BILIQTL1
MCID: BLR030
MIFTS: 32

Bilirubin, Serum Level of, Quantitative Trait Locus 1 (BILIQTL1)

Categories: Genetic diseases

Aliases & Classifications for Bilirubin, Serum Level of, Quantitative Trait Locus 1

MalaCards integrated aliases for Bilirubin, Serum Level of, Quantitative Trait Locus 1:

Name: Bilirubin, Serum Level of, Quantitative Trait Locus 1 57 29 6 39
Bilirubin, Serum Level of, Qtl1 57
Biliqtl1 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
major gene effect in 11.5% of persons analyzed


Classifications:



External Ids:

OMIM® 57 601816
SNOMED-CT via HPO 68 26165005

Summaries for Bilirubin, Serum Level of, Quantitative Trait Locus 1

MalaCards based summary : Bilirubin, Serum Level of, Quantitative Trait Locus 1, also known as bilirubin, serum level of, qtl1, is related to drug-induced hepatitis and epicardium cancer. An important gene associated with Bilirubin, Serum Level of, Quantitative Trait Locus 1 is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. Affiliated tissues include breast, and related phenotypes are hyperbilirubinemia and Decreased shRNA abundance (Z-score < -2)

More information from OMIM: 601816

Related Diseases for Bilirubin, Serum Level of, Quantitative Trait Locus 1

Diseases related to Bilirubin, Serum Level of, Quantitative Trait Locus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 drug-induced hepatitis 9.8 UGT1A3 UGT1A1
2 epicardium cancer 9.8 UGT1A8 UGT1A1
3 blood group incompatibility 9.7 UGT1A8 UGT1A1
4 thiopurines, poor metabolism of, 1 9.6 UGT1A8 UGT1A6 UGT1A1
5 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 9.6 UGT1A8 UGT1A6 UGT1A1
6 dihydropyrimidine dehydrogenase deficiency 9.6 UGT1A8 UGT1A6 UGT1A1
7 pigmentation disease 9.6 UGT1A8 UGT1A6 UGT1A1
8 glucosephosphate dehydrogenase deficiency 9.6 UGT1A8 UGT1A6 UGT1A1
9 pericholangitis 9.5 UGT1A7 UGT1A5 UGT1A3 UGT1A10
10 gallbladder disease 9.5 UGT1A8 UGT1A6 UGT1A1
11 inherited metabolic disorder 9.5 UGT1A8 UGT1A6 UGT1A1
12 cholelithiasis 9.4 UGT1A8 UGT1A6 UGT1A3 UGT1A1
13 acetaminophen metabolism 9.4 UGT1A9 UGT1A6 UGT1A3 UGT1A10 UGT1A1
14 sickle cell anemia 9.4 UGT1A8 UGT1A6 UGT1A10 UGT1A1
15 kernicterus 8.2 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
16 bilirubin metabolic disorder 8.0 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
17 hereditary spherocytosis 8.0 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
18 crigler-najjar syndrome, type i 8.0 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
19 crigler-najjar syndrome, type ii 8.0 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
20 hyperbilirubinemia, transient familial neonatal 8.0 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
21 gilbert syndrome 8.0 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4

Graphical network of the top 20 diseases related to Bilirubin, Serum Level of, Quantitative Trait Locus 1:



Diseases related to Bilirubin, Serum Level of, Quantitative Trait Locus 1

Symptoms & Phenotypes for Bilirubin, Serum Level of, Quantitative Trait Locus 1

Human phenotypes related to Bilirubin, Serum Level of, Quantitative Trait Locus 1:

31
# Description HPO Frequency HPO Source Accession
1 hyperbilirubinemia 31 HP:0002904

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiac:
protective effect on cad

Lab:
elevated serum bilirubin

Clinical features from OMIM®:

601816 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Bilirubin, Serum Level of, Quantitative Trait Locus 1 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 9.64 UGT1A4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-147 9.64 UGT1A3 UGT1A7
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.64 UGT1A7
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.64 UGT1A4 UGT1A7
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.64 UGT1A3 UGT1A4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.64 UGT1A5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.64 UGT1A3 UGT1A4 UGT1A5
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-215 9.64 UGT1A5
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.64 UGT1A5

Drugs & Therapeutics for Bilirubin, Serum Level of, Quantitative Trait Locus 1

Search Clinical Trials , NIH Clinical Center for Bilirubin, Serum Level of, Quantitative Trait Locus 1

