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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 |
|---|---|---|---|
| 28 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | |
| 229 | ALDOB | aldolase, fructose-bisphosphate B | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 2026 | ENO2 | enolase 2 | |
| 2271 | FH | fumarate hydratase | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 3098 | HK1 | hexokinase 1 | |
| 4023 | LPL | lipoprotein lipase | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5230 | PGK1 | phosphoglycerate kinase 1 |
| 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 |
|---|---|---|
| Q9HAW8 | UDP-glucuronosyltransferase 1A10 | |
| Q9HAW9 | UDP-glucuronosyltransferase 1A8 | |
| Q9NRA2 | Sialin | |
| Q9NYU2 | UDP-glucose:glycoprotein glucosyltransferase 1 | |
| Q9Y2V7 | Conserved oligomeric Golgi complex subunit 6 |
- 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 |
