DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Crigler Najjar syndrome, type 2 ×

Variant: rs34993780 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs34993780

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

Crigler Najjar syndrome, type 2

0.880

GeneticVariation

UNIPROT

Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia.

23099197

2013

dbSNP:

rs34993780

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

Crigler Najjar syndrome, type 2

0.880

GeneticVariation

UNIPROT

UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.

23992562

2013

dbSNP:

rs34993780

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

Crigler Najjar syndrome, type 2

0.880

GeneticVariation

UNIPROT

Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

19830808

2010

dbSNP:

rs34993780

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

Crigler Najjar syndrome, type 2

0.880

GeneticVariation

UNIPROT

UGT1A1 coding region mutations, including UGT1A1*6 (G71R), UGT1A1*7 (Y486D), UGT1A1*27 (P229Q) and UGT1A1*62 (F83L), have been linked to Gilbert syndrome in Asian populations, whereas homozygosity for UGT1A1*7 is associated with the Crigler-Najjar syndrome type II.

18004206

2007

dbSNP:

rs34993780

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

Crigler Najjar syndrome, type 2

0.880

GeneticVariation

UNIPROT

Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.

17229650

2007

dbSNP:

rs34993780

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

Crigler Najjar syndrome, type 2

0.880

GeneticVariation

UNIPROT

Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

15712364

2005

dbSNP:

rs34993780

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

Crigler Najjar syndrome, type 2

0.880

GeneticVariation

UNIPROT

Rapid proteasomal degradation of translocation-deficient UDP-glucuronosyltransferase 1A1 proteins in patients with Crigler-Najjar type II.

14550264

2003

dbSNP:

rs34993780

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

Crigler Najjar syndrome, type 2

0.880

GeneticVariation

UNIPROT

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

dbSNP:

rs34993780

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

Crigler Najjar syndrome, type 2

0.880

GeneticVariation

UNIPROT

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

dbSNP:

rs34993780

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

Crigler Najjar syndrome, type 2

0.880

GeneticVariation

UNIPROT

Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

11013440

2000

dbSNP:

rs34993780

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

Crigler Najjar syndrome, type 2

0.880

GeneticVariation

UNIPROT

Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.

9621515

1998

dbSNP:

rs34993780

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

Crigler Najjar syndrome, type 2

0.880

GeneticVariation

UNIPROT

Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease.

9639672

1998

dbSNP:

rs34993780

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

Crigler Najjar syndrome, type 2

0.880

GeneticVariation

UNIPROT

A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II.

8706880

1996

dbSNP:

rs34993780

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

Crigler Najjar syndrome, type 2

0.880

GeneticVariation

UNIPROT

Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

7989595

1994

dbSNP:

rs34993780

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

Crigler Najjar syndrome, type 2

0.880

GeneticVariation

UNIPROT

Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.

8276413

1993

dbSNP:

rs34993780

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

Crigler Najjar syndrome, type 2

0.880

GeneticVariation

UNIPROT

Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II.

8280139

1993

dbSNP:

rs34993780

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

Crigler Najjar syndrome, type 2

0.880

CausalMutation

CLINVAR

dbSNP:

rs34993780

UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A

CUI:	C2931132
Disease:	Crigler Najjar syndrome, type 2

Crigler Najjar syndrome, type 2

0.880

GeneticVariation

CLINVAR