Genetic Tests for Bilirubin, Serum Level of, Quantitative Trait Locus 1

Genetic tests related to Bilirubin, Serum Level of, Quantitative Trait Locus 1:

# Genetic test Affiliating Genes
1 Bilirubin, Serum Level of, Quantitative Trait Locus 1 29 UGT1A1

Anatomical Context for Bilirubin, Serum Level of, Quantitative Trait Locus 1

MalaCards organs/tissues related to Bilirubin, Serum Level of, Quantitative Trait Locus 1:

40
Breast

Publications for Bilirubin, Serum Level of, Quantitative Trait Locus 1

Articles related to Bilirubin, Serum Level of, Quantitative Trait Locus 1:

(show all 34)
# Title Authors PMID Year
1
Genome-wide association meta-analysis for total serum bilirubin levels. 57 6
19414484 2009
2
Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations. 6 57
19243019 2009
3
Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding. 6
23014115 2013
4
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia. 57
19419973 2009
5
Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates. 6
18004206 2007
6
Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter. 6
17496722 2007
7
Global gene expression as a function of germline genetic variation. 6
15857854 2005
8
Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. 6
16114182 2005
9
Pharmacogenetics and drug development: the path to safer and more effective drugs. 6
15372086 2004
10
UDP-glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia. 6
12859413 2003
11
The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. 6
12850492 2003
12
Evidence for a gene influencing serum bilirubin on chromosome 2q telomere: a genomewide scan in the Framingham study. 57
12618960 2003
13
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
14
Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. 6
11425418 2001
15
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
16
Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene. 6
11061796 2000
17
Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects. 6
11003624 2000
18
Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates. 6
10968441 2000
19
Intermittent jaundice in patients with acute leukaemia: a common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians. 6
10472535 1999
20
A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene. 6
10412811 1999
21
Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn. 6
10190918 1999
22
Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese. 6
9929972 1999
23
Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese. 6
9784835 1998
24
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? 6
9653159 1998
25
UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. 6
9446675 1998
26
Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II. 6
9621515 1998
27
Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome. 6
9375768 1997
28
Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia. 6
9342374 1997
29
Evidence for a major gene elevating serum bilirubin concentration in Utah pedigrees. 57
8696953 1996
30
Higher serum bilirubin is associated with decreased risk for early familial coronary artery disease. 57
8620339 1996
31
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. 6
7565971 1995
32
Association of low serum concentration of bilirubin with increased risk of coronary artery disease. 57
8287538 1994
33
A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. 6
8514037 1993
34
The cDNA sequence and expression of a variant 17 beta-hydroxysteroid UDP-glucuronosyltransferase. 6
1692835 1990

Variations for Bilirubin, Serum Level of, Quantitative Trait Locus 1

ClinVar genetic disease variations for Bilirubin, Serum Level of, Quantitative Trait Locus 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 NM_001072.4(UGT1A6):c.862-3041G>T SNV association 12289 rs6742078 GRCh37: 2:234672639-234672639
GRCh38: 2:233763993-233763993
2 UGT1A1 , UGT1A , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 UGT1A1*28 Microsatellite association 12275 rs3064744 GRCh37: 2:234668881-234668881
GRCh38: 2:233760233-233760234
3 UGT1A , UGT1A10 , UGT1A1 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 UGT1A1*6 SNV association 12280 rs4148323 GRCh37: 2:234669144-234669144
GRCh38: 2:233760498-233760498
4 UGT1A1 , UGT1A , UGT1A10 , UGT1A3 , UGT1A4 , UGT1A5 , UGT1A6 , UGT1A7 , UGT1A8 , UGT1A9 UGT1A1*28 Microsatellite Pathogenic 12275 rs3064744 GRCh37: 2:234668881-234668881
GRCh38: 2:233760233-233760234
5 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
6 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
7 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
8 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

Expression for Bilirubin, Serum Level of, Quantitative Trait Locus 1

Search GEO for disease gene expression data for Bilirubin, Serum Level of, Quantitative Trait Locus 1.

