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MCID: BLR008
MIFTS: 54

Bilirubin Metabolic Disorder

Categories: Blood diseases, Metabolic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Bilirubin Metabolic Disorder

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MalaCards integrated aliases for Bilirubin Metabolic Disorder:

Name: Bilirubin Metabolic Disorder 12 15
Hyperbilirubinemia 12 77 38 30 56 6 45 15 74
Hyperbilirubinemia, Hereditary 45 74
Hereditary Hyperbilirubinemia 12
Hyperbilirubinaemia 12

Classifications:

MalaCards categories:
Global: Metabolic diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:2741
KEGG 38 H00208
NCIt 51 C84761
SNOMED-CT 69 14783006 20505009
ICD10 34 E80.6
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Summaries for Bilirubin Metabolic Disorder

About this section
Disease Ontology : 12 An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.

MalaCards based summary : Bilirubin Metabolic Disorder, also known as hyperbilirubinemia, is related to hyperbilirubinemia, rotor type and crigler-najjar syndrome, type i, and has symptoms including muscle weakness, polydipsia and icterus. An important gene associated with Bilirubin Metabolic Disorder is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1), and among its related pathways/superpathways are Porphyrin and chlorophyll metabolism and ABC transporters. The drugs carbamide peroxide and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, breast and heart.

Wikipedia : 77 Bilirubin is a yellow compound that occurs in the normal catabolic pathway that breaks down heme in... more...

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Related Diseases for Bilirubin Metabolic Disorder

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Diseases related to Bilirubin Metabolic Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 279)
# Related Disease Score Top Affiliating Genes
1 hyperbilirubinemia, rotor type 34.5 ABCC2 ALB SLCO1B1
2 crigler-najjar syndrome, type i 31.9 SLC35A2 UGT1A UGT1A1 UGT1A6
3 obstructive jaundice 31.7 ALB F2 GGT1 GPT SLC17A5
4 gilbert syndrome 31.5 G6PD SLCO1B1 UGT1A1 UGT1A6 UGT1A7 UGT1A8
5 crigler-najjar syndrome, type ii 31.3 UGT1A UGT1A1 UGT1A6 UGT1A7 UGT1A8
6 kernicterus 30.8 ALB G6PD UGT1A1 UGT1A6
7 glucosephosphate dehydrogenase deficiency 30.6 G6PD HP SLCO1B1 UGT1A1
8 hepatitis a 30.5 ALB F2 GPT
9 bilirubin, serum level of, quantitative trait locus 1 30.4 UGT1A1 UGT1A6 UGT1A7 UGT1A8
10 neonatal jaundice 30.3 G6PD HMOX1 NR1I3 SLCO1B1 UGT1A1
11 cholestasis 30.1 ABCC2 F2 GGT1 GPT NR1I3 SLCO1B1
12 cholelithiasis 30.1 ALB GPT UGT1A1 UGT1A6
13 nonalcoholic steatohepatitis 30.0 F2 GPT SLC17A5
14 hepatic coma 30.0 ALB F2 GPT
15 sickle cell anemia 30.0 F2 G6PD UGT1A1 UGT1A6
16 cholecystitis 30.0 ALB F2 GPT HP
17 infantile liver failure syndrome 1 30.0 ALB F2 GPT SLC17A5
18 hepatitis e 30.0 ALB F2 GPT
19 alpha-thalassemia 29.9 G6PD HP UGT1A1
20 hepatitis 29.8 F2 GGT1 GPT SLC17A5
21 cholangitis 29.7 ALB F2 GGT1 GPT HP
22 cholangitis, primary sclerosing 29.7 ALB GGT1 GPT
23 acute liver failure 29.6 ALB F2 GPT SLC17A5
24 deficiency anemia 29.5 ALB G6PD HP
25 alcoholic hepatitis 29.5 ADAMTS13 ALB F2 GPT SLC17A5
26 viral hepatitis 29.4 ALB F2 GGT1 GPT SLC17A5
27 liver disease 29.4 ALB F2 GGT1 GPT SLC17A5
28 malaria 29.2 ADAMTS13 ALB G6PD HMOX1 HP
29 hepatitis b 29.1 ALB F2 GGT1 GPT SLC17A5
30 liver cirrhosis 29.1 ALB F2 GGT1 GPT SLC17A5
31 hyperbilirubinemia, shunt, primary 12.4
32 hyperbilirubinemia, conjugated, type iii 12.1
33 chronic bilirubin encephalopathy 11.5
34 dubin-johnson syndrome 11.5
35 liver failure, infantile, transient 11.3
36 congenital intrauterine infection-like syndrome 11.2
37 bamforth syndrome 11.2
38 cryohydrocytosis 11.0
39 biliary atresia, extrahepatic 11.0
40 bile acid synthesis defect, congenital, 1 11.0
41 stomatin-deficient cryohydrocytosis with neurologic defects 11.0
42 obesity, early-onset, with adrenal insufficiency and red hair 11.0
43 congenital toxoplasmosis 11.0
44 antipyrine metabolism 10.4 ALB F2
45 non-a-e hepatitis 10.4 ALB F2
46 hepatoportal sclerosis 10.4 F2 GPT
47 epstein-barr virus hepatitis 10.4 ALB F2
48 fournier gangrene 10.3 ALB F2
49 heme oxygenase 1 deficiency 10.3 HMOX1 HP
50 abdominal tuberculosis 10.3 ALB F2

