, variable ID, and/or ASD.	Neurodevelopmental Disorders	Genome
2355	35099645	9606	NA	Others	Case report	Illumina NovaSeq6000//Sanger Sequencing	Illumina NovaSeq6000//Sanger Sequencing	We report an 8-year-old Iranian girl with intellectual disability, hypotonia, impaired vision such as vitreomacular adhesion, motor delay, and speech delay. A novel, de novo nonsense mutation (c.1014G > A; p.Trp338Ter) in exon 7 of the CTNNB1 (NM_001904) gene was detected and confirmed by whole-exome sequencing and Sanger sequencing, respectively. This study helps to expand the growing list of loss-of-function mutations known in the CTNNB1 gene.	Intellectual Disability	Genome
2356	35107634	9606	NA	Others	Case report	ES//Sanger Sequencing//Transfection Rescue Assay//Immunofluorescence	ES//Sanger Sequencing//Transfection Rescue Assay//Immunofluorescence	We present two siblings with global developmental delay, brain anomalies, hypotonia, and contractures. Exome sequencing revealed a homozygous variant, NM_001035005.4:c.90dupC (p.Phe31Leufs*3) in C18orf32, a gene not previously associated with any disease in humans.	Neurodevelopmental Disorders	Genome
2357	35152403	9606	Blood	Others	Case report	Illumina HiSeq4000//Sanger Sequencing//Electrophysiological Recording	Illumina HiSeq4000//Sanger Sequencing//Electrophysiological Recording	Here, we report a de novo missense variant in GABRA4 (c.899C>T, p.Thr300Ile) in an individual with early-onset drug-resistant epilepsy and neurodevelopmental abnormalities.	Neurodevelopmental Disorders	Genome
2358	35156297	9606	Blood	Others	Case report	WES//Sanger Sequencing//qPCR//Plasmids & Mutagenesis//Co-IP//Western Blotting//Electrophysiological Analysis	WES//Sanger Sequencing//qPCR//Plasmids & Mutagenesis//Co-IP//Western Blotting//Electrophysiological Analysis	We report identification and functional characterization of two new de novo loss-of-function KCNMA1 variants p.(A172T) and p.(A314T) with characteristics of Liang-Wang syndrome. Variant p.(A172T) is associated with developmental delay, cognitive impairment and ataxia. Mechanistically, p.(A172T) abolishes BK potassium current, inhibits Mg2+ -dependent gating, but shifts conductance-voltage (G-V) curves to more positive potentials when complexed with WT channels. Variant p.(A314T) is associated with developmental delay, intellectual disability, cognitive impairment, mild ataxia and generalized epilepsy; suppresses BK current amplitude; and shifts G-V curves to more positive potentials when expressed with WT channels. In addition, two new patients with previously reported gain-of-function variants p.(N536H) and p.(N995S) are found to show epilepsy and paroxysmal dyskinesia as reported previously, but also exhibit additional symptoms of cognitive impairment and dysmorphic features. Furthermore, variants p.(A314T) and p.(N536H) reduced total and membrane levels of BK proteins.	Neurodevelopmental Disorders	Genome
2359	35163737	9606	NA	Others	Case report	Illumina Infinium Methylation EPIC Bead Chip//Illumina Infinium HumanMethylation450 BeadChip	Illumina Infinium Methylation EPIC Bead Chip//Illumina Infinium HumanMethylation450 BeadChip	The molecular description at diagnosis and demographics of a cohort of 60 patients with clinical diagnosis for WDSTS is shown in Table 1. Fifty-six patients carried KMT2A intragenic variants (missense, nonsense, indel or splice site changes, including variants of uncertain significance (VUS)) and four patients had only a clinical diagnosis of WDSTS or Kabuki syndrome.	Intellectual Disability	Genome
2360	35165976	9606	NA	Others	Case report	ES//qRT-PCR//ChIP//Immunofluorescence Staining	ES//qRT-PCR//ChIP//Immunofluorescence Staining	Here, we describe three novel and one previously reported CIC variants in four individuals with neurodevelopmental delay. Notably, we report for the first time a de novo frameshift variant specific to the long isoform of CIC (CIC-L, NM_001304815.1:c.1100dup, p.Pro368AlafsTer16) in an individual with speech delay, intellectual disability, and autism spectrum disorder. Our investigation into the function of CIC-L reveals that partial loss of CIC-L leads to transcriptional derepression of CIC target genes. We also describe a missense variant (NM_015125.3:c.683G>A, p.Arg228Gln) in an individual with a history of speech delay and relapsed pre-B acute lymphoblastic leukemia. Functional studies of this variant suggest a partial loss of CIC transcriptional repressor activity.	Neurodevelopmental Disorders	Genome
2361	35169262	9606	Blood	Others	Case-control based	Illumina HumanHap550 Array	Illumina HumanHap550 Array	Here we report that common and rare genetic variants in CADPS are more frequently observed in individuals with early-onset BD than in control populations. We explored the consequences of missense variants identified in patients on the multiple functions of the protein and showed that most of these variants affect CADPS functions and neurotransmission.	Bipolar Disorder	Genome
2362	35176404	9606	Blood	DSM-V	Case-control based	SNaPshot	SNaPshot	In the present study, thirty-three SNPs across nine nAChR genes were selected and probed for their associations with heroin addiction phenotypes in 801 unrelated northwestern Chinese Han patients. We found that rs2565055 in CHRNA2 gene was associated with daily dose of methadone treatment, and rs2672215, rs2672216 and rs2741865 in CHRNA10 gene were associated with the duration of the transition from first use to dependence (DTFUD).	Heroin Addiction	Genome
2363	35181481	9606	NA	ICD-10	Family based	Illumina NovaSeq6000//Sanger Sequencing	Illumina NovaSeq6000//Sanger Sequencing	In this study, using whole-exome sequencing, we identified a novel nonsense mutation c.1324C > T in the Interleukin 1 receptor accessory protein (IL1RAP) gene in four affected individuals with schizophrenia of a Chinese family. IL1RAP was found involved in initiating the immune responses and regulating synaptic formation.	Schizophrenia	Genome
2364	35181757	9606	NA	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	UK Biobank (UKB) is a key contributor in mental health genome-wide association studies (GWAS) but only ~31% of participants completed the Mental Health Questionnaire ("MHQ responders"). We predicted generalized anxiety disorder (GAD), posttraumatic stress disorder (PTSD), and major depression symptoms using elastic net regression in the ~69% of UKB participants lacking MHQ data ("MHQ non-responders"; NTraining = 50%; NTest = 50%), maximizing the informative sample for these traits.	Posttraumatic Stress Disorder	Genome
2365	35181757	9606	NA	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	UK Biobank (UKB) is a key contributor in mental health genome-wide association studies (GWAS) but only ~31% of participants completed the Mental Health Questionnaire ("MHQ responders"). We predicted generalized anxiety disorder (GAD), posttraumatic stress disorder (PTSD), and major depression symptoms using elastic net regression in the ~69% of UKB participants lacking MHQ data ("MHQ non-responders"; NTraining = 50%; NTest = 50%), maximizing the informative sample for these traits.	Anxiety Disorder	Genome
2366	35181757	9606	NA	NA	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	UK Biobank (UKB) is a key contributor in mental health genome-wide association studies (GWAS) but only ~31% of participants completed the Mental Health Questionnaire (\MHQ responders\"). We predicted generalized anxiety disorder (GAD), posttraumatic stress disorder (PTSD), and major depression symptoms using elastic net regression in the ~69% of UKB participants lacking MHQ data (\"MHQ non-responders\"; NTraining = 50%; NTest = 50%), maximizing the informative sample for these traits."	Posttraumatic Stress Disorder	Genome
2367	35181757	9606	NA	NA	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	UK Biobank (UKB) is a key contributor in mental health genome-wide association studies (GWAS) but only ~31% of participants completed the Mental Health Questionnaire (\MHQ responders\"). We predicted generalized anxiety disorder (GAD), posttraumatic stress disorder (PTSD), and major depression symptoms using elastic net regression in the ~69% of UKB participants lacking MHQ data (\"MHQ non-responders\"; NTraining = 50%; NTest = 50%), maximizing the informative sample for these traits."	Anxiety Disorder	Genome
2368	35182808	9606	NA	Others	Case report	WGS//Transfection	WGS//Transfection	Here, we report the first homozygous protein-altering mutation in SIM2 in a 7-year-old boy presenting with multiple craniofacial and eye anomalies, developmental delay and intellectual impairment. Further, by comparing clinical features across case series harboring structural rearrangements in the DSCR region, we identify significant phenotypic overlap with our patient, suggesting that these clinical hallmarks in other patients may be influenced by the disruption of SIM2 gene dosage within the large DSCR region.	Neurodevelopmental Disorders	Genome
2369	35190550	9606	Cell lines(Leukocytes)	DSM-V	Case-control based	Illumina HiSeq X	Illumina HiSeq X	We performed whole genome sequencing (WGS) in an ASD cohort of 68 individuals from 22 families enriched for recent shared ancestry. We identified an average of 3.07 million variants per genome, of which an average of 112,512 were rare. We mapped runs of homozygosity (ROHs) in affected individuals and found an average genomic homozygosity of 9.65%, consistent with expectations for multiple generations of consanguineous unions. We identified potentially pathogenic rare exonic or splice site variants in 12 known (including KMT2C, SCN1A, SPTBN1, SYNE1, ZNF292) and 12 candidate (including CHD5, GRB10, PPP1R13B) ASD genes.	Autism Spectrum Disorder	Genome
2370	35190816	9606	Blood//Brain	Others	Case report	Meta-analysis	Meta-analysis	We analysed the disease-causing variants identified in the 534 individuals included in our study (Fig. 1 and Supplementary Table 1), including 255 individuals with missense variants (108 unique, 25 recurrent variants), 119 individuals with protein-truncating variants (PTV, 79 unique, 12 recurrent variants), 79 individuals with splice site variants (58 unique, 14 recurrent variants), 33 individuals with whole or partial gene deletions, 30 individuals with frameshift variants (24 unique, two recurrent variants), five individuals with duplications, nine individuals with in-frame deletions (six unique, two recurrent variants) and one individual with a synonymous de novo variant (Supplementary Table 2).	Neurodevelopmental Disorders	Genome
2371	35191423	9606	Blood	Others	Case-control based	MassARRAY	MassARRAY	Polymorphism of rs12966547 on the long noncoding RNA LOC10537215 are a shared genetic variant of schizophrenia and bipolar disorder in Han Chinese women.	Bipolar Disorder	Genome
2372	35202563	9606	NA	Others	Case report	WES	WES	Here, we present a cohort of 29 subjects with de novo missense variants in six H4 genes (H4C3, H4C4, H4C5, H4C6, H4C9, and H4C11) identified by whole-exome sequencing and matchmaking. All individuals present with neurodevelopmental features of intellectual disability and motor and/or gross developmental delay, while non-neurological features are more variable. Ten amino acids are affected, six recurrently, and are all located within the H4 core or C-terminal tail. These variants cluster to specific regions of the core H4 globular domain, where protein-protein interactions occur with either other histone subunits or histone chaperones.	Neurodevelopmental Disorders	Genome
2373	35215271	9606	Buccal cell	DSM-V	Case-control based	Illumina Human Exome BeadChip Kit	Illumina Human Exome BeadChip Kit	This study integrated transcriptome and exome genotyping for identifying functional variants associated with autism spectrum disorder and their impact on gene expression to find significant variations. More than 1800 patients were screened, and 70 (47 male/23 female) with an average age of 7.56 ± 3.68 years fulfilled the DSM-5 criteria for autism.	Autism Spectrum Disorder	Genome
2374	35217314	9606	Cell lines(Lymphocytes)	DSM-IV	Case-control based	Infinium PsychArray-24 BeadChip	Infinium PsychArray-24 BeadChip	This is the first study to support evidence of association between polymorphisms in the SERPINA6/SERPINA1 gene region and ADHD. Nine variants with potential regulatory function located primarily in the SERPINA6 gene were suggestively associated with ADHD. We observed an interaction pattern emerging from rs2144833 and rs10129500, potentially indicating a cumulative effect of variants and suggesting an important role for the SERPINA6 gene in explaining the relationship between ADHD and HPA dysregulation.	Attention-Deficit/Hyperactivity Disorder	Genome
