leukodystrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A cerebral degeneration characterized by dysfunction of the white matter of the brain. (Human Disease Ontology, DOID_10579)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002415
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Genes

38 genes associated with the leukodystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABAT 4-aminobutyrate aminotransferase
ACOX1 acyl-CoA oxidase 1, palmitoyl
ADAR adenosine deaminase, RNA-specific
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
CTC1 CTS telomere maintenance complex component 1
EDNRB endothelin receptor type B
FA2H fatty acid 2-hydroxylase
FAM126A family with sequence similarity 126, member A
FBXL4 F-box and leucine-rich repeat protein 4
FOXRED1 FAD-dependent oxidoreductase domain containing 1
GJC2 gap junction protein, gamma 2, 47kDa
HSPD1 heat shock 60kDa protein 1 (chaperonin)
LMNB1 lamin B1
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
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)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NUBPL nucleotide binding protein-like
PEX1 peroxisomal biogenesis factor 1
PLP1 proteolipid protein 1
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
RNASEH2A ribonuclease H2, subunit A
SAMHD1 SAM domain and HD domain 1
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SOX10 SRY (sex determining region Y)-box 10
TUBB4A tubulin, beta 4A class IVa