MCID: GLB001
MIFTS: 55

Gilbert Syndrome malady

Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases categories

Aliases & Classifications for Gilbert Syndrome

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Gilbert Syndrome, Aliases & Descriptions:

Name: Gilbert Syndrome 9 41 21 11 45
Gilbert's Syndrome 9 20 21
Gilbert's Disease 9 41 21
Gilberts Syndrome 43 22
Gilbert Disease 21 60
Unconjugated Benign Bilirubinemia 21
Constitutional Hyperbilirubinemia 9
Constitutional Liver Dysfunction 21
Hereditary Nonhemolytic Jaundice 9
 
Familial Nonhemolytic Jaundice 21
Hyperbilirubinemia Arias Type 41
Gilbert-Meulengracht Syndrome 9
Gilbert-Lereboullet Syndrome 21
Hyperbilirubinemia Type 1 41
Meulengracht Syndrome 21
Hyperbilirubinemia 1 21
Cholemia, Familial 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Liver diseases


External Ids:

Disease Ontology9 DOID:2739
NCIt38 C84729
MeSH33 D005878
OMIM45 143500
ICD1025 E80.4

Summaries for Gilbert Syndrome

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OMIM:45 The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated... (143500) more...

MalaCards based summary: Gilbert Syndrome, also known as gilbert's syndrome, is related to hereditary spherocytosis and kernicterus, and has symptoms including autosomal recessive inheritance, jaundice and unconjugated hyperbilirubinemia. An important gene associated with Gilbert Syndrome is UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1), and among its related pathways are Statin Pathway - Generalized, Pharmacokinetics and Fatty acid, triacylglycerol, and ketone body metabolism. The compounds glucuronide and Deoxycholic acid 3-glucuronide have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and eye.

Disease Ontology:9 A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.

NIH Rare Diseases:41 Gilbert syndrome is a common, mild liver disorder in which the liver doesn't properly process bilirubin, a substance produced by the breakdown of red blood cells. gilbert syndrome typically doesn't require treatment or pose serious complications. in fact, gilbert syndrome is usually not considered a disease because of its benign nature. many individuals find out they have the disorder by accident, when they have a blood test that shows elevated bilirubin levels. more males than females have been diagnosed with gilbert syndrome. this condition is caused by mutations in the ugt1a1 gene and is inherited in an autosomal recessive pattern. last updated: 5/2/2011

Genetics Home Reference:21 Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin, which has an orange-yellow tint, is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Gilbert syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). In affected individuals, bilirubin levels fluctuate and very rarely increase to levels that cause jaundice, which is yellowing of the skin and whites of the eyes.

Wikipedia:63 Gilbert\'s syndrome (/?i?l?b??r/ zheel-BAIR), often shortened to GS, also called Gilbert?Meulengracht... more...

Related Diseases for Gilbert Syndrome

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Graphical network of the top 20 diseases related to Gilbert Syndrome:



Diseases related to gilbert syndrome

Symptoms for Gilbert Syndrome

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Symptoms by clinical synopsis from OMIM:

143500

Clinical features from OMIM:

143500

HPO human phenotypes related to Gilbert Syndrome:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 jaundice HP:0000952
3 unconjugated hyperbilirubinemia HP:0008282

Drugs & Therapeutics for Gilbert Syndrome

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Drug clinical trials:

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Genetic Tests for Gilbert Syndrome

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Genetic tests related to Gilbert Syndrome:

id Genetic test Affiliating Genes
1 Gilbert Syndrome20 UGT1A1
2 Gilbert's Syndrome22

Anatomical Context for Gilbert Syndrome

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MalaCards organs/tissues related to Gilbert Syndrome:

31
Liver, Testes, Eye, Skin, Heart, Breast, Endothelial

Animal Models for Gilbert Syndrome or affiliated genes

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Publications for Gilbert Syndrome

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Articles related to Gilbert Syndrome:

