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:13250 | diarrhea | |
DOID:13515 | tuberous sclerosis | |
DOID:13580 | cholestasis | |
DOID:14323 | Marfan syndrome | |
DOID:1837 | diabetic ketoacidosis | |
DOID:1852 | intrahepatic cholestasis | |
DOID:2214 | obsolete inherited blood coagulation disease | |
DOID:2237 | hepatitis | |
DOID:2351 | iron metabolism disease | |
DOID:2352 | hemochromatosis |
HPO ID | HPO Term |
---|---|
HP:0003623 | Neonatal onset |
HP:0003645 | Prolonged partial thromboplastin time |
HP:0006579 | Prolonged neonatal jaundice |
HP:0008151 | Prolonged prothrombin time |
HP:0008897 | Postnatal growth retardation |
HP:0011040 | Abnormal intrahepatic bile duct morphology |
HP:0012379 | Abnormal circulating enzyme concentration or activity |
HP:0100513 | Decreased circulating vitamin E concentration |
HP:0200084 | Giant cell hepatitis |
Disease ID | Disease Name |
---|---|
ORPHA:79303 |
|
OMIM:235555 |
|
Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
---|---|---|---|
114605306 | PODMU33959 | ||
111573167 | AMPOC04444 | ||
106829989 | EQUAS13299 | ||
109529813 | HIPCM11285 | ||
105291623 | PTEVA06756 | ||
115036671 | ECHNA42701 | ||
115391701 | SALFA28788 | ||
103380315 | CYNSE25787 | ||
103382893 | CYNSE29038 | ||
103382913 | CYNSE29038 |
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GlyCosmos Portal v4.0.0
Last updated: August 19, 2024