abnormal intestinal cholesterol absorption Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the ability of the body to take up cholesterol into the blood by absorption from the small intestine (Mammalian Phenotype Ontology, MP_0002645)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002645
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Genes

13 gene mutations causing the abnormal intestinal cholesterol absorption phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
CCKAR cholecystokinin A receptor
CD36 CD36 molecule (thrombospondin receptor)
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
MUC1 mucin 1, cell surface associated
NPC1L1 NPC1-like 1
NR0B2 nuclear receptor subfamily 0, group B, member 2
PNLIP pancreatic lipase
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2
SOAT2 sterol O-acyltransferase 2