UniProt | Protein Name |
---|---|
P51857 |
|
GO Term | Evidence Code | PMID |
---|---|---|
bile acid catabolic process | ||
bile acid biosynthetic process | ||
cholesterol catabolic process | ||
digestion | ||
androgen metabolic process |
GO Term | Evidence Code | PMID |
---|---|---|
delta4-3-oxosteroid 5beta-reductase activity | ||
alditol:NADP+ 1-oxidoreductase activity | ||
steroid binding |
|
|
aldo-keto reductase (NADP) activity |
|
|
ketosteroid monooxygenase activity |
DO ID | Disease Name | Source |
---|---|---|
DOID:0014667 | disease of metabolism | |
DOID:0050674 | congenital bile acid synthesis defect | |
DOID:0060262 | gallbladder disease | |
DOID:0111029 | hemochromatosis type 1 | |
DOID:0111069 | congenital bile acid synthesis defect 2 | |
DOID:10607 | tropical sprue | |
DOID:11476 | osteoporosis | |
DOID:11847 | coronary thrombosis | |
DOID:1247 | blood coagulation disease | |
DOID:12549 | hepatitis A |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000107 | Renal cyst |
HP:0000952 | Jaundice |
HP:0001396 | Cholestasis |
HP:0001397 | Hepatic steatosis |
HP:0001399 | Hepatic failure |
HP:0001406 | Intrahepatic cholestasis |
HP:0001508 | Failure to thrive |
HP:0001744 | Splenomegaly |
HP:0001978 | Extramedullary hematopoiesis |
Disease ID | Disease Name |
---|---|
ORPHA:79303 |
|
OMIM:235555 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
594997 | Xenbase:XB-GENE-947167 | ||
113453517 | PSETE00798 | ||
100547967 | MELGA00661 | ||
103819697 | SERCA15096 | ||
100076664 | ORNAN02621 | ||
100926677 | SARHA06797 | ||
100409275 | CALJA43790 | ||
105589641 | CERAT30688 | ||
102146771 | MACFA30446 | ||
709863 | MACMU31293 |
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Last updated: August 19, 2024