DisGeNET - a database of gene-disease associations

Hepatolenticular Degeneration, C0019202

Variant: rs776280797 ×

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:

rs776280797

ATP7B

0.810

CausalMutation

CLINVAR

dbSNP:

rs776280797

ATP7B

0.810

GeneticVariation

UNIPROT

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

8533760

1995

dbSNP:

rs776280797

ATP7B

0.810

GeneticVariation

UNIPROT

Efficient detection of mutations in Wilson disease by manifold sequencing.

8938442

1996

dbSNP:

rs776280797

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:

rs776280797

ATP7B

0.810

GeneticVariation

UNIPROT

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

9482578

1998

dbSNP:

rs776280797

ATP7B

0.810

GeneticVariation

CLINVAR

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

9671269

1998

dbSNP:

rs776280797

ATP7B

0.810

GeneticVariation

CLINVAR

Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.

10447265

1999

dbSNP:

rs776280797

ATP7B

0.810

GeneticVariation

UNIPROT

Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.

10447265

1999

dbSNP:

rs776280797

ATP7B

0.810

GeneticVariation

UNIPROT

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

10502776

1999

dbSNP:

rs776280797

ATP7B

0.810

GeneticVariation

UNIPROT

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

10544227

1999

dbSNP:

rs776280797

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:

rs776280797

ATP7B

0.810

GeneticVariation

CLINVAR

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

11043508

2000

dbSNP:

rs776280797

ATP7B

0.810

GeneticVariation

UNIPROT

Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.

12325021

2002

dbSNP:

rs776280797

ATP7B

0.810

GeneticVariation

CLINVAR

Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.

14966923

2004

dbSNP:

rs776280797

ATP7B

0.810

GeneticVariation

CLINVAR

Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.

15952988

2005

dbSNP:

rs776280797

ATP7B

0.810

GeneticVariation

UNIPROT

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

15967699

2006

dbSNP:

rs776280797

ATP7B

0.810

GeneticVariation

CLINVAR

Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.

17587212

2007

dbSNP:

rs776280797

ATP7B

0.810

GeneticVariation

CLINVAR

Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients.

17876883

2007

dbSNP:

rs776280797

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:

rs776280797

ATP7B

0.810

GeneticVariation

UNIPROT

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

17949296

2007

dbSNP:

rs776280797

ATP7B

0.810

GeneticVariation

CLINVAR

Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.

18034201

2008

dbSNP:

rs776280797

ATP7B

0.810

GeneticVariation

UNIPROT

Diagnosis and treatment of Wilson disease: an update.

18506894

2008

dbSNP:

rs776280797

ATP7B

0.810

GeneticVariation

UNIPROT

EFNS guidelines on diagnosis and treatment of primary dystonias.

20482602

2011

dbSNP:

rs776280797

ATP7B

0.810

GeneticVariation

CLINVAR

Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.

20931554

2010

dbSNP:

rs776280797

ATP7B

0.810

GeneticVariation

CLINVAR

Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.

21219664

2011