cerebral hypomyelination Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system. (Human Phenotype Ontology, HP_0006808)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006808
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Genes

11 genes associated with the cerebral hypomyelination phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADSL adenylosuccinate lyase
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
GJC2 gap junction protein, gamma 2, 47kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
SOX10 SRY (sex determining region Y)-box 10
STXBP1 syntaxin binding protein 1
TUBB4A tubulin, beta 4A class IVa