MCID: GLB001
MIFTS: 56

Gilbert Syndrome

Categories: Rare diseases, Metabolic diseases, Genetic diseases, Liver diseases

Aliases & Classifications for Gilbert Syndrome

MalaCards integrated aliases for Gilbert Syndrome:

Name: Gilbert Syndrome 12 50 24 25 54 71 14
Gilbert's Syndrome 12 25 29
Gilbert's Disease 12 50 25
Gilbert Disease 25 42 69
Gilbert Syndrome, Susceptibility to 29
Constitutional Hyperbilirubinemia 12
Unconjugated Benign Bilirubinemia 25
Hereditary Nonhemolytic Jaundice 12
Constitutional Liver Dysfunction 25
Familial Nonhemolytic Jaundice 25
Gilbert-Meulengracht Syndrome 12
Hyperbilirubinemia Arias Type 50
Gilbert-Lereboullet Syndrome 25
Hyperbilirubinemia Type 1 50
Hyperbilirubinemia Type I 24
Meulengracht Syndrome 25
Hyperbilirubinemia 1 25
Cholemia, Familial 50
Gilberts Syndrome 52
Rotor Syndrome 69
Gilbs 71

Characteristics:

OMIM:

54
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:

32
gilbert syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:2739
ICD10 33 E80.4
MeSH 42 D005878
NCIt 47 C84729
MedGen 40 C0017551
OMIM 54 143500
SNOMED-CT via HPO 65 258211005 18165001 7752002
UMLS 69 C0017551

Summaries for Gilbert Syndrome

Genetics Home Reference : 25 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.

MalaCards based summary : Gilbert Syndrome, also known as gilbert's syndrome, is related to crigler-najjar syndrome, type ii and hepatitis, and has symptoms including jaundice, unconjugated hyperbilirubinemia and icterus. An important gene associated with Gilbert Syndrome is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. The drugs Ritonavir and Zinc have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and eye, and related phenotype is Increased shRNA abundance (Z-score > 2).

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.

NIH Rare Diseases : 50 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: 3/15/2016

OMIM : 54
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)

UniProtKB/Swiss-Prot : 71 Gilbert syndrome: Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints.

Wikipedia : 72 Gilbert\'s syndrome (GS) is a mild liver disorder in which the liver does not properly process... 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 56)
id Related Disease Score Top Affiliating Genes
1 crigler-najjar syndrome, type ii 29.0 UGT1A1 UGT1A4 UGT1A6 UGT1A9
2 hepatitis 28.5 G6PD HP NT5C3A
3 crigler-najjar syndrome, type i 10.9
4 mental retardation with spastic paraplegia and palmoplantar hyperkeratosis 10.8
5 dyserythropoietic anemia, congenital, type iii 10.8
6 punctate epithelial keratoconjunctivitis 10.4 UGT1A1 UGT1A6
7 dihydropyrimidine dehydrogenase deficiency 10.3 UGT1A1 UGT1A6
8 spastic paraplegia 8 10.3 G6PD UGT1A1
9 dermatomyositis 10.3 UGT1A1 UGT1A6
10 larynx sarcoma 10.2 G6PD NT5C3A
11 endocrine pancreas disease 10.2 UGT1A3 UGT1A4
12 hemoglobin h disease, nondeletional 10.2 G6PD UGT1A1
13 sickle cell anemia 10.2 G6PD UGT1A1
14 kernicterus 10.1
15 raltegravir toxicity 10.0 SLCO1B1 UGT1A1 UGT1A7
16 hereditary spherocytosis 10.0
17 thalassemia-beta, dominant inclusion-body 10.0 UGT1A1 UGT1A6
18 glandular cystitis 9.9 G6PD SLCO1B1 UGT1A1
19 endometrial adenocarcinoma 9.9 HP UGT1A1
20 acute hydrops keratoconus 9.9 SLCO1B1 UGT1A1 UGT1A6
21 toxic labyrinthitis 9.9 G6PD HP
22 microphthalmia, syndromic 13 9.9 G6PD HP
23 premature menopause 9.8 G6PD HP
24 thalassemia 9.8
25 hypertrophic pyloric stenosis 9.8
26 pyloric stenosis 9.8
27 ovarian clear cell malignant adenofibroma 9.8 UGT1A1 UGT1A6
28 hyperbilirubinemia, familial transient neonatal 9.8 UGT1A1 UGT1A4 UGT1A6 UGT1A9
29 cholelithiasis 9.7
30 neonatal jaundice 9.7
31 adult malignant mesenchymoma 9.7 G6PD HP
32 geniculate ganglionitis 9.6 G6PD HP
33 hepatitis b 9.6
34 hemoglobinopathy 9.6
35 ischemic heart disease 9.6
36 intellectual disability 9.6
37 leukemia 9.6
38 endotheliitis 9.6
39 breast cancer 9.6
40 ulcerative colitis 9.6
41 colitis 9.6
42 aplastic anemia 9.6
43 scoliosis 9.6
44 cystic fibrosis 9.6
45 factor vii deficiency 9.6
46 lymphoblastic leukemia 9.6
47 kawasaki disease 9.6
48 heart disease 9.6
49 hemochromatosis 9.6
50 choledocholithiasis 9.6

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



Diseases related to Gilbert Syndrome

Symptoms & Phenotypes for Gilbert Syndrome

Symptoms via clinical synopsis from OMIM:

54

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

Human phenotypes related to Gilbert Syndrome:

32
id Description HPO Frequency HPO Source Accession
1 jaundice 32 HP:0000952
2 unconjugated hyperbilirubinemia 32 HP:0008282

UMLS symptoms related to Gilbert Syndrome:


icterus

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.87 NT5C3A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.87 NT5C3A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.87 NT5C3A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.87 UGT1A3 UGT1A4
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.87 NT5C3A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.87 UGT1A7
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.87 UGT1A4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.87 NT5C3A UGT1A3 UGT1A7
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.87 NT5C3A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.87 NT5C3A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.87 UGT1A7
12 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.87 NT5C3A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.87 UGT1A7 UGT1A3 UGT1A4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.87 UGT1A3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.87 NT5C3A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.87 UGT1A7
17 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.87 UGT1A7
18 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.87 UGT1A7
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.87 NT5C3A

Drugs & Therapeutics for Gilbert Syndrome

Drugs for Gilbert Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
2
Zinc Approved Phase 4 7440-66-6 32051 23994
3 Zinc sulfate Approved Phase 4 7733-02-0
4
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
5 Anti-HIV Agents Phase 4
6 Anti-Infective Agents Phase 4
7 Anti-Retroviral Agents Phase 4
8 Antiviral Agents Phase 4
9 Astringents Phase 4
10 Atazanavir Sulfate Phase 4
11
Bilirubin Phase 4 635-65-4 5280352
12 Cytochrome P-450 CYP3A Inhibitors Phase 4
13 Cytochrome P-450 Enzyme Inhibitors Phase 4
14 Dermatologic Agents Phase 4
15 HIV Protease Inhibitors Phase 4
16 Micronutrients Phase 4
17
protease inhibitors Phase 4
18 Trace Elements Phase 4
19 Cholagogues and Choleretics Phase 4
20 Gastrointestinal Agents Phase 4
21 N-Methylaspartate Phase 4
22 alanine Nutraceutical Phase 4
23 Aspartic Acid Nutraceutical Phase 4
24
Dopamine Approved Phase 3,Phase 1,Phase 2 51-61-6, 62-31-7 681
25 Dopamine Agents Phase 3,Phase 1,Phase 2
26 Dopamine agonists Phase 3
27 N 0437 Phase 3
28 Neurotransmitter Agents Phase 3,Phase 1,Phase 2
29
Menthol Approved Phase 2 2216-51-5 16666
30
Azacitidine Approved, Investigational Phase 1, Phase 2 320-67-2 9444
31 Ecopipam Investigational Phase 1, Phase 2 112108-01-7
32 Antipsychotic Agents Phase 1, Phase 2
33 Central Nervous System Depressants Phase 1, Phase 2
34 Dopamine Antagonists Phase 1, Phase 2
35 Psychotropic Drugs Phase 1, Phase 2
36 Tranquilizing Agents Phase 1, Phase 2
37 Detox adjuvant Phase 2
38 Antibodies Phase 1, Phase 2
39 Antimetabolites Phase 1, Phase 2
40 Antimetabolites, Antineoplastic Phase 1, Phase 2
41 Immunoglobulins Phase 1, Phase 2
42 Pharmaceutical Solutions Phase 1
43
Adenosine Approved, Investigational 58-61-7 60961

Interventional clinical trials:

(show all 15)

id Name Status NCT ID Phase Drugs
1 Atazanavir/Ritonavir and Zinc Pharmacokinetic Study Completed NCT01475227 Phase 4 1 Solvazinc tablet, day 2 to day 15;1 Solvazinc tablet, day 15 to day 28
2 The Role of Ursodeoxycholic Acid in Treatment of Gallstones in Hemolytic Disorders Terminated NCT02472509 Phase 4 Ursodeoxycholic Acid
3 Rotigotine Effect on All-day Functioning and Quality of Life in Subjects With Moderate to Severe Restless Legs Syndrome (RLS) Completed NCT01569464 Phase 3 Rotigotine
4 Study of Asimadoline to Treat Diarrhea-Predominant Irritable Bowel Syndrome (D-IBS) Completed NCT01100684 Phase 3 Asimadoline;Placebo
5 Ecopipam Treatment of Tourette Syndrome Completed NCT01244633 Phase 1, Phase 2 Ecopipam
6 Therapeutic Massage to Manage Withdrawal Related Anxiety Completed NCT00992979 Phase 2
7 Ecopipam Treatment of Tourette's Syndrome in Subjects 7-17 Years Active, not recruiting NCT02102698 Phase 2 Ecopipam
8 Study of Vadastuximab Talirine (SGN-CD33A; 33A) in Combination With Azacitidine in Patients With Previously Untreated Higher Risk MDS Suspended NCT02706899 Phase 1, Phase 2 vadastuximab talirine;Azacitidine;Placebo (for 33A)
9 Safety, Tolerability and Pharmacokinetics of Multiple Rising Doses of BI 201335 NA in Healthy Male Subjects Completed NCT02182362 Phase 1 BI 201335 NA;Placebo
10 Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia Completed NCT00383318
11 A Comparison of Two Caloric Supplements in the Prevention of Weight Loss in Patients With AIDS Who Take Daily Multivitamin and Mineral Supplements Completed NCT00001077
12 Treatment With Adenosine Diphosphate (ADP) Receptor Inhibitors: Longitudinal Assessment of Treatment Patterns and Events After Acute Coronary Syndrome Completed NCT01088503 ADP receptor inhibitors
13 Biomarker for Patients With Gilbert Disease Recruiting NCT02712138
14 The Computed Tomography-derived Fractional Flow Reserve STAT Trial Recruiting NCT03263806
15 Evaluate the Effectiveness and Cost of Stress Cardiac Magnetic Resonance Imaging (MRI) for Non-invasive Evaluation of Lesions Discovered on Computed Tomography Angiography (CCTA) Terminated NCT00538460

Search NIH Clinical Center for Gilbert Syndrome

Cochrane evidence based reviews: gilbert disease

Genetic Tests for Gilbert Syndrome

Genetic tests related to Gilbert Syndrome:

id Genetic test Affiliating Genes
1 Gilbert's Syndrome 29
2 Gilbert Syndrome, Susceptibility to 29
3 Gilbert Syndrome 24 UGT1A1

Anatomical Context for Gilbert Syndrome

MalaCards organs/tissues related to Gilbert Syndrome:

39
Liver, Skin, Eye, Testes, Heart, Breast, Endothelial

Publications for Gilbert Syndrome

Articles related to Gilbert Syndrome:

