GILBS
MCID: GLB001
MIFTS: 53

Gilbert Syndrome (GILBS)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Gilbert Syndrome

MalaCards integrated aliases for Gilbert Syndrome:

Name: Gilbert Syndrome 57 12 20 43 72 36 15 17 32
Gilbert's Syndrome 12 73 43 29 6
Gilbert's Disease 12 20 43
Gilbert Disease 43 44 70
Gilbert Syndrome, Susceptibility to 29 6
Hyperbilirubinemia, Gilbert Type; Hblrg 57
Constitutional Hyperbilirubinemia 12
Unconjugated Benign Bilirubinemia 43
Hyperbilirubinemia, Gilbert Type 57
Hereditary Nonhemolytic Jaundice 12
Constitutional Liver Dysfunction 43
Hyperbilirubinemia, Arias Type 57
Familial Nonhemolytic Jaundice 43
Gilbert-Meulengracht Syndrome 12
Hyperbilirubinemia Arias Type 20
Gilbert-Lereboullet Syndrome 43
Hyperbilirubinemia Type 1 20
Meulengracht Syndrome 43
Hyperbilirubinemia I 57
Hyperbilirubinemia 1 43
Cholemia, Familial 20
Gilberts Syndrome 54
Syndrome, Gilbert 39
Hblrg 57
Gilbs 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
gilbert syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:2739
OMIM® 57 143500
OMIM Phenotypic Series 57 PS237450
KEGG 36 H02055
MeSH 44 D005878
NCIt 50 C84729
SNOMED-CT 67 27503000
ICD10 32 E80.4
MedGen 41 C0017551
UMLS 70 C0017551

Summaries for Gilbert Syndrome

GARD : 20 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 mutations in the UGT1A1 gene and inheritance is autosomal recessive. Mutations 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. Treatment for Gilbert syndrome is usually not needed because in most cases it does not cause symptoms. People with Gilbert syndrome have a normal life expectancy. Of note, mutations 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 life-threatening 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 mutation present is sometimes needed for the correct diagnosis.

MalaCards based summary : Gilbert Syndrome, also known as gilbert's syndrome, is related to crigler-najjar syndrome, type ii and neonatal jaundice. An important gene associated with Gilbert Syndrome is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1), and among its related pathways/superpathways are Porphyrin and chlorophyll metabolism and Metabolism. Affiliated tissues include liver, breast and bone, and related phenotypes are dehydration and jaundice

Disease Ontology : 12 A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.

MedlinePlus Genetics : 43 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 05-Apr-2021)

KEGG : 36 Gilbert syndrome is the mild form of hereditary unconjugated hyperbilirubinemia. It is caused by mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1), which is essential for biliary excretion of bilirubin.

UniProtKB/Swiss-Prot : 72 Gilbert syndrome: Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints.

Wikipedia : 73 Gilbert's syndrome (GS) is a mild liver disorder in which the liver does not properly process bilirubin.... 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 163)
# Related Disease Score Top Affiliating Genes
1 crigler-najjar syndrome, type ii 32.2 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 neonatal jaundice 31.0 UGT1A1 SLCO1B1 HMOX1 G6PD
3 glucosephosphate dehydrogenase deficiency 30.8 UGT1A8 UGT1A6 UGT1A1 SLCO1B1 G6PD
4 cholelithiasis 30.8 UGT1A8 UGT1A6 UGT1A3 UGT1A1 GPT
5 hereditary spherocytosis 30.7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
6 bilirubin metabolic disorder 30.7 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5
7 neutropenia 30.3 UGT1A1 TPMT GPT DPYD
8 crigler-najjar syndrome, type i 30.3 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5
9 drug-induced hepatitis 30.3 UGT1A3 UGT1A1 NAT2 GPT
10 gallbladder disease 30.3 UGT1A8 UGT1A6 UGT1A1 GPT
11 sickle cell disease 30.2 UGT1A1 HMOX1 G6PD
12 choledocholithiasis 30.2 UGT1A1 GPT
13 kernicterus 30.1 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
14 sickle cell anemia 30.1 UGT1A8 UGT1A6 UGT1A10 UGT1A1 HMOX1 GPT
15 bilirubin, serum level of, quantitative trait locus 1 30.0 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
16 hyperbilirubinemia, transient familial neonatal 30.0 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
17 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis 11.2
18 anemia, congenital dyserythropoietic, type iii 11.0
19 hyperbilirubinemia, shunt, primary 11.0
20 epicardium cancer 10.4 UGT1A8 UGT1A1
21 blood group incompatibility 10.4 UGT1A8 UGT1A1 G6PD
22 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.4 UGT1A8 UGT1A6 UGT1A1
23 pericholangitis 10.4 UGT1A7 UGT1A5 UGT1A3 UGT1A10
24 urogenital tuberculosis 10.4 UGT1A SLC35A2
25 dihydropyrimidine dehydrogenase deficiency 10.4 UGT1A8 UGT1A6 UGT1A1 DPYD
26 acetaminophen metabolism 10.3 UGT1A9 UGT1A6 UGT1A3 UGT1A10 UGT1A1
27 trimethoprim allergy 10.3 NAT2 G6PD
28 pigmentation disease 10.3 UGT1A8 UGT1A6 UGT1A1 SLCO1B1 G6PD
29 inherited metabolic disorder 10.3 UGT1A8 UGT1A6 UGT1A1 GPT
30 hemolytic anemia 10.3
31 thalassemia 10.3
32 severe cutaneous adverse reaction 10.3 UGT2B7 TPMT GPT
33 thiopurines, poor metabolism of, 1 10.3 UGT1A8 UGT1A6 UGT1A1 TPMT SLCO1B1 DPYD
34 methotrexate toxicity 10.3 SLCO1B1 GPT
35 splenomegaly 10.2
36 gallbladder disease 1 10.2
37 drug allergy 10.2 TPMT GPT
38 dubin-johnson syndrome 10.2
39 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 10.2
40 porphyria 10.1
41 hemochromatosis, type 1 10.1
42 deficiency anemia 10.1
43 hypertrophic pyloric stenosis 10.1
44 pyloric stenosis 10.1
45 acne 10.1
46 hyperbilirubinemia, rotor type 10.1
47 encephalopathy 10.1
48 rheumatic heart disease 10.0
49 beta-thalassemia 10.0
50 cholestasis 10.0

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:

31
# Description HPO Frequency HPO Source Accession
1 dehydration 31 HP:0001944
2 jaundice 31 HP:0000952
3 unconjugated hyperbilirubinemia 31 HP:0008282

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.32 UGT1A4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-147 9.32 UGT1A3 UGT1A7
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.32 UGT1A7
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.32 UGT1A4 UGT1A7
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.32 UGT1A3 UGT1A4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.32 UGT1A3 UGT1A4

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's Syndrome 29 UGT1A1
2 Gilbert Syndrome, Susceptibility to 29

Anatomical Context for Gilbert Syndrome

MalaCards organs/tissues related to Gilbert Syndrome:

40
Liver, Breast, Bone, Heart, Endothelial, Eye, Brain

Publications for Gilbert Syndrome

Articles related to Gilbert Syndrome:

(show top 50) (show all 941)
# Title Authors PMID Year
1
Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter. 6 54 57 61
17496722 2007
2
Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia. 57 6 54 61
11906189 2002
3
Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects. 6 57 61 54
11003624 2000
4
A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene. 61 57 6 54
10412811 1999
5
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. 54 61 6 57
7565971 1995
6
Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. 54 61 6 57
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. 61 54 6
18004206 2007
8
Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome. 6 54 61
15378351 2004
9
Correlation of mutational analysis to clinical features in Taiwanese patients with Gilbert's syndrome. 61 54 57
11316168 2001
10
Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene. 6 61 54
11061796 2000
11
Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn. 6 61 54
10190918 1999
12
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? 6 61 54
9653159 1998
13
Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome. 61 6 54
9375768 1997
14
Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia. 54 6 61
9342374 1997
15
Pharmacogenetics of Gilbert's syndrome. 61 57
18518849 2008
16
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. 6 61
14616765 2003
17
The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. 61 6
12850492 2003
18
Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates. 61 6
10968441 2000
19
Intermittent jaundice in patients with acute leukaemia: a common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians. 61 6
10472535 1999
20
Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese. 61 6
9929972 1999
21
Gilbert's syndrome--a legitimate genetic anomaly? 61 57
7565981 1995
22
A nonhuman primate model of Gilbert's syndrome. 61 57
6706295 1984
23
Polymorphic acetylation and aminopyrine demethylation in Gilbert's syndrome. 57 61
100326 1978
24
Population studies on Gilbert's syndrome. 57 61
1142378 1975
25
Constitutional hepatic dysfunction (Gilbert's syndrome). A new definition based on kinetic studies with unconjugated radiobilirubin. 61 57
5455561 1970
26
Treatment of Gilbert's syndrome with phenobarbitone. 61 57
4195058 1970
27
Hepatic bilirubin udp-glucuronyl transferase activity in liver disease and gilbert's syndrome. 57 61
5770050 1969
28
Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families. 61 57
6054997 1967
29
Diagnostic criteria and contributors to Gilbert's syndrome. 61 20
29390925 2018
30
Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding. 6
23014115 2013
31
Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations. 6
19243019 2009
32
Global gene expression as a function of germline genetic variation. 6
15857854 2005
33
Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. 6
16114182 2005
34
Pharmacogenetics and drug development: the path to safer and more effective drugs. 6
15372086 2004
35
UDP-glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia. 6
12859413 2003
36
Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome. 6
12402338 2002
37
Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. 6
11425418 2001
38
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. 6
11370628 2001
39
Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese. 6
9784835 1998
40
UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. 6
9446675 1998
41
Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II. 6
9621515 1998
42
Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2. 6
8276413 1993
43
A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. 6
8514037 1993
44
The cDNA sequence and expression of a variant 17 beta-hydroxysteroid UDP-glucuronosyltransferase. 6
1692835 1990
45
Crigler-Najjar type II disease inheritance: a family study. 57
2515370 1989
46
The molecular weights of UDP-glucuronyltransferase determined with radiation-inactivation analysis. A molecular model of bilirubin UDP-glucuronyltransferase. 6
6480579 1984
47
Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity. 57
4897277 1969
48
Gilbert's disease and the bilirubin tolerance test. 57
6017546 1967
49
Nonhemolytic unconjugated hyperbilirubinemia with hepatic glucuronyl transferase deficiency: a genetic study in four generations. 57
6082246 1967
50
DEFECTS IN HEPATIC TRANSPORT OF BILIRUBIN IN CONGENITAL HYPERBILIRUBINAEMIA: AN ANALYSIS OF PLASMA BILIRUBIN DISAPPEARANCE CURVES. 57
14220904 1964

Variations for Gilbert Syndrome

ClinVar genetic disease variations for Gilbert Syndrome:

6 (show top 50) (show all 63)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter) SNV Affects 12269 rs72551349 GRCh37: 2:234676519-234676519
GRCh38: 2:233767873-233767873
2 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6061C>A 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_001072.4(UGT1A6):c.1195A>G (p.Asn399Asp) SNV Affects 12286 rs28934877 GRCh37: 2:234676979-234676979
GRCh38: 2:233768333-233768333
4 UGT1A1 , UGT1A , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 UGT1A1*28 Microsatellite Pathogenic, other 12275 rs3064744 GRCh37: 2:234668881-234668881
GRCh38: 2:233760233-233760234
5 UGT1A1 , UGT1A , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6799_862-6798insTA Insertion Pathogenic 594666 rs1559406508 GRCh37: 2:234668881-234668882
GRCh38: 2:233760235-233760236
6 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1453T>G (p.Tyr485Asp) SNV Pathogenic 12281 rs34993780 GRCh37: 2:234681059-234681059
GRCh38: 2:233772413-233772413
7 SLCO1B1 NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) SNV Pathogenic 37346 rs4149056 GRCh37: 12:21331549-21331549
GRCh38: 12:21178615-21178615
8 UGT1A1 , UGT1A , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 UGT1A1*28 Microsatellite Pathogenic 12275 rs3064744 GRCh37: 2:234668881-234668881
GRCh38: 2:233760233-233760234
9 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu) SNV Likely pathogenic 212543 rs34946978 GRCh37: 2:234676872-234676872
GRCh38: 2:233768226-233768226
10 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1453T>G (p.Tyr485Asp) SNV Likely pathogenic 12281 rs34993780 GRCh37: 2:234681059-234681059
GRCh38: 2:233772413-233772413
11 UGT1A1 , UGT1A , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-10021T>G SNV risk factor 12288 rs4124874 GRCh37: 2:234665659-234665659
GRCh38: 2:233757013-233757013
12 UGT1A1 , UGT1A , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-10021T>G SNV Likely pathogenic 12288 rs4124874 GRCh37: 2:234665659-234665659
GRCh38: 2:233757013-233757013
13 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
14 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu) SNV Uncertain significance 212543 rs34946978 GRCh37: 2:234676872-234676872
GRCh38: 2:233768226-233768226
15 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1204C>T (p.Arg402Cys) SNV Uncertain significance 498359 rs778766461 GRCh37: 2:234676988-234676988
GRCh38: 2:233768342-233768342
16 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1321C>T (p.Arg441Cys) SNV Uncertain significance 286999 rs143033456 GRCh37: 2:234680927-234680927
GRCh38: 2:233772281-233772281
17 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1319T>C (p.Met440Thr) SNV Uncertain significance 335082 rs202172337 GRCh37: 2:234680925-234680925
GRCh38: 2:233772279-233772279
18 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6447T>C SNV Uncertain significance 335080 rs374655757 GRCh37: 2:234669233-234669233
GRCh38: 2:233760587-233760587
19 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.*585G>T SNV Uncertain significance 335087 rs886055800 GRCh37: 2:234681790-234681790
GRCh38: 2:233773144-233773144
20 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6073T>G SNV Uncertain significance 160239 rs35003977 GRCh37: 2:234669607-234669607
GRCh38: 2:233760961-233760961
21 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6453T>C SNV Uncertain significance 335079 rs138183896 GRCh37: 2:234669227-234669227
GRCh38: 2:233760581-233760581
22 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1119T>C (p.Gly373=) SNV Uncertain significance 197147 rs139698110 GRCh37: 2:234676903-234676903
GRCh38: 2:233768257-233768257
23 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.*201G>A SNV Uncertain significance 335083 rs541532523 GRCh37: 2:234681406-234681406
GRCh38: 2:233772760-233772760
24 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6270C>T SNV Uncertain significance 335081 rs199766420 GRCh37: 2:234669410-234669410
GRCh38: 2:233760764-233760764
25 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.25C>T (p.Arg9Cys) SNV Uncertain significance 895439 GRCh37: 2:234668958-234668958
GRCh38: 2:233760312-233760312
26 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6421T>C SNV Uncertain significance 289882 rs144217005 GRCh37: 2:234669259-234669259
GRCh38: 2:233760613-233760613
27 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.361G>C (p.Ala121Pro) SNV Uncertain significance 895502 GRCh37: 2:234669294-234669294
GRCh38: 2:233760648-233760648
28 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6361A>G SNV Uncertain significance 594558 rs1191873899 GRCh37: 2:234669319-234669319
GRCh38: 2:233760673-233760673
29 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.*133G>A SNV Uncertain significance 895638 GRCh37: 2:234681338-234681338
GRCh38: 2:233772692-233772692
30 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.*188T>G SNV Uncertain significance 895639 GRCh37: 2:234681393-234681393
GRCh38: 2:233772747-233772747
31 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.*461G>T SNV Uncertain significance 895706 GRCh37: 2:234681666-234681666
GRCh38: 2:233773020-233773020
32 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.*674G>A SNV Uncertain significance 895991 GRCh37: 2:234681879-234681879
GRCh38: 2:233773233-233773233
33 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6606C>T SNV Uncertain significance 160234 rs34526305 GRCh37: 2:234669074-234669074
GRCh38: 2:233760428-233760428
34 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6605C>G SNV Uncertain significance 597578 rs747942373 GRCh37: 2:234669075-234669075
GRCh38: 2:233760429-233760429
35 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6207A>G SNV Uncertain significance 289602 rs148755655 GRCh37: 2:234669473-234669473
GRCh38: 2:233760827-233760827
36 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6170G>A SNV Uncertain significance 290430 rs375974892 GRCh37: 2:234669510-234669510
GRCh38: 2:233760864-233760864
37 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.1180T>C (p.Phe394Leu) SNV Uncertain significance 895576 GRCh37: 2:234676961-234676961
GRCh38: 2:233768315-233768315
38 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6580A>C SNV Uncertain significance 596451 rs140365717 GRCh37: 2:234669100-234669100
GRCh38: 2:233760454-233760454
39 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-6558C>T SNV Uncertain significance 500144 rs191471887 GRCh37: 2:234669122-234669122
GRCh38: 2:233760476-233760476
40 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.584G>A (p.Arg195Lys) SNV Uncertain significance 897407 GRCh37: 2:234669517-234669517
GRCh38: 2:233760871-233760871
41 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.1410C>T (p.Gly470=) SNV Uncertain significance 896983 GRCh37: 2:234681013-234681013
GRCh38: 2:233772367-233772367
42 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.1411G>A (p.Ala471Thr) SNV Uncertain significance 897467 GRCh37: 2:234681014-234681014
GRCh38: 2:233772368-233772368
43 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.1425C>T (p.Pro475=) SNV Uncertain significance 160235 rs28900406 GRCh37: 2:234681031-234681031
GRCh38: 2:233772385-233772385
44 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.1518C>A (p.Thr506=) SNV Uncertain significance 897468 GRCh37: 2:234681121-234681121
GRCh38: 2:233772475-233772475
45 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.*269C>T SNV Uncertain significance 897054 GRCh37: 2:234681474-234681474
GRCh38: 2:233772828-233772828
46 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.*301G>A SNV Uncertain significance 897537 GRCh37: 2:234681506-234681506
GRCh38: 2:233772860-233772860
47 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_000463.3(UGT1A1):c.288G>A (p.Gly96=) SNV Uncertain significance 897334 GRCh37: 2:234669221-234669221
GRCh38: 2:233760575-233760575
48 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-5999T>C SNV Uncertain significance 160240 rs57307513 GRCh37: 2:234669681-234669681
GRCh38: 2:233761035-233761035
49 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-5909T>G SNV Uncertain significance 595180 rs754213125 GRCh37: 2:234669771-234669771
GRCh38: 2:233761125-233761125
50 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

