Intellectual developmental disorder

Disease Term Disease ID Gene Symbol Classification References Source
INTELLECTUAL DISABILITY
C3714756MESH:D008607MONDO:0001071
PHF8 Causal — Disgenet
PHIP Causal
28191889
CTD Disgenet
PIDD1 Causal — Disgenet
PIK3R2 Causal — Disgenet
PLAG1 Causal — Disgenet
PLP1 Causal — Disgenet
PMM2 Causal
21937992
CTD Disgenet
PNKP Causal — Disgenet
POGZ Causal — Disgenet
POLD1 Causal — Disgenet
POLG Causal — Disgenet
POMT2 Causal — Disgenet
POU3F3 Causal — Disgenet
PPP3CA Causal — Disgenet
PQBP1 Causal — Disgenet
PRR12 Causal — Disgenet
PSMD12 Causal — Disgenet
PTCHD1 Causal
20844286
CTD Disgenet
PTEN Causal
11496368 14574156 17427195 18759867 19265751
CTD Disgenet
PTPN11 Causal — Disgenet
PTPN4 Causal — Disgenet
PURA Causal — Disgenet
QRICH1 Causal — Disgenet
RAC3 Causal — Disgenet
RAI1 Causal
19752160
CTD Disgenet
RALA Causal — Disgenet
RALGAPB Causal — Disgenet
RBFOX1 Causal — Disgenet
RDH14 Causal — Disgenet
RPS6KA3 Causal — Disgenet
SAMD9L Causal — Disgenet
SATB2 Causal — Disgenet
SBDS Causal — Disgenet
SCAF4 Causal — Disgenet
SCN1A Causal
28191889
CTD Disgenet
SCN2A Causal
30062040
Disgenet
SCN8A Causal
16236810
CTD Disgenet
SEMA6B Causal
32169168 35604360
Disgenet HPO
SET Causal
20800572 21515671 25356899 28263302 28966118 29688601 29749127 29907757 31238879 33287870
ClinGen Disgenet GWAS catalog
SETBP1 Causal
20436468 25217958
CTD Disgenet
SETD1A Causal — Disgenet
SETD2 Causal — Disgenet
SETD5 Causal — Disgenet
SGSH Causal — Disgenet
SHANK1 Causal — Disgenet
SHANK2 Causal
20473310
CTD Disgenet
SHANK3 Causal
16284256
CTD Disgenet
SIN3A Causal
27399968
CTD
SKI Causal — Disgenet
SLC16A2 Causal — Disgenet