(show top 50) (show all 94)
id Title Authors Year
1
Frequency of the UGT1A1*28 Polymorphism in a Romanian Cohort of Gilbert Syndrome Individuals. ( 28338110 )
2017
2
Gilbert syndrome in patients with type 1 diabetes-Prevalence, glycemic control, and microalbuminuria. ( 28093842 )
2017
3
Oncology Drug Dosing in Gilbert Syndrome Associated with UGT1A1: A Summary of the Literature. ( 28494109 )
2017
4
Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia. ( 28321066 )
2017
5
Mixed Dubin-Gilbert Syndrome: A Compound Heterozygous Phenotype of Two Novel Variants in ABCC2 Gene. ( 28397734 )
2017
6
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases. ( 27108201 )
2016
7
Effectiveness of switching from oral ziprasidone to risperidone in a patient with comorbid autistic disorder, profound intellectual disability, Gilbert syndrome, and exacerbation of psychosis. ( 26938829 )
2016
8
Donor Safety and Recipient Liver Function After Right-Lobe Liver Transplantation From Living Donors With Gilbert Syndrome. ( 26707296 )
2015
9
Evaluation of aortic stiffness in Gilbert syndrome patients: a protective effect of elevated bilirubin levels. ( 26536984 )
2015
10
Protective effect of elevated bilirubin levels on cardiovascular disease in patients with Gilbert syndrome. ( 26536982 )
2015
11
Patterns and genetic polymorphisms in unconjugated hyperbilirubinemia (gilbert syndrome). ( 25646240 )
2015
12
Gilbert syndrome acts as a risk factor of developing gallstone among I^ hemoglobinopathy tunisian patients. ( 26375741 )
2015
13
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome. ( 26250421 )
2015
14
Scoliosis in a Patient With Gilbert Syndrome: A Case Report and Review of the Literature. ( 26632744 )
2015
15
Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening. ( 25855413 )
2015
16
Perfluorocarbons and Gilbert syndrome (phenotype) in the C8 Health Study Population. ( 25262077 )
2014
17
Coexistence of gilbert syndrome and hereditary spherocytosis in a child presenting with extreme jaundice. ( 25587528 )
2014
18
Pregnancy with gilbert syndrome - a case report. ( 25121033 )
2014
19
Role of co-inherited Gilbert syndrome on hyperbilirubinemia in Indian beta thalassemia patients. ( 24620945 )
2014
20
Relation between Neonatal Icter and Gilbert Syndrome in Gloucose-6-Phosphate Dehydrogenase Deficient Subjects. ( 24783083 )
2014
21
Gilbert syndrome increasing unconjugated hyperbilirubinemia in a child with hereditary spherocytosis. ( 22134611 )
2012
22
Severe jaundice in two children with Kawasaki disease: a possible association with Gilbert syndrome. ( 22219623 )
2012
23
Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects. ( 22325916 )
2012
24
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
25
Coexistence of Gilbert syndrome with hereditary haemolytic anaemias. ( 22554963 )
2012
26
Reduced circulating oxidized LDL is associated with hypocholesterolemia and enhanced thiol status in Gilbert syndrome. ( 22521902 )
2012
27
Gilbert syndrome redefined: a complex genetic haplotype influences the regulation of glucuronidation. ( 22213127 )
2012
28
Gilbert syndrome: the UGT1A1*28 promoter polymorphism as a biomarker of multifactorial diseases and drug metabolism. ( 22448797 )
2012
29
Gilbert syndrome. ( 22160004 )
2012
30
Right-lobe liver transplant from donors with Gilbert syndrome. ( 22309418 )
2012
31
Hyperbilirubinemia, augmentation of endothelial function, and decrease in oxidative stress in Gilbert syndrome. ( 22773454 )
2012
32
Snapback primer genotyping of the Gilbert syndrome UGT1A1 (TA)(n) promoter polymorphism by high-resolution melting. ( 21771946 )
2011
33
Prevalence of Gilbert syndrome in parents of neonates with pathologic indirect hyperbilirubinemia. ( 21403409 )
2011
34
Is Gilbert syndrome a new risk factor for breast cancer? ( 21636218 )
2011
35
Diagnosis and treatment difficulties in 18-year-old male patient with hereditary hemochromatosis, chronic hepatitis B, Gilbert syndrome and ulcerative colitis. ( 21633730 )
2011
36
Genetic variation in UGT1A1 typical of Gilbert syndrome is associated with unconjugated hyperbilirubinemia in patients receiving tocilizumab. ( 21412181 )
2011
37
Combined effect of regulatory polymorphisms on transcription of UGT1A1 as a cause of Gilbert syndrome. ( 20529348 )
2010
38
Gilbert syndrome in Iran, Fars Province. ( 20103965 )
2010
39
Gilbert syndrome as a predisposing factor for cholelithiasis risk in the Greek adult population. ( 19309288 )
2009
40
Gilbert syndrome, UGT1A1*28 allele, and cardiovascular disease risk: possible protective effects and therapeutic applications of bilirubin. ( 18343383 )
2008
41
''Iatrogenic Gilbert syndrome''--a strategy for reducing vascular and cancer risk by increasing plasma unconjugated bilirubin. ( 17825497 )
2007
42
Urinary excretion of oxidative metabolites of bilirubin in subjects with Gilbert syndrome. ( 17565639 )
2007
43
Gilbert syndrome in the newborn. ( 17990369 )
2007
44
Relationship between Gilbert syndrome and prevalence of vascular complications in patients with diabetes. ( 17895455 )
2007
45
Severe hyperbilirubinemia in a 10-year-old girl with a combined disorder of hereditary spherocytosis and Gilbert syndrome. ( 17587286 )
2007
46
Gilbert syndrome presenting in a young boy, confirmed by the rifampin test. ( 17877076 )
2007
47
Linkage between A(TA)7TAA and -3279T>G mutations in UGT1A1 is not essential for pathogenesis of Gilbert syndrome. ( 17105600 )
2006
48
Coinheritance of Gilbert syndrome-associated UGT1A1 mutation increases gallstone risk in cystic fibrosis. ( 16557566 )
2006
49
Liver transplantation using donors with Gilbert syndrome. ( 16858293 )
2006
50
Gilbert syndrome and the development of antiretroviral therapy-associated hyperbilirubinemia: genetic screening is unnecessary. ( 16652295 )
2006

