abnormal cns myelination Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of myelination of nerves in the central nervous system. (Human Phenotype Ontology, HP_0011400)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011400
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Genes

102 genes associated with the abnormal cns myelination 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
ACY1 aminoacylase 1
ADAR adenosine deaminase, RNA-specific
ADGRG1 adhesion G protein-coupled receptor G1
ADSL adenylosuccinate lyase
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ASPA aspartoacylase
BCAP31 B-cell receptor-associated protein 31
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BMP4 bone morphogenetic protein 4
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
CSF1R colony stimulating factor 1 receptor
CTC1 CTS telomere maintenance complex component 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DARS aspartyl-tRNA synthetase
EDNRB endothelin receptor type B
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
ERCC3 excision repair cross-complementation group 3
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
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
GAA glucosidase, alpha; acid
GALC galactosylceramidase
GDAP1 ganglioside induced differentiation associated protein 1
GFAP glial fibrillary acidic protein
GJC2 gap junction protein, gamma 2, 47kDa
GLUL glutamate-ammonia ligase
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HTRA1 HtrA serine peptidase 1
IDUA iduronidase, alpha-L-
L2HGDH L-2-hydroxyglutarate dehydrogenase
LMNB1 lamin B1
LRPPRC leucine-rich pentatricopeptide repeat containing
MAT1A methionine adenosyltransferase I, alpha
MCOLN1 mucolipin 1
MTTP microsomal triglyceride transfer protein
MUT methylmalonyl CoA mutase
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
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
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
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
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)
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)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NUBPL nucleotide binding protein-like
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDYN prodynorphin
PEX1 peroxisomal biogenesis factor 1
PEX13 peroxisomal biogenesis factor 13
PEX19 peroxisomal biogenesis factor 19
PEX7 peroxisomal biogenesis factor 7
PHGDH phosphoglycerate dehydrogenase
PLP1 proteolipid protein 1
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PSAP prosaposin
QARS glutaminyl-tRNA synthetase
RBM8A RNA binding motif protein 8A
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RNASEH2A ribonuclease H2, subunit A
RNASET2 ribonuclease T2
SAMHD1 SAM domain and HD domain 1
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SNIP1 Smad nuclear interacting protein 1
SOX10 SRY (sex determining region Y)-box 10
SPTAN1 spectrin, alpha, non-erythrocytic 1
STXBP1 syntaxin binding protein 1
SUMF1 sulfatase modifying factor 1
SURF1 surfeit 1
TUBB4A tubulin, beta 4A class IVa
UPB1 ureidopropionase, beta