GILBS
MCID: GLB001
MIFTS: 55

Gilbert Syndrome (GILBS)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases
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Aliases & Classifications for Gilbert Syndrome

MalaCards integrated aliases for Gilbert Syndrome:

Name: Gilbert Syndrome 57 11 19 42 73 28 12 5 14 38 16 31 33
Gilbert Disease 42 43 71 33
Gilbert's Syndrome 11 42 75
Gilbert's Disease 11 19 42
Gilbert Syndrome, Susceptibility to 28 5
Meulengracht Syndrome 42 33
Cholemia, Familial 19 75
Low-Grade Chronic Hyperbilirubinaemia Syndrome 33
Benign Unconjugated Bilirubinaemia Syndrome 33
Idiopathic Unconjugated Hyperbilirubinaemia 33
Hereditary Nonhaemolytic Bilirubinaemia 33
Chronic Intermittent Juvenile Jaundice 33
Familial Nonhaemolytic Bilirubinaemia 33
Constitutional Hyperbilirubinaemia 33
Constitutional Hepatic Dysfunction 33
Constitutional Hyperbilirubinemia 11
Unconjugated Benign Bilirubinemia 42
Hereditary Nonhaemolytic Jaundice 33
Hyperbilirubinemia, Gilbert Type 57
Hereditary Nonhemolytic Jaundice 11
Constitutional Liver Dysfunction 42
Familial Nonhaemolytic Jaundice 33
Hyperbilirubinemia, Arias Type 57
Familial Nonhemolytic Jaundice 42
Idiopathic Hyperbilirubinaemia 33
Icterus Intermittens Juvenilis 33
Gilbert-Meulengracht Syndrome 11
Hyperbilirubinemia Arias Type 19
Gilbert--Lereboullet Syndrome 33
Congenital Familial Cholaemia 33
Gilbert-Lereboullet Syndrome 42
Cholaemia Familiaris Simplex 33
Hyperbilirubinaemia Type 1 33
Hyperbilirubinemia Type 1 19
Physiologic Cholaemia 33
Hyperbilirubinemia I 57
Hyperbilirubinemia 1 42
Meulengracht Icterus 33
Familial Cholaemia 33
Gilberts Syndrome 53
Gilbert Cholaemia 33
Hblrg 57
Gilbs 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
common (up to 7% of the population)
rarely produces clinical jaundice
decreased bilirubin concentration with phenobarbital administration
does not lead to hepatic failure


Classifications:



External Ids:

Disease Ontology 11 DOID:2739
OMIM® 57 143500
OMIM Phenotypic Series 57 PS237450
MeSH 43 D005878
NCIt 49 C84729
SNOMED-CT 68 27503000
ICD10 31 E80.4
MedGen 40 C0017551
SNOMED-CT via HPO 69 18165001 7752002
ICD11 33 1947520963
UMLS 71 C0017551

Summaries for Gilbert Syndrome

GARD: 19 Gilbert syndrome is a mild liver disorder that impairs the body's ability to process bilirubin, a substance made when old red blood cells are broken down. This leads to fluctuating levels of bilirubin in the blood, sometimes causing levels to be high (hyperbilirubinemia). Most people with Gilbert syndrome do not have symptoms or have mild jaundice. In some cases, jaundice is triggered or made worse by stress, exercise, fasting, dehydration, drinking alcohol, or illness. Some people with Gilbert syndrome have reported other symptoms such as fatigue, weakness, nausea, or diarrhea. There has not been evidence these other symptoms are caused by hypebilirubinemia, and the cause of these symptoms currently is unclear. People with Gilbert syndrome may also have more side effects from certain drugs such as irinotecan. Gilbert syndrome is caused by genetic changes in the UGT1A1 gene and inheritance is autosomal recessive. Genetic changes in this gene cause reduced levels of a liver enzyme needed to eliminate bilirubin from the body, causing bilirubin to accumulate. People with Gilbert syndrome have about one third of the normal enzyme activity, which usually is enough to prevent symptoms from developing. Of note, genetic changes in the UGT1A1 gene can alternatively cause other disorders, such as Crigler-Najjar syndrome. There are two forms: Crigler-Najjar syndrome type 1 (CN-1) and Crigler-Najjar syndrome type 2 (CN-2). In both types, jaundice is persistent and more severe than in Gilbert syndrome, with CN-1 causing potentially severe symptoms. Sometimes it can be hard to distinguish between Gilbert syndrome and CN-2 because of considerable overlap in measured bilirubin levels. Genetic testing to identify the specific genetic change present is sometimes needed for the correct diagnosis.

MalaCards based summary: Gilbert Syndrome, also known as gilbert disease, is related to crigler-najjar syndrome, type ii and thalassemia. An important gene associated with Gilbert Syndrome is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1), and among its related pathways/superpathways are Metabolism and Nuclear receptors meta-pathway. Affiliated tissues include liver, skin and breast, and related phenotypes are unconjugated hyperbilirubinemia and jaundice

MedlinePlus Genetics: 42 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.Gilbert syndrome is usually recognized in adolescence. If people with this condition have episodes of hyperbilirubinemia, these episodes are generally mild and typically occur when the body is under stress, for instance because of dehydration, prolonged periods without food (fasting), illness, vigorous exercise, or menstruation. Some people with Gilbert syndrome also experience abdominal discomfort or tiredness. However, approximately 30 percent of people with Gilbert syndrome have no signs or symptoms of the condition and are discovered only when routine blood tests reveal elevated unconjugated bilirubin levels.

OMIM®: 57 The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I (218800), and Crigler-Najjar syndrome type II (606785); and (2) those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome (237500), Rotor syndrome (237450), and several forms of intrahepatic cholestasis (147480, 211600, 214950, 243300). Detailed studies show that patients with Gilbert syndrome have reduced activity of bilirubin glucuronosyltransferase (Bosma et al., 1995, Koiwai et al., 1995). (143500) (Updated 08-Dec-2022)

Disease Ontology: 11 A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.

UniProtKB/Swiss-Prot: 73 Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints.

Wikipedia 75 Cholemia, familial: Cholemia is a condition caused by the presence of excess bile in the blood. Its symptoms can include... more...

Gilbert's syndrome: Gilbert syndrome (GS) is a syndrome in which the liver of affected individuals processes bilirubin more... more...

Related Diseases for Gilbert Syndrome

Diseases related to Gilbert Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 203)
# Related Disease Score Top Affiliating Genes
1 crigler-najjar syndrome, type ii 31.9 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 thalassemia 31.1 UGT1A1 GPT G6PD
3 hereditary spherocytosis 31.0 UGT1A8 UGT1A6 UGT1A1 G6PD
4 glucosephosphate dehydrogenase deficiency 31.0 UGT1A8 UGT1A6 UGT1A1 SLCO1B1 GPT G6PD
5 neonatal jaundice 31.0 UGT1A8 UGT1A6 UGT1A1 SLCO1B1 G6PD
6 bilirubin metabolic disorder 31.0 UGT2B7 UGT2B15 UGT1A9 UGT1A8 UGT1A7 UGT1A6
7 cholelithiasis 30.9 UGT1A8 UGT1A6 UGT1A1 GPT
8 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 30.9 UGT1A8 UGT1A6 UGT1A1
9 sickle cell anemia 30.5 UGT1A8 UGT1A6 UGT1A1 G6PD
10 crigler-najjar syndrome, type i 30.4 UGT2B7 UGT2B15 UGT1A9 UGT1A8 UGT1A7 UGT1A6
11 choledocholithiasis 30.3 UGT1A1 GPT
12 alpha-thalassemia 30.3 UGT1A8 UGT1A6 UGT1A1 G6PD
13 kernicterus 30.3 UGT1A9 UGT1A8 UGT1A6 UGT1A5 UGT1A3 UGT1A10
14 drug-induced hepatitis 30.2 NAT2 GPT
15 autoimmune hepatitis 30.2 UGT1A1 TPMT GPT
16 neutropenia 30.2 UGT1A9 UGT1A7 UGT1A1 TPMT SLCO1B1 GPT
17 bilirubin, serum level of, quantitative trait locus 1 30.1 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
18 hyperbilirubinemia, transient familial neonatal 30.1 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
19 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis 11.2
20 congenital nonhemolytic jaundice 11.1
21 hyperbilirubinemia, shunt, primary 11.0
22 blood group incompatibility 10.4 UGT1A8 UGT1A1 G6PD
23 nephrotic syndrome, type 20 10.4 UGT1A8 UGT1A6 UGT1A1
24 autosomal dominant beta thalassemia 10.4 UGT1A8 UGT1A6 UGT1A1
25 epicardium cancer 10.4 UGT1A8 UGT1A1
26 pericholangitis 10.4 UGT1A5 UGT1A10 GPT
27 dihydropyrimidine dehydrogenase deficiency 10.4 UGT1A8 UGT1A6 UGT1A1 DPYD
28 trimethoprim allergy 10.4 NAT2 G6PD
29 coumarin resistance 10.3 UGT1A8 UGT1A1 TPMT SLCO1B1
30 hydrops of gallbladder 10.3 GPT G6PD
31 pigmentation disease 10.3 UGT1A8 UGT1A6 UGT1A1 SLCO1B1 G6PD
32 peliosis hepatis 10.3 TPMT GPT
33 severe cutaneous adverse reaction 10.3 UGT2B7 TPMT SLCO1B1 GPT
34 gallbladder disease 1 10.3
35 hemolytic anemia 10.3
36 thiopurines, poor metabolism of, 1 10.3 UGT1A8 UGT1A6 UGT1A1 TPMT SLCO1B1 DPYD
37 acetaminophen metabolism 10.3 UGT2B15 UGT1A9 UGT1A6 UGT1A3 UGT1A10 UGT1A1
38 neonatal abstinence syndrome 10.3 UGT2B7 SLC35A2
39 splenomegaly 10.3
40 drug allergy 10.2 TPMT GPT
41 dubin-johnson syndrome 10.2
42 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.2
43 familial mediterranean fever 10.1
44 brucellosis 10.1
45 acne 10.1
46 hemochromatosis, type 1 10.1
47 beta-thalassemia 10.1
48 hypertrophic pyloric stenosis 10.1
49 pyloric stenosis 10.1
50 hyperbilirubinemia, rotor type 10.1

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



Diseases related to Gilbert Syndrome

Symptoms & Phenotypes for Gilbert Syndrome

Human phenotypes related to Gilbert Syndrome:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 unconjugated hyperbilirubinemia 30 Very rare (1%) HP:0008282
2 jaundice 30 HP:0000952

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Laboratory Abnormalities:
decreased hepatic udp-glucuronyl-transferase activity
hyperbilirubinemia, non-hemolytic unconjugated (may rise with fasting or dehydration)
normal liver function test

Clinical features from OMIM®:

143500 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Gilbert Syndrome according to GeneCards Suite gene sharing:

25 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 BLVRA DPYD G6PD GPT NAT2 SLC35A2
2 no effect GR00402-S-2 10.14 BLVRA DPYD NAT2 SLC35A2 SLCO1B1 TPMT
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.83 UGT1A4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.83 UGT1A3 UGT1A4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.83 UGT1A7
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.83 UGT1A4
7 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.83 UGT1A4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.83 UGT1A7
9 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.83 UGT1A3 UGT1A4 UGT1A7
10 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.83 UGT1A3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.83 UGT1A4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.83 UGT1A7
13 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.83 UGT1A7
14 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.83 UGT1A7

Drugs & Therapeutics for Gilbert Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Gilbert Disease - An International, Multi- Center, Epidemiological Protocol Active, not recruiting NCT02712138

Search NIH Clinical Center for Gilbert Syndrome

Cochrane evidence based reviews: gilbert disease

Genetic Tests for Gilbert Syndrome

Genetic tests related to Gilbert Syndrome:

# Genetic test Affiliating Genes
1 Gilbert Syndrome 28 UGT1A1
2 Gilbert Syndrome, Susceptibility to 28

Anatomical Context for Gilbert Syndrome

Organs/tissues related to Gilbert Syndrome:

MalaCards : Liver, Skin, Breast, Small Intestine, Endothelial, Heart, Myeloid

Publications for Gilbert Syndrome

Articles related to Gilbert Syndrome:

(show top 50) (show all 1205)
# Title Authors PMID Year
1
Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter. 53 62 57 5
17496722 2007
2
Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia. 53 62 57 5
11906189 2002
3
Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects. 53 62 57 5
11003624 2000
4
A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene. 53 62 57 5
10412811 1999
5
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. 53 62 57 5
7565971 1995
6
Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. 53 62 57 5
8528206 1995
7
Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates. 53 62 5
18004206 2007
8
Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. 53 62 5
15378351 2004
9
Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects. 53 62 5
15304120 2004
10
Correlation of mutational analysis to clinical features in Taiwanese patients with Gilbert's syndrome. 53 62 57
11316168 2001
11
Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene. 53 62 5
11061796 2000
12
Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn. 53 62 5
10190918 1999
13
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? 53 62 5
9653159 1998
14
Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome. 53 62 5
9375768 1997
15
Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia. 53 62 5
9342374 1997
16
Pharmacogenetics of Gilbert's syndrome. 62 57
18518849 2008
17
Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome. 62 5
14616765 2003
18
The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. 62 5
12850492 2003
19
Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates. 62 5
10968441 2000
20
Intermittent jaundice in patients with acute leukaemia: a common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians. 62 5
10472535 1999
21
Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese. 62 5
9929972 1999
22
Gilbert's syndrome--a legitimate genetic anomaly? 62 57
7565981 1995
23
A nonhuman primate model of Gilbert's syndrome. 62 57
6706295 1984
24
Polymorphic acetylation and aminopyrine demethylation in Gilbert's syndrome. 62 57
100326 1978
25
Population studies on Gilbert's syndrome. 62 57
1142378 1975
26
Constitutional hepatic dysfunction (Gilbert's syndrome). A new definition based on kinetic studies with unconjugated radiobilirubin. 62 57
5455561 1970
27
Treatment of Gilbert's syndrome with phenobarbitone. 62 57
4195058 1970
28
Hepatic bilirubin udp-glucuronyl transferase activity in liver disease and gilbert's syndrome. 62 57
5770050 1969
29
Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families. 62 57
6054997 1967
30
Gilbert's disease and the bilirubin tolerance test. 62 57
6017546 1967
31
Constitutional hepatic dysfunction (Gilbert's disease): its natural history and related syndromes. 62 57
13632313 1959
32
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for UGT1A1 and Atazanavir Prescribing. 5
26417955 2016
33
Associations between UGT1A1*6 or UGT1A1*6/*28 polymorphisms and irinotecan-induced neutropenia in Asian cancer patients. 5
24519753 2014
34
PharmGKB summary: very important pharmacogene information for UGT1A1. 5
24492252 2014
35
Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding. 5
23014115 2013
36
Genetic factors influencing severe atazanavir-associated hyperbilirubinemia in a population with low UDP-glucuronosyltransferase 1A1*28 allele frequency. 5
20504240 2010
37
Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations. 5
19243019 2009
38
Global gene expression as a function of germline genetic variation. 5
15857854 2005
39
Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. 5
16114182 2005
40
Pharmacogenetics and drug development: the path to safer and more effective drugs. 5
15372086 2004
41
UDP-glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia. 5
12859413 2003
42
Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome. 5
12402338 2002
43
Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. 5
11425418 2001
44
Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus. 5
11370628 2001
45
Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese. 5
9784835 1998
46
UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. 5
9446675 1998
47
Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II. 5
9621515 1998
48
Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2. 5
8276413 1993
49
A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. 5
8514037 1993
50
The cDNA sequence and expression of a variant 17 beta-hydroxysteroid UDP-glucuronosyltransferase. 5
1692835 1990

Variations for Gilbert Syndrome

ClinVar genetic disease variations for Gilbert Syndrome:

5 (show top 50) (show all 75)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1198A>G (p.Asn400Asp) SNV Affects
12286 rs28934877 GRCh37: 2:234676979-234676979
GRCh38: 2:233768333-233768333
2 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) SNV Pathogenic; Affects
12274 rs35350960 GRCh37: 2:234669619-234669619
GRCh38: 2:233760973-233760973
3 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.725del (p.Val242fs) DEL Pathogenic
1694445 GRCh37: 2:234669658-234669658
GRCh38: 2:233761012-233761012
4 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1270G>T (p.Glu424Ter) SNV Pathogenic
1676209 GRCh37: 2:234677051-234677051
GRCh38: 2:233768405-233768405
5 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.492_493del (p.Leu166fs) DEL Pathogenic
1676206 GRCh37: 2:234669424-234669425
GRCh38: 2:233760778-233760779
6 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1304+1G>T SNV Pathogenic
1686290 GRCh37: 2:234677086-234677086
GRCh38: 2:233768440-233768440
7 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter) SNV Pathogenic
12269 rs72551349 GRCh37: 2:234676519-234676519
GRCh38: 2:233767873-233767873
8 UGT1A1, UGT1A, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_001072.4(UGT1A6):c.862-6799_862-6798insTA INSERT Pathogenic
594666 rs1559406508 GRCh37: 2:234668881-234668882
GRCh38: 2:233760235-233760236
9 SLCO1B1 NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) SNV Pathogenic
37346 rs4149056 GRCh37: 12:21331549-21331549
GRCh38: 12:21178615-21178615
10 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) SNV Pathogenic
Likely Pathogenic
12281 rs34993780 GRCh37: 2:234681059-234681059
GRCh38: 2:233772413-233772413
11 UGT1A1, UGT1A, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 UGT1A1*28 MICROSAT Pathogenic
Conflicting Interpretations Of Pathogenicity
12275 rs3064744 GRCh37: 2:234668881-234668881
GRCh38: 2:233760233-233760234
12 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1220del (p.Lys407fs) DEL Pathogenic
1206193 GRCh37: 2:234677000-234677000
GRCh38: 2:233768354-233768354
13 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1060T>A (p.Trp354Arg) SNV Pathogenic
597089 rs1559414817 GRCh37: 2:234676558-234676558
GRCh38: 2:233767912-233767912
14 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.182C>G (p.Ala61Gly) SNV Likely Pathogenic
1394579 GRCh37: 2:234669115-234669115
GRCh38: 2:233760469-233760469
15 UGT1A1, UGT1A, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_001072.4(UGT1A6):c.862-10021T>G SNV Likely Pathogenic
Risk Factor
12288 rs4124874 GRCh37: 2:234665659-234665659
GRCh38: 2:233757013-233757013
16 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu) SNV Likely Pathogenic
12272 rs62625011 GRCh37: 2:234675738-234675738
GRCh38: 2:233767092-233767092
17 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.917C>T (p.Ser306Phe) SNV Likely Pathogenic
1676208 GRCh37: 2:234675732-234675732
GRCh38: 2:233767086-233767086
18 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.2_17del (p.Met1fs) DEL Likely Pathogenic
1679369 GRCh37: 2:234668932-234668947
GRCh38: 2:233760286-233760301
19 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) SNV Likely Pathogenic
Conflicting Interpretations Of Pathogenicity
212543 rs34946978 GRCh37: 2:234676872-234676872
GRCh38: 2:233768226-233768226
20 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 UGT1A1*6 SNV Conflicting Interpretations Of Pathogenicity
12280 rs4148323 GRCh37: 2:234669144-234669144
GRCh38: 2:233760498-233760498
21 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala) SNV Uncertain Significance
289882 rs144217005 GRCh37: 2:234669259-234669259
GRCh38: 2:233760613-233760613
22 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.141C>T (p.Ile47=) SNV Uncertain Significance
160234 rs34526305 GRCh37: 2:234669074-234669074
GRCh38: 2:233760428-233760428
23 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.540A>G (p.Glu180=) SNV Uncertain Significance
289602 rs148755655 GRCh37: 2:234669473-234669473
GRCh38: 2:233760827-233760827
24 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1428C>T (p.Pro476=) SNV Uncertain Significance
160235 rs28900406 GRCh37: 2:234681031-234681031
GRCh38: 2:233772385-233772385
25 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro) SNV Uncertain Significance
160240 rs57307513 GRCh37: 2:234669681-234669681
GRCh38: 2:233761035-233761035
26 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val) SNV Uncertain Significance
724578 rs200903749 GRCh37: 2:234675779-234675779
GRCh38: 2:233767133-233767133
27 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1075G>A (p.Asp359Asn) SNV Uncertain Significance
1301539 rs267599273 GRCh37: 2:234676573-234676573
GRCh38: 2:233767927-233767927
28 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.322C>T (p.Arg108Cys) SNV Uncertain Significance
160236 rs587784538 GRCh37: 2:234669255-234669255
GRCh38: 2:233760609-233760609
29 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1108A>G (p.Ile370Val) SNV Uncertain Significance
595091 rs748989741 GRCh37: 2:234676889-234676889
GRCh38: 2:233768243-233768243
30 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys) SNV Uncertain Significance
286999 rs143033456 GRCh37: 2:234680927-234680927
GRCh38: 2:233772281-233772281
31 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) SNV Uncertain Significance
160239 rs35003977 GRCh37: 2:234669607-234669607
GRCh38: 2:233760961-233760961
32 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.719G>A (p.Arg240Lys) SNV Uncertain Significance
1676207 GRCh37: 2:234669652-234669652
GRCh38: 2:233761006-233761006
33 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.200A>T (p.Tyr67Phe) SNV Uncertain Significance
1676205 GRCh37: 2:234669133-234669133
GRCh38: 2:233760487-233760487
34 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1022G>A (p.Arg341Gln) SNV Uncertain Significance
1428088 GRCh37: 2:234676520-234676520
GRCh38: 2:233767874-233767874
35 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1207C>T (p.Arg403Cys) SNV Uncertain Significance
498359 rs778766461 GRCh37: 2:234676988-234676988
GRCh38: 2:233768342-233768342
36 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1322T>C (p.Met441Thr) SNV Uncertain Significance
335082 rs202172337 GRCh37: 2:234680925-234680925
GRCh38: 2:233772279-233772279
37 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.300T>C (p.Phe100=) SNV Uncertain Significance
335080 rs374655757 GRCh37: 2:234669233-234669233
GRCh38: 2:233760587-233760587
38 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.*585G>T SNV Uncertain Significance
335087 rs886055800 GRCh37: 2:234681790-234681790
GRCh38: 2:233773144-233773144
39 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.294T>C (p.Asn98=) SNV Uncertain Significance
335079 rs138183896 GRCh37: 2:234669227-234669227
GRCh38: 2:233760581-233760581
40 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=) SNV Uncertain Significance
197147 rs139698110 GRCh37: 2:234676903-234676903
GRCh38: 2:233768257-233768257
41 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.*201G>A SNV Uncertain Significance
335083 rs541532523 GRCh37: 2:234681406-234681406
GRCh38: 2:233772760-233772760
42 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.477C>T (p.Ile159=) SNV Uncertain Significance
335081 rs199766420 GRCh37: 2:234669410-234669410
GRCh38: 2:233760764-233760764
43 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.25C>T (p.Arg9Cys) SNV Uncertain Significance
895439 rs370790922 GRCh37: 2:234668958-234668958
GRCh38: 2:233760312-233760312
44 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.361G>C (p.Ala121Pro) SNV Uncertain Significance
895502 rs1697515818 GRCh37: 2:234669294-234669294
GRCh38: 2:233760648-233760648
45 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.386A>G (p.His129Arg) SNV Uncertain Significance
594558 rs1191873899 GRCh37: 2:234669319-234669319
GRCh38: 2:233760673-233760673
46 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.*133G>A SNV Uncertain Significance
895638 rs561946796 GRCh37: 2:234681338-234681338
GRCh38: 2:233772692-233772692
47 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.*188T>G SNV Uncertain Significance
895639 rs200041554 GRCh37: 2:234681393-234681393
GRCh38: 2:233772747-233772747
48 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.*461G>T SNV Uncertain Significance
895706 rs142810023 GRCh37: 2:234681666-234681666
GRCh38: 2:233773020-233773020
49 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.*674G>A SNV Uncertain Significance
895991 rs1473113676 GRCh37: 2:234681879-234681879
GRCh38: 2:233773233-233773233
50 UGT1A, UGT1A10, UGT1A1, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 NM_000463.3(UGT1A1):c.142C>G (p.Gln48Glu) SNV Uncertain Significance
597578 rs747942373 GRCh37: 2:234669075-234669075
GRCh38: 2:233760429-233760429

UniProtKB/Swiss-Prot genetic disease variations for Gilbert Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 UGT1A1 p.Tyr486Asp VAR_007709 rs34993780
2 UGT1A1 p.Gly71Arg VAR_009504 rs4148323
3 UGT1A1 p.Pro229Gln VAR_009505 rs35350960
4 UGT1A1 p.Arg367Gly VAR_012283 rs55750087
5 UGT1A1 p.Phe83Leu VAR_026136 rs56059937
6 UGT1A1 p.Ile294Thr VAR_026139 rs72551347

Expression for Gilbert Syndrome

Search GEO for disease gene expression data for Gilbert Syndrome.

Pathways for Gilbert Syndrome



Pathways directly related to Gilbert Syndrome:

# Pathway Source
1 Defective UGT1A4 causes hyperbilirubinemia Reactome 66
2 Defective UGT1A1 causes hyperbilirubinemia Reactome 66

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

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 BLVRA DPYD G6PD GPT NAT2 SLCO1B1
2
Show member pathways
12.79 UGT2B7 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A1
3
Show member pathways
12.61 NAT2 TPMT UGT1A1 UGT1A10 UGT1A3 UGT1A4
4
Show member pathways
12.59 NAT2 SLCO1B1 TPMT UGT1A1 UGT1A10 UGT1A3
5 12.55 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
6
Show member pathways
12.22 SLCO1B1 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7
7
Show member pathways
12.19 UGT2B7 UGT1A4 UGT1A3 UGT1A1 SLCO1B1
8
Show member pathways
11.95 UGT1A4 UGT1A1 SLCO1B1 BLVRA
9 11.95 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A10
10
Show member pathways
11.85 UGT2B15 UGT1A9 UGT1A6 UGT1A10 UGT1A1 NAT2
11
Show member pathways
11.76 SLCO1B1 UGT1A1 UGT1A4 UGT1A6 UGT1A9
12
Show member pathways
11.46 UGT2B7 UGT1A8 UGT1A6 UGT1A3
13
Show member pathways
11.46 UGT2B7 UGT2B15 UGT1A9 UGT1A7 UGT1A1
14
Show member pathways
11.43 UGT2B7 UGT1A8 UGT1A3
15
Show member pathways
11.38 UGT2B7 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3
16 11.31 UGT1A4 UGT1A1 TPMT
17
Show member pathways
11.26 UGT2B7 UGT1A9 UGT1A4 UGT1A3
18
Show member pathways
11.22 UGT2B7 UGT2B15 UGT1A9 UGT1A4 UGT1A1
19 11.22 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3 UGT1A1
20
Show member pathways
11.16 UGT1A1 SLCO1B1
21 10.94 UGT2B7 UGT1A4 UGT1A3
22 10.85 GPT G6PD
23
Show member pathways
10.85 UGT1A1 UGT1A10 UGT1A4 UGT1A6 UGT1A8 UGT1A9
24
Show member pathways
10.73 UGT2B7 UGT1A1
25 10.7 UGT2B7 UGT1A9 UGT1A10
26 10.31 UGT1A8 UGT1A3

GO Terms for Gilbert Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.33 NAT2 SLC35A2 SLCO1B1 UGT1A1 UGT1A10 UGT1A3
2 membrane GO:0016021 10.33 NAT2 SLC35A2 SLCO1B1 UGT1A1 UGT1A10 UGT1A3
3 endoplasmic reticulum membrane GO:0005789 10 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
4 endoplasmic reticulum GO:0005783 9.66 UGT2B7 UGT2B15 UGT1A9 UGT1A8 UGT1A7 UGT1A6

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 liver development GO:0001889 10.26 UGT1A1 UGT1A10 UGT1A6 UGT1A7 UGT1A8 UGT1A9
2 lipid metabolic process GO:0006629 10.25 UGT2B7 UGT2B15 UGT1A9 UGT1A8 UGT1A7 UGT1A4
3 estrogen metabolic process GO:0008210 10.16 UGT2B7 UGT2B15 UGT1A7 UGT1A3 UGT1A1
4 steroid metabolic process GO:0008202 10.1 UGT2B7 UGT2B15 UGT1A8 UGT1A1
5 retinoic acid metabolic process GO:0042573 10.1 UGT1A1 UGT1A3 UGT1A7 UGT1A8 UGT1A9
6 xenobiotic glucuronidation GO:0052697 10.02 UGT1A9 UGT1A8 UGT1A7 UGT1A3 UGT1A1
7 heme catabolic process GO:0042167 10 UGT1A4 SLCO1B1 BLVRA
8 cellular glucuronidation GO:0052695 10 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
9 flavone metabolic process GO:0051552 9.96 UGT1A1 UGT1A10 UGT1A7 UGT1A8 UGT1A9
10 coumarin metabolic process GO:0009804 9.88 UGT1A8 UGT1A7
11 negative regulation of steroid metabolic process GO:0045939 9.87 UGT1A8 UGT1A1
12 bilirubin conjugation GO:0006789 9.85 UGT1A1 UGT1A4
13 flavonoid glucuronidation GO:0052696 9.85 UGT1A1 UGT1A3 UGT1A7 UGT1A8 UGT1A9
14 vitamin D3 metabolic process GO:0070640 9.84 UGT1A3 UGT1A4
15 negative regulation of fatty acid metabolic process GO:0045922 9.77 UGT1A8 UGT1A4 UGT1A10 UGT1A1
16 negative regulation of cellular glucuronidation GO:2001030 9.69 UGT1A4 UGT1A10 UGT1A1
17 negative regulation of glucuronosyltransferase activity GO:1904224 9.67 UGT1A4 UGT1A10 UGT1A1
18 xenobiotic metabolic process GO:0006805 9.62 NAT2 SLCO1B1 TPMT UGT1A1 UGT1A10 UGT1A3

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 10.4 DPYD G6PD UGT1A1 UGT1A10 UGT1A3 UGT1A4
2 enzyme binding GO:0019899 10.32 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
3 glucuronosyltransferase activity GO:0015020 10.2 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
4 transferase activity GO:0016740 10.17 GPT NAT2 TPMT UGT1A1 UGT1A10 UGT1A3
5 UDP-glycosyltransferase activity GO:0008194 10.07 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
6 enzyme inhibitor activity GO:0004857 9.91 UGT1A8 UGT1A7 UGT1A1
7 glycosyltransferase activity GO:0016757 9.7 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
8 retinoic acid binding GO:0001972 9.5 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7

Sources for Gilbert Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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