Graphical network of the top 20 diseases related to Bilirubin Metabolic Disorder:



Diseases related to Bilirubin Metabolic Disorder
Sources

Symptoms & Phenotypes for Bilirubin Metabolic Disorder

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UMLS symptoms related to Bilirubin Metabolic Disorder:


muscle weakness, polydipsia, icterus, jaundice (not of newborn)
Sources

Drugs & Therapeutics for Bilirubin Metabolic Disorder

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Drugs for Bilirubin Metabolic Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved Phase 1, Phase 2 124-43-6
2 Liver Extracts Phase 1, Phase 2
3
Acetylcholine Approved, Investigational Not Applicable 51-84-3 187
4
Orlistat Approved, Investigational Not Applicable 96829-58-2 3034010
5
Iron Approved, Experimental 7439-89-6, 15438-31-0 27284 23925
6 Botulinum Toxins, Type A Not Applicable
7 Acetylcholine Release Inhibitors Not Applicable
8 abobotulinumtoxinA Not Applicable
9 Neuromuscular Agents Not Applicable
10 Neurotransmitter Agents Not Applicable
11 Peripheral Nervous System Agents Not Applicable
12 Cholinergic Agents Not Applicable
13 Botulinum Toxins Not Applicable
14 Lipid Regulating Agents Not Applicable
15
Bilirubin Not Applicable 635-65-4, 69853-43-6 21252250 5280352
16 Anti-Obesity Agents Not Applicable
17 Hematinics

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Safety Study of HepaStem for the Treatment of Urea Cycle Disorders (UCD) and Crigler-Najjar Syndrome (CN) Completed NCT01765283 Phase 1, Phase 2
2 Gene Therapy for Severe Crigler Najjar Syndrome Recruiting NCT03466463 Phase 1, Phase 2
3 Gene Transfer Clinical Study in Crigler-Najjar Syndrome Recruiting NCT03223194 Phase 1, Phase 2
4 New Phototherapy Device to Treat Patients With Crigler-Najjar Disease Unknown status NCT02356978 Not Applicable
5 Long-term Safety Follow-up Study of Patients Having Received HepaStem (SAF001) Unknown status NCT02051049
6 Comparison of Biofeedback vs. Botox Injection to Treat Levator Ani Syndrome Unknown status NCT00564707 Not Applicable
7 Orlistat Treatment of Crigler-Najjar Disease Completed NCT00461799 Not Applicable orlistat
8 Clinical Assessment Study in Crigler-Najjar Syndrome Completed NCT03078881
9 Immunity Against AAV in Crigler Najjar Patient Completed NCT02302690
10 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care
11 Biomarker for Gilbert Disease (BioGilbert) Recruiting NCT02712138
12 HepaStem Long-Term Safety Registry Not yet recruiting NCT03343756

Search NIH Clinical Center for Bilirubin Metabolic Disorder

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: hyperbilirubinemia

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Genetic Tests for Bilirubin Metabolic Disorder

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Genetic tests related to Bilirubin Metabolic Disorder:

# Genetic test Affiliating Genes
1 Hyperbilirubinemia 30
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Anatomical Context for Bilirubin Metabolic Disorder

