Intrahepatic Cholestasis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Xref MGI. (Human Disease Ontology, DOID_1852)
External Link https://www.disgenet.org/browser/0/1/0/C0008372
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Genes

54 genes associated with the disease Intrahepatic Cholestasis in GWAS and other genetic association datasets from the DisGeNET 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
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
AGER advanced glycosylation end product-specific receptor
AHR aryl hydrocarbon receptor
AKR1D1 aldo-keto reductase family 1, member D1
AMACR alpha-methylacyl-CoA racemase
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
ARC activity-regulated cytoskeleton-associated protein
ATP11C ATPase, class VI, type 11C
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
CDC50A cell division cycle 50 P4-ATPase accessory subunit A
CXCL2 chemokine (C-X-C motif) ligand 2
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
EGR1 early growth response 1
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
FGF19 fibroblast growth factor 19
GGTLC1 gamma-glutamyltransferase light chain 1
GPD2 glycerol-3-phosphate dehydrogenase 2 (mitochondrial)
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
JAG1 jagged 1
LOC102724197 inactive gamma-glutamyltranspeptidase 2-like
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MAFG v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog G
MTM1 myotubularin 1
MYO5B myosin VB
NR0B2 nuclear receptor subfamily 0, group B, member 2
NR1H4 nuclear receptor subfamily 1, group H, member 4
NR1I2 nuclear receptor subfamily 1, group I, member 2
NR1I3 nuclear receptor subfamily 1, group I, member 3
PDZK1 PDZ domain containing 1
PPARA peroxisome proliferator-activated receptor alpha
PPARG peroxisome proliferator-activated receptor gamma
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
SC5D sterol-C5-desaturase
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SHBG sex hormone-binding globulin
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2
SLC22A1 solute carrier family 22 (organic cation transporter), member 1
SLC22A2 solute carrier family 22 (organic cation transporter), member 2
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TEK TEK tyrosine kinase, endothelial
TJP2 tight junction protein 2
TMPRSS6 transmembrane protease, serine 6
UTP4 UTP4 small subunit processome component
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
XPR1 xenotropic and polytropic retrovirus receptor 1