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

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

9482578

1998

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

CLINVAR

Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.

25089800

2014

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

CLINVAR

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

23159873

2013

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

GeneticVariation

UNIPROT

Mutational analysis of ATP7B in north Chinese patients with Wilson disease.

23235335

2013

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

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

12376745

2002

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

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

CausalMutation

CLINVAR

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

17680703

2007

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

UNIPROT

Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.

24555712

2014

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

UNIPROT

Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.

22763723

2012

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

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

CausalMutation

CLINVAR

Mutational analysis of ATP7B in north Chinese patients with Wilson disease.

23235335

2013

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

UNIPROT

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

25982861

2015

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

GeneticVariation

CLINVAR

Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.

23333878

2013

dbSNP:

rs121907993

ATP7B

0.800

CausalMutation

CLINVAR

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

20931554

2010

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

UNIPROT

Diagnosis and treatment of Wilson disease: an update.

18506894

2008

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

UNIPROT

Efficient detection of mutations in Wilson disease by manifold sequencing.

8938442

1996

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

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

CausalMutation

CLINVAR

Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.

23275100

2013

dbSNP:

rs121907993

ATP7B

0.800

GeneticVariation

UNIPROT

EFNS guidelines on diagnosis and treatment of primary dystonias.

20482602

2011