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MalaCards organs/tissues related to Bilirubin Metabolic Disorder:

42
Liver, Breast, Heart, Testes, Brain, Bone, Myeloid
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Publications for Bilirubin Metabolic Disorder

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Articles related to Bilirubin Metabolic Disorder:

(show top 50) (show all 1944)
# Title Authors Year
1
Relationship research between auditory neuropathy spectrum disorder and exchange transfusion in neonates with severe hyperbilirubinemia. ( 31103744 )
2019
2
Relevance of Preoperative Hyperbilirubinemia in Patients Undergoing Hepatobiliary Resection for Hilar Cholangiocarcinoma. ( 30959757 )
2019
3
Clinical Value of Inflammation-Based Prognostic Scores to Predict the Resectability of Hyperbilirubinemia Patients with Potentially Resectable Hilar Cholangiocarcinoma. ( 30076591 )
2019
4
Hemoadsorption in isolated conjugated hyperbilirubinemia after extracorporeal membrane oxygenation support. Cholestasis of sepsis: A case report and review of the literature on differential causes of jaundice in ICU patient. ( 30919732 )
2019
5
EBV-related Cold Agglutinin Disease Presenting With Conjugated Hyperbilirubinemia: A Pediatric Case Report and Mini Review. ( 29683945 )
2019
6
Hyperbilirubinemia predicts the infectious complications after esophagectomy for esophageal cancer. ( 30899455 )
2019
7
Direct hyperbilirubinemia in newborns with gastroschisis. ( 30415437 )
2019
8
Hawkinsinuria With Direct Hyperbilirubinemia in Egyptian-Lebanese Boy. ( 30984715 )
2019
9
Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia. ( 31069991 )
2019
10
Hyperbilirubinemia Induces Pro-Apoptotic Effects and Aggravates Renal Ischemia Reperfusion Injury. ( 30673658 )
2019
11
Newborn Metabolic Profile Associated with Hyperbilirubinemia With and Without Kernicterus. ( 30369069 )
2019
12
Rates of Extreme Neonatal Hyperbilirubinemia and Kernicterus in Children and Adherence to National Guidelines for Screening, Diagnosis, and Treatment in Sweden. ( 30901042 )
2019
13
Phototherapy for neonatal hyperbilirubinemia and childhood eczema, rhinitis and wheeze. ( 29678409 )
2019
14
Extreme hyperbilirubinemia: An indicator of morbidity and mortality in sickle cell disease. ( 30967906 )
2019
15
Macular Rash, Thrombocytopenia, and Hyperbilirubinemia in a Preterm Infant. ( 31093405 )
2019
16
Postoperative hyperbilirubinemia and Gilbert's syndrome in patients undergoing cardiac surgery. ( 30971605 )
2019
17
Effect of Hyperbilirubinemia on Hepatic Hypertrophy after Portal Vein Embolization and Liver Failure after Hepatectomy in Primary Biliary Malignancy. ( 30527653 )
2019
18
Influence of hypertriglyceridemia, hyperbilirubinemia and hemolysis on thrombin generation in human plasma. ( 30939111 )
2019
19
Neonatal hyperbilirubinemia secondary to combined anti e and anti C isoimmunisation: a literature review. ( 29295661 )
2019
20
Is Cord Blood Bilirubin Level a Reliable Predictor for Developing Significant Hyperbilirubinemia? ( 30081396 )
2019
21
Association between rooming-in policy and neonatal hyperbilirubinemia. ( 30089533 )
2019
22
Dexamethasone for postoperative hyperbilirubinemia in patients after liver resection: An open-label, randomized controlled trial. ( 30348460 )
2019
23
Developmental influence of unconjugated hyperbilirubinemia and neurobehavioral disorders. ( 30397278 )
