Nonsyndromic intellectual disability

Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY
C5680502MONDO:0015802178469
STXBP1 Unknown
26865513
Disgenet GWAS catalog
SYNGAP1 Unknown
23161826
Disgenet
TAOK1 Unknown
31230721
Disgenet Orphanet
TCF4 Unknown
22670824
Disgenet GWAS catalog Orphanet
YWHAZ Unknown
36001342
Disgenet Orphanet
ZMYND11 Unknown
25217958
CTD Disgenet
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY
88616C5680181MONDO:0019502
CC2D1A Causal
16033914
Disgenet HPO Orphanet
EEF1D Causal — Disgenet
EEFSEC Causal — Disgenet
LHFPL5 Causal — Disgenet
NSUN2 Causal
22541559 22541562
Disgenet GenCC Orphanet
TRAPPC9 Causal
20004763 20004765
Disgenet GWAS catalog Orphanet
ABCA2 Unknown
29302074
Disgenet Orphanet
AIMP1 Unknown
26173967
Disgenet GWAS catalog Orphanet
ALKBH8 Unknown
31079898
Disgenet Orphanet
ASCC3 Unknown — Disgenet
B3GALNT2 Unknown
29273094
Disgenet Orphanet
CASP2 Unknown — Disgenet
CEP104 Unknown
35359234
Disgenet Orphanet
CHKA Unknown
35202461
Disgenet Orphanet
CLIP1 Unknown
24569606
Disgenet HPO Orphanet
CRADD Unknown
22279524
Disgenet GWAS catalog Orphanet
CRBN Unknown
15557513
Disgenet Orphanet
DCPS Unknown
25701870
Disgenet Orphanet
EDC3 Unknown
25701870
Disgenet GWAS catalog Orphanet
EEF1B2 Unknown
35015920
Disgenet Orphanet
EZR Unknown
25504542
Disgenet Orphanet
FBXO31 Unknown
24623383
Disgenet GWAS catalog Orphanet
FERRY3 Unknown
27311568
Disgenet Orphanet
FMN2 Unknown
25480035
Disgenet Orphanet
FRRS1L Unknown
28675162
Disgenet Orphanet
GEMIN5 Unknown
33963192
Disgenet Orphanet
GRIA1 Unknown
35675825
Disgenet Orphanet
GRIK2 Unknown
17847003
Disgenet GWAS catalog Orphanet
GRIN1 Unknown
28051072
Disgenet Orphanet
GRM7 Unknown
27435318
Disgenet Orphanet
HNMT Unknown
26206890
Disgenet GWAS catalog Orphanet
IMPA1 Unknown
26416544
Disgenet Orphanet
IQSEC1 Unknown
31607425
Disgenet Orphanet
KDM5B Unknown
29276005
Disgenet GWAS catalog Orphanet
LINS1 Unknown
23773660
Disgenet GWAS catalog Orphanet
LMAN2L Unknown
26566883
Disgenet Orphanet
MAN1B1 Unknown
21763484
Disgenet GenCC Orphanet
MBOAT7 Unknown
27616480
CTD Disgenet Orphanet
MED23 Unknown
21868677
Disgenet GWAS catalog Orphanet
MED25 Unknown
25527630
CTD Disgenet Orphanet
METTL23 Unknown
24626631
Disgenet GWAS catalog Orphanet
MROH6 Unknown — Disgenet
NAA20 Unknown
34230638
Disgenet Orphanet
NCDN Unknown
33711248
Disgenet Orphanet