DisGeNET - a database of gene-disease associations

Hepatolenticular Degeneration, C0019202

Gene: ATP7B ×

Source: UNIPROT ×

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:

rs76151636

ATP7B

0.900

GeneticVariation

UNIPROT

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

17949296

2007

dbSNP:

rs28942074

ATP7B

0.900

GeneticVariation

UNIPROT

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

15967699

2006

dbSNP:

rs76151636

ATP7B

0.900

GeneticVariation

UNIPROT

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

15967699

2006

dbSNP:

rs28942074

ATP7B

0.900

GeneticVariation

UNIPROT

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

12325021

2002

dbSNP:

rs76151636

ATP7B

0.900

GeneticVariation

UNIPROT

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

12325021

2002

dbSNP:

rs28942074

ATP7B

0.900

GeneticVariation

UNIPROT

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

11043508

2000

dbSNP:

rs76151636

ATP7B

0.900

GeneticVariation

UNIPROT

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

11043508

2000

dbSNP:

rs28942074

ATP7B

0.900

GeneticVariation

UNIPROT

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

10447265

1999

dbSNP:

rs28942074

ATP7B

0.900

GeneticVariation

UNIPROT

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

10502776

1999

dbSNP:

rs28942074

ATP7B

0.900

GeneticVariation

UNIPROT

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

10544227

1999

dbSNP:

rs76151636

ATP7B

0.900

GeneticVariation

UNIPROT

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

10544227

1999

dbSNP:

rs76151636

ATP7B

0.900

GeneticVariation

UNIPROT

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

10447265

1999

dbSNP:

rs76151636

ATP7B

0.900

GeneticVariation

UNIPROT

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

10502776

1999

dbSNP:

rs28942074

ATP7B

0.900

GeneticVariation

UNIPROT

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

9482578

1998

dbSNP:

rs28942074

ATP7B

0.900

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:

rs76151636

ATP7B

0.900

GeneticVariation

UNIPROT

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

9482578

1998

dbSNP:

rs76151636

ATP7B

0.900

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:

rs28942074

ATP7B

0.900

GeneticVariation

UNIPROT

Efficient detection of mutations in Wilson disease by manifold sequencing.

8938442

1996

dbSNP:

rs76151636

ATP7B

0.900

GeneticVariation

UNIPROT

Efficient detection of mutations in Wilson disease by manifold sequencing.

8938442

1996

dbSNP:

rs28942074

ATP7B

0.900

GeneticVariation

UNIPROT

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

8533760

1995

dbSNP:

rs76151636

ATP7B

0.900

GeneticVariation

UNIPROT

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

8533760

1995

dbSNP:

rs121907990

ATP7B

0.820

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

dbSNP:

rs121908000

ATP7B

0.820

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

dbSNP:

rs201038679

ATP7B

0.820

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

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.

25982861

2015