cns hypomyelination Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. (Human Phenotype Ontology, HP_0003429)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003429
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Genes

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

Symbol Name
ADSL adenylosuccinate lyase
BCAP31 B-cell receptor-associated protein 31
DARS aspartyl-tRNA synthetase
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
GDAP1 ganglioside induced differentiation associated protein 1
GJC2 gap junction protein, gamma 2, 47kDa
GLUL glutamate-ammonia ligase
PEX13 peroxisomal biogenesis factor 13
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
QARS glutaminyl-tRNA synthetase
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
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
TUBB4A tubulin, beta 4A class IVa