Variations for Gilbert Syndrome

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

71
id 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

ClinVar genetic disease variations for Gilbert Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 UGT1A1 NM_000463.2(UGT1A1): c.1021C> T (p.Arg341Ter) single nucleotide variant Pathogenic rs72551349 GRCh37 Chromosome 2, 234676519: 234676519
2 UGT1A1 UGT1A1*6 single nucleotide variant drug response rs4148323 GRCh37 Chromosome 2, 234669144: 234669144
3 UGT1A1 NM_000463.2(UGT1A1): c.1198A> G (p.Asn400Asp) single nucleotide variant Pathogenic rs28934877 GRCh37 Chromosome 2, 234676979: 234676979

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 GeneCards Suite gene sharing:

(show all 19)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.84 G6PD NT5C3A SLCO1B1 UGT1A1 UGT1A3 UGT1A4
2
Show member pathways
13.03 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
3
Show member pathways
12.57 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
4
Show member pathways
12.41 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
5 12.41 G6PD UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7
6 11.86 G6PD UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7
7
Show member pathways
11.77 SLCO1B1 UGT1A1 UGT1A3 UGT1A9
8
Show member pathways
11.75 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A9
9
Show member pathways
11.62 UGT1A1 UGT1A3 UGT1A4 UGT1A7 UGT1A9
10
Show member pathways
11.57 UGT1A1 UGT1A4 UGT1A6 UGT1A9
11
Show member pathways
11.54 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
12
Show member pathways
11.44 SLCO1B1 UGT1A1
13
Show member pathways
11.3 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A9
14 11.22 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A9
15 11.11 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
16 11.1 UGT1A3 UGT1A4 UGT1A6 UGT1A9
17
Show member pathways
10.96 SLCO1B1 UGT1A1
18
Show member pathways
10.91 SLCO1B1 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7
19
Show member pathways
10.77 UGT1A4 UGT1A9

GO Terms for Gilbert Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.63 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
2 endoplasmic reticulum GO:0005783 9.5 NT5C3A UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7
3 intracellular membrane-bounded organelle GO:0043231 9.17 G6PD UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7

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

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.85 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
2 cellular glucuronidation GO:0052695 9.63 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
3 retinoic acid metabolic process GO:0042573 9.56 UGT1A1 UGT1A3 UGT1A7 UGT1A9
4 flavone metabolic process GO:0051552 9.5 UGT1A1 UGT1A7 UGT1A9
5 acute-phase response GO:0006953 9.48 HP UGT1A1
6 drug metabolic process GO:0017144 9.46 UGT1A1 UGT1A7
7 heme catabolic process GO:0042167 9.43 UGT1A1 UGT1A4
8 xenobiotic glucuronidation GO:0052697 9.43 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
9 bilirubin conjugation GO:0006789 9.4 UGT1A1 UGT1A4
10 flavonoid glucuronidation GO:0052696 8.92 UGT1A1 UGT1A3 UGT1A7 UGT1A9

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

id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.95 NT5C3A UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7
2 protein homodimerization activity GO:0042803 9.87 G6PD UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7
3 protein heterodimerization activity GO:0046982 9.85 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
4 transferase activity, transferring glycosyl groups GO:0016757 9.73 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
5 transferase activity, transferring hexosyl groups GO:0016758 9.63 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
6 enzyme inhibitor activity GO:0004857 9.43 UGT1A1 UGT1A7
7 glucuronosyltransferase activity GO:0015020 9.43 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
8 retinoic acid binding GO:0001972 9.1 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9

Sources for Gilbert Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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