Profound Mental Retardation Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0020796
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Genes

159 genes associated with the disease Profound Mental Retardation in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACBD6 acyl-CoA binding domain containing 6
ADK adenosine kinase
ADRA2B adrenoceptor alpha 2B
AGTR2 angiotensin II receptor, type 2
AHI1 Abelson helper integration site 1
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
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
APC adenomatous polyposis coli
ARL14EP ADP-ribosylation factor-like 14 effector protein
ASCC3 activating signal cointegrator 1 complex subunit 3
ASCL1 achaete-scute family bHLH transcription factor 1
BBS7 Bardet-Biedl syndrome 7
BDNF brain-derived neurotrophic factor
BHLHE23 basic helix-loop-helix family, member e23
C12ORF57 chromosome 12 open reading frame 57
CA8 carbonic anhydrase VIII
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CALCA calcitonin-related polypeptide alpha
CAPN10 calpain 10
CASP2 caspase 2, apoptosis-related cysteine peptidase
CCBE1 collagen and calcium binding EGF domains 1
CCNA2 cyclin A2
CD38 CD38 molecule
CDKL5 cyclin-dependent kinase-like 5
CHD8 chromodomain helicase DNA binding protein 8
CHL1 cell adhesion molecule L1-like
CIC capicua transcriptional repressor
CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family)
CNKSR1 connector enhancer of kinase suppressor of Ras 1
COL18A1 collagen, type XVIII, alpha 1
COQ5 coenzyme Q5 homolog, methyltransferase (S. cerevisiae)
DCC DCC netrin 1 receptor
DEAF1 DEAF1 transcription factor
DISC1 disrupted in schizophrenia 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DOCK8 dedicator of cytokinesis 8
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EEF1B2 eukaryotic translation elongation factor 1 beta 2
ELP2 elongator acetyltransferase complex subunit 2
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
ERLIN2 ER lipid raft associated 2
EZR ezrin
FAM126A family with sequence similarity 126, member A
FASN fatty acid synthase
FGFR2 fibroblast growth factor receptor 2
FMR1 fragile X mental retardation 1
FOLR1 folate receptor 1 (adult)
FOXG1 forkhead box G1
FRY furry homolog (Drosophila)
GAMT guanidinoacetate N-methyltransferase
GNAS GNAS complex locus
GON4L gon-4-like (C. elegans)
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
HDAC4 histone deacetylase 4
HEXA hexosaminidase A (alpha polypeptide)
HIST1H4B histone cluster 1, H4b
HIST1H4C histone cluster 1, H4c
HIST3H3 histone cluster 3, H3
INPP4A inositol polyphosphate-4-phosphatase, type I, 107kDa
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KDM5A lysine (K)-specific demethylase 5A
KDM5C lysine (K)-specific demethylase 5C
KDM6B lysine (K)-specific demethylase 6B
KIF7 kinesin family member 7
KIFBP kinesin family binding protein
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMA1 laminin, alpha 1
LARP7 La ribonucleoprotein domain family, member 7
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LINS lines homolog (Drosophila)
MAN1B1 mannosidase, alpha, class 1B, member 1
MCC mutated in colorectal cancers
MECP2 methyl CpG binding protein 2
MED13L mediator complex subunit 13-like
MEF2C myocyte enhancer factor 2C
METTL23 methyltransferase like 23
MFSD2A major facilitator superfamily domain containing 2A
NAA15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit
NAGLU N-acetylglucosaminidase, alpha
NALCN sodium leak channel, non selective
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NF1 neurofibromin 1
NRXN1 neurexin 1
NRXN3 neurexin 3
NSD1 nuclear receptor binding SET domain protein 1
NTF4 neurotrophin 4
NTNG2 netrin G2
PARP1 poly (ADP-ribose) polymerase 1
PAX6 paired box 6
PDHX pyruvate dehydrogenase complex, component X
PECR peroxisomal trans-2-enoyl-CoA reductase
PEX6 peroxisomal biogenesis factor 6
PHIP pleckstrin homology domain interacting protein
PLEKHG2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2
PMM2 phosphomannomutase 2
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
PRKCG protein kinase C, gamma
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRRT2 proline-rich transmembrane protein 2
PTCH1 patched 1
PTCHD1 patched domain containing 1
PTEN phosphatase and tensin homolog
RAB39B RAB39B, member RAS oncogene family
RAB40AL RAB40A, member RAS oncogene family-like
RAB40C RAB40C, member RAS oncogene family
RABL6 RAB, member RAS oncogene family-like 6
RAI1 retinoic acid induced 1
RALGDS ral guanine nucleotide dissociation stimulator
RGS7 regulator of G-protein signaling 7
RNF113A ring finger protein 113A
SC5D sterol-C5-desaturase
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
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SETBP1 SET binding protein 1
SHANK1 SH3 and multiple ankyrin repeat domains 1
SHANK2 SH3 and multiple ankyrin repeat domains 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIN3A SIN3 transcription regulator family member A
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC31A1 solute carrier family 31 (copper transporter), member 1
SLC4A10 solute carrier family 4, sodium bicarbonate transporter, member 10
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX14 sorting nexin 14
SRD5A3 steroid 5 alpha-reductase 3
SRGAP3 SLIT-ROBO Rho GTPase activating protein 3
STAG1 stromal antigen 1
STRA6 stimulated by retinoic acid 6
SURF1 surfeit 1
SYNGAP1 synaptic Ras GTPase activating protein 1
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
TBCD tubulin folding cofactor D
TH tyrosine hydroxylase
TMCO1 transmembrane and coiled-coil domains 1
TMEM135 transmembrane protein 135
TRMT1 tRNA methyltransferase 1 homolog (S. cerevisiae)
TSEN2 TSEN2 tRNA splicing endonuclease subunit
TSEN34 TSEN34 tRNA splicing endonuclease subunit
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TTI2 TELO2 interacting protein 2
TUBB3 tubulin, beta 3 class III
UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative)
UROC1 urocanate hydratase 1
VIP vasoactive intestinal peptide
VRK1 vaccinia related kinase 1
WASF1 WAS protein family, member 1
WDR45B WD repeat domain 45B
WDR62 WD repeat domain 62
YY1 YY1 transcription factor
ZBTB40 zinc finger and BTB domain containing 40
ZCCHC8 zinc finger, CCHC domain containing 8
ZMYM2 zinc finger, MYM-type 2
ZNF526 zinc finger protein 526