cns demyelination Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A loss of myelin from nerve fibers in the central nervous system. (Human Phenotype Ontology, HP_0007305)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007305
Similar Terms
Downloads & Tools

Genes

40 genes associated with the cns demyelination phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACOX1 acyl-CoA oxidase 1, palmitoyl
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ASPA aspartoacylase
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
CSF1R colony stimulating factor 1 receptor
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
FOXRED1 FAD-dependent oxidoreductase domain containing 1
GALC galactosylceramidase
GFAP glial fibrillary acidic protein
HTRA1 HtrA serine peptidase 1
L2HGDH L-2-hydroxyglutarate dehydrogenase
LRPPRC leucine-rich pentatricopeptide repeat containing
MAT1A methionine adenosyltransferase I, alpha
MTTP microsomal triglyceride transfer protein
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)
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDYN prodynorphin
PEX19 peroxisomal biogenesis factor 19
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PSAP prosaposin
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SUMF1 sulfatase modifying factor 1
SURF1 surfeit 1