Autism

Disease Term Disease ID Gene Symbol Classification References Source
AUTISM
MONDO:0005260EFO_0003758209850HP:0000717
CHD8 Causal
23160955
CTD
AMELY Unknown
32996047
GWAS catalog
AMPD1 Unknown
24189344
GWAS catalog
BCAS2 Unknown
24189344
GWAS catalog
BSX Unknown
30675382
GWAS catalog
CTU2 Unknown
25534755
GWAS catalog
CUEDC2 Unknown
25534755
GWAS catalog
DDX3Y Unknown
32996047
GWAS catalog
EIF1AY Unknown
32996047
GWAS catalog
ESRRG Unknown
30675382
GWAS catalog
EYA1 Unknown
22843504
GWAS catalog
KCTD12 Unknown
30675382
GWAS catalog
KDM5D Unknown
32996047
GWAS catalog
MACROD2 Unknown
20663923
GWAS catalog
NFIA Unknown
30675382
GWAS catalog
NRXN1 Unknown
27195815 30873608 28289584 22405623 23495017 30031152 25710691 30358070 31932357 36660026
GWAS catalog
NRXN2 Unknown — GenCC
NRXN3 Unknown
22209245
Orphanet
PARD3B Unknown
22843504
GWAS catalog
PDE8B Unknown
19812673
GWAS catalog
PPP2R5C Unknown
20663923
GWAS catalog
SHANK1 Unknown
34113010 34912368
Disgenet
SIK3 Unknown — GenCC
SNRPN Unknown — ClinVar HPO
SYNPR Unknown
30675382
GWAS catalog
TAF1C Unknown
22843504
GWAS catalog
TAS2R1 Unknown
19812673
GWAS catalog
TBL1Y Unknown
32996047
GWAS catalog
TBR1 Unknown
23160955 32005960 25232744 30268909
GWAS catalog
TENM2 Unknown
30675382
GWAS catalog
TRIM33 Unknown
24189344
GWAS catalog
UTY Unknown
32996047
GWAS catalog
ZNF713 Unknown
25196122
GWAS catalog
AUTISM EPILEPSY SYNDROME DUE TO BRANCHED CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY
C4749908
BCKDK Unknown — Disgenet
AUTISM SPECTRUM DISORDER
EFO_0003756MESH:D000067877MONDO:0005258
ARID1B Causal
35764056
GWAS catalog
AUTS2 Causal
35764056
GWAS catalog
BCL11B Causal
31835028
GWAS catalog
CHD2 Causal
28191889
CTD
CHD8 Causal
24998929 28191889 30670789
CTD
CIC Causal
28288114
CTD
CNTNAP2 Causal
20176116 21082657 21572417 21962519
CTD
DCC Causal
31835028 32606422 33479212 35764056
GWAS catalog
DIP2A Causal
28191889
CTD GenCC
DNMT3A Causal
25290267
CTD
GRIA1 Causal
28540026
GWAS catalog
GRIN2B Causal
21572417
CTD
KDM3B Causal
28540026 31835028
GWAS catalog
KMT2A Causal
23453885
GWAS catalog
MEF2C Causal
20412115 35764056
CTD GWAS catalog
NRXN1 Causal
18252227
CTD