2375	35220405	9606	Blood//Saliva	DSM-V	Case-control based	Ion PGM//PCR	Ion PGM//PCR	Using our filter, we discovered one nonsense SNV (p.C1451* in CACNA1D), one de novo SNV (p.A36V in CACNA1C), one rare short deletion (p.E1675del in CACNA1D), and 14 NSstrict SNVs (non-synonymous SNV predicted as damaging by all of five in silico analyses). Neither p.A36V in CACNA1C nor p.C1451* in CACNA1D were found in 1871 SCZ cases, 380 ASD cases, or 1916 healthy controls in the independent sample set, suggesting that these SNVs might be ultra-rare SNVs in the Japanese population. The neuronal splicing isoform of Cav1.2 with the p.A36V mutation, discovered in the present study, showed reduced Ca2+-dependent inhibition, resulting in excessive Ca2+ entry through the mutant channel. These results suggested that this de novo SNV in CACNA1C might predispose to SCZ by affecting Ca2+ homeostasis. Thus, our analysis successfully identified several ultra-rare and potentially disruptive gene variants, lending partial support to the hypothesis that VGCC-encoding genes may contribute to the risk of SCZ/ASD.	Autism Spectrum Disorder	Genome
2376	35220405	9606	Blood//Saliva	DSM-V	Case-control based	Ion PGM//PCR	Ion PGM//PCR	Using our filter, we discovered one nonsense SNV (p.C1451* in CACNA1D), one de novo SNV (p.A36V in CACNA1C), one rare short deletion (p.E1675del in CACNA1D), and 14 NSstrict SNVs (non-synonymous SNV predicted as damaging by all of five in silico analyses). Neither p.A36V in CACNA1C nor p.C1451* in CACNA1D were found in 1871 SCZ cases, 380 ASD cases, or 1916 healthy controls in the independent sample set, suggesting that these SNVs might be ultra-rare SNVs in the Japanese population. The neuronal splicing isoform of Cav1.2 with the p.A36V mutation, discovered in the present study, showed reduced Ca2+-dependent inhibition, resulting in excessive Ca2+ entry through the mutant channel. These results suggested that this de novo SNV in CACNA1C might predispose to SCZ by affecting Ca2+ homeostasis. Thus, our analysis successfully identified several ultra-rare and potentially disruptive gene variants, lending partial support to the hypothesis that VGCC-encoding genes may contribute to the risk of SCZ/ASD.	Schizophrenia	Genome
2377	35221096	9606	Brain	Others	Case-control based	GWAS	GWAS	We found that 20% of the loci and 50% of the genes significantly associated with schizophrenia were also associated with brain morphology. The conditional false discovery rate analysis identified 428 loci, including 267 novel loci, significantly associated with brain-linked schizophrenia risk, with functional annotation indicating high relevance for brain tissue. The pleiotropy-enriched polygenic score explained more variance in liability than conventional polygenic scores across several scenarios.	Schizophrenia	Genome
2378	35221096	9606	Brain	NA	Case-control based	GWAS	GWAS	We found that 20% of the loci and 50% of the genes significantly associated with schizophrenia were also associated with brain morphology. The conditional false discovery rate analysis identified 428 loci, including 267 novel loci, significantly associated with brain-linked schizophrenia risk, with functional annotation indicating high relevance for brain tissue. The pleiotropy-enriched polygenic score explained more variance in liability than conventional polygenic scores across several scenarios.	Schizophrenia	Genome
2379	35221147	9606	NA	Others	Case-control based	Affymetrix Affy 6.0//Meta-analysis	Affymetrix Affy 6.0//Meta-analysis	Five studies (including the current independent studies) contributed to the meta-analysis of CACNA1C^rs4765905. A total of 25,838 schizophrenia cases and 31,727 healthy controls were included in the present study.	Schizophrenia	Genome
2380	35222528	9606	Blood	Others	Case report	Illumina Nova	Illumina Nova	This study reports a Chinese patient with a novel heterozygous CHD2 mutation (c.4318C>T, pArg1440*). Her main clinical manifestations include developmental delay, myoclonic epilepsy, and hypothyroidism.	Neurodevelopmental Disorders	Genome
2381	35224839	9606	NA	Others	Case report	Illumina	Illumina	We identified the novel heterozygous de novo variant p.(Leu137Phe) in PTDSS1 in a child with mild-to-moderate developmental delay. Skeletal survey revealed no evidence of LMHD in this patient. Functional assessment of the p.Leu137Phe variant was performed by overexpressing the mutant protein into HEK293 cells. Following C14 -serine labeling and TLC analysis of lipids, we observed that the p.(Leu137Phe) variant displayed no catalytic activity compared to the wild-type enzyme. We conclude that p.(Leu137Phe) variant has decreased enzymatic activity and that is likely to be the etiology of the patient's symptoms given the gene's constraint in the population. This is the first report of the clinical phenotype seen in an individual with a heterozygous loss-of-function variant in PTDSS1.	Autism Spectrum Disorder	Genome
2382	35225435	9606	NA	Others	Case report	ES//Sanger Sequencing	ES//Sanger Sequencing	We identified a novel variant c.2029G>C (p. Gly677Arg) in UBE3A as the most promising candidate. In silico analyses showed that p.Gly677Arg in the UBE3A affects a highly conserved residue. Her mother had the variant at this locus. Sanger sequencing results showed that II-2, II-5, II-7, IV-1, III-5, III-7, III-8, and III-9 have the variant c.2029G>C, and all patients inherited maternally variant in UBE3A, while the offsprings of the male carrier were unaffected.	Intellectual Disability	Genome
2383	35235886	9606	NA	Others	Case-control based	GWAS//Genomic SEM	GWAS//Genomic SEM	We estimated that SCZ_SMO explained 8.6% of Schizophrenia heritability (Z score <-2.5 in CAUSE, p<10-20 in Genomic SEM). There were 20 independent loci showing association with SCZ_SMO at the genome-wide threshold of p<5 × 10-8. At the top locus on chromosome 11, fine-mapping identified rs7945073 (posterior inclusion probability =0.12, p = 2.24 × 10-32) as the top risk variants. Gene-level association and fine-mapping highlighted NCAM1, PHC2, and SEMA6D as risk genes of SCZ_SMO. Other risk genes were enriched in cortex, neuron, and dendritic spines (adjusted p<0.05). SCZ_SMO showed significant positive correlation (p<10-6) with the genetic risk of attention deficit hyperactivity disorder (r = 0.50), lifestyle problems (r = 0.83), social deprivation (r = 0.58) and all-cause pregnant loss (r = 0.60).	Schizophrenia	Genome
2384	35245678	9606	NA	Others	Case-control based	Illumina NovaSeq6000	Illumina NovaSeq6000	CSMD3 belongs to a group of putative complement control proteins. However, its role in the central nervous system and synaptogenesis remains largely unknown. Here we report that CSMD3 deleterious mutations occur frequently in patients with neurodevelopmental disorders (NDDs).	Neurodevelopmental Disorders	Genome
2385	35250027	9606	NA	DSM-IV	Case-control based	GWAS//Illumina 610K	GWAS//Illumina 610K	We examined whether common variants from the extended major histocompatibility complex (xMHC) region contribute to the response to antipsychotic drugs (APDs) in patients with schizophrenia with persistent psychosis. Subjects participated in a prospective longitudinal study of the effect of APDs on psychopathology were temporally split into discovery (n = 88) and replication (n = 42) cohorts. The primary endpoint was a change in Brief Psychiatric Rating Scale at 6-week or 6-month after treatment. rs204991 (β = 3.917, p = 3.72 × 10-6), the strongest signal associated with response at 6-week was located near C4A/C4B after a linear regression adjusted for covariates. xMHC SNP imputation disclosed much stronger signals (rs9268469, β = 5.140, p = 1.57 × 10-7) and other weaker signals (p < 1 × 10-5) spanning the entire xMHC region. All the variants were previously identified schizophrenia risk loci. Conditional fine-mapping revealed three subgroups of SNPs which were the eQTLs (p < 1 × 10-7) for C4A, HLA-C, and BTN3A2 in disease-relevant tissue. Epistasis between HLA-C and C4A was observed (p = 0.019). Minor allele (G) carriers of rs204991, eQTL for C4A, having decreased risk for schizophrenia and lower imputed expression of C4A, had a better response to APDs.	Schizophrenia	Genome
2386	35254515	9606	iPSC	DSM-IV	Case-control based	Gene Editing(CRISPR-CAS9)//PCR	Gene Editing(CRISPR-CAS9)//PCR	Here, we showed that iPSC-derived hippocampal NPCs from schizophrenia patients with the A/A allele at SNP rs16864067 exhibited abnormal NPC polarity, resulting from the downregulation of SOX11 by this high-risk allele.	Schizophrenia	Genome
2387	35257831	9606	Blood	DSM-IV	Case-control based	TaqMan	TaqMan	The study included 228 male adolescent subjects (120 with and 108 without CD). CD was diagnosed according to Structured Clinical Interview for DSM-IV criteria, while evaluations of aggressive/dissociative behaviors were performed using psychometric questionnaires including the PCL-YV, OAS-M, KADS, and CBCL. Platelet 5-HT concentration was determined by spectrophotofluorometry. Genotyping of 5-HT2A receptor polymorphisms rs2070040, rs9534511, rs4142900, rs9534512 was performed using TaqMan SNP Genotyping Assays. Subjective irritability, physical aggression toward others, and antisocial behavior were strongly associated with the G allele of rs2070040 and rs4142900, and the C allele of rs9534511 and rs9534512. A significantly increased platelet 5-HT concentration in CD subjects, compared to controls, was lost after the correction according to the smoking status.	Conduct Disorder	Genome
2388	35258801	9606	Blood	DSM-V	Case-control based	SNaPshot	SNaPshot	In the present study, we first analyzed the association between TH gene variants and susceptibility and traits of heroin addiction in 801 patients with heroin addiction and 930 healthy controls. Methylation levels in the promoter region of the TH gene were detected and compared between the heroin addiction and healthy control groups. To reveal the potential mechanism of the association of TH gene variants and heroin addiction, correlations between the risk TH single nucleotide polymorphism (SNPs) for heroin addiction and the methylation and expression levels of the TH gene were examined. Our results demonstrated that SNP rs6356 was associated with susceptibility to heroin addiction.	Heroin Addiction	Genome
2389	35278208	9606	Blood	DSM-IV	Case-control based	HumanOmniExpress BeadChip	HumanOmniExpress BeadChip	Treatment-resistant schizophrenia (TRS) occurs in one-third of the patients, but the molecular determinants of poor antipsychotic response remain unclear. We compared genetic data of patients with TRS (n = 63) with non-TRS (n = 111) by polygenic risk scores (PRS) calculated by PRSice software using PGC2_SCZ (Psychiatric Genomics Consortium - Schizophrenia) data. We genotyped 174 SCZ individuals to identify risk variants associated with poor treatment response. The demographic features of the cohort and their symptom scale scores after the follow-up period are shown in Table 1. The top-ranked SNPs based on association p-values are also shown in Tables S1 and S2. Most of these SNPs conferred at least a threefold increased risk for the trait. Some of them were located at intergenic regions while others were found within the LIN54, THAP9, AUTS2, and CRPPA genes.	Schizophrenia	Genome
2390	35278764	9606	NA	Others	Case report	WES	WES	Here, we report a subject with two de novo mutations, a frameshift KDM5B variant and a 2q deletion of 8.2 Mb, associated with facial and finger dysmorphisms, severe intellectual and motor disorders, and a rare epileptic syndrome identified as epilepsy of infancy with migrating focal seizures (EIMFS)	Neurodevelopmental Disorders	Genome
2391	35279744	9606	NA	DSM-IV//DSM-V	Case-control based	Iliimina Infinium PsychArray-24 BeadChip	Iliimina Infinium PsychArray-24 BeadChip	While several functional studies are underway to understand the consequences of FOXP2 variation, this study aims to expand previous findings to clinically and genetically related phenotypes and neuroanatomical features among subjects with ADHD. The sample included 407 adults with ADHD and 463 controls. Genotyping was performed on the Infinium PsychArray-24 BeadChip, and the FOXP2 gene region was extracted. A gene-wide approach was adopted to evaluate the combined effects of FOXP2 variants (n = 311) on ADHD status, severity, comorbidities, and personality traits. Independent risk variants presenting potential functional effects were further tested for association with cortical surface areas in a subsample of cases (n = 87). The gene-wide analyses within the ADHD sample showed a significant association of the FOXP2 gene with harm avoidance (P = 0.001; PFDR = 0.015) and nominal associations with hyperactivity symptoms (P = 0.026; PFDR = 0.130) and antisocial personality disorder (P = 0.026; PFDR = 0.130). An insertion/deletion variant (rs79622555) located downstream of FOXP2 was associated with the three outcomes and nominally with the surface area of superior parietal and anterior cingulate cortices.	Attention-Deficit/Hyperactivity Disorder	Genome
2392	35328024	9606	Blood	DSM-IV	Case report	Illumina HiSeq	Illumina HiSeq	In this study, we investigate a patient with complex ASD involving epilepsy and strabismus. Whole genome sequencing of the proband-parent trio uncovered a novel de novo POLR2A variant (c.1367T&gt;C, p. Val456Ala) in the proband.	Autism Spectrum Disorder	Genome
