DisGeNET - a database of gene-disease associations

Hepatolenticular Degeneration, C0019202

Variant: rs746485916 ×

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

CLINVAR

Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.

10544227

1999

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

CLINVAR

A genetic study of Wilson's disease in the United Kingdom.

23518715

2013

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

CLINVAR

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.

27022412

2016

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

UNIPROT

Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.

10502776

1999

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

UNIPROT

Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.

9482578

1998

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

UNIPROT

Diagnosis and treatment of Wilson disease: an update.

18506894

2008

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

UNIPROT

A genetic study of Wilson's disease in the United Kingdom.

23518715

2013

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

CLINVAR

Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis.

22677543

2012

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

CLINVAR

Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.

20517649

2010

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

CLINVAR

Clinical presentation and mutations in Danish patients with Wilson disease.

21610751

2011

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

CLINVAR

Twelve of 13 (92.3%) WD patients had the c.3207C>A (p.H1069Q) mutation, 6 of them in both chromosomes, 6 were presented as compound heterozygotes with additional c.3472-82delGGTTTAACCAT, c.3402delC, c.3121C>T (p.R1041W) or unknown mutations.

18855987

2008

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

CLINVAR

Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.

9671269

1998

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

CLINVAR

Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients.

15205742

2004

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

CLINVAR

Two mutations, c.3121C>T (p.Arg1041Trp) and c.3128T>C (p.Leu1043Pro) on exon 14 were discovered for the first time in Indian Wilson disease patients.

25982861

2015

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

CLINVAR

Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.

18203200

2008

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

UNIPROT

Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.

8533760

1995

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

UNIPROT

Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.

17949296

2007

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

UNIPROT

Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.

9452121

1998

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

UNIPROT

Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.

11043508

2000

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

UNIPROT

Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.

10544227

1999

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

CLINVAR

Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.

15967699

2006

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

UNIPROT

A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.

23159873

2013

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

UNIPROT

New novel mutation of the ATP7B gene in a family with Wilson disease.

22075048

2012

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

UNIPROT

Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.

17919502

2007

dbSNP:

rs746485916

ATP7B

0.810

GeneticVariation

UNIPROT

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

27854360

2017