2019
24
Hyperbilirubinemia and Follow-up Auditory Brainstem Responses in Preterm Infants. ( 30404412 )
2019
25
Transcutaneous bilirubin nomogram for evaluating the risk of hyperbilirubinemia in Iranian healthy newborns. ( 30465124 )
2019
26
When results matter: reliable creatinine concentrations in hyperbilirubinemia patients. ( 30496132 )
2019
27
Phototherapy is associated with the decrease in serum globulin levels in neonatal hyperbilirubinemia. ( 30588305 )
2019
28
Phototherapy for Neonatal Unconjugated Hyperbilirubinemia: Examining Outcomes by Level of Care. ( 30606776 )
2019
29
A Novel Whole Spectrum-based Non-invasive Screening Device for Neonatal Hyperbilirubinemia. ( 30640639 )
2019
30
Association between genetic polymorphism of heme oxygenase 1 promoter and neonatal hyperbilirubinemia: a meta-analysis. ( 30700176 )
2019
31
Neonatal hyperbilirubinemia: An evidence-based approach. ( 30724909 )
2019
32
Amphotericin B-Induced Hyperbilirubinemia. ( 30730333 )
2019
33
Prevalence and burden of illness of treated hemolytic neonatal hyperbilirubinemia in a privately insured population in the United States. ( 30744649 )
2019
34
The effect of intestinal flora on the neural development of severe hyperbilirubinemia neonates. ( 30779098 )
2019
35
Changes in total serum bilirubin during phototherapy in late preterm and term infants with non-haemolytic hyperbilirubinemia. ( 30831388 )
2019
36
Hyperbilirubinemia as a Predictor of Appendiceal Perforation: A Systematic Review and Diagnostic Test Meta-Analysis. ( 30834039 )
2019
37
Green LED phototherapy for neonatal hyperbilirubinemia: A randomized controlled trial. ( 30838731 )
2019
38
Knowledge of Neonatal Hyperbilirubinemia Among Primary Health Care Physicians: A Single-Center Experience. ( 30853790 )
2019
39
Association of a Delayed Cord-Clamping Protocol With Hyperbilirubinemia in Term Neonates. ( 30870273 )
2019
40
Efficacy and Safety of Steroid Therapy for Posttransplant Hyperbilirubinemia Caused by Early Allograft Dysfunction: A Randomized Controlled Trial. ( 30870403 )
2019
41
Easy Diagnosis of Jaundice: A Smartphone-Based Nanosensor Bioplatform Using Photoluminescent Bacterial Nanopaper for Point-of-Care Diagnosis of Hyperbilirubinemia. ( 30896150 )
2019
42
Enhanced early prediction of clinically relevant neonatal hyperbilirubinemia with machine learning. ( 30928997 )
2019
43
Bivalirudin Anticoagulation for an Infant with Hyperbilirubinemia and Elevated Plasma-Free Hemoglobin on ECMO. ( 30936585 )
2019
44
Revisiting ABO incompatibility as a risk factor for significant neonatal hyperbilirubinemia. ( 30943888 )
2019
45
A Novel Icterometer for Hyperbilirubinemia Screening in Low-Resource Settings. ( 30952779 )
2019
46
Association between the UGT1A1*28 allele and hyperbilirubinemia in HIV-positive patients receiving atazanavir: a meta-analysis. ( 30962262 )
2019
47
Utilization of therapeutic plasma exchange for hyperbilirubinemia in a premature newborn on extracorporeal membrane oxygenation. ( 31059153 )
2019
48
Hyperbilirubinemia in Gunn Rats is Associated with Decreased Inflammatory Response in LPS-Mediated Systemic Inflammation. ( 31075981 )
2019
49
Influence of Moderate Hyperbilirubinemia on Cardiorespiratory Control in Preterm Lambs. ( 31080416 )
2019
50
Screening for Neonatal Hyperbilirubinemia-First Do No Harm? ( 31107538 )
2019
Sources