(show top 50)    (show all 81)
idTitleAuthorsYear
1
Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening. (25855413)
2015
2
Patterns and genetic polymorphisms in unconjugated hyperbilirubinemia (gilbert syndrome). (25646240)
2015
3
Relation between Neonatal Icter and Gilbert Syndrome in Gloucose-6-Phosphate Dehydrogenase Deficient Subjects. (24783083)
2014
4
Pregnancy with gilbert syndrome - a case report. (25121033)
2014
5
Role of co-inherited Gilbert syndrome on hyperbilirubinemia in Indian beta thalassemia patients. (24620945)
2014
6
Coexistence of gilbert syndrome and hereditary spherocytosis in a child presenting with extreme jaundice. (25587528)
2014
7
Gilbert syndrome. (22160004)
2012
8
Coexistence of Gilbert syndrome with hereditary haemolytic anaemias. (22554963)
2012
9
Gilbert syndrome redefined: a complex genetic haplotype influences the regulation of glucuronidation. (22213127)
2012
10
Gilbert syndrome increasing unconjugated hyperbilirubinemia in a child with hereditary spherocytosis. (22134611)
2012
11
Association of a glucose-6-phosphate deficiency and a Gilbert syndrome as risk factors for a severe choledocholithiasis in a 2-month-old male infant. (21793186)
2012
12
Hyperbilirubinemia, augmentation of endothelial function, and decrease in oxidative stress in Gilbert syndrome. (22773454)
2012
13
Diagnosis and treatment difficulties in 18-year-old male patient with hereditary hemochromatosis, chronic hepatitis B, Gilbert syndrome and ulcerative colitis. (21633730)
2011
14
Is Gilbert syndrome a new risk factor for breast cancer? (21636218)
2011
15
Gilbert syndrome in Iran, Fars Province. (20103965)
2010
16
Combined effect of regulatory polymorphisms on transcription of UGT1A1 as a cause of Gilbert syndrome. (20529348)
2010
17
Gilbert syndrome as a predisposing factor for cholelithiasis risk in the Greek adult population. (19309288)
2009
18
''Iatrogenic Gilbert syndrome''--a strategy for reducing vascular and cancer risk by increasing plasma unconjugated bilirubin. (17825497)
2007
19
Relationship between Gilbert syndrome and prevalence of vascular complications in patients with diabetes. (17895455)
2007
20
Gilbert syndrome presenting in a young boy, confirmed by the rifampin test. (17877076)
2007
21
Coinheritance of Gilbert syndrome-associated UGT1A1 mutation increases gallstone risk in cystic fibrosis. (16557566)
2006
22
Linkage between A(TA)7TAA and -3279T>G mutations in UGT1A1 is not essential for pathogenesis of Gilbert syndrome. (17105600)
2006
23
Gilbert syndrome and the development of antiretroviral therapy-associated hyperbilirubinemia: genetic screening is unnecessary. (16652295)
2006
24
Decreased levels of advanced glycation end-products in patients with Gilbert syndrome. (16309589)
2005
25
The polymorphism c.-3279T>G in the phenobarbital-responsive enhancer module of the bilirubin UDP-glucuronosyltransferase gene is associated with Gilbert syndrome. (16244305)
2005
26
Use of fully denaturing HPLC for UGT1A1 genotyping in Gilbert syndrome. (16244298)
2005
27
Increased prevalence of cholelithiasis in Gaucher disease: association with splenectomy but not with gilbert syndrome. (15232362)
2004
28
Simultaneous presence of Gilbert syndrome and hereditary spherocytosis: interaction in the pathogenesis of hyperbilirubinemia and gallstone formation. (14631626)
2003
29
Glucose-6-phosphate dehydrogenase deficiency, neonatal hyperbilirubinemia and Gilbert syndrome]. (12680285)
2002
30
TATA-Box polymorphism in the uridine diphosphate glucuronosyl transferase gene in Portuguese patients with clinical diagnosis of Gilbert Syndrome. (11940506)
2002
31
Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome. (12064902)
2002
32
Gilbert syndrome and ischemic heart disease: a protective effect of elevated bilirubin levels. (11849670)
2002
33
Re: unusual early presentation of Gilbert syndrome in pediatric recipients of liver transplantation. (11345189)
2001
34
Gilbert syndrome revealed during chemotherapy. (11241448)
2001
35
Hyperbilirubinaemia, glucose-6-phosphate dehydrogenase deficiency and Gilbert syndrome. (11277384)
2001
36
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype. (11013440)
2000
37
Unusual early presentation of Gilbert syndrome in pediatric recipients of liver transplantation. (10997365)
2000
38
Gilbert syndrome: analysis of the promoter region of the uridine diphosphate-glucuronosyltransferase 1 gene in the Greek population. (11079211)
2000
39
Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. (10498597)
1999
40
Jaundice with hypertrophic pyloric stenosis as an early manifestation of Gilbert syndrome. (10490432)
1999
41
Contribution of the TATA-box genotype (Gilbert syndrome) to serum bilirubin concentrations in the Italian population. (10352000)
1999
42
Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene. (9627603)
1998
43
Benign congenital jaundice (hyperbilirubinemia): a case of Gilbert syndrome. (9592443)
1998
44
Gilbert syndrome. (8716954)
1996
45
Asymptomatic unconjugated hyperbilirubinemia (Gilbert syndrome) among Saudis in Jeddah. (17590625)
1995
46
Jaundice with hypertrophic pyloric stenosis: a possible manifestation of Gilbert syndrome. (2348286)
1990
47
Jaundice with hypertrophic pyloric stenosis: a possible early manifestation of Gilbert syndrome. (2738801)
1989
48
Kinetics of oxazepam and lorazepam in two subjects with Gilbert syndrome. (6120963)
1981
49
Identifying the gilbert syndrome. (18748488)
1979
50
Marked hyperbilirubinemia with Gilbert syndrome and immunohemolytic anemia. (712491)
1978

