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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Gilbert syndrome
Summary
- Synonym
-
- Constitutional hyperbilirubinemia
- Gilbert's disease
- Gilbert's syndrome
- Gilbert-Meulengracht syndrome
- hereditary nonhemolytic jaundice
- Definition
- A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.
- Super Class
- bilirubin metabolic disorder
External Links
- Disease Ontology
- DOID:2739
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 6403 | SELP | selectin P | |
| 6718 | AKR1D1 | aldo-keto reductase family 1 member D1 | |
| 7355 | SLC35A2 | solute carrier family 35 member A2 | |
| 7372 | UMPS | uridine monophosphate synthetase | |
| 23600 | AMACR | alpha-methylacyl-CoA racemase | |
| 26503 | SLC17A5 | solute carrier family 17 member 5 | |
| 54575 | UGT1A10 | UDP glucuronosyltransferase family 1 member A10 | |
| 54576 | UGT1A8 | UDP glucuronosyltransferase family 1 member A8 | |
| 54577 | UGT1A7 | UDP glucuronosyltransferase family 1 member A7 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 35105 | Ugt301D1 | UDP-glycosyltransferase family 301 member D1 | |
| 35137 | Ugt36F1 | UDP-glycosyltransferase family 36 member F1 | |
| 35138 | Ugt36D1 | UDP-glycosyltransferase family 36 member D1 | |
| 35139 | Ugt36E1 | UDP-glycosyltransferase family 36 member E1 | |
| 40079 | Ugt316A1 | UDP-glycosyltransferase family 316 member A1 | |
| 41334 | Ugt35A1 | UDP-glycosyltransferase family 35 member A1 | |
| 41574 | Ugt37A3 | UDP-glycosyltransferase family 37 member A3 | |
| 42538 | Ugt49B2 | UDP-glycosyltransferase family 49 member B2 | |
| 53501 | Ugt304A1 | UDP-glycosyltransferase family 304 member A1 | |
| 53502 | Ugt302K1 | UDP-glycosyltransferase family 302 member K1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60656 | UDP-glucuronosyltransferase 1A9 | |
| P00558 | Phosphoglycerate kinase 1 | |
| P05062 | Fructose-bisphosphate aldolase B | |
| P06858 | Lipoprotein lipase | |
| P07954 | Fumarate hydratase, mitochondrial | |
| P09104 | Gamma-enolase | |
| P11172 | Uridine 5'-monophosphate synthase | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P16109 | P-selectin | |
| P16442 | Histo-blood group ABO system transferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000952 | Jaundice |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0008282 | Unconjugated hyperbilirubinemia |
| HP:0001399 | Hepatic failure |
