BILIQTL1
MCID: BLR030
MIFTS: 33

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 58 30 6 41
Bilirubin, Serum Level of, Qtl1 58
Biliqtl1 58

Characteristics:

OMIM:

58
Inheritance:
major gene effect in 11.5% of persons analyzed


Classifications:



External Ids:

OMIM 58 601816
MedGen 43 C1866173
SNOMED-CT via HPO 70 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 descending colon cancer and pigmentation disease. 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)

Description from OMIM: 601816

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

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:

33
# Description HPO Frequency HPO Source Accession
1 hyperbilirubinemia 33 HP:0002904

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
protective effect on cad

Lab:
elevated serum bilirubin

Clinical features from OMIM:

601816

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

27 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.77 UGT1A4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.77 UGT1A5
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.77 UGT1A4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.77 UGT1A5
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.77 UGT1A4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.77 UGT1A3 UGT1A4
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.77 UGT1A5
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.77 UGT1A3 UGT1A4 UGT1A5
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.77 UGT1A4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.77 UGT1A5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.5 UGT1A4
12 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.5 UGT1A3 UGT1A4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.5 UGT1A7
14 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.5 UGT1A4
15 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.5 UGT1A3 UGT1A7
16 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.5 UGT1A7
17 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.5 UGT1A3 UGT1A4 UGT1A7
18 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.5 UGT1A3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.5 UGT1A7
20 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.5 UGT1A7
21 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.5 UGT1A7

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 30 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:

42
Breast

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

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

(show all 30)
# Title Authors Year
1
Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms: 211G>A (G71R) mutation becomes a risk factor under inadequate feeding. ( 23014115 )
2013
2
Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations. ( 19243019 )
2009
3
Genome-wide association meta-analysis for total serum bilirubin levels. ( 19414484 )
2009
4
Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoter. ( 17496722 )
2007
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. ( 18004206 )
2007
6
Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. ( 16114182 )
2005
7
Global gene expression as a function of germline genetic variation. ( 15857854 )
2005
8
Pharmacogenetics and drug development: the path to safer and more effective drugs. ( 15372086 )
2004
9
UDP-glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia. ( 12859413 )
2003
10
The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. ( 12850492 )
2003
11
Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome. ( 12402338 )
2002
12
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. ( 11370628 )
2001
13
Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. ( 11425418 )
2001
14
Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible neonates. ( 10968441 )
2000
15
Molecular diagnosis of a familial nonhemolytic hyperbilirubinemia (Gilbert's syndrome) in healthy subjects. ( 11003624 )
2000
16
Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene. ( 11061796 )
2000
17
Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn. ( 10190918 )
1999
18
Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese. ( 9929972 )
1999
19
A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene. ( 10412811 )
1999
20
Intermittent jaundice in patients with acute leukaemia: a common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians. ( 10472535 )
1999
21
UGT1 promoter polymorphism accounts for increased neonatal appearance of hereditary spherocytosis. ( 9446675 )
1998
22
Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II. ( 9621515 )
1998
23
Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese. ( 9784835 )
1998
24
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? ( 9653159 )
1998
25
Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia. ( 9342374 )
1997
26
Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome. ( 9375768 )
1997
27
The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous beta-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency. ( 9375769 )
1997
28
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. ( 7565971 )
1995
29
A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. ( 8514037 )
1993
30
The cDNA sequence and expression of a variant 17 beta-hydroxysteroid UDP-glucuronosyltransferase. ( 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 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 UGT1A1 UGT1A1*28 duplication Conflicting interpretations of pathogenicity, Affects, association, drug response, other rs3064744 GRCh37 Chromosome 2, 234668881: 234668881
2 UGT1A1 UGT1A1*28 duplication Conflicting interpretations of pathogenicity, Affects, association, drug response, other rs3064744 GRCh38 Chromosome 2, 233760235: 233760235
3 UGT1A1 UGT1A1*6 single nucleotide variant drug response rs4148323 GRCh37 Chromosome 2, 234669144: 234669144
4 UGT1A1 UGT1A1*6 single nucleotide variant drug response rs4148323 GRCh38 Chromosome 2, 233760498: 233760498
5 UGT1A1 NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp) single nucleotide variant Pathogenic/Likely pathogenic rs34993780 GRCh37 Chromosome 2, 234681059: 234681059
6 UGT1A1 NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp) single nucleotide variant Pathogenic/Likely pathogenic rs34993780 GRCh38 Chromosome 2, 233772413: 233772413
7 UGT1A1 NM_000463.2(UGT1A1): c.864+2842G> T single nucleotide variant association rs6742078 GRCh37 Chromosome 2, 234672639: 234672639
8 UGT1A1 NM_000463.2(UGT1A1): c.864+2842G> T single nucleotide variant association rs6742078 GRCh38 Chromosome 2, 233763993: 233763993
9 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
10 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
11 UGT1A; UGT1A1; UGT1A10; UGT1A3; UGT1A4; UGT1A5; UGT1A6; UGT1A7; UGT1A8; UGT1A9 NM_000463.2(UGT1A1): c.1324C> T (p.Arg442Cys) single nucleotide variant Uncertain significance rs143033456 GRCh37 Chromosome 2, 234680927: 234680927
12 UGT1A; UGT1A1; UGT1A10; UGT1A3; UGT1A4; UGT1A5; UGT1A6; UGT1A7; UGT1A8; UGT1A9 NM_000463.2(UGT1A1): c.1324C> T (p.Arg442Cys) single nucleotide variant Uncertain significance rs143033456 GRCh38 Chromosome 2, 233772281: 233772281
13 UGT1A1 NM_000463.2(UGT1A1): c.1207C> T (p.Arg403Cys) single nucleotide variant Uncertain significance rs778766461 GRCh37 Chromosome 2, 234676988: 234676988
14 UGT1A1 NM_000463.2(UGT1A1): c.1207C> T (p.Arg403Cys) single nucleotide variant Uncertain significance rs778766461 GRCh38 Chromosome 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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
2
Show member pathways
13.11 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
3
Show member pathways
12.78 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
4 12.4 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
5
Show member pathways
12.16 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
6 12.13 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
7
Show member pathways
11.79 UGT1A1 UGT1A3 UGT1A9
8
Show member pathways
11.76 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A8
9
Show member pathways
11.69 UGT1A3 UGT1A4
10
Show member pathways
11.63 UGT1A1 UGT1A4 UGT1A6 UGT1A9
11 11.59 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A7 UGT1A9
12
Show member pathways
11.43 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
13
Show member pathways
11.4 UGT1A10 UGT1A3 UGT1A4 UGT1A8
14 11.38 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A9
15
Show member pathways
11.38 UGT1A1 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT1A9
16 10.86 UGT1A3 UGT1A4 UGT1A9
17 10.42 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A8 UGT1A9