Variations for Gilbert Syndrome

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Clinvar genetic disease variations for Gilbert Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000463.2(UGT1A1): c.1021C> T (p.Arg341Ter)single nucleotide variantPathogenicrs72551349GRCh37Chr 2, 234676519: 234676519
2NM_000463.2(UGT1A1): c.686C> A (p.Pro229Gln)single nucleotide variantPathogenicrs35350960GRCh37Chr 2, 234669619: 234669619
3UGT1A1*28duplicationPathogenicrs34983651GRCh37Chr 2, 234668880: 234668893
4NM_000463.2(UGT1A1): c.211G> A (p.Gly71Arg)single nucleotide variantPathogenicrs4148323GRCh37Chr 2, 234669144: 234669144
5NM_000463.2(UGT1A1): c.1198A> G (p.Asn400Asp)single nucleotide variantPathogenicrs28934877GRCh37Chr 2, 234676979: 234676979

Expression for genes affiliated with Gilbert Syndrome

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Search GEO for disease gene expression data for Gilbert Syndrome.

Pathways for genes affiliated with Gilbert Syndrome

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Pathways related to Gilbert Syndrome according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0UGT1A9, UGT1A1
2
Show member pathways
9.8UGT1A9, UGT1A1, UGT1A4
3
Show member pathways
9.8UGT1A4, UGT1A9, UGT1A1
49.8UGT1A4, UGT1A1, UGT1A9
5
Show member pathways
9.8UGT1A1, UGT1A4, UGT1A9
6
Show member pathways
Nicotine metabolism36
9.6UGT1A9, UGT1A4, UGT2B10
79.6UGT1A9, UGT2B15, UGT1A1
89.6UGT2B15, UGT1A9, UGT1A4
9
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism36
7.0UGT2B10, UGT2B15, UGT2B28, UGT1A4, UGT1A9, UGT2A1
10
Show member pathways
7.0UGT2A1, UGT2B15, UGT1A9, UGT2B10, UGT1A4, UGT2B4
11
Show member pathways
7.0UGT2A1, UGT2B10, UGT1A4, UGT2B4, UGT1A9, UGT2B11
12
Show member pathways
7.0UGT2A1, UGT2B10, UGT1A4, UGT2B4, UGT1A9, UGT2B11
13
Show member pathways
tetrapyrrole biosynthesis36
heme degradation36
Heme Biosynthesis36
heme biosynthesis36
heme biosynthesis from uroporphyrinogen-III I36
6.6UGT1A9, UGT2B11, UGT2A3, UGT1A1, UGT2B28, UGT2B15
14
Show member pathways
6.3UGT1A9, UGT2A1, HMOX1, G6PD, UGT2B15, UGT2B28

