skin nodule Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. (Human Phenotype Ontology, HP_0200036)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0200036
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Genes

14 genes associated with the skin nodule phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ANTXR2 anthrax toxin receptor 2
APOB apolipoprotein B
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
EPHX2 epoxide hydrolase 2, cytoplasmic
LDLR low density lipoprotein receptor
LPL lipoprotein lipase
MMP2 matrix metallopeptidase 2
NME1 NME/NM23 nucleoside diphosphate kinase 1
OCRL oculocerebrorenal syndrome of Lowe
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTPA tocopherol (alpha) transfer protein
Funding