bone-marrow foam cells Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance. (Human Phenotype Ontology, HP_0004333)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004333
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Genes

5 genes associated with the bone-marrow foam cells phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
LIPA lipase A, lysosomal acid, cholesterol esterase
NEU1 sialidase 1 (lysosomal sialidase)
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal