Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY CIC Causal Disgenet Orphanet
CLTC Causal Disgenet GWAS catalog Orphanet
CSNK2B Causal Disgenet GWAS catalog Orphanet
DEAF1 Causal Disgenet GWAS catalog
GNB1 Causal Disgenet
GRIN2B Causal Disgenet Orphanet
JARID2 Causal Disgenet
KIF1A Causal Disgenet GWAS catalog
POLG Causal Disgenet
PPM1D Causal Disgenet
TRPM3 Causal Disgenet GWAS catalog Orphanet
ZNF292 Causal Disgenet
ARF3 Unknown Disgenet Orphanet
ASH1L Unknown ClinVar Disgenet Orphanet
BRSK2 Unknown Disgenet Orphanet
CACNA1I Unknown Disgenet Orphanet
CACNG2 Unknown CTD Disgenet Orphanet
CAMK2A Unknown CTD Disgenet Orphanet
CAMK2B Unknown Disgenet GWAS catalog Orphanet
CDH15 Unknown Disgenet GWAS catalog Orphanet
CHAMP1 Unknown Disgenet GWAS catalog
CTNND2 Unknown Disgenet Orphanet
CUX1 Unknown Disgenet GWAS catalog Orphanet
DLL1 Unknown ClinVar Disgenet Orphanet
DOCK8 Unknown Disgenet GWAS catalog Orphanet
DPYSL2 Unknown Disgenet Orphanet
DYNC1H1 Unknown Disgenet GWAS catalog Orphanet
EEF1A2 Unknown Disgenet GWAS catalog Orphanet
EPB41L1 Unknown Disgenet Orphanet
ERBB4 Unknown Disgenet Orphanet
GABBR1 Unknown Disgenet Orphanet
GRIA1 Unknown Disgenet Orphanet
GRIN1 Unknown Disgenet Orphanet
HIVEP2 Unknown CTD Disgenet Orphanet
ITSN1 Unknown Disgenet Orphanet
KCNQ2 Unknown Disgenet Orphanet
KCNQ5 Unknown Disgenet Orphanet
KDM5B Unknown Orphanet
KIRREL3 Unknown Disgenet Orphanet
MBD5 Unknown Disgenet GWAS catalog Orphanet
MED12L Unknown Disgenet GWAS catalog
NBEA Unknown Disgenet Orphanet
PPP3CA Unknown Disgenet GWAS catalog Orphanet
PRICKLE2 Unknown Disgenet Orphanet
RAB11A Unknown Disgenet Orphanet
SCN8A Unknown Disgenet Orphanet
SEMA6B Unknown Disgenet Orphanet
SET Unknown CTD Disgenet Orphanet
SETD1B Unknown Disgenet Orphanet
SLC6A1 Unknown Disgenet Orphanet