Profound Intellectual Disabilities Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C3161330
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Genes

112 genes associated with the disease Profound Intellectual Disabilities 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
ADAM22 ADAM metallopeptidase domain 22
ADAR adenosine deaminase, RNA-specific
AGTR2 angiotensin II receptor, type 2
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
ARV1 ARV1 homolog (S. cerevisiae)
ARX aristaless related homeobox
ASXL1 additional sex combs like transcriptional regulator 1
ASXL3 additional sex combs like transcriptional regulator 3
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CCDC88A coiled-coil domain containing 88A
CDKL5 cyclin-dependent kinase-like 5
CLCN4 chloride channel, voltage-sensitive 4
CLIC2 chloride intracellular channel 2
CNKSR2 connector enhancer of kinase suppressor of Ras 2
CNPY3 canopy FGF signaling regulator 3
DLG3 discs, large homolog 3 (Drosophila)
DMD dystrophin
DNM1L dynamin 1-like
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
ELOVL4 ELOVL fatty acid elongase 4
ERCC6 excision repair cross-complementation group 6
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FKRP fukutin related protein
FKTN fukutin
FRMPD4 FERM and PDZ domain containing 4
FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli)
GDI1 GDP dissociation inhibitor 1
GUF1 GUF1 GTPase homolog (S. cerevisiae)
HCFC1 host cell factor C1
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IDS iduronate 2-sulfatase
IER3IP1 immediate early response 3 interacting protein 1
IFIH1 interferon induced with helicase C domain 1
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IQSEC2 IQ motif and Sec7 domain 2
ISPD isoprenoid synthase domain containing
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KIAA2022 KIAA2022
KIF1A kinesin family member 1A
LARGE like-glycosyltransferase
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MID2 midline 2
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
NDE1 nudE neurodevelopment protein 1
NGLY1 N-glycanase 1
OCLN occludin
OFD1 oral-facial-digital syndrome 1
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PCDH12 protocadherin 12
PCDH19 protocadherin 19
PIGG phosphatidylinositol glycan anchor biosynthesis, class G
PIGP phosphatidylinositol glycan anchor biosynthesis, class P
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PTCHD1 patched domain containing 1
PUS3 pseudouridylate synthase 3
RAB18 RAB18, member RAS oncogene family
RAB39B RAB39B, member RAS oncogene family
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNASEH2C ribonuclease H2, subunit C
RNF113A ring finger protein 113A
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SAMHD1 SAM domain and HD domain 1
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SHROOM4 shroom family member 4
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC39A8 solute carrier family 39 (zinc transporter), member 8
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLC9A7 solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7
SMS spermine synthase
SPTAN1 spectrin, alpha, non-erythrocytic 1
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STEEP1 STING1 ER exit protein 1
STRA6 stimulated by retinoic acid 6
SYNJ1 synaptojanin 1
SYP synaptophysin
TBCD tubulin folding cofactor D
TREX1 three prime repair exonuclease 1
TSPAN7 tetraspanin 7
TUBA8 tubulin, alpha 8
UBTF upstream binding transcription factor, RNA polymerase I
UNC80 unc-80 homolog (C. elegans)
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
USP27X ubiquitin specific peptidase 27, X-linked
USP9X ubiquitin specific peptidase 9, X-linked
VARS valyl-tRNA synthetase
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
WDR45B WD repeat domain 45B
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZNF41 zinc finger protein 41
ZNF711 zinc finger protein 711
ZNF81 zinc finger protein 81
ZNHIT3 zinc finger, HIT-type containing 3