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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 |
|---|---|---|---|
| 54578 | UGT1A6 | UDP glucuronosyltransferase family 1 member A6 | |
| 54579 | UGT1A5 | UDP glucuronosyltransferase family 1 member A5 | |
| 54600 | UGT1A9 | UDP glucuronosyltransferase family 1 member A9 | |
| 54657 | UGT1A4 | UDP glucuronosyltransferase family 1 member A4 | |
| 54658 | UGT1A1 | UDP glucuronosyltransferase family 1 member A1 | |
| 54659 | UGT1A3 | UDP glucuronosyltransferase family 1 member A3 | |
| 56886 | UGGT1 | UDP-glucose glycoprotein glucosyltransferase 1 | |
| 57511 | COG6 | component of oligomeric golgi complex 6 | |
| 64132 | XYLT2 | xylosyltransferase 2 | |
| 80270 | HSD3B7 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
| 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 |
|---|---|---|
| P19224 | UDP-glucuronosyltransferase 1-6 | |
| P19367 | Hexokinase-1 | |
| P21589 | 5'-nucleotidase | |
| P22309 | UDP-glucuronosyltransferase 1A1 | |
| P22310 | UDP-glucuronosyltransferase 1A4 | |
| P35503 | UDP-glucuronosyltransferase 1A3 | |
| P35504 | UDP-glucuronosyltransferase 1A5 | |
| P54646 | 5'-AMP-activated protein kinase catalytic subunit alpha-2 | |
| Q9H1B5 | Xylosyltransferase 2 | |
| Q9HAW7 | UDP-glucuronosyltransferase 1A7 |
- 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 |
