abnormality of the glial cells Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the glia cell. (Human Phenotype Ontology, HP_0100705)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100705
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Genes

72 genes associated with the abnormality of the glial cells phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AP4M1 adaptor-related protein complex 4, mu 1 subunit
APC adenomatous polyposis coli
ARX aristaless related homeobox
ATXN3 ataxin 3
AVP arginine vasopressin
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BRAT1 BRCA1-associated ATM activator 1
C9ORF72 chromosome 9 open reading frame 72
CDKN2A cyclin-dependent kinase inhibitor 2A
CHEK2 checkpoint kinase 2
CHMP2B charged multivesicular body protein 2B
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
CSF1R colony stimulating factor 1 receptor
ERBB2 erb-b2 receptor tyrosine kinase 2
ERCC6 excision repair cross-complementation group 6
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FOXRED1 FAD-dependent oxidoreductase domain containing 1
GRN granulin
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HTT huntingtin
KCNT1 potassium channel, sodium activated subfamily T, member 1
L2HGDH L-2-hydroxyglutarate dehydrogenase
LMNB1 lamin B1
LRPPRC leucine-rich pentatricopeptide repeat containing
LRRK2 leucine-rich repeat kinase 2
MAPT microtubule-associated protein tau
MLH1 mutL homolog 1
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MSH2 mutS homolog 2
MSH6 mutS homolog 6
NBN nibrin
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
PARK2 parkin RBR E3 ubiquitin protein ligase
PAX2 paired box 2
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLP1 proteolipid protein 1
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLG polymerase (DNA directed), gamma
PRNP prion protein
PSEN1 presenilin 1
PTCH1 patched 1
RANBP2 RAN binding protein 2
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SURF1 surfeit 1
TBP TATA box binding protein
TFG TRK-fused gene
TREM2 triggering receptor expressed on myeloid cells 2
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TYROBP TYRO protein tyrosine kinase binding protein
VRK1 vaccinia related kinase 1
ZNF335 zinc finger protein 335