2393	35328036	9606	Saliva	DSM-IV-TR	Case-control based	TaqMan	TaqMan	In conclusion, BD diagnosis did not influence the effect on impulsivity scores for any of the three SNPs considered. Only one SNP-the BDNF rs6265 Met/Met homozygosis-was independently associated with lower impulsivity scores. The 5-HTTLPR SS genotype was associated with higher impulsivity scores in females only. Further studies adopting genome-wide screening in larger samples are needed to define the genetic basis of impulsivity in BD.	Bipolar Disorder	Genome
2394	35331928	9606	Blood	DSM-IV//DSM-V	Case report	smMIPs//Sanger Sequencing	smMIPs//Sanger Sequencing	By targeted sequencing of a large Chinese ASD cohort, analyzing published genome-wide sequencing data, and mining literature, we curated 39 KMT5B variants identified from NDD individuals.	Neurodevelopmental Disorders	Genome
2395	35340043	9606	NA	Others	Case report	Meta-analysis//Genotyping	Meta-analysis//Genotyping	A phenotypic assessment of 41 individuals was combined with a literature meta-analysis for a total of 83 individuals diagnosed with EBF3-related NDD. A phenotypic assessment of 41 individuals was combined with a literature meta-analysis for a total of 83 individuals diagnosed with EBF3-related NDD.	Neurodevelopmental Disorders	Genome
2396	35342985	9606	NA	Others	Case report	Illumina HiSeq 2000	Illumina HiSeq 2000	All three patients had a short stature, delayed motor milestone acquisition, intellectual disability and cerebellar abnormalities associated with a severe demyelinating neuropathy, with distinct morphological features. Despite the proliferation of giant mitochondria, the mitochondrial respiratory chain complex activity in skeletal muscle was normal, except in one patient in whom there was a mild decrease in complex I enzyme activity. All three patients carried the same two compound heterozygous variants of the TRMT5 (tRNA Methyltransferase 5) gene, one known pathogenic frameshift mutation [c.312_315del (p.Ile105Serfs*4)] and a second rare missense change [c.665 T > C (p.Ile222Thr)]. TRMT5 is a nuclear-encoded protein involved in the post-transcriptional maturation of mitochondrial tRNA. Computer modelling of the human TRMT5 protein structure suggests that the rare p.Ile222Thr mutation could affect the stability of tRNA binding.	Neurodevelopmental Disorders	Genome
2397	35350973	9606	NA	ICHD-III	Case-control based	GWAS//Affymetrix CHB1//Sequenom MassARRAY iPLEX	GWAS//Affymetrix CHB1//Sequenom MassARRAY iPLEX	We conducted a two-stage genome-wide association study (GWAS) to identify susceptible genes for restless legs syndrome in 1,647 patients with migraine, including 264 with and 1,383 without restless legs syndrome, and also validated the association of lead variants in normal controls unaffected with restless legs syndrome (n = 1,053). We identified two novel susceptibility loci rs6021854 (in VSTM2L) and rs79823654 (in CCDC141) to be associated with restless legs syndrome in migraineurs, which remained significant when compared to normal controls.	Restless Legs Syndrome	Genome
2398	35360849	9606	Blood	Others	Case report	Illumina NextSeq500	Illumina NextSeq500	Here, we reported a 10-year-old girl with severe intellectual disability, rigidity, ataxia or dyspraxia, and cerebellar atrophy on brain MRI; two BRAT1 variants in the trans configuration [c.1014A > C (p.Pro338 = ); c.706delC (p.Leu236Cysfs*5)] were detected using whole-exome sequencing.	Intellectual Disability	Genome
2399	35365808	9606	Blood	DSM-IV	Family based	Illumina HiSeq2500	Illumina HiSeq2500	Whole-exome sequencing (WES) revealed that a novel heterozygous missense variant, ARID4A c.1231 C > G (p.His411Asp), was associated with schizophrenia (SCZ) in this study. We determined the crystal structure of the PWWP-ARID tandem at 2.05, revealing an unexpected mode in which ARID4A assembles with its PWWP and ARID from a structural and functional supramodule.	Schizophrenia	Genome
2400	35367090	9606	Blood	DSM-V	Case-control based	PCR//Genotyping//Sanger Sequencing	PCR//Genotyping//Sanger Sequencing	COMT rs4633 was related to MATRICS global assessment, while in the multi-phenotype analysis, PRODH rs2870984 was associated with processing speed, working memory, verbal learning, and social cognition. In addition, the association of variants in COMT and PRODH with the risk for SCZ was also found in Mexican-Mestizo patients.	Schizophrenia	Genome
2401	35368680	9606	Cell lines(Leucocytes)	DSM-V	Case-control based	MassARRAY//PCR	MassARRAY//PCR	The BDNF gene rs11030101/rs2030324/rs6265 AAC haplotype was potentially associated with an increased risk of schizophrenia. In addition, genotypes at the rs11030101 and rs6265 loci may affect the negative symptoms and general symptoms of schizophrenic patients, respectively.	Schizophrenia	Genome
2402	35368691	9606	Blood	Others	Case report	aCGH//Illumina NovaSeq6000	aCGH//Illumina NovaSeq6000	We studied by whole exome sequencing (WES), with particular regard of 850 SFARI genes, three families with an affected member carrier of inherited 16p13.11 and 16p13.11p12.3 microdeletion and one family with an affected member with a de novo 16p13.11 microdeletion. By combining a deductive approach together with personalized network models, we identified gene signatures potentially capable of explaining the clinical phenotype. Candidate variants in genes of interest were identified as possibly involved in determining the neurological phenotype of the four patients, such as compound heterozygosity in CECR2, variants in MTOR and RICTOR genes, compound heterozygous single nucleotide variants in the LRRK2 gene. Moreover, genes present in the microdeletion region were partially present as central nodes, with a focus on NDE1. No additional pathogenetic or uncertain CNVs were found in all four patients. No significant variants were detected in genes included in the microdeletion in patients 1, 2 and 3, excluding the finding of unmasked recessive variants.	Schizophrenia	Genome
2403	35369087	9606	Blood	DSM-V	Case-control based	TaqMan	TaqMan	In this study, we have analyzed the association between selected common polymorphisms in the DRD2 and DRD4 genes in a large cohort of Italian patients affected by AN (n = 332), BN (n = 122), and BED (n = 132) compared to healthy controls (CTRs) (n = 172). Allelic and genotypic frequencies have been also correlated with the main psychopathological and clinical comorbidities often observed in patients. Our results showed significant associations of the DRD2-rs6277 single nucleotide polymorphism (SNP) with AN and BN, of the DRD4-rs936461 SNP with BN and BED and of DRD4 120-bp tandem repeat (TR) polymorphism (SS plus LS genotypes) with BED susceptibility.	Eating Disorder	Genome
2404	35370858	9606	Blood	ICD-10	Family based	Illumina Hiseq	Illumina Hiseq	In the present study, we recruited a three-generation Chinese pedigree in which 5 of 17 members had long-term depression. We conducted whole-exome sequencing to identify the genetic mutation profiles of the family, and a list of susceptible genetic variations that were highly associated with depression onset was revealed via multiple omics analysis. In particular, a non-synonymous single nucleotide variation in the oxoglutarate dehydrogenase-like (OGDHL) gene, rs2293239 (p.Asn725Ser), was identified as one of the major driving genetic forces for depression onset in the family. This variant causes an important conformational change in the transketolase domain of OGDHL, thus reducing its binding affinity with the cofactor thiamine pyrophosphate and eventually resulting in the abnormal accumulation of glutamate in the brain. Brain imaging analysis further linked the rs2293239 variant with an enlarged amygdala and cerebellum in depressive family members.	Major Depressive Disorder	Genome
2405	35373813	9606	NA	Others	Case report	WES	WES	We refine the phenotype and report 19 additional individuals harboring compound heterozygous or homozygous inactivating ADAM22 variants, of whom 18 had clinical data available. Additionally, we provide follow-up data from two previously reported cases. All affected individuals exhibited infantile-onset, treatment-resistant epilepsy. Additional clinical features included moderate to profound global developmental delay/intellectual disability (20/20), hypotonia (12/20), delayed motor development (19/20). Brain MRI findings included cerebral atrophy (13/20), supported by post-mortem histological examination in patient-derived brain tissue, cerebellar vermis atrophy (5/20), and callosal hypoplasia (4/20).	Neurodevelopmental Disorders	Genome
2406	35379867	9606	Cell lines(Lymphocytes)	DSM-III-R	Case-control based	ABI PRIM 7900	ABI PRIM 7900	We performed case-control studies for ten SNPs in a total sample of 1584 subjects. All these ten SNPs were on or near mature microRNAs. We identified the association between bipolar disorder and the T/C polymorphism at rs895819. To illustrate the function of miR-27a, we constructed several miR-27a knockout (KO) cell lines, determined candidates of miR-27a, and then verified NCAM1 as a target gene of miR-27a. Further studies revealed that the T/C polymorphism on miR-27a led to the differential expression of mature and precursor miR-27a without affecting the expression of primary miR-27a. Furthermore, the C mutation on pre-miR-27a suppresses cell migration and dopamine expression levels. Our study highlights the importance of miR-27a and its polymorphism at rs895819 in bipolar disorder.	Bipolar Disorder	Genome
2407	35386198	9606	Blood	Others	Case report	WES//qPCR	WES//qPCR	Eight patients with CHD2 gene mutations were analysed. Six mutations were identified; four were unreported previously (c.670C>T; c.4012A>C; c.2416dup; c.1727-1728insAT), and two were known mutations: c.5035C>T (two cases) and c.4173dup (two cases). Among these mutations, seven were de novo mutations, and one could not be determined because the parents refused genetic testing. The clinical manifestations included mild or severe intellectual disability, epilepsy, and behavioural abnormalities.	Neurodevelopmental Disorders	Genome
2408	35391588	9606	Blood	Others	Case report	Illumina NovaSeq6000	Illumina NovaSeq6000	Here, we describe a 2-year- and 5-month-old male patient who presented with global developmental delay (GDD). Trio whole exome sequencing (WES) revealed a 5 bp duplicate in the AP1S2 gene (NM_003916.5: exon 2: c.96_100dup, p. Leu34Glnfs*8) predicted to cause early termination of translation, which was inherited from the unaffected mother. The clinical features of our patient were consistent with previous reports. This is the second case in the Chinese family and the eleventh variant found in AP1S2-related XLID. Our findings expand the AP1S2 variant spectrum in neurodevelopmental disorders and provide evidence for the application of WES in PGS diagnosis.	Intellectual Disability	Genome
2409	35393353	9606	NA	Others	Case report	ES	ES	The exome sequencing of three patients with neurological disorders revealed the presence of biallelic variants within Gemin5, absent in the normal population.	Neurodevelopmental Disorders	Genome
2410	35393395	9606	NA	Others	Case-control based	Illumina Infinium Global Screening Array	Illumina Infinium Global Screening Array	To our knowledge, this is the first study using a comprehensive, genome-wide approach to examine the genomic underpinnings of symptom severity among individuals with SSD treated with clozapine (N = 804 before and N = 684 after QC). Using a novel approach of integrating genome-wide, PRS, and CYP analyses, we demonstrate that higher schizophrenia-PRS and higher genotype-predicted CYP2C19 enzyme activity are independently associated with lower symptom severity while on clozapine. Although no significant genome-wide hit was discovered, the loci on NFIB (rs1923778, p = 3.78x10 7) and PTPRD (rs4742565, p = 1.64x10 6) are of interest given previous literature.	Schizophrenia	Genome
2411	35393556	9606	NA	Others	Case-control based	Immunofluorescence	Immunofluorescence	Taken together, our data point to Gα13 selective signaling impairments as representing a disease-relevant pathogenicity pathway that can be inherited through Lphn3 gene polymorphisms. This study highlights the intricate interplay between Lphn3 GPCR functions and the actin cytoskeleton in modulating neurodevelopmental cues related to ADHD etiology.	Attention-Deficit/Hyperactivity Disorder	Genome
2412	35396580	9606	Brain	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common variant associations at 287 distinct genomic loci. Associations were concentrated in genes that are expressed in excitatory and inhibitory neurons of the central nervous system, but not in other tissues or cell types. Using fine-mapping and functional genomic data, we identify 120 genes (106 protein-coding) that are likely to underpin associations at some of these loci, including 16 genes with credible causal non-synonymous or untranslated region variation.	Schizophrenia	Genome
2413	35396580	9606	Brain	NA	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common variant associations at 287 distinct genomic loci. Associations were concentrated in genes that are expressed in excitatory and inhibitory neurons of the central nervous system, but not in other tissues or cell types. Using fine-mapping and functional genomic data, we identify 120 genes (106 protein-coding) that are likely to underpin associations at some of these loci, including 16 genes with credible causal non-synonymous or untranslated region variation.	Schizophrenia	Genome
2414	35398349	9606	Blood	Others	Case report	Illumina Singleton ES//Sanger Sequencing	Illumina Singleton ES//Sanger Sequencing	Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB; MIM# 619121) is a recently described metabolic disorder with characteristic features of mild dysmorphism, intellectual disability, spasticity, peripheral neuropathy, cardiomyopathy, and thin corpus callosum. Biallelic variants in SHMT2 (MIM 138450), encoding mitochondrial serine hydroxymethyltransferase enzyme, have been recently linked to this disorder. Till now, a total of seven variants including six missense and one deletion-insertion has been reported in SHMT2. We hereby report an additional individual with novel homozygous missense variant c.1133A > G in SHMT2 (NM_005412.6) identified by exome sequencing and review the phenotype and genotype of the previously reported individuals with NEDCASB.	Neurodevelopmental Disorders	Genome
2415	35400548	9606	Blood	Others	Case report	ES//Sanger Sequencing	ES//Sanger Sequencing	A 22-year-old man presents with episodic ataxia, paroxysmal kinesigenic dyskinesia, seizure, intellectual disability and autism spectrum disorder. He also has obesity, hypertension, hyperuricemia, and mild liver dysfunction. Exome sequencing revealed a c.649dup variant in PRRT2 in one allele and a de novo 16p11.2 microdeletion in another allele.	Autism Spectrum Disorder	Genome
2416	35405010	9606	NA	Others	Case report	Illumina HiSeq2000//Illumina HiSeqX	Illumina HiSeq2000//Illumina HiSeqX	Here we describe two individuals with profound intellectual disability, epilepsy, white matter atrophy, microcephaly, and dysmorphic features, who carry damaging de novo heterozygous variants in DROSHA.	Intellectual Disability	Genome
2417	35405010	9606	NA	Others	Case report	TaqMan	TaqMan	Here we describe two individuals with profound intellectual disability, epilepsy, white matter atrophy, microcephaly, and dysmorphic features, who carry damaging de novo heterozygous variants in DROSHA.	Intellectual Disability	Genome
2418	35410376	9606	NA	Others	Case-control based	Illumina HiSeq X	Illumina HiSeq X	We report results from the Bipolar Exome (BipEx) collaboration analysis of whole-exome sequencing of 13,933 patients with bipolar disorder (BD) matched with 14,422 controls. We find an excess of ultra-rare protein-truncating variants (PTVs) in patients with BD among genes under strong evolutionary constraint in both major BD subtypes. We find enrichment of ultra-rare PTVs within genes implicated from a recent schizophrenia exome meta-analysis (SCHEMA; 24,248 cases and 97,322 controls) and among binding targets of CHD8. Genes implicated from genome-wide association studies (GWASs) of BD, however, are not significantly enriched for ultra-rare PTVs. Combining gene-level results with SCHEMA, AKAP11 emerges as a definitive risk gene (odds ratio (OR) = 7.06, P = 2.83 × 10-9).	Schizophrenia	Genome
2419	35422839	9606	Blood	Others	Case report	MGI-2000//Sanger Sequencing	MGI-2000//Sanger Sequencing	Au-Kline syndrome is a severe multisystemic syndrome characterized by several congenital defects, including intellectual disability. Loss-of-function and missense variants in the HNRNPK gene are associated with a range of dysmorphic features. This report describes an eleven-year-old Chinese boy with intellectual disability and developmental delays. Family-based whole-exome and Sanger sequencing identified a de novo missense variant in HNRNPK (NM_002140.3: c.143T > A, p. Leu48Val).	Intellectual Disability	Genome
2420	35430327	9606	NA	Others	Case report	Illumina HiSeq2000//Sabger sequencing	Illumina HiSeq2000//Sabger sequencing	Herein, we describe novel pathogenic compound heterozygous variants in OTUD6B identified via whole-exome sequencing in an index case exhibited the severe IDDFSDA phenotype.	Intellectual Disability	Genome
2421	35433545	9606	Blood	Others	Case report	Illumina 2500//Illumina NovaSeq6000	Illumina 2500//Illumina NovaSeq6000	We describe three unrelated patients with global developmental delay (GDD) or ID, macrocephaly and additional features. Using whole exome sequencing, each of the probands was found to harbor a distinct de novo heterozygous disease-causing variant in KMT5B: c.541C > G (p.His181Asp); c.833A > T (p.Asn278Ile); or c.391_394delAAAG (p.Lys131GlufsTer6). We discuss herein their clinical presentations, and compare them to those of previously reported patients.	Neurodevelopmental Disorders	Genome
2422	35433561	9606	Blood	Others	Case report	WES//Sanger Sequencing	WES//Sanger Sequencing	In the present study, we enrolled a fetus with brain malformation and lung lobulation defects from China. Whole-exome sequencing (WES) was performed to detect the candidate genes and Sanger sequencing was performed for mutational analysis. After data filtering and bioinformatics prediction, a novel non-sense mutation of NFIB (NM_001190737:c.870C > A;p.Tyr290*) was identified in the fetus.	Neurodevelopmental Disorders	Genome
2423	35436926	9606	Blood	Others	Case report	Illumina HiSeq2500	Illumina HiSeq2500	Exome sequencing revealed a homozygous missense mutation in the POLR3B gene in a consanguineous family with three Intellectual disability with craniofacial anomalies patients. POLR3B gene encoding the second largest subunit of RNA polymerase III.	Intellectual Disability	Genome
2424	35438303	9606	Blood	DSM-V	Case-control based	SNaPshot	SNaPshot	To examine the potential mechanisms of 5-HT receptor genes in opioid use disorder, we first determined the associations between several single-nucleotide polymorphism (SNPs) in three representative 5-HT receptor genes (HTR1B, HTR2A, and HTR3B) and susceptibility to heroin use disorder in 1731 participants. Our results demonstrated that rs6296 in the HTR1B gene was correlated with susceptibility to heroin use disorder.	Drug Abuse	Genome
2425	35445959	9606	Blood	DSM-V	Case-control based	PCR//Genotyping	PCR//Genotyping	In the present study, we aim to explore the association of MAP3K4 and schizophrenia in an independent case-control sample including 627 schizophrenic patients and 1175 healthy controls from a Northeast Chinese Han population. Both the allelic and genotypic association analyses showed that 6 SNPs in MAP3K4 were significantly associated with schizophrenia (rs590988, rs625977, rs9295134, rs12110787, rs1001808 and rs9355870).	Schizophrenia	Genome
2426	35453620	9606	NA	Others	Case-control based	Genotyping	Genotyping	We suggest that genetic or epigenetic alterations across dopaminergic reward systems lead to uncontrollable self-administration of opioids and other drugs. For instance, diminished availability via knockout of dopamine D3 receptor (DRD3) increases vulnerability to opioids. Building upon this concept via the use of a sophisticated polymorphic risk analysis in a human cohort of chronic opioid users, we found evidence for a higher frequency of polymorphic DRD3 risk allele (rs6280) than opioid receptor μ1 (rs1799971).	Opioid Use Disorder	Genome
2427	35456494	9606	Blood	DSM-IV	Case report	Illumina NovaSeq6000//Sanger Sequencing	Illumina NovaSeq6000//Sanger Sequencing	By Exome Sequencing, we identified a de novo stop-gain variant, c.334C&gt;T, p.(Gln112*), in an Italian patient with a neurodevelopmental disorder. The patient (9 years old) presented the following facial features: a flat profile, thick eyebrows, long eyelashes, a bulbous nasal tip and a prominent columella, retracted ears, dental anomalies. The patient showed speech delay and mild neuromotor delay but not autism spectrum disorder.	Intellectual Disability	Genome
2428	35460391	9606	Blood	Others	Case report	Illumina HiSeq2000//Sanger Sequencing	Illumina HiSeq2000//Sanger Sequencing	In the present study, we recruited a large consanguineous family segregating a neurodevelopmental disorder in an autosomal recessive form. We performed clinical phenotyping by imaging the patient's brain followed by whole exome sequencing examining DNA from two affected individuals. The clinical phenotypes of the disease were suggestive of brain atrophy. Clinical examination revealed intellectual impairment with hypertonia and brisk reflexes. WES followed by Sanger sequencing revealed a novel homozygous nonsense mutation [EXOC8; NM_175876.5; c.1714G > T; p.(Glu572Ter)] in the DNA of affected individuals. Both parents of the patients were heterozygous for the identified mutation.	Neurodevelopmental Disorders	Genome
2429	35468861	9606	Blood	Others	Case-control based	WGS//WES	WGS//WES	We identified a total of 380 genes achieving statistical significance (5% false discovery rate), including 31 genes affected by de novo CNVs. Of the 380 genes, 52 have not previously been reported as NDD genes, and the data of de novo CNVs contributed to the significance of three genes (GLTSCR1, MARK2, and UBR3). Among the 52 genes, we reasonably excluded 18 genes [a number almost identical to the theoretically expected false positives (i.e., 380 × 0.05 = 19)] given their constraints against deleterious variants and extracted 34 "plausible" candidate genes. Their validity as NDD genes was consistently supported by their similarity in function and gene expression patterns to known NDD genes. Quantifying the overall similarity using deep learning, we identified 11 high-confidence (> 90% true-positive probabilities) candidate genes: HDAC2, SUPT16H, HECTD4, CHD5, XPO1, GSK3B, NLGN2, ADGRB1, CTR9, BRD3, and MARK2.	Neurodevelopmental Disorders	Genome
2430	35468861	9606	Blood	NA	Case-control based	WGS//WES	WGS//WES	We identified a total of 380 genes achieving statistical significance (5% false discovery rate), including 31 genes affected by de novo CNVs. Of the 380 genes, 52 have not previously been reported as NDD genes, and the data of de novo CNVs contributed to the significance of three genes (GLTSCR1, MARK2, and UBR3). Among the 52 genes, we reasonably excluded 18 genes [a number almost identical to the theoretically expected false positives (i.e., 380 × 0.05 = 19)] given their constraints against deleterious variants and extracted 34 \plausible\" candidate genes. Their validity as NDD genes was consistently supported by their similarity in function and gene expression patterns to known NDD genes. Quantifying the overall similarity using deep learning, we identified 11 high-confidence (> 90% true-positive probabilities) candidate genes: HDAC2, SUPT16H, HECTD4, CHD5, XPO1, GSK3B, NLGN2, ADGRB1, CTR9, BRD3, and MARK2."	Neurodevelopmental Disorders	Genome
2431	35469323	9606	NA	Others	Case report	NGS	NGS	In this report we present 16 additional individuals with PHF8-XLID from 11 different families of diverse ancestry. We also present five individuals from four different families who have ID and a variant of unknown significance in PHF8 with no other explanatory variant in another gene. All affected individuals exhibited developmental delay and all but two had borderline to severe ID.	Intellectual Disability	Genome
2432	35470453	9606	NA	Others	Case-control based	GWAS	GWAS	We propose a novel method for bridging this knowledge gap by fine-mapping short structural variants (SSVs) in and around GWAS-identified loci. SSV fine-mapping of loci associated with complex disorders such as schizophrenia, amyotrophic lateral sclerosis, and Alzheimer's disease has uncovered genetic risk markers, phenotypic variability between patients, new pathological mechanisms, and potential therapeutic targets.	Anorexia Nervosa	Genome
2433	35487419	9606	Blood	Others	Case report	WES//Sanger Sequencing	WES//Sanger Sequencing	Here, using whole exome sequencing, we identified a homozygous nonsense HECW2 variant: c.736C > T; p.Arg246* in a proband from a Moroccan consanguineous family, with developmental delay, intellectual disability, hypotonia, generalized tonico-clonic seizures and a persistent tilted head. Thus this study describes the first homozygous HECW2 variant, inherited as an autosomal recessive pattern, contrasting with former reported de novo variants found in HECW2 patients.	Intellectual Disability	Genome
2434	35489115	9606	NA	IRLSSG	Case-control based	Illumina HumanExome BeadChip 12v1_A	Illumina HumanExome BeadChip 12v1_A	Common variants have been assessed extensively in several genome-wide association studies, but the contribution of rarer genetic variation has not been investigated at this scale. We therefore genotyped a case-control set of 9246 individuals for mainly rare and low frequency exonic variants using the Illumina ExomeChip.	Restless Legs Syndrome	Genome
2435	35492695	9606	Blood	DSM-IV	Case-control based	PCR	PCR	We found that the G allele and GG genotype of rs3757 in DGCR8 conferred a higher risk of schizophrenia, which likely resulted from higher expression of DGCR8 according to our test of dual-luciferase reporter system.	Schizophrenia	Genome
