sea-blue histiocytosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of macrophages, also known as histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. (Human Phenotype Ontology, HP_0001982)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001982
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Genes

4 genes associated with the sea-blue histiocytosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
GLB1 galactosidase, beta 1
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal