intrahepatic cholestasis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Xref MGI. (Human Disease Ontology, DOID_1852)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001406
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Genes

10 genes associated with the intrahepatic cholestasis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
AKR1D1 aldo-keto reductase family 1, member D1
AMACR alpha-methylacyl-CoA racemase
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
SC5D sterol-C5-desaturase
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
TJP2 tight junction protein 2