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

72
# 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 related to Gilbert Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Porphyrin and chlorophyll metabolism hsa00860

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

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.15 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5
2
Show member pathways
13.31 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5
3 12.67 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
4 12.27 UGT2B7 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A3
5
Show member pathways
12.18 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5
6
Show member pathways
12.17 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5
7
Show member pathways
12.05 UGT2B7 UGT1A9 UGT1A3 UGT1A1 SLCO1B1
8
Show member pathways
11.95 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3 UGT1A10
9
Show member pathways
11.93 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5
10
Show member pathways
11.93 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5
11
Show member pathways
11.92 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5
12
Show member pathways
11.85 UGT1A4 UGT1A3 SLCO1B1
13 11.85 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5
14
Show member pathways
11.83 UGT2B7 UGT1A9 UGT1A8 UGT1A3 UGT1A10 UGT1A1
15
Show member pathways
11.79 UGT2B7 UGT1A9 UGT1A6 UGT1A4 UGT1A1
16
Show member pathways
11.79 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4
17 11.69 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A3 UGT1A1
18
Show member pathways
11.56 UGT2B7 UGT1A8 UGT1A4 UGT1A3 UGT1A10
19
Show member pathways
11.51 UGT2B7 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3
20 11.46 UGT1A9 UGT1A6 UGT1A4 UGT1A3 UGT1A1
21
Show member pathways
11.44 UGT2B7 UGT1A9 UGT1A7 UGT1A1
22 11.05 UGT2B7 UGT1A9 UGT1A4 UGT1A3
23 10.97 UGT2B7 UGT1A4 UGT1A3
24 10.83 GPT G6PD
25
Show member pathways
10.83 UGT2B7 UGT1A3 UGT1A1
26 10.74 UGT2B7 UGT1A9 UGT1A10

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 10.13 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5
2 integral component of membrane GO:0016021 10 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5
3 endoplasmic reticulum GO:0005783 9.73 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5
4 endoplasmic reticulum membrane GO:0005789 9.36 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 xenobiotic glucuronidation GO:0052697 9.81 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 estrogen metabolic process GO:0008210 9.8 UGT2B7 UGT1A7 UGT1A3 UGT1A1
3 drug metabolic process GO:0017144 9.78 UGT1A8 UGT1A7 UGT1A1 TPMT
4 steroid metabolic process GO:0008202 9.75 UGT2B7 UGT1A8 UGT1A1
5 xenobiotic metabolic process GO:0006805 9.74 UGT1A9 UGT1A6 NAT2
6 negative regulation of catalytic activity GO:0043086 9.73 UGT1A8 UGT1A7 UGT1A1
7 retinoic acid metabolic process GO:0042573 9.72 UGT1A9 UGT1A8 UGT1A7 UGT1A3 UGT1A1
8 negative regulation of fatty acid metabolic process GO:0045922 9.71 UGT1A8 UGT1A4 UGT1A10 UGT1A1
9 heme catabolic process GO:0042167 9.67 UGT1A4 UGT1A1 HMOX1 BLVRA
10 flavone metabolic process GO:0051552 9.65 UGT1A9 UGT1A8 UGT1A7 UGT1A10 UGT1A1
11 negative regulation of cellular glucuronidation GO:2001030 9.63 UGT1A4 UGT1A10 UGT1A1
12 negative regulation of glucuronosyltransferase activity GO:1904224 9.61 UGT1A4 UGT1A10 UGT1A1
13 flavonoid glucuronidation GO:0052696 9.61 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
14 coumarin metabolic process GO:0009804 9.55 UGT1A8 UGT1A7
15 vitamin D3 metabolic process GO:0070640 9.54 UGT1A4 UGT1A3
16 negative regulation of steroid metabolic process GO:0045939 9.52 UGT1A8 UGT1A1
17 bilirubin conjugation GO:0006789 9.51 UGT1A4 UGT1A1
18 cellular glucuronidation GO:0052695 9.28 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.22 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5
2 protein homodimerization activity GO:0042803 10.06 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
3 protein heterodimerization activity GO:0046982 10.03 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
4 enzyme binding GO:0019899 10.02 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
5 transferase activity, transferring glycosyl groups GO:0016757 9.96 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5
6 retinoic acid binding GO:0001972 9.81 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4
7 glucuronosyltransferase activity GO:0015020 9.65 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5
8 enzyme inhibitor activity GO:0004857 9.63 UGT1A8 UGT1A7 UGT1A1
9 UDP-glycosyltransferase activity GO:0008194 9.32 UGT2B7 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5

Sources for Gilbert Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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