Variations for Bilirubin Metabolic Disorder

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ClinVar genetic disease variations for Bilirubin Metabolic Disorder:

6 (show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 F12 NM_000505.3(F12): c.983C> G (p.Thr328Arg) single nucleotide variant Pathogenic rs118204456 GRCh37 Chromosome 5, 176831232: 176831232
2 F12 NM_000505.3(F12): c.983C> G (p.Thr328Arg) single nucleotide variant Pathogenic rs118204456 GRCh38 Chromosome 5, 177404231: 177404231
3 UGT1A1 NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp) single nucleotide variant Pathogenic/Likely pathogenic rs34993780 GRCh37 Chromosome 2, 234681059: 234681059
4 UGT1A1 NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp) single nucleotide variant Pathogenic/Likely pathogenic rs34993780 GRCh38 Chromosome 2, 233772413: 233772413
5 UGT1A1 NM_000463.2(UGT1A1): c.141C> A (p.Ile47=) single nucleotide variant Uncertain significance rs34526305 GRCh37 Chromosome 2, 234669074: 234669074
6 UGT1A1 NM_000463.2(UGT1A1): c.141C> A (p.Ile47=) single nucleotide variant Uncertain significance rs34526305 GRCh38 Chromosome 2, 233760428: 233760428
7 UGT1A1 NM_000463.2(UGT1A1): c.141C> T (p.Ile47=) single nucleotide variant Conflicting interpretations of pathogenicity rs34526305 GRCh37 Chromosome 2, 234669074: 234669074
8 UGT1A1 NM_000463.2(UGT1A1): c.141C> T (p.Ile47=) single nucleotide variant Conflicting interpretations of pathogenicity rs34526305 GRCh38 Chromosome 2, 233760428: 233760428
9 UGT1A1 NM_000463.2(UGT1A1): c.322C> T (p.Arg108Cys) single nucleotide variant Uncertain significance rs587784538 GRCh37 Chromosome 2, 234669255: 234669255
10 UGT1A1 NM_000463.2(UGT1A1): c.322C> T (p.Arg108Cys) single nucleotide variant Uncertain significance rs587784538 GRCh38 Chromosome 2, 233760609: 233760609
11 UGT1A1 NM_000463.2(UGT1A1): c.476T> C (p.Ile159Thr) single nucleotide variant Uncertain significance rs587784539 GRCh37 Chromosome 2, 234669409: 234669409
12 UGT1A1 NM_000463.2(UGT1A1): c.476T> C (p.Ile159Thr) single nucleotide variant Uncertain significance rs587784539 GRCh38 Chromosome 2, 233760763: 233760763
13 UGT1A1 NM_000463.2(UGT1A1): c.479T> A (p.Val160Glu) single nucleotide variant Uncertain significance rs587784540 GRCh37 Chromosome 2, 234669412: 234669412
14 UGT1A1 NM_000463.2(UGT1A1): c.479T> A (p.Val160Glu) single nucleotide variant Uncertain significance rs587784540 GRCh38 Chromosome 2, 233760766: 233760766
15 UGT1A1 NM_000463.2(UGT1A1): c.674T> G (p.Val225Gly) single nucleotide variant Conflicting interpretations of pathogenicity, other rs35003977 GRCh37 Chromosome 2, 234669607: 234669607
16 UGT1A1 NM_000463.2(UGT1A1): c.674T> G (p.Val225Gly) single nucleotide variant Conflicting interpretations of pathogenicity, other rs35003977 GRCh38 Chromosome 2, 233760961: 233760961
17 UGT1A1 NM_000463.2(UGT1A1): c.748T> C (p.Ser250Pro) single nucleotide variant Uncertain significance rs57307513 GRCh37 Chromosome 2, 234669681: 234669681
18 UGT1A1 NM_000463.2(UGT1A1): c.748T> C (p.Ser250Pro) single nucleotide variant Uncertain significance rs57307513 GRCh38 Chromosome 2, 233761035: 233761035
19 UGT1A1 NM_000463.2(UGT1A1): c.996+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs4148327 GRCh37 Chromosome 2, 234675826: 234675826
20 UGT1A1 NM_000463.2(UGT1A1): c.996+15T> C single nucleotide variant Conflicting interpretations of pathogenicity rs4148327 GRCh38 Chromosome 2, 233767180: 233767180
21 UGT1A1 NM_000463.2(UGT1A1): c.1084+1G> T single nucleotide variant Pathogenic rs587784535 GRCh37 Chromosome 2, 234676583: 234676583
22 UGT1A1 NM_000463.2(UGT1A1): c.1084+1G> T single nucleotide variant Pathogenic rs587784535 GRCh38 Chromosome 2, 233767937: 233767937
23 UGT1A1 NM_000463.2(UGT1A1): c.1231G> T (p.Val411Leu) single nucleotide variant Uncertain significance rs36076514 GRCh37 Chromosome 2, 234677012: 234677012
24 UGT1A1 NM_000463.2(UGT1A1): c.1231G> T (p.Val411Leu) single nucleotide variant Uncertain significance rs36076514 GRCh38 Chromosome 2, 233768366: 233768366
25 UGT1A1 NM_000463.2(UGT1A1): c.1354G> T (p.Val452Leu) single nucleotide variant Uncertain significance rs587784536 GRCh37 Chromosome 2, 234680957: 234680957
26 UGT1A1 NM_000463.2(UGT1A1): c.1354G> T (p.Val452Leu) single nucleotide variant Uncertain significance rs587784536 GRCh38 Chromosome 2, 233772311: 233772311
27 UGT1A1 NM_000463.2(UGT1A1): c.1413G> A (p.Ala471=) single nucleotide variant Uncertain significance rs587784537 GRCh37 Chromosome 2, 234681016: 234681016
28 UGT1A1 NM_000463.2(UGT1A1): c.1413G> A (p.Ala471=) single nucleotide variant Uncertain significance rs587784537 GRCh38 Chromosome 2, 233772370: 233772370
29 UGT1A1 NM_000463.2(UGT1A1): c.238_239insGTAC (p.Pro80Argfs) insertion Pathogenic rs797046090 GRCh38 Chromosome 2, 233760525: 233760526
30 UGT1A1 NM_000463.2(UGT1A1): c.238_239insGTAC (p.Pro80Argfs) insertion Pathogenic rs797046090 GRCh37 Chromosome 2, 234669171: 234669172
31 UGT1A1 NM_000463.2(UGT1A1): c.722_723del (p.Glu241Glyfs) deletion Pathogenic rs797046091 GRCh38 Chromosome 2, 233761009: 233761010
32 UGT1A1 NM_000463.2(UGT1A1): c.722_723del (p.Glu241Glyfs) deletion Pathogenic rs797046091 GRCh37 Chromosome 2, 234669655: 234669656
33 UGT1A; UGT1A1; UGT1A10; UGT1A3; UGT1A4; UGT1A5; UGT1A6; UGT1A7; UGT1A8; UGT1A9 NM_000463.2(UGT1A1): c.1091C> T (p.Pro364Leu) single nucleotide variant Pathogenic/Likely pathogenic rs34946978 GRCh38 Chromosome 2, 233768226: 233768226
34 UGT1A; UGT1A1; UGT1A10; UGT1A3; UGT1A4; UGT1A5; UGT1A6; UGT1A7; UGT1A8; UGT1A9 NM_000463.2(UGT1A1): c.1091C> T (p.Pro364Leu) single nucleotide variant Pathogenic/Likely pathogenic rs34946978 GRCh37 Chromosome 2, 234676872: 234676872
Sources