2436	35494330	9606	NA	Others	Case-control based	PCR//RFLP	PCR//RFLP	Between schizophrenia group and healthy group, the genotype and allele frequencies for rs1858232A/G differed significantly (χ 2 = 6.256, 4.145; P = 0.044, 0.045), but neither genotype nor allele frequencies of rs4531275C/T differed significantly. The genotype frequencies for rs4657178C/T and rs6704393C/T differed significantly (χ 2 = 19.782, 12.683; P < 0.01, P = 0.002) between schizophrenia group and healthy group. In the gender-specific analysis, we found statistically significant difference in genotype frequencies between patients and controls in both subgroups for rs4657178C/T (χ 2 = 9.356, 9.585; P = 0.009, 0.008). There was also a significant difference in the genotype frequency between patients and controls in male subgroup for rs6704393C/T (χ 2 = 8.800, P = 0.012). In the haplotype analysis, only the TCT haplotype frequency of rs6704393C/T, rs4531275C/T, and rs4657178C/T differed significantly between patients and controls in total population (χ 2 = 5.215, P = 0.022).	Schizophrenia	Genome
2437	35501530	9606	Blood	DSM-IV	Case-control based	TaqMan//qRT-PCR	TaqMan//qRT-PCR	We performed genetic association analyses of the SLC35B2 gene using Japanese cohorts with 366 BD cases and 370 controls and 2012 SCZ cases and 2170 controls. We then investigated expression of SLC35B2 mRNA in postmortem brains by QPCR using a Caucasian cohort with 33 BD and 34 SCZ cases and 34 controls and by in situ hybridization using a Caucasian cohort with 37 SCZ and 29 controls. We found significant associations between three SNPs (rs575034, rs1875324, and rs3832441) and BD, and significantly reduced SLC35B2 mRNA expression in postmortem dorsolateral prefrontal cortex (DLPFC) of BD.	Bipolar Disorder	Genome
2438	35504398	9606	Blood	DSM-IV-TR	Case-control based	Illumina HumanCytoSNP-12v2//WES//WGS	Illumina HumanCytoSNP-12v2//WES//WGS	We identified a three-generation multiplex pedigree with BD and RDD. Strikingly, we identified a significant linkage with mood disorders (logarithm of odds [LOD] = 3.61) at 1p36-35, supported in other ancestry studies. Finally, we determined the entire sequence of the 6.4-Mb haplotype shared by all affected subjects. Moreover, we found a rare triplet of missense variants in the SPOCD1 gene on the haplotype. Notably, despite the rare frequency, one heterozygote with multiple SPOCD1 variants was identified in an independent set of 88 BD type I genotyping samples.	Bipolar Disorder	Genome
2439	35509074	9606	NA	Others	Case-control based	GWAS	GWAS	We identified a significant genetic correlation between FTD and schizophrenia at both genetic and transcriptomic levels. Meanwhile, robust genetic enrichment was observed between FTD and schizophrenia and alcohol use disorder. Seven shared genetic loci were identified, which were mainly involved in interleukin-induced signaling, synaptic vesicle, and brain-derived neurotrophic factor signaling pathways. By integrating cis-expression quantitative trait loci analysis, we identified MAPT and CADM2 as shared risk genes. MR analysis showed mutual causation between FTD and schizophrenia with nominal association.	Alcohol Use Disorder	Genome
2440	35509074	9606	NA	Others	Case-control based	GWAS	GWAS	We identified a significant genetic correlation between FTD and schizophrenia at both genetic and transcriptomic levels. Meanwhile, robust genetic enrichment was observed between FTD and schizophrenia and alcohol use disorder. Seven shared genetic loci were identified, which were mainly involved in interleukin-induced signaling, synaptic vesicle, and brain-derived neurotrophic factor signaling pathways. By integrating cis-expression quantitative trait loci analysis, we identified MAPT and CADM2 as shared risk genes. MR analysis showed mutual causation between FTD and schizophrenia with nominal association.	Posttraumatic Stress Disorder	Genome
2441	35509074	9606	NA	Others	Case-control based	GWAS	GWAS	We identified a significant genetic correlation between FTD and schizophrenia at both genetic and transcriptomic levels. Meanwhile, robust genetic enrichment was observed between FTD and schizophrenia and alcohol use disorder. Seven shared genetic loci were identified, which were mainly involved in interleukin-induced signaling, synaptic vesicle, and brain-derived neurotrophic factor signaling pathways. By integrating cis-expression quantitative trait loci analysis, we identified MAPT and CADM2 as shared risk genes. MR analysis showed mutual causation between FTD and schizophrenia with nominal association.	Autism Spectrum Disorder	Genome
2442	35509074	9606	NA	Others	Case-control based	GWAS	GWAS	We identified a significant genetic correlation between FTD and schizophrenia at both genetic and transcriptomic levels. Meanwhile, robust genetic enrichment was observed between FTD and schizophrenia and alcohol use disorder. Seven shared genetic loci were identified, which were mainly involved in interleukin-induced signaling, synaptic vesicle, and brain-derived neurotrophic factor signaling pathways. By integrating cis-expression quantitative trait loci analysis, we identified MAPT and CADM2 as shared risk genes. MR analysis showed mutual causation between FTD and schizophrenia with nominal association.	Schizophrenia	Genome
2443	35509994	9606	NA	Others	Case report	Illumina HiSeq//Illumina Omni2.5 array chip//PCR	Illumina HiSeq//Illumina Omni2.5 array chip//PCR	This study aimed to determine the pathogenetic mechanism of the MBOAT7 missense variant via molecular modeling. Three patients from a consanguineous family were found to have a homozygous c.757G>A (p.Glu253Lys) variant of MBOAT7. The patients showed prominent dysfunction in gait, swallowing, vocalization, and fine motor function and had intellectual disabilities.	Intellectual Disability	Genome
2444	35524996	9606	NA	DSM-IV	Case-control based	RT-qPCR	RT-qPCR	NFKB1 showed the highest expression levels in the cerebellum, in which these levels were stratified by genotypes of rs230529. Interestingly, the allelic state of rs230529 was significantly associated with regional gray matter density in multiple brain regions (including the cerebellum), which also differed between patients with schizophrenia and controls. Furthermore, regulatory targets of NFKB1 were enriched among SZ susceptibility genes. A substantial proportion of NFKB1 target genes were subject to combinatorial regulation by NFKB1 and miRNAs, constituting a hybrid NFKB1-miRNA-gene regulatory network.	Schizophrenia	Genome
2445	35525984	9606	NA	Others	Case-control based	GWAS	GWAS	We identified multiple SNPs in the AKT3 gene that were strongly associated with schizophrenia (p < 0.5 × 10–8).	Schizophrenia	Genome
2446	35527273	9606	Blood	Others	Case-control based	GWAS//Meta-analysis//RNA-seq//Infinium Global Screening Array	GWAS//Meta-analysis//RNA-seq//Infinium Global Screening Array	Both Sherlock (P = 3. 38 × 10-6) and SMR (P = 1. 90 × 10-8) analyses showed that TYW5 mRNA expression was significantly associated with risk of SCZ. Brain-based studies also identified a significant association between TYW5 protein abundance and SCZ. The single-nucleotide polymorphism rs203772 showed significant association with SCZ and the risk allele is associated with higher transcriptional level of TYW5 in the prefrontal cortex. We further found that TYW5 was significantly upregulated in the brain tissues of SCZ cases compared with controls. In addition, TYW5 expression was also significantly higher in neurons induced from pluripotent stem cells of schizophrenia cases compared with controls. Finally, combining analysis of genotyping and MRI data showed that rs203772 was significantly associated with gray matter volume of the right middle frontal gyrus and left precuneus.	Schizophrenia	Genome
2447	35544191	9606	NA	Others	Case-control based	Illumina Infinium Beadchip	Illumina Infinium Beadchip	Known pathogenic CNVs defined by systematic literature review identified in the sample.	Schizophrenia	Genome
2448	35544990	9606	Blood	DSM-IV-TR	Case-control based	TaqMan//qRT-PCR	TaqMan//qRT-PCR	A single nucleotide polymorphism (SNP) in the CACNA1C gene (rs1006737), which encodes the alpha 1-C subunit of the L-type calcium channel, has been associated with BD and is reported to modulate intra-cellular Ca2+. Thus, this study aimed to explore the association of the CACNA1C genotype with ACC glutamatergic metabolites measured by 1H-MRS in both BD and HC subjects. A total of 194 subjects (121 euthymic BD type I patients and 73 healthy controls (HC) were genotyped for CACNA1C rs1006737, underwent a 3-Tesla 1H-MRS imaging examination and ACC glutamatergic metabolite were assessed. We found overall increased glutamatergic metabolites in AA carriers in BD. Specifically, higher Glx/Cr was observed in subjects with the AA genotype compared to both AG and GG in the overall sample (BD + HC).	Bipolar I Disorder	Genome
2449	35546631	9606	Blood	Others	Case-control based	Illumina HiSeq X//Illumina NovaSeq//PCR//Sanger Sequencing	Illumina HiSeq X//Illumina NovaSeq//PCR//Sanger Sequencing	Tandem repeat expansions (TREs) can cause neurological diseases but their impact in schizophrenia is unclear. Here we analyzed genome sequences of adults with schizophrenia and found that they have a higher burden of TREs that are near exons and rare in the general population, compared with non-psychiatric controls.	Schizophrenia	Genome
2450	35546631	9606	Blood	NA	Case-control based	Illumina HiSeq X//Illumina NovaSeq//PCR//Sanger Sequencing	Illumina HiSeq X//Illumina NovaSeq//PCR//Sanger Sequencing	Tandem repeat expansions (TREs) can cause neurological diseases but their impact in schizophrenia is unclear. Here we analyzed genome sequences of adults with schizophrenia and found that they have a higher burden of TREs that are near exons and rare in the general population, compared with non-psychiatric controls.	Schizophrenia	Genome
2451	35546635	9606	Blood	Others	Case-control based	WGS	WGS	Here, we analyzed genome sequences from 41 multiply-affected pedigrees and identified variants in 741 genes with nominally significant linkage or association with bipolar disorder. These 741 genes overlapped known risk genes for neurodevelopmental disorders and clustered within gene networks enriched for synaptic and nuclear functions.	Bipolar Disorder	Genome
2452	35546635	9606	Blood	NA	Case-control based	WGS	WGS	Here, we analyzed genome sequences from 41 multiply-affected pedigrees and identified variants in 741 genes with nominally significant linkage or association with bipolar disorder. These 741 genes overlapped known risk genes for neurodevelopmental disorders and clustered within gene networks enriched for synaptic and nuclear functions.	Bipolar Disorder	Genome
2453	35550617	9606	NA	Others	Case report	WES	WES	We present an 18-day-old baby with growth retardation and brain hypoplasia. Whole-exome sequencing was performed, which detected a hemizygous missense variant c.764G > A of CASK gene. The variant changed the 255th amino acid from Arg to His. Software based bioinformatics analyses were conducted to infer its functional effect.	Intellectual Disability	Genome
2454	35559026	9606	Blood	Others	Case-control based	Illumina NovaSeq6000	Illumina NovaSeq6000	In this study, we collected 25 Chinese parents-offspring trios, each of which consisted of a child diagnosed with ADHD and his/her unaffected parents, and analyzed the variations from whole-genome sequencing data. SNVs in reported ADHD-susceptible regions and on the genes whose functions were related to dopamine were screened, and we identified a set of variants with functional annotations which were specifically detected in ADHD children, including most SNVs in the gene coding region that might impair protein functions and a few SNVs in promoter or 3' untranslated region (3'-UTR) that might affect the regulation of relative gene expression in a transcriptional or posttranscriptional level.	Attention-Deficit/Hyperactivity Disorder	Genome
2455	35567594	9606	NA	Others	Case report	ES//Sanger Sequencing	ES//Sanger Sequencing	Here, we report on 22 patients with LoF variants in SRRM2 and provide a description of the phenotype. Molecular analysis identified 12 frameshift variants, 8 nonsense variants, and 2 microdeletions of 66 kb and 270 kb. The patients presented with a mild developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight, and dysmorphic facial features. Intellectual disability was variable and mild when present.	Neurodevelopmental Disorders	Genome
2456	35571680	9606	Blood	Others	Case report	Illumina HiSeq4000	Illumina HiSeq4000	Here, we report five unrelated individuals: two of them manifesting POBINDS, while three are identified to segregate a new intellectual disability-craniodigital syndrome (IDCS), distinct from POBINDS. The three IDCS individuals carried two different de novo missense variants affecting the same codon of CSNK2B. Both variants, NP_001311.3; p.Asp32His and NP_001311.3; p.Asp32Asn, lead to an upregulation of CSNK2B expression at transcript and protein level, along with global dysregulation of canonical Wnt signaling. We found impaired interaction of the two key players DVL3 and β-catenin with mutated CK2β. The variants compromise the kinase activity of CK2 as evident by a marked reduction of phosphorylated β-catenin and consequent absence of active β-catenin inside nuclei of the patient-derived lymphoblastoid cell lines (LCLs).	Intellectual Disability	Genome
2457	35590387	9606	NA	Others	Case-control based	GWAS	GWAS	We identified 16 functional SNPs (in 9 risk loci); these functional SNPs disrupted the binding of 7 TFs, for example, CTCF and REST binding was frequently disrupted. We then identified the potential target genes whose expression in the human brain was regulated by these functional SNPs through eQTL analysis. Of note, we showed dysregulation of some target genes of the identified TF binding-disrupting SNPs in BD patients compared with controls, and overexpression of PACS1 reduced the density of dendritic spines, revealing the possible biological mechanisms of these functional SNPs in BD.	Bipolar Disorder	Genome
2458	35604360	9606	NA	Others	Case report	ES	ES	In this study, we collected 14 SEMA6B heterozygous variants in 16 unrelated patients referred for intellectual disability to different centres.	Intellectual Disability	Genome
2459	35606706	9606	NA	DSM-V	Case-control based	PCR	PCR	In the current case-control study, we appraised the association between the rs4359 and rs1799752 polymorphisms and risk of bipolar disorder (type I and type II; BPDI and BPDII), schizophrenia (SCZ) and obsessive-compulsive disorder (OCD). The rs4359 was associated with risk of OCD, BPDI and BPDII in co-dominant and dominant models. The rs1799752 was associated with all assessed psychiatric conditions in four inheritance models except for BPDII whose association was not significant in recessive model. The I allele of rs1799752 was associated with OCD (adjusted FDR q-Value = 4.04E-04), SCZ (adjusted FDR q-Value = 6.00E-06), BPDI (adjusted FDR q-Value = 8.40E-03) and BPDII (adjusted FDR q-Value = 6.00E-06). The effective T allele of rs4359 showed a significant association with disease risk for BPDII group.	Obsessive Compulsive Disorder	Genome
2460	35606706	9606	NA	DSM-V	Case-control based	PCR	PCR	In the current case-control study, we appraised the association between the rs4359 and rs1799752 polymorphisms and risk of bipolar disorder (type I and type II; BPDI and BPDII), schizophrenia (SCZ) and obsessive-compulsive disorder (OCD). The rs4359 was associated with risk of OCD, BPDI and BPDII in co-dominant and dominant models. The rs1799752 was associated with all assessed psychiatric conditions in four inheritance models except for BPDII whose association was not significant in recessive model. The I allele of rs1799752 was associated with OCD (adjusted FDR q-Value = 4.04E-04), SCZ (adjusted FDR q-Value = 6.00E-06), BPDI (adjusted FDR q-Value = 8.40E-03) and BPDII (adjusted FDR q-Value = 6.00E-06). The effective T allele of rs4359 showed a significant association with disease risk for BPDII group.	Bipolar I Disorder	Genome
2461	35606706	9606	NA	DSM-V	Case-control based	PCR	PCR	In the current case-control study, we appraised the association between the rs4359 and rs1799752 polymorphisms and risk of bipolar disorder (type I and type II; BPDI and BPDII), schizophrenia (SCZ) and obsessive-compulsive disorder (OCD). The rs4359 was associated with risk of OCD, BPDI and BPDII in co-dominant and dominant models. The rs1799752 was associated with all assessed psychiatric conditions in four inheritance models except for BPDII whose association was not significant in recessive model. The I allele of rs1799752 was associated with OCD (adjusted FDR q-Value = 4.04E-04), SCZ (adjusted FDR q-Value = 6.00E-06), BPDI (adjusted FDR q-Value = 8.40E-03) and BPDII (adjusted FDR q-Value = 6.00E-06). The effective T allele of rs4359 showed a significant association with disease risk for BPDII group.	Bipolar II Disorder	Genome
2462	35606706	9606	NA	DSM-V	Case-control based	PCR	PCR	In the current case-control study, we appraised the association between the rs4359 and rs1799752 polymorphisms and risk of bipolar disorder (type I and type II; BPDI and BPDII), schizophrenia (SCZ) and obsessive-compulsive disorder (OCD). The rs4359 was associated with risk of OCD, BPDI and BPDII in co-dominant and dominant models. The rs1799752 was associated with all assessed psychiatric conditions in four inheritance models except for BPDII whose association was not significant in recessive model. The I allele of rs1799752 was associated with OCD (adjusted FDR q-Value = 4.04E-04), SCZ (adjusted FDR q-Value = 6.00E-06), BPDI (adjusted FDR q-Value = 8.40E-03) and BPDII (adjusted FDR q-Value = 6.00E-06). The effective T allele of rs4359 showed a significant association with disease risk for BPDII group.	Schizophrenia	Genome
2463	35611833	9606	NA	DSM-V	Case-control based	Agilent SurePrint G3 human CGH 400k	Agilent SurePrint G3 human CGH 400k	Of the samples analyzed with aCGH, 70 severe ED patients (98.6%) and 1036 controls (99.1%) passed our quality control filtering. We obtained 189 and 2539 rare CNVs from patients and controls, respectively. NDD-CNVs were identified in 10.0% (7/70) of patients and 2.3% (24/1036) of controls. Statistical analysis revealed a significant association between NDD-CNVs and EDs (odds ratio = 4.69, P = 0.0023). NDD-CNVs in ED patients included 45,X and deletions at KATNAL2, DIP2A, PTPRT, RBFOX1, CNTN4, MACROD2, and FAM92B. Four of these genes were related to synaptic function. In gene set analysis, we observed a nominally significant enrichment of rare exonic CNVs in synaptic signaling in ED patients (odds ratio = 2.55, P = 0.0254).	Eating Disorder	Genome
2464	35611833	9606	NA	DSM-V	Case-control based	Agilent SurePrint G3 human CGH 400k	Agilent SurePrint G3 human CGH 400k	Of the samples analyzed with aCGH, 70 severe ED patients (98.6%) and 1036 controls (99.1%) passed our quality control filtering. We obtained 189 and 2539 rare CNVs from patients and controls, respectively. NDD-CNVs were identified in 10.0% (7/70) of patients and 2.3% (24/1036) of controls. Statistical analysis revealed a significant association between NDD-CNVs and EDs (odds ratio = 4.69, P = 0.0023). NDD-CNVs in ED patients included 45,X and deletions at KATNAL2, DIP2A, PTPRT, RBFOX1, CNTN4, MACROD2, and FAM92B. Four of these genes were related to synaptic function. In gene set analysis, we observed a nominally significant enrichment of rare exonic CNVs in synaptic signaling in ED patients (odds ratio = 2.55, P = 0.0254).	Neurodevelopmental Disorders	Genome
2465	35615967	9606	NA	DSM-IV-TR	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	We performed a meta-analysis of GWASs and a gene-based analysis on two Northern Italy isolated populations (cases/controls n = 166/472 and 33/320), followed by replication and polygenic risk score (PRS) analyses in Italian independent samples (cases n = 464, controls n = 339). We identified two novel MDD-associated genes, KCNQ5 (lead SNP rs867262, p = 3.82 × 10-9) and CTNNA2 (rs6729523, p = 1.25 × 10-8).	Major Depressive Disorder	Genome
2466	35616059	9606	NA	DSM-IV	Case report	ES//WGS	ES//WGS	In this study, we obtained phenotype and genotype information of 26 further individuals from 16 families. Among the 27 different ZNF142 variants identified in the total of 35 individuals only four were missense. Missense variants may give a milder phenotype by changing the local structure of ZF motifs as suggested by protein modeling; but this correlation should be validated in larger cohorts and pathogenicity of the missense variants should be investigated with functional studies. Clinical features of the 35 individuals suggest that biallelic ZNF142 variants lead to a syndromic neurodevelopmental disorder with mild to moderate ID, varying degrees of delay in language and gross motor development, early onset seizures, hypotonia, behavioral features, movement disorders, and facial dysmorphism. The differences in symptom frequencies observed in the unpublished individuals compared to those of published, and recognition of previously underemphasized facial features are likely to be due to the small sizes of the previous cohorts, which underlines the importance of larger cohorts for the phenotype descriptions of rare genetic disorders.	Intellectual Disability	Genome
2467	35623238	9606	NA	DSM-IV	Case-control based	PCR//Genotyping	PCR//Genotyping	49 systematically prioritized variants from 2737 genome-wide HARs were genotyped in a north-Indian schizophrenia cohort (331 cases, 235 controls). Six variants were significantly associated with cognitive impairment in schizophrenia, thirteen with general cognition in healthy individuals. These variants were mapped to 122 genes; predicted to alter 79 transcription factors binding sites and overlapped with promoters, enhancers and/or repressors. These genes and TFs are implicated in neurocognitive phenotypes, autism, schizophrenia and bipolar disorders; a few are targets of common or repurposable antipsychotics suggesting their draggability; and enriched for immune response and brain developmental pathways. Immune response has been more strongly targeted by natural selection during human evolution and has a prominent role in neurodevelopment. Thus, its disruption may have deleterious consequences for neuronal and cognitive functions.	Schizophrenia	Genome
2468	35627125	9606	Blood	Others	Case report	Illumina NovaSeq6000//qRT-PCR	Illumina NovaSeq6000//qRT-PCR	The proband showed characteristics of CdLS including thick eyebrows, a concave nasal ridge, long and smooth philtrum, downturned corners of the mouth, intellectual disability, postnatal growth retardation, and a short fifth toe. A novel de novo heterozygous pathogenic variant in the NIPBL (c.-467C>T) was identified. A Dual-Luciferase reporter gene assay showed that SPO1 (-490 bp to -360 bp) and SPO3 (-490 bp to -401 bp) induced the highest activity.	Intellectual Disability	Genome
2469	35627244	9606	Blood	NA	Case report	aCGH	aCGH	We report on eight patients with 11q14.1 imbalances involving DLG2, underlining its potential effects on clinical presentation and its contribution to NDD comorbidity by accurate neuropsychiatric data collection. DLG2 is a very large gene in 11q14.1, extending over 2.172 Mb, with alternative splicing that gives rise to numerous isoforms differentially expressed in brain tissues.	Neurodevelopmental Disorders	Genome
2470	35628442	9606	Blood	WPPSI-III//WISC-IV	Case report	Illumina NextSeq550//Sanger Sequencing//Neuroimaging//Transfection Experiments//Immunoblotting//RT-PCR//Immunocytochemistry//In Situ Hybridization//Immunohistochemistry//AP-Binding Assay	Illumina NextSeq550//Sanger Sequencing//Neuroimaging//Transfection Experiments//Immunoblotting//RT-PCR//Immunocytochemistry//In Situ Hybridization//Immunohistochemistry//AP-Binding Assay	Here, by combining exome sequencing with in silico analyses, we identified a patient affected by severe ID and cognitive regression, carrying a novel loss-of-function variant in the semaphorin 3E (SEMA3E) gene, which encodes for a key secreted cue that controls mouse brain development.	Intellectual Disability	Genome
2471	35633798	9606	Blood	DSM-IV	Case-control based	MassARRAY SNP IPLEX	MassARRAY SNP IPLEX	Hypotheses about OCD mainly include dysregulated neurotransmitters, especially serotonin, and disturbed neurodevelopment. Single nucleotide polymorphism (SNP) association studies regarding OCD are often met with inconsistent results. However, stratification by age of onset may sometimes help to limit the heterogenicity of OCD patients. Therefore, we conducted a stratified SNP association study enrolling 636 patients and 612 healthy controls.  The demographic and clinical characteristics of participants were presented in Table 1. Sex (p < 0.001) and age (p < 0.001) were different between OCD and control. Sex (p < 0.001), age (p < 0.001), age of onset (p < 0.001), course of disease (p < 0.001), HAMD24 (p = 0.001), HAMA (p = 0.003), and TAI (p = 0.006) was different between EO-OCD and LO-OCD. The characteristics of SNPs are summarized in Table 2. Four SNPs including rs6296, rs4570625, rs10144193, and rs1042173 deviated from HWE (p < 0.05) and were excluded from the following analyses.	Obsessive Compulsive Disorder	Genome
2472	35654767	9606	NA	CBCL 6-18	Case-control based	Affymetrix NIDA SmokeScreen Array	Affymetrix NIDA SmokeScreen Array	Here, we examined the interrelationships of the GMVs, rs945270 alleles, and ADHD symptom scores in the same cohort of children. With data of rs945270 genotypes, GMVs of 118 brain regions, and ADHD symptom scores of 3372 boys and 3129 girls of the Adolescent Brain Cognition Development project, we employed linear regression analyses to examine the pairwise correlations adjusted for the third of the three traits and other relevant covariates, and examine their mediation effects.	Attention-Deficit/Hyperactivity Disorder	Genome
