Autism spectrum disorder

Disease Term Disease ID Gene Symbol Classification References Source
Autism spectrum disorder due to AUTS2 deficiency 352490 AUTS2 Causal Pathogenic evidence from ClinVar - ClinVar
Autism Spectrum Disorders C1510586 CHD8 Causal Pathogenic evidence from ClinVar 22083958, 22495309, 24998929, 26789910, 27602517, 27824329, 28191889, 30670789 ClinVar
CNTNAP2 Causal Pathogenic evidence from ClinVar 20176116, 21082657, 21572417, 21962519, 30763456 ClinVar
DEAF1 Causal Pathogenic evidence from ClinVar 30763456 ClinVar
IQSEC2 Causal Pathogenic evidence from ClinVar 30763456 ClinVar
MAP2K1 Causal Pathogenic evidence from ClinVar 30763456 ClinVar
MEF2C Causal Pathogenic evidence from ClinVar 20412115, 30763456 ClinVar
PTEN Causal Pathogenic evidence from ClinVar 30763456 ClinVar
RNF135 Causal Pathogenic evidence from ClinVar 30763456 ClinVar
SBF1 Causal Pathogenic evidence from ClinVar 30763456 ClinVar
SHANK2 Causal Pathogenic evidence from ClinVar 30763456 ClinVar
SHANK3 Causal Pathogenic evidence from ClinVar 17173049, 18252227, 25356970, 30763456 ClinVar
TOP2B Causal Pathogenic evidence from ClinVar - ClinVar
ANKRD11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18252227 -
AVPR1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20546835 -
BDNF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24781735 -
CA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 31209396 -
CADPS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30804558 -
CDH10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28191889 -
CEP41 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21438139 -
CHD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28191889 -
CIC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28288114 -
CIRBP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24781735 -
CTTNBP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28191889 -
DDHD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 31209396 -
DHCR24 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24781735 -
DIO2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24781735 -
DIO3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24781735 -
DIP2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28191889 -
DIPK2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21283809 -
DIPK2B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21264219, 21283809 -
DLG4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20952458 -
DLX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21302352 -
DNMT3A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25290267 -
DNMT3B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25290267 -
DPP10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18252227 -
DPP6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18252227, 20844286 -
DPYD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18252227, 20844286 -
EHMT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27651234 -
EN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25290267 -
EPHX2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30890645 -
FEV Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 31209396 -
FOXP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21572417 -
GABRA5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27231709 -
GABRB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22037176 -
GABRQ Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26350204 -
GLRA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29057625 -
GPR50 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20657642 -
GRIN2B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21572417 -
Pervasive Development Disorder C0524528 DRD4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20731709 -