Moderate Intellectual Disability Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0026351
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Genes

243 genes associated with the disease Moderate Intellectual Disability in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACSL4 acyl-CoA synthetase long-chain family member 4
ADGRG1 adhesion G protein-coupled receptor G1
AFF2 AF4/FMR2 family, member 2
AGTR2 angiotensin II receptor, type 2
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALX4 ALX homeobox 4
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ANKRD11 ankyrin repeat domain 11
ANO6 anoctamin 6
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
APC adenomatous polyposis coli
ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
ARID1B AT rich interactive domain 1B (SWI1-like)
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ARX aristaless related homeobox
ASXL3 additional sex combs like transcriptional regulator 3
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
BDH1 3-hydroxybutyrate dehydrogenase, type 1
BICD2 bicaudal D homolog 2 (Drosophila)
BPTF bromodomain PHD finger transcription factor
BRSK2 BR serine/threonine kinase 2
BRWD3 bromodomain and WD repeat domain containing 3
C12ORF4 chromosome 12 open reading frame 4
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNG2 calcium channel, voltage-dependent, gamma subunit 2
CAMKMT calmodulin-lysine N-methyltransferase
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CC2D1A coiled-coil and C2 domain containing 1A
CC2D2A coiled-coil and C2 domain containing 2A
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast)
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CENPJ centromere protein J
CHD2 chromodomain helicase DNA binding protein 2
CIZ1 CDKN1A interacting zinc finger protein 1
CLCN4 chloride channel, voltage-sensitive 4
CLIP1 CAP-GLY domain containing linker protein 1
CLPB ClpB homolog, mitochondrial AAA ATPase chaperonin
CNKSR2 connector enhancer of kinase suppressor of Ras 2
CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2
COG1 component of oligomeric golgi complex 1
COG5 component of oligomeric golgi complex 5
COQ8A coenzyme Q8A
CRADD CASP2 and RIPK1 domain containing adaptor with death domain
CRBN cereblon
CUL4B cullin 4B
CWF19L1 CWF19-like 1, cell cycle control (S. pombe)
CYB5R3 cytochrome b5 reductase 3
DBX2 developing brain homeobox 2
DCHS1 dachsous cadherin-related 1
DCPS decapping enzyme, scavenger
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
DHX30 DEAH (Asp-Glu-Ala-His) box helicase 30
DLG3 discs, large homolog 3 (Drosophila)
DMD dystrophin
DMXL2 Dmx-like 2
DNM1 dynamin 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
EBP emopamil binding protein (sterol isomerase)
EDC3 enhancer of mRNA decapping 3
EGF epidermal growth factor
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
ERCC8 excision repair cross-complementation group 8
EZR ezrin
FAM126A family with sequence similarity 126, member A
FAT4 FAT atypical cadherin 4
FBXO11 F-box protein 11
FBXO31 F-box protein 31
FGF12 fibroblast growth factor 12
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIGNL1 fidgetin-like 1
FMN2 formin 2
FMR1 fragile X mental retardation 1
FOXG1 forkhead box G1
FRMPD4 FERM and PDZ domain containing 4
FRRS1L ferric-chelate reductase 1-like
FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli)
GDI1 GDP dissociation inhibitor 1
GH1 growth hormone 1
GLB1 galactosidase, beta 1
GLUD1 glutamate dehydrogenase 1
GRIA3 glutamate receptor, ionotropic, AMPA 3
GRIK2 glutamate receptor, ionotropic, kainate 2
GRIK4 glutamate receptor, ionotropic, kainate 4
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa
HCFC1 host cell factor C1
HDAC8 histone deacetylase 8
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
HNMT histamine N-methyltransferase
HOOK2 hook microtubule-tethering protein 2
HPRT1 hypoxanthine phosphoribosyltransferase 1
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IQSEC2 IQ motif and Sec7 domain 2
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KDM5B lysine (K)-specific demethylase 5B
KIF5A kinesin family member 5A
L1CAM L1 cell adhesion molecule
LAMA2 laminin, alpha 2
LINS lines homolog (Drosophila)
LMAN2L lectin, mannose-binding 2-like
MAN1B1 mannosidase, alpha, class 1B, member 1
MAPT microtubule-associated protein tau
MAST1 microtubule associated serine/threonine kinase 1
MBOAT7 membrane bound O-acyltransferase domain containing 7