2473	35680849	9606	NA	DSM-IV	Case-control based	GWAS//Sanger Sequencing	GWAS//Sanger Sequencing	To detect mutations in PTBP2, Sanger sequencing of the coding region was performed in 192 female patients with AN (acute or recovered) and 191 children or adolescents with (extreme) obesity. Twenty-five variants were identified. Twenty-three of these were predicted to be pathogenic or functionally relevant in at least one in silico tool. Two novel synonymous variants (p.Ala77Ala and p.Asp195Asp), one intronic SNP (rs188987764), and the intronic deletion (rs561340981) located in the highly conserved region of PTBP2 may have functional consequences.	Anorexia Nervosa	Genome
2474	35684946	9606	Blood	Others	Case report	ES//Sanger Sequencing	ES//Sanger Sequencing	Two biallelic variants in EMC10 have previously been associated with a neurodevelopmental disorder. Utilizing exome sequencing and international data sharing we have identified 10 affected individuals from six independent families with five new biallelic loss-of-function and one previously reported recurrent EMC10 variants. This report expands the molecular and clinical spectrum of EMC10 deficiency, provides a comprehensive dysmorphological assessment and highlights an overlap between the clinical features of EMC10-and EMC1-related disease.	Intellectual Disability	Genome
2475	35690084	9606	Blood	Others	Case report	Illumina NovaSeq6000//Sanger Sequencing//RT-PCR	Illumina NovaSeq6000//Sanger Sequencing//RT-PCR	The proband manifested mainly as mental retardation and language impairment. Trio WES revealed a novel heterozygous variant c.3354 + 5 G > A in intron 23 of MED12. RNA-seq identified two aberrant transcripts. XCI assay on AR revealed a homozygous result, while XCI based on RP2 showed random pattern in peripheral blood.	Intellectual Disability	Genome
2476	35698242	9606	NA	Others	Case report	NGS//WES	NGS//WES	We describe the broader genetic and phenotypic variability for KIS in a cohort of individuals identifying an additional mutational hotspot at p.Arg131 and demonstrating the common features of this neurodevelopmental disorder to include motor and speech delay, intellectual disability, early feeding difficulties, muscular hypotonia, behavioral abnormalities, and dysmorphic features. The computational protein modeling and in vitro electrophysiological studies discover variability of the impact of KCNK9 variants on TASK3 channel function identifying variants causing gain and others causing loss of conductance. The most consistent functional impact of KCNK9 genetic variants, however, was altered channel regulation.	Neurodevelopmental Disorders	Genome
2477	35703069	9606	Blood	Others	Family based	Illumina NovaSeq//Sanger Sequencing	Illumina NovaSeq//Sanger Sequencing	In this study, we investigated a consanguineous Pakhtun Pakistani family. There were four affected siblings at the time of this study and one affected girl had died in infancy. The index patient had severe intellectual disability, global developmental delay, dystonia, no speech development, feeding difficulties, and nystagmus. MRI brain presented thinning of corpus callosum and polymicrogyria. Whole exome sequencing revealed a novel compound heterozygous variant in GFM1 located on chromosome 3q25.32. Sanger sequencing confirmed recessive segregation of the maternal (NM_001308164.1:c.409G > A; p.Val137Met) and paternal (NM_001308164.1:c.1880G > A; p.Arg627Gln) variants in all the four affected siblings.	Intellectual Disability	Genome
2478	35705636	9606	Blood	DSM-IV-TR	Case-control based	Illumina OmniExpress//Illumina OmniExpressExome BeadChips	Illumina OmniExpress//Illumina OmniExpressExome BeadChips	In this study, we used DNA methylation derived telomere length (DNAmTL) as a novel approach to investigate the role of alcohol use on the aging process. DNAmTL was estimated by 140 cytosine phosphate guanines (CpG) sites in 372 individuals with alcohol use disorder (AUD) and 243 healthy controls (HC) and assessed using various endophenotypes and clinical biomarkers. Validation in an independent sample of DNAmTL on alcohol consumption was performed (N = 4219). Exploratory genome-wide association studies (GWAS) on DNAmTL were also performed to identify genetic variants contributing to DNAmTL shortening.	Alcohol Use Disorder	Genome
2479	35714915	9606	NA	Others	Case-control based	GWAS	GWAS	In this study, we analyzed the largest available GWAS datasets for SCZ (N = 161,405) and MS (N = 41,505) using Gaussian causal mixture modeling (MiXeR) and conditional/conjunctional false discovery rate (condFDR) frameworks to explore and quantify the shared genetic architecture of these two complex disorders at common variant level. Despite detecting only a negligible genetic correlation (rG = 0.057), we observe polygenic overlap between SCZ and MS, and a substantial genetic enrichment in SCZ conditional on associations with MS, and vice versa. By leveraging this cross-disorder enrichment, we identified 36 loci jointly associated with SCZ and MS at conjunctional FDR < 0.05 with mixed direction of effects.	Schizophrenia	Genome
2480	35717577	9606	Blood	Others	Case report	Illumina NovaSeq6000	Illumina NovaSeq6000	In this study, de novo CTR9 non-synonymous variants (p.(Glu15Asp) and p.(Pro25Arg)) were detected in two unrelated patients with macrocephaly, motor delay, and intellectual disability.	Neurodevelopmental Disorders	Genome
2481	35717853	9606	NA	Others	Case-control based	Meta-analysis	Meta-analysis	Extraversion was positively correlated with ADHD (rg = 0.205) and negatively correlated with ASD (rg = -0.193). The MR analysis showed that ADHD confers a causal effect on ASD (OR: 1.35, 95% confidence interval (CI):1.20-1.52) and vice versa (1.46, 1.38-1.55). Extraversion exerts a causal effect on ADHD only (1.19, 1.05-1.33). The cross-trait meta-analysis identified three novel pleiotropic genomic loci for ADHD and ASD, involving two pleiotropic genes, LINC00461 and KIZ.	Attention-Deficit/Hyperactivity Disorder	Genome
2482	35728455	9606	NA	Others	Case-control based	Dual-luciferase Reporter Assays//Sanger Sequecing	Dual-luciferase Reporter Assays//Sanger Sequecing	Although our study found a novel enhancer element and a functional SNP rs13423388 in ZNF804A, our results should be interpreted with caution for at least three reasons. First, this enhancer region may be not the only region that can regulate the expression of ZNF804A, and it might constitute one of the important regulatory regions of ZNF804A activity. Second, SNP rs13423388 may be not the only functional SNP in the enhancer region of ZNF804A, although a previous study did not find other SNPs associated with schizophrenia in this short-conserved region (Zhang et al., 2011). Third, to our knowledge, SNP rs13423388 in schizophrenia has not been studied by other groups to date, and the justification for this SNP may be weak.	Schizophrenia	Genome
2483	35733350	9606	Buccal cell	K-ABC//PVT-R//	Case-control based	Genotyping	Genotyping	We present the first evidence of an association between CNTNAP2 rs2710102 (A-allele carrier) and reduced receptive language ability in children with ASD whose language development was not delayed. Similarly, among children with typical development, A-allele carriers had lower receptive language ability, but the difference was non-significant.	Autism Spectrum Disorder	Genome
2484	35741772	9606	Blood	DSM-V	Case-control based	Illumina HiSeq X10	Illumina HiSeq X10	The effectiveness and validity of clinical targeted panel sequencing (CTPS) designed to analyze both CNVs and SNVs can be evaluated in different ASD cohorts. CTPS was performed on 573 patients with the diagnosis of ASD. Medical records of positive CTPS cases were further reviewed and analyzed. Additional medical examinations were performed for a group of selective cases. Positive molecular findings were confirmed by orthogonal methods. The overall positive rate was 19.16% (109/569) in our cohort. About 13.89% (79/569) and 4.40% (25/569) of cases had SNVs only and CNVs only findings, respectively, while 0.9% (5/569) of cases had both SNV and CNV findings. For cases with SNVs findings, the SHANK3 gene has the greatest number of reportable variants, followed by gene MYT1L. Patients with MYT1L variants share common and specific clinical characteristics. We found a child with compound heterozygous SLC26A4 variants had an enlarged vestibular aqueduct syndrome and autistic phenotype. Our results showed that CTPS is an effective molecular diagnostic tool for ASD.	Autism Spectrum Disorder	Genome
2485	35743672	9606	Blood	Others	Case report	Illumina	Illumina	The reported patient is a 32-year-old male and as an infant was noted to have microcephaly, hypospadias, pulmonary vascular anomaly, and small stature. He was diagnosed with Cornelia De Lange Syndrome (CDLS) at that time based on the clinical features. As a child, he had autistic features and intellectual disabilities and as diagnoses with autism and intellectual disability. He was referred as an adult to our neurodiversity clinic and a full exome trio sequencing with reflex to mitochondrial genes identified a de novo variant of uncertain significance in a candidate gene, DCAF1. The specific variant was c.137 C &gt; T (p.Thr46Ile) in exon 4 in the DCAF1 gene.	Autism Spectrum Disorder	Genome
2486	35752286	9606	Blood	Others	Case-control based	GWAS	GWAS	Plasma FGF21 levels were positively correlated with recent alcohol consumption and gamma-glutamyl transferase levels, a commonly used marker for heavy alcohol use. One variant, rs9914222, located 5' of SNHG16 on chromosome 17 was associated with plasma FGF21 levels (p = 4.60E-09). This variant was also associated with AUD risk (β: -3.23; p:0.0004). The rs9914222 SNP is an eQTL for SNHG16 in several brain regions, i.e., the variant genotype was associated with decreased expression of SNHG16. The variant genotype for the rs9914222 SNP was also associated with higher plasma FGF21 levels.	Alcohol Use Disorder	Genome
2487	35759154	9606	Blood	DSM-V	Family based	Illumina HiSeq	Illumina HiSeq	Herein, we explored de novo TE insertions (dnTEIs) and de novo variants (DNVs) across the genomes of dizygotic twins with ASD and their parents. The neuronal regulatory elements had a tendency to harbor dnTEIs that were shared between twins, but ASD-risk genes had dnTEIs that were unique to each twin. The dnTEIs were 4.6-fold enriched in enhancers that are active in embryonic stem cell (ESC)-neurons (p < 0.001), but DNVs were 1.5-fold enriched in active enhancers of astrocytes (p = 0.0051). Our findings suggest that dnTEIs and DNVs play a role in ASD etiology by disrupting enhancers of neurons and astrocytes.	Autism Spectrum Disorder	Genome
2488	35760210	9606	Blood	DSM-IV	Case-control based	qPCR//TaqMan	qPCR//TaqMan	This study was conducted to examine the relationship of TL to AUD and determine whether single nucleotide polymorphisms (SNPs) in TERC and TERT modulate this association. For this purpose, we genotyped TERC SNPs rs2293607, rs12696304, and rs16847897 and TERT SNPs rs2735940, rs2736100, and rs2736098 in 308 male patients with AUD and 255 sex-matched healthy controls and measured TL in a subset of 99 patients and 99 controls paired by age and smoking status. Our results showed that the mean TL was shorter in patients with AUD than in controls. The area under the ROC curve was 0.70 (P < 0.001). The GG genotype of TERC rs2293607 was more common among patients with AUD than among controls (9.8% vs. 5.1%; P = 0.038). No difference was found for the other SNPs. Carriers of the GG genotype of rs2293607 had shorter telomeres than did allele A carriers.	Alcohol Use Disorder	Genome
2489	35764056	9606	NA	Others	Case-control based	Meta-analysis	Meta-analysis	Polygenic overlap analysis indicated that all the risk variants contributing to ADHD are overlapped with half of those for intelligence, and the majority of the shared variants have opposite effect directions between them. The majority of risk variants (80%) of ASD are overlapped with almost all the risk variants of intelligence (97%). Notably, some ASD/intelligence overlapping variants displayed opposing effects on these two conditions. MR analysis showed that the genetic liability to higher intelligence was associated with an increased risk for ASD (OR = 1.12) and a decreased risk for ADHD (OR = 0.78). Cross-trait meta-analyses identified 170 pleiotropic genomic loci across the three traits, including 12 novel loci.	Attention-Deficit/Hyperactivity Disorder	Genome
2490	35769015	9606	NA	Others	Case report	WES//Sanger Sequencing	WES//Sanger Sequencing	Here we present data on seven individuals from four families with biallelic and 13 individuals from seven families with monoallelic (heterozygous) variants of RELN and frontotemporal or temporal-predominant lissencephaly variant. Some individuals with monoallelic variants have moderate frontotemporal lissencephaly, but with normal cerebellar structure and intellectual disability with severe behavioural dysfunction.	Neurodevelopmental Disorders	Genome
2491	35773235	9606	NA	Others	Case report	ES	ES	We developed a novel individualized platform to identify SZT2 loss-of-function variants in the context of mTORC1 signalling and reclassify VUS. Using this platform, we identified a recurrent in-frame deletion (SZT2 p.Val1984del) which was determined to be a loss-of-function variant and therefore likely pathogenic. Haplotype analysis revealed that this single in-frame deletion is a founder variant in those of Ashkenazi Jewish ancestry. Moreover, this approach allowed us to tentatively reclassify all of the VUS in our cohort of 12 individuals, identifying five individuals with biallelic pathogenic or likely pathogenic variants. Clinical features of these five individuals consisted of early-onset seizures (median 24 months), focal seizures, developmental delay and macrocephaly similar to previous reports.	Neurodevelopmental Disorders	Genome
2492	35774559	9606	NA	Others	Case report	WES//Sanger Sequencing	WES//Sanger Sequencing	In the present study, we describe the clinical and genetic characteristics of eight individuals with POBINDS, most of whom suffered developmental delay, generalized epilepsy, and hypotonia. Minigene experiments confirmed that two intron variants (c.367+5G>A and c.367+6T>C) resulted in the skipping of exon 5, leading to a premature termination of mRNA transcription.	Neurodevelopmental Disorders	Genome
2493	35782384	9606	Blood	Others	Case report	Illumina NovaSeq6000	Illumina NovaSeq6000	This is the first report that associates SPTBN5 gene variants (ENSG00000137877: c.266A>C; p.His89Pro, c.9784G>A; p.Glu3262Lys, c.933C>G; p.Tyr311Ter, and c.8809A>T; p.Asn2937Tyr) causing neurodevelopmental phenotypes in four different families. The SPTBN5-associated clinical traits in our patients include intellectual disability (mild to severe), aggressive tendencies, accompanied by variable features such as craniofacial and physical dysmorphisms, autistic behavior, and gastroesophageal reflux. We also provide a review of the existing literature related to other spectrin genes, which highlights clinical features partially overlapping with SPTBN5.	Intellectual Disability	Genome
2494	35790736	9606	Blood	Others	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	Genome-wide association studies (GWAS) in admixed populations such as African Americans (AA) have limited sample sizes, resulting in poor performance of polygenic risk scores (PRS). Based on the observations that many disease-causing genes are shared between AA and European ancestry (EA) populations, and some disease-causing variants are located within the boundaries of these genes, we proposed a novel gene-based PRS framework (PRSgene) by using variants located within disease-associated genes. Using the AA GWAS of alcohol use disorder (AUD) from the Million Veteran Program and the EA GWAS of problematic alcohol use as the discovery GWAS, we identified 858 variants from 410 genes that were AUD-related in both AA and EA.	Alcohol Use Disorder	Genome
2495	35790736	9606	Blood	NA	Case-control based	GWAS//Meta-analysis	GWAS//Meta-analysis	Genome-wide association studies (GWAS) in admixed populations such as African Americans (AA) have limited sample sizes, resulting in poor performance of polygenic risk scores (PRS). Based on the observations that many disease-causing genes are shared between AA and European ancestry (EA) populations, and some disease-causing variants are located within the boundaries of these genes, we proposed a novel gene-based PRS framework (PRSgene) by using variants located within disease-associated genes. Using the AA GWAS of alcohol use disorder (AUD) from the Million Veteran Program and the EA GWAS of problematic alcohol use as the discovery GWAS, we identified 858 variants from 410 genes that were AUD-related in both AA and EA.	Alcohol Use Disorder	Genome
2496	35800018	9606	Blood	ICD-9-CM	Case-control based	Affymetrix Axiom Genome-Wide TWB 1.0 Array Plate	Affymetrix Axiom Genome-Wide TWB 1.0 Array Plate	A total of 636 individuals were identified with MDD, whereas 17,298 individuals were considered controls. The associations of MTHFR rs17367504 and exercise with MDD risk were estimated using logistic regression models. The distribution of MTHFR rs17367504 genotype frequencies differed significantly between the MDD and control groups. We found that, compared with the AA genotype, the GG genotype was associated with a significantly increased risk of MDD [adjusted odds ratio (aOR), 1.76; 95% confidence interval (CI), 1.05–2.94; p = 0.033]. We found an interaction (p = 0.04) between rs17367504 and exercise, a well-known protective factor for MDD. A substantial increase in the risk of MDD was found among those with GG genotypes who did not exercise (aOR, 2.93; 95% CI, 1.66–5.17; p < 0.001).	Major Depressive Disorder	Genome
2497	35801084	9606	Blood	DSM-IV	Case report	Genotyping//PCR	Genotyping//PCR	Compared with rs1635 AA and AC carriers, CC (the CC genotype encodes the protein NKAPL-152T) carriers of EOS patients performed better in cognitive domain of speed of processing (t = 2.644, p = 0.009), trail making test (t = 2.221, p = 0.028) and category fluency (t = 2.578, p = 0.011). However, patients with AOS exhibited no significant differences in seven domains among the three genotype groups. There were no significant differences in cognitive performance between EOS and AOS. In EOS patients, NKAPL mRNA level in NKAPL-152N carriers is significantly lower than that of NKAPL-152T carriers. The phosphorylation level of NKAPL-152N is significantly decreased compared to NKAPL-152T. In utero electroporation showed that Nkapl deletion impairs the embryonic radial migration process.	Schizophrenia	Genome
2498	35804254	9606	Blood	Others	Case report	Illumina MiSeq//Sanger Sequencing	Illumina MiSeq//Sanger Sequencing	Karyotyping has revealed 12% of mosaics in the patient who carries a novel variant in BUB1B gene (c.2679A > T, p.Arg893Ser) detected by WES. Thirty-one cases of MVA1 including the present report, and four prenatally diagnosed cases with MVA1 were selected and inspected.	Intellectual Disability	Genome
2499	35806906	9606	Blood	DSM-V	Case-control based	Affymetrix TWB Array	Affymetrix TWB Array	We found three SNPs that were significantly associated with MDD in our NAD-related candidate pathways, one within the KP (rs12622574 in ACMSD) and two within the nicotinate metabolism (rs28532698 in BST1 and rs3733593 in CD38). The observed association with MDD was significant in the dominant model of inheritance with marital status, education level, and body mass index (BMI) adjusted as covariates. Lastly, in haplotype analysis, the three associated SNPs consisted of one haploblock in ACMSD, four haploblocks in BST1, and two haploblocks in CD38.	Major Depressive Disorder	Genome
2500	35813072	9606	Cell lines(Leucocytes)	Others	Case-control based	Illumina HiSeq4000	Illumina HiSeq4000	WES was performed on 147 Slovenian pediatric patients with suspected ASD. Data analysis was focused on identifying ultrarare or single event variants in ASD-associated genes and further expanded to NDD-associated genes.	Autism Spectrum Disorder	Genome
2501	35813072	9606	Cell lines(Leucocytes)	NA	Case-control based	Illumina HiSeq4000	Illumina HiSeq4000	WES was performed on 147 Slovenian pediatric patients with suspected ASD. Data analysis was focused on identifying ultrarare or single event variants in ASD-associated genes and further expanded to NDD-associated genes.	Autism Spectrum Disorder	Genome
2502	35815047	9606	Blood	DSM-V	Case-control based	ELISA	ELISA	There were no significant differences in the genotype frequency (p = 0.79) or allele frequency (p = 0.88) between PD patients and health controls. BDNF plasma levels of PD patients were significantly lower than those in control group (p = 0.003). BDNF plasma levels of the Met/Met genotype were significantly lower than those of Val/Met genotype in PD patients (p = 0.033). PD patients carried Met/Met genotype showed significantly higher scores in STAI trait compared to those carried Val/Val genotype (p = 0.045) and Val/Met genotype (p = 0.018). STAI trait scores of PD patients with agoraphobia were significantly higher than those of patients without agoraphobia (p < 0.05). The ANCOVA showed that the dependent variable STAI trait score was significantly affected by factor "genotype" (Val/Val, Val/Met, Met/Met, p = 0.029), and covariate "agoraphobia" (p = 0.008). In this model, 11.5% of the variance of the STAI trait score was explained by the BDNF genotype. Contrast analysis showed STAI trait scores of Met/Met subjects were significantly higher than those of Val/Met (p = 0.018) and Val/Val individuals (p = 0.045).	Panic Disorder	Genome
2503	35815345	9606	NA	Others	Case report	Illumina HiSeq	Illumina HiSeq	We present three affected individuals from two families with biallelic variants (p.Met1? and p.(Asp419Asn)) in WARS1, showing varying severities of developmental delay and intellectual disability. Hearing impairment and microcephaly, as well as abnormalities of the brain, skeletal system, movement/gait, and behavior were variable features.	Intellectual Disability	Genome
2504	35833929	9606	NA	Others	Case report	ES//In Silico Analyses//Cell-based Experiments	ES//In Silico Analyses//Cell-based Experiments	We identified 20 unique, mostly de novo, ANKRD11 missense variants in 29 individuals, presenting with syndromic neurodevelopmental disorders similar to KBG syndrome caused by ANKRD11 protein truncating variants or 16q24.3 microdeletions. Missense variants significantly clustered in repression domain 2 at the ANKRD11 C-terminus. Of the 10 functionally studied missense variants, 6 reduced ANKRD11 stability. One variant caused decreased proteasome degradation and loss of ANKRD11 transcriptional activity.	Neurodevelopmental Disorders	Genome
2505	35837997	9606	Blood	Others	Case report	Illumina NovaSeq6000//Sanger Sequencing	Illumina NovaSeq6000//Sanger Sequencing	We identified five novel de novo mutations from four known ID-causing genes in the four included patients, namely COL4A1 (c.2786T>A, p.V929D and c.2797G>A, p.G933S), TBR1 (c.1639_1640insCCCGCAGTCC, p.Y553Sfs*124), CHD7 (c.7013A>T, p.Q2338L), and TUBA1A (c.1350del, p.E450Dfs*34). These mutations were all predicted to be deleterious and were located at highly conserved domains that might affect the structure and function of these proteins.	Intellectual Disability	Genome
2506	35840571	9606	NA	Others	Case report	ES//Sanger Sequencing	ES//Sanger Sequencing	In the present study, we report on rare variants (one nonsense and six missense variants) in SLITRK2 on the×chromosome identified by exome sequencing in individuals with neurodevelopmental disorders.	Neurodevelopmental Disorders	Genome
2507	35840799	9606	Blood//Cell lines(hiPSC//pNSCs)	Others	Family based	Illumina Hiseq X	Illumina Hiseq X	To assess whether bi-allelic coding variants contribute to the ASD risk, we identified rare homozygous variants (Supplementary Table 4) and compound heterozygous variants (Supplementary Table 5) from ASD probands and unaffected siblings.	Autism Spectrum Disorder	Genome
2508	35840799	9606	Blood//Cell lines(hiPSC//pNSCs)	NA	Family based	Illumina Hiseq X	Illumina Hiseq X	To assess whether bi-allelic coding variants contribute to the ASD risk, we identified rare homozygous variants (Supplementary Table 4) and compound heterozygous variants (Supplementary Table 5) from ASD probands and unaffected siblings.	Autism Spectrum Disorder	Genome
2509	35846113	9606	Blood	Others	Case report	Illumina HiSeq4000//Sanger Sequencing	Illumina HiSeq4000//Sanger Sequencing	We report our clinical encounter with a 1-year-old infant with HSMR features. Mutation screening for this trio family was performed using next-generation sequencing (NGS)-based whole exome sequencing (WES) with the identified mutation verified by Sanger sequencing. We identified a de novo heterozygous mutation c.G1439T (R480L) in the essential cystathionine β-synthase (CBS) domain of CNNM2 encoding CNNM2 (cyclin M2) without any other gene mutations related to hypomagnesemia. The amino acid involved in this missense mutation was conserved in different species. It was also found to be pathogenic based on the different software prediction models and ACGME criteria.	Neurodevelopmental Disorders	Genome
2510	3800361	9606	Blood//Brain	NA	Case-control based	TaqMan PCR assay	TaqMan	Our results suggest that the TREM2 p.R47H substitution is a risk factor for frontotemporal dementia and Parkinsona€<U+2122>s disease in addition to Alzheimera€<U+2122>s disease.	Frontotemporal Neurocognitive Disorder	Genome
2511	8746407	9606	Blood	NA	Case-control based	NA	Genotyping	We report two novel polymorphisms and a rare deletion variant in the human dopaine D4 receptor gene. The two polymorphisms are characterized by single base pair substitutions, namely a G-->C transversion changing codon 11 from GGG (encoding Gly) to CGG (encoding Arg) and a C-->T transition in position -11 upstream from the start codon.	Obsessive Compulsive Disorder	Genome
2512	9800217	9606	Blood	NA	Family based	NA	qPCR	Significant differences in allele frequencies were found between patients and controls for the D4 receptor gene, although replication is required with family-based controls before any conclusions can be entertained.	Obsessive Compulsive Disorder	Genome
