Mental Retardation Gene Set

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

91 genes associated with the Mental Retardation phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ACSL4 acyl-CoA synthetase long-chain family member 4
ADA adenosine deaminase
AHI1 Abelson helper integration site 1
APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2
BDNF brain-derived neurotrophic factor
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CBS cystathionine-beta-synthase
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CDKL5 cyclin-dependent kinase-like 5
CEP290 centrosomal protein 290kDa
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CNTN4 contactin 4
COMT catechol-O-methyltransferase
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
DIO2 deiodinase, iodothyronine, type II
DLG2 discs, large homolog 2 (Drosophila)
DLG3 discs, large homolog 3 (Drosophila)
DLGAP2 discs, large (Drosophila) homolog-associated protein 2
DMD dystrophin
DOC2A double C2-like domains, alpha
DPP10 dipeptidyl-peptidase 10 (non-functional)
DRD2 dopamine receptor D2
ERBB4 erb-b2 receptor tyrosine kinase 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FLRT3 fibronectin leucine rich transmembrane protein 3
FMR1 fragile X mental retardation 1
FRAXA fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)
FRAXE fragile site, folic acid type, rare, fra(X)(q28) E
GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2
GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRG1 gamma-aminobutyric acid (GABA) A receptor, gamma 1
GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3
GALT galactose-1-phosphate uridylyltransferase
GCH1 GTP cyclohydrolase 1
GDI1 GDP dissociation inhibitor 1
GRIA3 glutamate receptor, ionotropic, AMPA 3
GRIP1 glutamate receptor interacting protein 1
GRM7 glutamate receptor, metabotropic 7
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IL1RN interleukin 1 receptor antagonist
IL6 interleukin 6
MACROD2 MACRO domain containing 2
MAOA monoamine oxidase A
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPT microtubule-associated protein tau
MCPH1 microcephalin 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MFAP4 microfibrillar-associated protein 4
MT-TR tRNA
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
NF1 neurofibromin 1
NLGN1 neuroligin 1
NLGN4X neuroligin 4, X-linked
NPHP1 nephronophthisis 1 (juvenile)
NRG1 neuregulin 1
NRXN1 neurexin 1
NSD1 nuclear receptor binding SET domain protein 1
OMG oligodendrocyte myelin glycoprotein
POU1F1 POU class 1 homeobox 1
PRODH proline dehydrogenase (oxidase) 1
PTEN phosphatase and tensin homolog
PTK2 protein tyrosine kinase 2
PTS 6-pyruvoyltetrahydropterin synthase
RAB3A RAB3A, member RAS oncogene family
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
SCN1A sodium channel, voltage gated, type I alpha subunit
SHANK2 SH3 and multiple ankyrin repeat domains 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SNAP25 synaptosomal-associated protein, 25kDa
ST7 suppression of tumorigenicity 7
STX1A syntaxin 1A (brain)
STXBP1 syntaxin binding protein 1
SYNGAP1 synaptic Ras GTPase activating protein 1
SYT1 synaptotagmin I
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TP53 tumor protein p53
TRNE
TSPAN7 tetraspanin 7
VAMP2 vesicle-associated membrane protein 2 (synaptobrevin 2)
ZNF630 zinc finger protein 630