tendon xanthomatosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows). (Human Phenotype Ontology, HP_0010874)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010874
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Genes

3 genes associated with the tendon xanthomatosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
LDLRAP1 low density lipoprotein receptor adaptor protein 1
TTPA tocopherol (alpha) transfer protein