Intellectual Disability Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. (Human Disease Ontology, DOID_1059)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D008607
Similar Terms
Downloads & Tools

Genes

126 genes/proteins associated with the disease Intellectual Disability from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
SCN8A sodium channel, voltage gated, type VIII alpha subunit 2.88009
CA8 carbonic anhydrase VIII 2.88009
HEXA hexosaminidase A (alpha polypeptide) 2.88009
VRK1 vaccinia related kinase 1 2.88009
KDM6B lysine (K)-specific demethylase 6B 2.88009
MAN1B1 mannosidase, alpha, class 1B, member 1 2.88009
MEF2C myocyte enhancer factor 2C 2.88009
PAX6 paired box 6 2.88009
SCAPER S-phase cyclin A-associated protein in the ER 2.88009
CCBE1 collagen and calcium binding EGF domains 1 2.88009
ZBTB40 zinc finger and BTB domain containing 40 2.88009
NF1 neurofibromin 1 2.88009
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 2.88009
CASP2 caspase 2, apoptosis-related cysteine peptidase 2.88009
FGFR2 fibroblast growth factor receptor 2 2.88009
ASCC3 activating signal cointegrator 1 complex subunit 3 2.88009
CIC capicua transcriptional repressor 2.88009
SURF1 surfeit 1 2.88009
BDNF brain-derived neurotrophic factor 2.88009
KDM5A lysine (K)-specific demethylase 5A 2.88009
KDM5C lysine (K)-specific demethylase 5C 2.88009
NRXN1 neurexin 1 2.88009
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 2.88009
GNAS GNAS complex locus 2.88009
LARP7 La ribonucleoprotein domain family, member 7 2.88009
YY1 YY1 transcription factor 2.88009
CHL1 cell adhesion molecule L1-like 2.88009
ERLIN2 ER lipid raft associated 2 2.88009
FAM126A family with sequence similarity 126, member A 2.88009
MCC mutated in colorectal cancers 2.88009
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 2.88009
ADK adenosine kinase 2.88009
ZCCHC8 zinc finger, CCHC domain containing 8 2.88009
C12ORF57 chromosome 12 open reading frame 57 2.88009
TRMT1 tRNA methyltransferase 1 homolog (S. cerevisiae) 2.88009
L2HGDH L-2-hydroxyglutarate dehydrogenase 2.88009
PTCHD1 patched domain containing 1 2.88009
FRY furry homolog (Drosophila) 2.88009
SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 2.88009
LAMA1 laminin, alpha 1 2.88009
WDR62 WD repeat domain 62 2.88009
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 2.88009
TSEN2 TSEN2 tRNA splicing endonuclease subunit 2.88009
KIF1BP KIF1 binding protein 2.88009
LINS lines homolog (Drosophila) 2.88009
SYNGAP1 synaptic Ras GTPase activating protein 1 2.88009
PRKCG protein kinase C, gamma 2.88009
TMCO1 transmembrane and coiled-coil domains 1 2.88009
UROC1 urocanate hydratase 1 2.88009
FOLR1 folate receptor 1 (adult) 2.88009
MECP2 methyl CpG binding protein 2 2.88009
MED13L mediator complex subunit 13-like 2.88009
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha 2.88009
PTEN phosphatase and tensin homolog 2.88009
RALGDS ral guanine nucleotide dissociation stimulator 2.88009
SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10 2.88009
CAPN10 calpain 10 2.88009
PEX6 peroxisomal biogenesis factor 6 2.88009
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit 2.88009
VIP vasoactive intestinal peptide 2.88009
BBS7 Bardet-Biedl syndrome 7 2.88009
CALCA calcitonin-related polypeptide alpha 2.88009
ZNF526 zinc finger protein 526 2.88009
PECR peroxisomal trans-2-enoyl-CoA reductase 2.88009
AHI1 Abelson helper integration site 1 2.88009
PDHX pyruvate dehydrogenase complex, component X 2.88009
NTF4 neurotrophin 4 2.88009
TSEN54 TSEN54 tRNA splicing endonuclease subunit 2.88009
SLC31A1 solute carrier family 31 (copper transporter), member 1 2.88009
TMEM135 transmembrane protein 135 2.88009
COQ5 coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 2.88009
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 2.88009
GON4L gon-4-like (C. elegans) 2.88009
FASN fatty acid synthase 2.88009
HIST1H4B histone cluster 1, H4b 2.88009
SC5D sterol-C5-desaturase 2.88009
POLR3B polymerase (RNA) III (DNA directed) polypeptide B 2.88009
ALDH5A1 aldehyde dehydrogenase 5 family, member A1 2.88009
TH tyrosine hydroxylase 2.88009
DOCK8 dedicator of cytokinesis 8 2.88009
SRD5A3 steroid 5 alpha-reductase 3 2.88009
ADRA2B adrenoceptor alpha 2B 2.88009
INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa 2.88009
SHANK3 SH3 and multiple ankyrin repeat domains 3 2.88009
SHANK2 SH3 and multiple ankyrin repeat domains 2 2.88009
SETBP1 SET binding protein 1 2.88009
CCNA2 cyclin A2 2.88009
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2 2.88009
ELP2 elongator acetyltransferase complex subunit 2 2.88009
FMR1 fragile X mental retardation 1 2.88009
RGS7 regulator of G-protein signaling 7 2.88009
GAMT guanidinoacetate N-methyltransferase 2.88009
STRA6 stimulated by retinoic acid 6 2.88009
CNKSR1 connector enhancer of kinase suppressor of Ras 1 2.88009
TTI2 TELO2 interacting protein 2 2.88009
KIF7 kinesin family member 7 2.88009
HIST3H3 histone cluster 3, H3 2.88009
PARP1 poly (ADP-ribose) polymerase 1 2.88009
UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative) 2.88009
AP4M1 adaptor-related protein complex 4, mu 1 subunit 2.88009
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa 2.88009
LETM1 leucine zipper-EF-hand containing transmembrane protein 1 2.88009
FOXG1 forkhead box G1 2.88009
NAGLU N-acetylglucosaminidase, alpha 2.88009
ASCL1 achaete-scute family bHLH transcription factor 1 2.88009
EEF1B2 eukaryotic translation elongation factor 1 beta 2 2.88009
IQSEC2 IQ motif and Sec7 domain 2 2.88009
DEAF1 DEAF1 transcription factor 2.88009
CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family) 2.88009
TSEN34 TSEN34 tRNA splicing endonuclease subunit 2.88009
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit 2.88009
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator 2.88009
HDAC4 histone deacetylase 4 2.88009
COL18A1 collagen, type XVIII, alpha 1 2.88009
PMM2 phosphomannomutase 2 2.88009
APC adenomatous polyposis coli 2.88009
RAI1 retinoic acid induced 1 2.88009
ACBD6 acyl-CoA binding domain containing 6 2.88009
NSD1 nuclear receptor binding SET domain protein 1 2.88009
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 2.88009
RAB39B RAB39B, member RAS oncogene family 2.88009
WDR45B WD repeat domain 45B 2.88009
ARL14EP ADP-ribosylation factor-like 14 effector protein 2.88009
RABL6 RAB, member RAS oncogene family-like 6 2.88009
DISC1 disrupted in schizophrenia 1 2.88009
KANSL1 KAT8 regulatory NSL complex subunit 1 2.88009