Compounds for genes affiliated with Gilbert Syndrome

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Compounds related to Gilbert Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 171)
idCompoundScoreTop Affiliating Genes
1glucuronide438.6UGT1A9, UGT2B4, UGT1A, UGT1A4, UGT1A1, UGT2B15
2Deoxycholic acid 3-glucuronide247.4UGT1A1, UGT2A3, UGT2B11, UGT1A9, UGT2B4, UGT1A4
3Dextrorphan O-glucuronide247.4UGT2A1, UGT2B10, UGT1A4, UGT2B4, UGT2B15, UGT2B28
4Dopamine glucuronide247.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
5Epinephrine glucuronide247.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
6Isovalerylglucuronide247.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
7Ketoprofen glucuronide247.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
8Estriol 3-sulfate 16-glucuronide247.4UGT2A1, UGT2B10, UGT1A4, UGT2B15, UGT2B28, UGT1A1
96-Dehydrotestosterone glucuronide247.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
10Cortolone-3-glucuronide247.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
11Cotinineglucuronide247.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
12Dehydroepiandrosterone 3-glucuronide247.4UGT1A4, UGT2B10, UGT2A1, UGT2B4, UGT1A9, UGT2B11
13Dehydroisoandrosterone 3-glucuronide247.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
14Pregnanediol-3-glucuronide247.4UGT2B10, UGT2A1, UGT1A4, UGT2B15, UGT2B28, UGT1A1
15Tyramine glucuronide247.4UGT1A9, UGT2B4, UGT1A4, UGT2B10, UGT2A1, UGT2B11
16Uridine 5'-diphosphate247.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
17Retinoyl b-glucuronide247.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
18Valproic acid glucuronide247.4UGT2B4, UGT1A4, UGT2B10, UGT2A1, UGT1A9, UGT2B11
19Vitamin D2 3-glucuronide247.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
20Uridine diphosphate glucuronic acid247.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
21Nicotine glucuronide247.4UGT1A1, UGT2A3, UGT2B11, UGT1A9, UGT2B4, UGT1A4
22Octanoylglucuronide247.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
23Lithocholate 3-O-glucuronide247.4UGT2A1, UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11
24Phenethylamine glucuronide247.4UGT2A3, UGT2B11, UGT1A9, UGT2B4, UGT1A4, UGT2B10
25Palmitoyl glucuronide247.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
265-Hydroxy-6-methoxyindole glucuronide247.3UGT2A1, UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11
272-methoxyestradiol43 59 249.3UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9, UGT2B4
283-alpha-androstanediol glucuronide43 248.3UGT2B10, UGT2A1, UGT1A4, UGT2B4, UGT1A9, UGT2B15
291-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate)-beta-D-Glucopyranuronic acid247.3UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
301-Salicylate glucuronide247.3UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
3111-beta-hydroxyandrosterone-3-glucuronide247.3UGT2A1, UGT2B10, UGT1A4, UGT2B4, UGT2B15, UGT2B28
3211-Hydroxyprogesterone 11-glucuronide247.3UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
3311-Oxo-androsterone glucuronide247.3UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
34codeine43 28 49 24 1211.3UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
353,17-Androstanediol glucuronide247.2UGT1A4, UGT2B10, UGT2A1, UGT2B4, UGT2B15, UGT2B28
363-alpha-hydroxy-5-alpha-androstane-17-one 3-D-glucuronide247.2UGT2B11, UGT1A9, UGT2B4, UGT1A4, UGT2B10, UGT2A1
373-Methoxy-4-hydroxyphenylglycol glucuronide247.2UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
383-alpha,20-alpha-dihydroxy-5-beta-pregnane 3-glucuronide247.2UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
395-alpha-Dihydrotestosterone glucuronide247.1UGT1A9, UGT2B4, UGT1A4, UGT2B10, UGT2A1, UGT2B11
404-Hydroxyandrostenedione glucuronide247.1UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
4116-alpha,17-beta-estriol 17-beta-D-glucuronide247.0UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9, UGT2B4
42Bilirubin247.0UGT2B4, UGT1A4, UGT2B10, UGT2A1, UGT1A9, UGT2B11
4317-alpha-estradiol-3-glucuronide247.0UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
4417-beta-estradiol glucuronide247.0UGT2A1, UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11
4515-hydroxynorandrostene-3,17-dione glucuronide246.9UGT2A1, UGT2B10, UGT2B15, UGT2B28, UGT1A1, UGT2A3
46estradiol43 24 128.8UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
47estrone43 28 24 129.8UGT2A1, UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11
4825-Hydroxyvitamin D2-25-glucuronide246.7UGT1A1, UGT2A3, UGT2B11, UGT1A9, UGT2B4, UGT1A4
49testosterone43 59 24 129.6UGT2B11, UGT1A9, UGT2B4, UGT1A, UGT1A4, UGT2B10
50retinoic acid43 247.4HMOX1, UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11