Expression for Bilirubin Metabolic Disorder

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Search GEO for disease gene expression data for Bilirubin Metabolic Disorder.
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Pathways for Bilirubin Metabolic Disorder

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Pathways related to Bilirubin Metabolic Disorder according to KEGG:

38
# Name Kegg Source Accession
1 Porphyrin and chlorophyll metabolism hsa00860
2 ABC transporters hsa02010
3 Bile secretion hsa04976

Pathways related to Bilirubin Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 67
Show member pathways
 13.21 ABCC2 ALB HMOX1 SLC17A5 SLC22A7 SLC35A2
2
Porphyrin and chlorophyll metabolism 38
Show member pathways
 12.18 HMOX1 UGT1A1 UGT1A6 UGT1A7 UGT1A8
3
Glucose / Energy Metabolism 4
12.12 ABCC2 G6PD UGT1A1 UGT1A6 UGT1A7 UGT1A8
4
Statin Pathway - Generalized, Pharmacokinetics 62
Show member pathways
 11.76 ABCC2 SLCO1B1 UGT1A1
5
Acetaminophen Pathway (therapeutic doses), Pharmacokinetics 62
Show member pathways
 11.6 ABCC2 UGT1A1 UGT1A6 UGT1A8
7
Bile secretion 38
11.53 ABCC2 SLC22A7 SLCO1B1
8
Steroid hormone biosynthesis 38
Show member pathways
 11.44 UGT1A1 UGT1A6 UGT1A7 UGT1A8
9
Phenytoin Pathway, Pharmacokinetics 62
Show member pathways
 11.36 ABCC2 NR1I3 UGT1A1 UGT1A6
10
Aryl Hydrocarbon Receptor Pathway 1
11.33 UGT1A1 UGT1A6 UGT1A7
11
NRF2 pathway 1
11.33 ABCC2 G6PD GGT1 HMOX1 UGT1A1 UGT1A6
12
Estrogen metabolism 1
Show member pathways
 11.16 UGT1A1 UGT1A6 UGT1A8
13
Valproic Acid Pathway, Pharmacokinetics 62
10.89 UGT1A6 UGT1A8
14
Methotrexate Pathway, Pharmacokinetics 62
Show member pathways
 10.86 ABCC2 SLCO1B1
15
Drug Induction of Bile Acid Pathway 1
10.77 ABCC2 NR1I3 SLCO1B1
16
Constitutive Androstane Receptor Pathway 1
10.76 ABCC2 NR1I3 UGT1A1 UGT1A6
17
Cori Cycle 1
10.75 G6PD GPT
Sources