Pathways for Bilirubin, Serum Level of, Quantitative Trait Locus 1

Pathways related to Bilirubin, Serum Level of, Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2
Show member pathways
13.19 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
3
Show member pathways
12.87 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
4 12.3 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
5 12.17 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A3 UGT1A1
6
Show member pathways
12.17 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
7
Show member pathways
11.87 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3 UGT1A10
8
Show member pathways
11.85 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
9
Show member pathways
11.84 UGT1A9 UGT1A3 UGT1A1
10
Show member pathways
11.83 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
11
Show member pathways
11.78 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
12
Show member pathways
11.76 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
13
Show member pathways
11.71 UGT1A9 UGT1A8 UGT1A3 UGT1A10 UGT1A1
14
Show member pathways
11.67 UGT1A9 UGT1A6 UGT1A4 UGT1A1
15 11.65 UGT1A9 UGT1A7 UGT1A6 UGT1A4 UGT1A3 UGT1A1
16
Show member pathways
11.47 UGT1A9 UGT1A8 UGT1A6 UGT1A4 UGT1A3 UGT1A1
17
Show member pathways
11.45 UGT1A8 UGT1A4 UGT1A3 UGT1A10
18 11.41 UGT1A9 UGT1A6 UGT1A4 UGT1A3 UGT1A1
19
Show member pathways
11.3 UGT1A9 UGT1A7 UGT1A1
20 11.23 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
21 10.93 UGT1A9 UGT1A4 UGT1A3
22 10.79 UGT1A4 UGT1A3
23
Show member pathways
10.65 UGT1A3 UGT1A1
24 10.55 UGT1A9 UGT1A10

GO Terms for Bilirubin, Serum Level of, Quantitative Trait Locus 1

Cellular components related to Bilirubin, Serum Level of, Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.91 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 integral component of membrane GO:0016021 9.81 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
3 endoplasmic reticulum GO:0005783 9.61 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
4 endoplasmic reticulum membrane GO:0005789 9.28 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4

Biological processes related to Bilirubin, Serum Level of, Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cellular glucuronidation GO:0052695 9.76 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
2 retinoic acid metabolic process GO:0042573 9.72 UGT1A9 UGT1A8 UGT1A7 UGT1A3 UGT1A1
3 negative regulation of catalytic activity GO:0043086 9.71 UGT1A8 UGT1A7 UGT1A1
4 negative regulation of fatty acid metabolic process GO:0045922 9.67 UGT1A8 UGT1A4 UGT1A10 UGT1A1
5 estrogen metabolic process GO:0008210 9.65 UGT1A7 UGT1A3 UGT1A1
6 flavone metabolic process GO:0051552 9.65 UGT1A9 UGT1A8 UGT1A7 UGT1A10 UGT1A1
7 drug metabolic process GO:0017144 9.63 UGT1A8 UGT1A7 UGT1A1
8 negative regulation of cellular glucuronidation GO:2001030 9.61 UGT1A4 UGT1A10 UGT1A1
9 xenobiotic glucuronidation GO:0052697 9.61 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
10 negative regulation of glucuronosyltransferase activity GO:1904224 9.58 UGT1A4 UGT1A10 UGT1A1
11 heme catabolic process GO:0042167 9.56 UGT1A4 UGT1A1
12 coumarin metabolic process GO:0009804 9.55 UGT1A8 UGT1A7
13 vitamin D3 metabolic process GO:0070640 9.52 UGT1A4 UGT1A3
14 negative regulation of steroid metabolic process GO:0045939 9.51 UGT1A8 UGT1A1
15 bilirubin conjugation GO:0006789 9.49 UGT1A4 UGT1A1
16 flavonoid glucuronidation GO:0052696 9.28 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4

Molecular functions related to Bilirubin, Serum Level of, Quantitative Trait Locus 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.09 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
2 protein homodimerization activity GO:0042803 10.01 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
3 enzyme binding GO:0019899 9.97 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
4 protein heterodimerization activity GO:0046982 9.92 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
5 retinoic acid binding GO:0001972 9.86 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A4 UGT1A3
6 transferase activity, transferring glycosyl groups GO:0016757 9.81 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
7 enzyme inhibitor activity GO:0004857 9.63 UGT1A8 UGT1A7 UGT1A1
8 glucuronosyltransferase activity GO:0015020 9.61 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4
9 protein kinase C binding GO:0005080 9.51 UGT1A7 UGT1A10
10 drug binding GO:0008144 9.49 UGT1A8 UGT1A7
11 steroid binding GO:0005496 9.48 UGT1A8 UGT1A1
12 UDP-glycosyltransferase activity GO:0008194 9.28 UGT1A9 UGT1A8 UGT1A7 UGT1A6 UGT1A5 UGT1A4

Sources for Bilirubin, Serum Level of, Quantitative Trait Locus 1

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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