abnormal bile salt level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomalous concentration of the steroid salts derived from cholesterol in the liver, produced as bile acids and secreted in the biliary system as bile salts; these play an important role in the digestion and absorption of fats (Mammalian Phenotype Ontology, MP_0004774)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004774
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Genes

24 gene mutations causing the abnormal bile salt level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
CD4 CD4 molecule
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1
FABP6 fatty acid binding protein 6, ileal
GCGR glucagon receptor
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IFT88 intraflagellar transport 88
MBOAT4 membrane bound O-acyltransferase domain containing 4
MIR122 microRNA 122
NR0B2 nuclear receptor subfamily 0, group B, member 2
NR1H4 nuclear receptor subfamily 1, group H, member 4
NR5A2 nuclear receptor subfamily 5, group A, member 2
PCSK9 proprotein convertase subtilisin/kexin type 9
PCTP phosphatidylcholine transfer protein
SCP2 sterol carrier protein 2
SIK3 SIK family kinase 3
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1
SLC51A solute carrier family 51, alpha subunit
STARD10 StAR-related lipid transfer (START) domain containing 10
TLR4 toll-like receptor 4
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