GO Terms for Bilirubin Metabolic Disorder

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Cellular components related to Bilirubin Metabolic Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.7 ALB HMOX1 SLC35A2 UGT1A1 UGT1A6 UGT1A7
2 extracellular space GO:0005615 9.56 ADAMTS13 ALB F12 F2 GGT1 GPT
3 intracellular membrane-bounded organelle GO:0043231 9.1 G6PD HMOX1 UGT1A1 UGT1A6 UGT1A7 UGT1A8

Biological processes related to Bilirubin Metabolic Disorder according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of catalytic activity GO:0043086 9.67 UGT1A1 UGT1A7 UGT1A8
2 hemostasis GO:0007599 9.61 ADAMTS13 F12 F2
3 fibrinolysis GO:0042730 9.58 F12 F2
4 acute-phase response GO:0006953 9.58 F2 HP UGT1A1
5 blood coagulation, intrinsic pathway GO:0007597 9.57 F12 F2
6 zymogen activation GO:0031638 9.56 F12 GGT1
7 positive regulation of blood coagulation GO:0030194 9.55 F12 F2
8 regulation of blood coagulation GO:0030193 9.54 F12 F2
9 organic anion transport GO:0015711 9.52 SLC22A7 SLCO1B1
10 cellular glucuronidation GO:0052695 9.5 UGT1A1 UGT1A6 UGT1A7
11 coumarin metabolic process GO:0009804 9.48 UGT1A7 UGT1A8
12 heme catabolic process GO:0042167 9.46 HMOX1 UGT1A1
13 retinoic acid metabolic process GO:0042573 9.43 UGT1A1 UGT1A7 UGT1A8
14 negative regulation of steroid metabolic process GO:0045939 9.37 UGT1A1 UGT1A8
15 flavone metabolic process GO:0051552 9.33 UGT1A1 UGT1A7 UGT1A8
16 xenobiotic glucuronidation GO:0052697 9.26 UGT1A1 UGT1A6 UGT1A7 UGT1A8
17 thyroid hormone transport GO:0070327 9.21 ABCC2
18 flavonoid glucuronidation GO:0052696 8.92 UGT1A1 UGT1A6 UGT1A7 UGT1A8

Molecular functions related to Bilirubin Metabolic Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.88 G6PD HMOX1 UGT1A1 UGT1A6 UGT1A7 UGT1A8
2 transferase activity, transferring glycosyl groups GO:0016757 9.67 UGT1A1 UGT1A6 UGT1A7 UGT1A8
3 transferase activity, transferring hexosyl groups GO:0016758 9.56 UGT1A1 UGT1A6 UGT1A7 UGT1A8
4 enzyme inhibitor activity GO:0004857 9.5 UGT1A1 UGT1A7 UGT1A8
5 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.46 SLC22A7 SLCO1B1
6 glucuronosyltransferase activity GO:0015020 9.46 UGT1A1 UGT1A6 UGT1A7 UGT1A8
7 organic anion transmembrane transporter activity GO:0008514 9.43 ABCC2 SLC22A7
8 retinoic acid binding GO:0001972 9.26 UGT1A1 UGT1A6 UGT1A7 UGT1A8
9 UDP-glycosyltransferase activity GO:0008194 8.92 UGT1A1 UGT1A6 UGT1A7 UGT1A8
Sources

Sources for Bilirubin Metabolic Disorder

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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37 IUPHAR
38 KEGG
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47 MGI
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65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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