intellectual disability, severe Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. (Human Phenotype Ontology, HP_0010864)
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59 genes associated with the intellectual disability, severe phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACO2 aconitase 2, mitochondrial
ACOX1 acyl-CoA oxidase 1, palmitoyl
AP4B1 adaptor-related protein complex 4, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4M1 adaptor-related protein complex 4, mu 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9
ARX aristaless related homeobox
ATRX alpha thalassemia/mental retardation syndrome X-linked
CC2D1A coiled-coil and C2 domain containing 1A
CDKL5 cyclin-dependent kinase-like 5
CEP135 centrosomal protein 135kDa
CTSD cathepsin D
DMPK dystrophia myotonica-protein kinase
EHMT1 euchromatic histone-lysine N-methyltransferase 1
FOXG1 forkhead box G1
KDM5C lysine (K)-specific demethylase 5C
KIF7 kinesin family member 7
L2HGDH L-2-hydroxyglutarate dehydrogenase
LARP7 La ribonucleoprotein domain family, member 7
MECP2 methyl CpG binding protein 2
MEF2C myocyte enhancer factor 2C
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
NAGA N-acetylgalactosaminidase, alpha-
NDE1 nudE neurodevelopment protein 1
NIN ninein (GSK3B interacting protein)
NKX2-5 NK2 homeobox 5
NRXN1 neurexin 1
OFD1 oral-facial-digital syndrome 1
PEX1 peroxisomal biogenesis factor 1
PGAP2 post-GPI attachment to proteins 2
PHF6 PHD finger protein 6
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PNKP polynucleotide kinase 3'-phosphatase
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
ROGDI rogdi homolog (Drosophila)
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SNAP29 synaptosomal-associated protein, 29kDa
SOBP sine oculis binding protein homolog (Drosophila)
SPTAN1 spectrin, alpha, non-erythrocytic 1
SRD5A3 steroid 5 alpha-reductase 3
STXBP1 syntaxin binding protein 1
SUCLG1 succinate-CoA ligase, alpha subunit
TBC1D20 TBC1 domain family, member 20
TCF4 transcription factor 4
TMEM237 transmembrane protein 237
TSHB thyroid stimulating hormone, beta
TUBA1A tubulin, alpha 1a
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UROC1 urocanate hydratase 1
WDR81 WD repeat domain 81
ZNF592 zinc finger protein 592