abnormality of glycosphingolipid metabolism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of glycosphingolipid metabolism. (Human Phenotype Ontology, HP_0004343)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004343
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Genes

8 genes associated with the abnormality of glycosphingolipid metabolism phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
GBA glucosidase, beta, acid
GM2A GM2 ganglioside activator
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
HEXA hexosaminidase A (alpha polypeptide)
HEXB hexosaminidase B (beta polypeptide)
MCOLN1 mucolipin 1
PSAP prosaposin