Disease Term Disease ID Gene Symbol References
Autism Spectrum Disorders C1510586 AVPR1A 20546835
BDNF 24781735
CA2 31209396
CDH10 28191889
CHD2 28191889
CIRBP 24781735
DHCR24 24781735
DIO2 24781735
DIO3 24781735
DLG4 20952458
DLX1 21302352
DNMT3A 25290267
DNMT3B 25290267
DPP6 18252227, 20844286
DPYD 20844286, 18252227
EN2 25290267
EPHX2 30890645
GABRA5 27231709
GABRB3 22037176
GLRA2 29057625
GRIN2B 21572417
GTF2I 22048961
HFE 20808228
ITGB3 21254450
JARID2 21308764
MEF2C 20412115, 30763456
MTNR1A 20657642
MTNR1B 20657642
NF1 30763456
NTSR1 24781735
OXTR 20832055
PAH 31209396
PCDH9 18252227
PHB 28533516
PPP2R5D
MAP2K1 30763456
RELN 24781735, 28191889
PTEN 30763456
RARB 31209396
RYR2 21151189
SBF1 30763456
SCN1A 21572417
SFSWAP 24781735
SLC1A1 31209396
SLC2A1
SLC16A2 24781735
SOX5 20808228
SOX9 20868653
TBL1X 22050706
TOP2B
TSC2 30763456
USH2A 31209396
CADPS 30804558
NEMF 28191889
GPR50 20657642
TRIP12 25294932
UBE4A
NRXN3 30076746
NRXN1 18252227
NRXN2 21424692, 29654904
LAMC3 21572417, 28191889
DEAF1 30763456
RAI1 20981775
IL1RAPL1 20479760
SHANK2 30763456
MYT1L 25294932
IQSEC2 30763456
POGZ
CIC 28288114
DIP2A 28191889
HEY1 20868653
SIN3A 27399968
CNTNAP2 21962519, 30763456, 21082657, 20176116, 21572417
FOXP1 21572417
ANKRD11 18252227
SNTG2 20808228
NLGN3
LRRN3 20678249
FEV 31209396
NSUN2 31209396
GABRQ 26350204
NLGN4X 18252227
TSHZ3 27668656
DPP10 18252227
CHD8 22083958, 24998929, 26789910, 22495309, 28191889, 27824329, 27602517, 30670789
ROGDI 31209396
DIPK2B 21283809, 21264219
EHMT1 27651234
TET1 25290267
DDHD1 31209396
CTTNBP2 28191889
RNF135 30763456
SHANK3 18252227, 25356970, 30763456, 17173049
CEP41 21438139
IQGAP3 28191889
PTCHD1 20844286, 18252227
UPP2 21151189
TET3 25290267
DIPK2A 21283809
HEPACAM 30763456
UNC80 28191889
LRRTM3 20678249
MIR486-1 20868653
Autism spectrum disorder due to AUTS2 deficiency 352490 AUTS2
Pervasive Development Disorder C0524528 DRD4 20731709
MECP2 22231481
MRTFB 20442744