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 9.97 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
2 integral component of membrane GO:0016021 9.91 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
3 endoplasmic reticulum GO:0005783 9.76 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
4 endoplasmic reticulum membrane GO:0005789 9.61 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
5 intracellular membrane-bounded organelle GO:0043231 9.28 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6

Biological processes 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 flavonoid glucuronidation GO:0052696 9.81 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
2 retinoic acid metabolic process GO:0042573 9.72 UGT1A1 UGT1A3 UGT1A7 UGT1A8 UGT1A9
3 flavone metabolic process GO:0051552 9.65 UGT1A1 UGT1A10 UGT1A7 UGT1A8 UGT1A9
4 negative regulation of catalytic activity GO:0043086 9.61 UGT1A1 UGT1A7 UGT1A8
5 xenobiotic glucuronidation GO:0052697 9.61 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
6 xenobiotic metabolic process GO:0006805 9.51 UGT1A6 UGT1A9
7 drug metabolic process GO:0017144 9.49 UGT1A1 UGT1A7
8 coumarin metabolic process GO:0009804 9.48 UGT1A7 UGT1A8
9 heme catabolic process GO:0042167 9.46 UGT1A1 UGT1A4
10 bilirubin conjugation GO:0006789 9.4 UGT1A1 UGT1A4
11 negative regulation of steroid metabolic process GO:0045939 9.37 UGT1A1 UGT1A8
12 cellular glucuronidation GO:0052695 9.17 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein heterodimerization activity GO:0046982 9.97 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
2 glucuronosyltransferase activity GO:0015020 9.97 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
3 transferase activity, transferring glycosyl groups GO:0016757 9.91 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
4 transferase activity, transferring hexosyl groups GO:0016758 9.81 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
5 enzyme inhibitor activity GO:0004857 9.63 UGT1A1 UGT1A7 UGT1A8
6 UDP-glycosyltransferase activity GO:0008194 9.61 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
7 protein kinase C binding GO:0005080 9.49 UGT1A10 UGT1A7
8 steroid binding GO:0005496 9.48 UGT1A1 UGT1A8
9 retinoic acid binding GO:0001972 9.23 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7
10 transferase activity GO:0016740 10.09 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A5 UGT1A6
11 protein homodimerization activity GO:0042803 10.01 UGT1A1 UGT1A10 UGT1A3 UGT1A4 UGT1A6 UGT1A7

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

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
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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