DisGeNET - a database of gene-disease associations

Hepatolenticular Degeneration, C0019202

Variant: rs121907993 ×

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:

rs121907993

ATP7B

0.800

GeneticVariation

UNIPROT

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

8533760

1995

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

UNIPROT

Efficient detection of mutations in Wilson disease by manifold sequencing.

8938442

1996

dbSNP:

rs121907993

ATP7B

0.800

CausalMutation

CLINVAR

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:

rs121907993

ATP7B

0.800

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:

rs121907993

ATP7B

0.800

GeneticVariation

UNIPROT

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

9482578

1998

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

CLINVAR

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

9671269

1998

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

UNIPROT

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

10447265

1999

dbSNP:

rs121907993

ATP7B

0.800

CausalMutation

CLINVAR

Molecular analysis and diagnosis in Japanese patients with Wilson's disease.

10453196

1999

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

UNIPROT

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

10502776

1999

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

UNIPROT

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

10544227

1999

dbSNP:

rs121907993

ATP7B

0.800

CausalMutation

CLINVAR

Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.

10790207

2000

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

UNIPROT

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

11043508

2000

dbSNP:

rs121907993

ATP7B

0.800

CausalMutation

CLINVAR

Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.

11405812

2001

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

UNIPROT

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

12325021

2002

dbSNP:

rs121907993

ATP7B

0.800

CausalMutation

CLINVAR

Two families with Wilson disease in which siblings showed different phenotypes.

12376745

2002

dbSNP:

rs121907993

ATP7B

0.800

CausalMutation

CLINVAR

Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.

14986826

2003

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

UNIPROT

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

15967699

2006

dbSNP:

rs121907993

ATP7B

0.800

CausalMutation

CLINVAR

Compound overload of copper and iron in patients with Wilson's disease.

16998622

2006

dbSNP:

rs121907993

ATP7B

0.800

CausalMutation

CLINVAR

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

17587212

2007

dbSNP:

rs121907993

ATP7B

0.800

CausalMutation

CLINVAR

Sequence variation database for the Wilson disease copper transporter, ATP7B.

17680703

2007

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

UNIPROT

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

17919502

2007

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

CLINVAR

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

17949296

2007

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

UNIPROT

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

17949296

2007

dbSNP:

rs121907993

ATP7B

0.800

CausalMutation

CLINVAR

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

18034201

2008

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

UNIPROT

Diagnosis and treatment of Wilson disease: an update.

18506894

2008