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MED13 mediator complex subunit 13
MED13L mediator complex subunit 13-like
MED23 mediator complex subunit 23
MED25 mediator complex subunit 25
MEF2C myocyte enhancer factor 2C
METTL23 methyltransferase like 23
MID2 midline 2
MITF microphthalmia-associated transcription factor
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NAA15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit
NACC1 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
NBEA neurobeachin
NCAPD2 non-SMC condensin I complex, subunit D2
NCAPH non-SMC condensin I complex, subunit H
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NLGN4X neuroligin 4, X-linked
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PCDH19 protocadherin 19
PDE4D phosphodiesterase 4D, cAMP-specific
PGAP1 post-GPI attachment to proteins 1
PGAP2 post-GPI attachment to proteins 2
PGAP3 post-GPI attachment to proteins 3
PGM3 phosphoglucomutase 3
PIGC phosphatidylinositol glycan anchor biosynthesis, class C
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIGW phosphatidylinositol glycan anchor biosynthesis, class W
PIGY phosphatidylinositol glycan anchor biosynthesis, class Y
PMM2 phosphomannomutase 2
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POMT1 protein-O-mannosyltransferase 1
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PPP2R5D protein phosphatase 2, regulatory subunit B', delta
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PREPL prolyl endopeptidase-like
PRSS12 protease, serine, 12 (neurotrypsin, motopsin)
PSPH phosphoserine phosphatase
PTCHD1 patched domain containing 1
PTDSS1 phosphatidylserine synthase 1
PTH2R parathyroid hormone 2 receptor
PUF60 poly-U binding splicing factor 60KDa
PURA purine-rich element binding protein A
RAB39B RAB39B, member RAS oncogene family
RALA v-ral simian leukemia viral oncogene homolog A (ras related)
RBMX RNA binding motif protein, X-linked
RERE arginine-glutamic acid dipeptide (RE) repeats
RGMA repulsive guidance molecule family member a
RPGRIP1L RPGRIP1-like
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RSRC1 arginine/serine-rich coiled-coil 1
RTTN rotatin
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
SARS1 seryl-tRNA synthetase 1
SATB2 SATB homeobox 2
SCAPER S-phase cyclin A-associated protein in the ER
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SHANK2 SH3 and multiple ankyrin repeat domains 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC45A1 solute carrier family 45, member 1
SLC9A7 solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SNX14 sorting nexin 14
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
STAG2 stromal antigen 2
STEEP1 STING1 ER exit protein 1
STYXL1 serine/threonine/tyrosine interacting-like 1
SUV420H1 suppressor of variegation 4-20 homolog 1 (Drosophila)
SYN1 synapsin I
SYNGAP1 synaptic Ras GTPase activating protein 1
SYP synaptophysin
SYT1 synaptotagmin I
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TBC1D24 TBC1 domain family, member 24
TBCD tubulin folding cofactor D
TBR1 T-box, brain, 1
TBX1 T-box 1
TCF20 transcription factor 20 (AR1)
TCF4 transcription factor 4
TECR trans-2,3-enoyl-CoA reductase
TFRC transferrin receptor
TGM6 transglutaminase 6
THOC2 THO complex 2
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TNIK TRAF2 and NCK interacting kinase
TPP1 tripeptidyl peptidase I
TRAPPC9 trafficking protein particle complex 9
TRPV6 transient receptor potential cation channel, subfamily V, member 6
TSPAN7 tetraspanin 7
TTC8 tetratricopeptide repeat domain 8
TUBB tubulin, beta class I
TUBB3 tubulin, beta 3 class III
TUSC3 tumor suppressor candidate 3
TWIST1 twist family bHLH transcription factor 1
UBE2A ubiquitin-conjugating enzyme E2A
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
USP27X ubiquitin specific peptidase 27, X-linked
USP9X ubiquitin specific peptidase 9, X-linked
VCX3A variable charge, X-linked 3A
WARS2 tryptophanyl tRNA synthetase 2, mitochondrial
WASHC4 WASH complex subunit 4
WDFY3 WD repeat and FYVE domain containing 3
XYLT1 xylosyltransferase I
ZBTB18 zinc finger and BTB domain containing 18
ZC3H14 zinc finger CCCH-type containing 14
ZDHHC9 zinc finger, DHHC-type containing 9
ZIC1 Zic family member 1
ZMIZ1 zinc finger, MIZ-type containing 1
ZMYND11 zinc finger, MYND-type containing 11
ZNF41 zinc finger protein 41
ZNF711 zinc finger protein 711
ZNF81 zinc finger protein 81