Intellectual Disability Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
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Genes

53 genes associated with the Intellectual Disability phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ANKH ANKH inorganic pyrophosphate transport regulator
APOE apolipoprotein E
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ASTN2 astrotactin 2
AUTS2 autism susceptibility candidate 2
CC2D1A coiled-coil and C2 domain containing 1A
CC2D2A coiled-coil and C2 domain containing 2A
CEP89 centrosomal protein 89kDa
COMT catechol-O-methyltransferase
DEAF1 DEAF1 transcription factor
DHFR dihydrofolate reductase
DIO2 deiodinase, iodothyronine, type II
DLG2 discs, large homolog 2 (Drosophila)
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DPP6 dipeptidyl-peptidase 6
DRD4 dopamine receptor D4
EIF4A3 eukaryotic translation initiation factor 4A3
ESR2 estrogen receptor 2 (ER beta)
FOXP2 forkhead box P2
GRIN3A glutamate receptor, ionotropic, N-methyl-D-aspartate 3A
GRM7 glutamate receptor, metabotropic 7
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNJ3 potassium channel, inwardly rectifying subfamily J, member 3
KDM5C lysine (K)-specific demethylase 5C
MPP7 membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NRGN neurogranin (protein kinase C substrate, RC3)
NRXN1 neurexin 1
PIK3C3 phosphatidylinositol 3-kinase, catalytic subunit type 3
RNF213 ring finger protein 213
RNPS1 RNA binding protein S1, serine-rich domain
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SETBP1 SET binding protein 1
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMG6 SMG6 nonsense mediated mRNA decay factor
SNAP25 synaptosomal-associated protein, 25kDa
STXBP1 syntaxin binding protein 1
SYNGAP1 synaptic Ras GTPase activating protein 1
TRIO trio Rho guanine nucleotide exchange factor
UBE2A ubiquitin-conjugating enzyme E2A
UBE3A ubiquitin protein ligase E3A
UPF3A UPF3 regulator of nonsense transcripts homolog A (yeast)
VIP vasoactive intestinal peptide
ZFHX4 zinc finger homeobox 4
ZMYND11 zinc finger, MYND-type containing 11