GO Terms for genes affiliated with Gilbert Syndrome

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Cellular components related to Gilbert Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:00057896.9HMOX1, UGT2B10, UGT1A4, UGT2B4, UGT1A9, UGT2B11
2integral component of membraneGO:00160215.9UGT2B10, UGT1A4, UGT2B4, UGT1A9, UGT3A1, UGT2B11

Biological processes related to Gilbert Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cellular glucuronidationGO:0200103010.2UGT1A1, UGT1A9
2xenobiotic glucuronidationGO:005269710.2UGT1A9, UGT1A1
3flavonoid glucuronidationGO:005269610.2UGT1A9, UGT1A1
4flavone metabolic processGO:005155210.1UGT1A1, UGT1A9
5retinoic acid metabolic processGO:004257310.0UGT1A9, UGT1A1
6heme catabolic processGO:004216710.0HMOX1, UGT1A1
7estrogen metabolic processGO:00082109.8UGT1A1, UGT2B11
8porphyrin-containing compound metabolic processGO:00067789.7HMOX1, UGT1A1
9drug metabolic processGO:00171449.7UGT1A1, UGT1A9
10metabolic processGO:00081529.3UGT2A1, UGT2B4, UGT1A9, UGT2B28
11small molecule metabolic processGO:00442819.1UGT1A9, UGT1A1, G6PD, HMOX1, UGT1A4
12cellular glucuronidationGO:00526958.7UGT2B15, UGT1A1, UGT2A3, UGT2B4, UGT1A4, UGT2A1
13xenobiotic metabolic processGO:00068058.2UGT1A4, UGT2B4, UGT1A9, UGT2B11, UGT1A1, UGT2B28

Molecular functions related to Gilbert Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1enzyme inhibitor activityGO:000485710.0UGT1A1, UGT1A9
2enzyme bindingGO:00198999.2UGT1A4, UGT1A9, UGT1A1, HMOX1
3UDP-glycosyltransferase activityGO:00081949.1UGT3A2, UGT3A1
4retinoic acid bindingGO:00019728.8UGT1A4, UGT2B4, UGT1A9, UGT1A1, UGT2B15
5protein homodimerization activityGO:00428038.8HMOX1, G6PD, UGT1A1, UGT1A9, UGT1A4
6glucuronosyltransferase activityGO:00150205.7UGT2B15, UGT2A1, UGT2B10, UGT1A4, UGT2B4, UGT1A9

Products for genes affiliated with Gilbert Syndrome

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Sources for Gilbert Syndrome

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3CDC
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22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet