MCID: GLB001
MIFTS: 61

Gilbert Syndrome malady

Genetic diseases, Rare diseases, Liver diseases categories

Summaries for Gilbert Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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

MalaCards: Gilbert Syndrome, also known as gilbert's syndrome, is related to kernicterus and hereditary spherocytosis. 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 Estrogen metabolism. The compounds Deoxycholic acid 3-glucuronide and Estrone glucuronide have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and heart.

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.

Wikipedia:66 Gilbert\'s syndrome (/?i?l?b??r/ zheel-BAIR), often shortened to GS, also called Gilbert?Meulengracht... more...

Description from OMIM:48 143500

Aliases & Classifications for Gilbert Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 48OMIM, 21GeneTests, 23GTR, 63UMLS, 46Novoseek, 59SNOMED-CT, 41NCIt, 36MeSH, 26ICD10
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Classifications:

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


Aliases & Descriptions:

gilbert syndrome 9 44 22 11 48
gilbert's syndrome 9 21 23 22
gilbert's disease 9 44 22
gilbert disease 22 63
constitutional hyperbilirubinemia 9
unconjugated benign bilirubinemia 22
constitutional liver dysfunction 22
hereditary nonhemolytic jaundice 9
familial nonhemolytic jaundice 22
hyperbilirubinemia arias type 44
gilbert-meulengracht syndrome 9
gilbert-lereboullet syndrome 22
hyperbilirubinemia type 1 44
meulengracht syndrome 22
hyperbilirubinemia 1 22
cholemia, familial 44
gilberts syndrome 46


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Disease Ontology9 DOID:2739
NCIt41 C84729
OMIM48 143500
MeSH36 D005878
ICD1026 E80.4

Related Diseases for Gilbert Syndrome

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18GeneCards, 19GeneDecks
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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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48OMIM
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Symptoms by clinical synopsis from OMIM:

143500

Clinical features from OMIM:

143500

Drugs & Therapeutics for Gilbert Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Gilbert Syndrome

Search CenterWatch for Gilbert Syndrome

Genetic Tests for Gilbert Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Gilbert Syndrome:

id Genetic test Affiliating Genes
1 Gilbert Syndrome21 UGT1A1
2 Gilbert's Syndrome23

Anatomical Context for Gilbert Syndrome

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34MalaCards
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MalaCards organs/tissues related to Gilbert Syndrome:

34
Liver, Testes, Heart, Breast, Endothelial

Animal Models for Gilbert Syndrome or affiliated genes

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Publications for Gilbert Syndrome

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53PubMed
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Articles related to Gilbert Syndrome:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Gilbert syndrome. (22160004)
2012
2
Coexistence of Gilbert syndrome with hereditary haemolytic anaemias. (22554963)
2012
3
Gilbert syndrome redefined: a complex genetic haplotype influences the regulation of glucuronidation. (22213127)
2012
4
Gilbert syndrome increasing unconjugated hyperbilirubinemia in a child with hereditary spherocytosis. (22134611)
2012
5
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
6
Hyperbilirubinemia, augmentation of endothelial function, and decrease in oxidative stress in Gilbert syndrome. (22773454)
2012
7
Right-lobe liver transplant from donors with Gilbert syndrome. (22309418)
2012
8
Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects. (22325916)
2012
9
Diagnosis and treatment difficulties in 18-year-old male patient with hereditary hemochromatosis, chronic hepatitis B, Gilbert syndrome and ulcerative colitis. (21633730)
2011
10
Is Gilbert syndrome a new risk factor for breast cancer? (21636218)
2011
11
Prevalence of Gilbert syndrome in parents of neonates with pathologic indirect hyperbilirubinemia. (21403409)
2011
12
Gilbert syndrome in Iran, Fars Province. (20103965)
2010
13
Combined effect of regulatory polymorphisms on transcription of UGT1A1 as a cause of Gilbert syndrome. (20529348)
2010
14
Gilbert syndrome as a predisposing factor for cholelithiasis risk in the Greek adult population. (19309288)
2009
15
''Iatrogenic Gilbert syndrome''--a strategy for reducing vascular and cancer risk by increasing plasma unconjugated bilirubin. (17825497)
2007
16
Relationship between Gilbert syndrome and prevalence of vascular complications in patients with diabetes. (17895455)
2007
17
Gilbert syndrome presenting in a young boy, confirmed by the rifampin test. (17877076)
2007
18
Coinheritance of Gilbert syndrome-associated UGT1A1 mutation increases gallstone risk in cystic fibrosis. (16557566)
2006
19
Linkage between A(TA)7TAA and -3279T>G mutations in UGT1A1 is not essential for pathogenesis of Gilbert syndrome. (17105600)
2006
20
Gilbert syndrome and the development of antiretroviral therapy-associated hyperbilirubinemia: genetic screening is unnecessary. (16652295)
2006
21
Decreased levels of advanced glycation end-products in patients with Gilbert syndrome. (16309589)
2005
22
The polymorphism c.-3279T>G in the phenobarbital-responsive enhancer module of the bilirubin UDP-glucuronosyltransferase gene is associated with Gilbert syndrome. (16244305)
2005
23
Use of fully denaturing HPLC for UGT1A1 genotyping in Gilbert syndrome. (16244298)
2005
24
Increased prevalence of cholelithiasis in Gaucher disease: association with splenectomy but not with gilbert syndrome. (15232362)
2004
25
Simultaneous presence of Gilbert syndrome and hereditary spherocytosis: interaction in the pathogenesis of hyperbilirubinemia and gallstone formation. (14631626)
2003
26
Glucose-6-phosphate dehydrogenase deficiency, neonatal hyperbilirubinemia and Gilbert syndrome]. (12680285)
2002
27
TATA-Box polymorphism in the uridine diphosphate glucuronosyl transferase gene in Portuguese patients with clinical diagnosis of Gilbert Syndrome. (11940506)
2002
28
Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome. (12064902)
2002
29
Gilbert syndrome and ischemic heart disease: a protective effect of elevated bilirubin levels. (11849670)
2002
30
Re: unusual early presentation of Gilbert syndrome in pediatric recipients of liver transplantation. (11345189)
2001
31
Gilbert syndrome revealed during chemotherapy. (11241448)
2001
32
Hyperbilirubinaemia, glucose-6-phosphate dehydrogenase deficiency and Gilbert syndrome. (11277384)
2001
33
Gilbert syndrome associated with beta-thalassemia. (11764096)
2001
34
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype. (11013440)
2000
35
Unusual early presentation of Gilbert syndrome in pediatric recipients of liver transplantation. (10997365)
2000
36
Gilbert syndrome: analysis of the promoter region of the uridine diphosphate-glucuronosyltransferase 1 gene in the Greek population. (11079211)
2000
37
Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. (10498597)
1999
38
Jaundice with hypertrophic pyloric stenosis as an early manifestation of Gilbert syndrome. (10490432)
1999
39
Contribution of the TATA-box genotype (Gilbert syndrome) to serum bilirubin concentrations in the Italian population. (10352000)
1999
40
Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene. (9627603)
1998
41
Benign congenital jaundice (hyperbilirubinemia): a case of Gilbert syndrome. (9592443)
1998
42
Gilbert syndrome accelerates development of neonatal jaundice. (9580766)
1998
43
Gilbert syndrome. (8716954)
1996
44
Asymptomatic unconjugated hyperbilirubinemia (Gilbert syndrome) among Saudis in Jeddah. (17590625)
1995
45
Jaundice with hypertrophic pyloric stenosis: a possible early manifestation of Gilbert syndrome. (2738801)
1989
46
Kinetics of oxazepam and lorazepam in two subjects with Gilbert syndrome. (6120963)
1981
47
Identifying the gilbert syndrome. (18748488)
1979
48
Marked hyperbilirubinemia with Gilbert syndrome and immunohemolytic anemia. (712491)
1978
49
Editorial: New test for Gilbert syndrome. (4203814)
1974
50
Gilbert syndrome and factor-VII deficiency. (4194152)
1970

Variations for Gilbert Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Gilbert Syndrome:

1
id Gene Name 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*28duplicationPathogenic, associationrs34983651GRCh37Chr 2, 234668880: 234668893
4NM_000463.2(UGT1A1): c.211G> A (p.Gly71Arg)single nucleotide variantPathogenic, associationrs4148323GRCh37Chr 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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gilbert Syndrome

Search GEO for disease gene expression data for Gilbert Syndrome.

Pathways for genes affiliated with Gilbert Syndrome

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51PathCards, 52PharmGKB, 39NCBI BioSystems Database, 61Thomson Reuters, 56Reactome, 31KEGG
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Pathways related to Gilbert Syndrome according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0UGT1A1, UGT1A9
2
Show member pathways
9.8UGT1A1, UGT1A9, UGT1A4
3
Show member pathways
9.8UGT1A1, UGT1A9, UGT1A4
49.8UGT1A4, UGT1A9, UGT1A1
5
Show member pathways
9.8UGT1A1, UGT1A9, UGT1A4
6
Show member pathways
Nicotine metabolism39
9.6UGT2B10, UGT1A4, UGT1A9
79.6UGT1A9, UGT1A1, UGT2B15
89.6UGT1A4, UGT1A9, UGT2B15
9
Show member pathways
7.0UGT1A9, UGT2B11, UGT2A3, UGT1A1, UGT2B28, UGT2B15
10
Show member pathways
7.0UGT2B15, UGT2B28, UGT2A1, UGT2B10, UGT1A4, UGT2B4
11
Show member pathways
7.0UGT2A1, UGT2B10, UGT1A4, UGT2B4, UGT1A9, UGT2B11
12
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism39
7.0UGT2A1, UGT2B10, UGT1A4, UGT2B4, UGT1A9, UGT2B11
13
Show member pathways
tetrapyrrole biosynthesis39
heme degradation39
Heme Biosynthesis39
heme biosynthesis39
heme biosynthesis from uroporphyrinogen-III I39
6.6UGT2A1, UGT2B10, UGT1A4, UGT2B4, UGT1A9, UGT2B11
14
Show member pathways
6.3UGT1A9, UGT2B4, UGT1A4, UGT2B10, UGT2A1, UGT2B11

Compounds for genes affiliated with Gilbert Syndrome

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25HMDB, 30IUPHAR, 12DrugBank, 46Novoseek, 62Tocris Bioscience
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Compounds related to Gilbert Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 171)
idCompoundScoreTop Affiliating Genes
1Deoxycholic acid 3-glucuronide257.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
2Estrone glucuronide257.4UGT1A4, UGT2B10, UGT2A1, UGT2B4, UGT1A9, UGT2B11
3Etiocholanolone glucuronide257.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
4Glycochenodeoxycholic acid 3-glucuronide257.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
5Inodxyl glucuronide257.4UGT2A1, UGT2B10, UGT1A4, UGT2B4, UGT2B15, UGT2B28
6Isovalerylglucuronide257.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
7Ketoprofen glucuronide257.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
8Cholestane-3,7,12,25-tetrol-3-glucuronide257.4UGT1A4, UGT2B10, UGT2A1, UGT2B15, UGT2B28, UGT1A1
9Cholic acid glucuronide257.4UGT2B11, UGT1A9, UGT2B4, UGT1A4, UGT2B10, UGT2A1
10Cortolone-3-glucuronide257.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
11Cholesterol glucuronide257.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
12Dehydroepiandrosterone 3-glucuronide257.4UGT2B4, UGT1A4, UGT2B10, UGT2A1, UGT1A9, UGT2B11
13Dehydroisoandrosterone 3-glucuronide257.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
14Cotinineglucuronide257.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
15trans-3-Hydroxycotinine glucuronide257.4UGT1A4, UGT2B10, UGT2A1, UGT2B15, UGT2B28, UGT1A1
16Tyramine glucuronide257.4UGT2B11, UGT1A9, UGT2B4, UGT1A4, UGT2B10, UGT2A1
17Uridine 5'-diphosphate257.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
18Triiodothyronine glucuronide257.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
19Valproic acid glucuronide257.4UGT2B4, UGT1A4, UGT2B10, UGT2A1, UGT1A9, UGT2B11
20Vitamin D2 3-glucuronide257.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
21Uridine diphosphate glucuronic acid257.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
22Nicotine glucuronide257.4UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9, UGT2B4
23Octanoylglucuronide257.4UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
24Lithocholate 3-O-glucuronide257.4UGT2A1, UGT2B10, UGT2B15, UGT2B28, UGT1A1, UGT2A3
25Thyroxine glucuronide257.4UGT2A3, UGT2B11, UGT1A9, UGT2B4, UGT1A4, UGT2B10
26Tetrahydroaldosterone-3-glucuronide257.3UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
27estriol30 25 129.3UGT1A4, UGT2B10, UGT2A1, UGT2B15, UGT2B28, UGT1A1
28(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)257.3UGT2B11, UGT1A9, UGT2B4, UGT1A4, UGT2B10, UGT2A1
291-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate)-beta-D-Glucopyranuronic acid257.3UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
30bilirubin diglucuronide46 258.3UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
3111-beta-hydroxyandrosterone-3-glucuronide257.3UGT2B4, UGT1A4, UGT2B10, UGT2A1, UGT1A9, UGT2B11
3211-Hydroxyprogesterone 11-glucuronide257.3UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
331-Salicylate glucuronide257.3UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
34aldosterone 18-glucuronide46 258.3UGT2A3, UGT2B11, UGT1A9, UGT2B4, UGT1A4, UGT2B10
3511-Oxo-androsterone glucuronide257.2UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
3625-Hydroxyvitamin D2-25-glucuronide257.2UGT2B11, UGT1A9, UGT2B4, UGT1A4, UGT2B10, UGT2A1
373-alpha,20-alpha-dihydroxy-5-beta-pregnane 3-glucuronide257.2UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9, UGT2B4
383-alpha-hydroxy-5-alpha-androstane-17-one 3-D-glucuronide257.2UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
393,17-Androstanediol glucuronide257.2UGT2A1, UGT2B10, UGT2B15, UGT2B28, UGT1A1, UGT2A3
40Bilirubin glucuronide257.1UGT2A3, UGT2B11, UGT1A9, UGT2B4, UGT1A4, UGT2B10
413-Methoxy-4-hydroxyphenylglycol glucuronide257.1UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
4215-hydroxynorandrostene-3,17-dione glucuronide257.0UGT2B10, UGT2A1, UGT1A4, UGT2B4, UGT1A9, UGT2B15
432-Methoxyestrone257.0UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
442-Phenylethanol glucuronide257.0UGT2A1, UGT2B10, UGT1A4, UGT2B15, UGT2B28, UGT1A1
452-Methoxyestrone 3-glucuronide256.9UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
46estradiol46 25 128.8UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
47estrone46 30 25 129.8UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
4825-Hydroxyvitamin D2 25-(beta-glucuronide)256.7UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11, UGT1A9
49testosterone46 62 25 129.6UGT2B11, UGT1A9, UGT2B4, UGT1A, UGT1A4, UGT2B10
50retinoic acid46 257.4HMOX1, UGT2B15, UGT2B28, UGT1A1, UGT2A3, UGT2B11

GO Terms for genes affiliated with Gilbert Syndrome

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17Gene Ontology
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Cellular components related to Gilbert Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057896.9HMOX1, UGT2B10, UGT1A4, UGT2B4, UGT1A9, UGT2B11
2integral component of membraneGO:0160215.9UGT2B10, UGT1A4, UGT2B4, UGT1A9, UGT3A1, UGT2B11

Biological processes related to Gilbert Syndrome according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cellular glucuronidationGO:200103010.2UGT1A1, UGT1A9
2xenobiotic glucuronidationGO:05269710.2UGT1A9, UGT1A1
3flavonoid glucuronidationGO:05269610.2UGT1A9, UGT1A1
4flavone metabolic processGO:05155210.1UGT1A1, UGT1A9
5retinoic acid metabolic processGO:04257310.0UGT1A9, UGT1A1
6heme catabolic processGO:04216710.0HMOX1, UGT1A1
7estrogen metabolic processGO:0082109.8UGT1A1, UGT2B11
8porphyrin-containing compound metabolic processGO:0067789.7HMOX1, UGT1A1
9drug metabolic processGO:0171449.7UGT1A1, UGT1A9
10metabolic processGO:0081529.3UGT2A1, UGT2B4, UGT1A9, UGT2B28
11small molecule metabolic processGO:0442819.1UGT1A9, UGT1A1, G6PD, HMOX1, UGT1A4
12cellular glucuronidationGO:0526958.7UGT2B15, UGT1A1, UGT2A3, UGT2B4, UGT1A4, UGT2A1
13xenobiotic metabolic processGO:0068058.2UGT1A4, UGT2B4, UGT1A9, UGT2B11, UGT1A1, UGT2B28

Molecular functions related to Gilbert Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1enzyme inhibitor activityGO:00485710.0UGT1A1, UGT1A9
2enzyme bindingGO:0198999.2UGT1A4, UGT1A9, UGT1A1, HMOX1
3UDP-glycosyltransferase activityGO:0081949.1UGT3A2, UGT3A1
4retinoic acid bindingGO:0019728.8UGT1A4, UGT2B4, UGT1A9, UGT1A1, UGT2B15
5protein homodimerization activityGO:0428038.8HMOX1, G6PD, UGT1A1, UGT1A9, UGT1A4
6glucuronosyltransferase activityGO:0150205.7UGT2B15, UGT2A1, UGT2B10, UGT1A4, UGT2B4, UGT1A9

Products for genes affiliated with Gilbert Syndrome

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Sources for Gilbert Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet