DisGeNET - a database of gene-disease associations

Hepatolenticular Degeneration, C0019202

Variant: rs201497300 ×

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:

rs201497300

ATP7B

0.820

CausalMutation

CLINVAR

ATP7B Gene Mutations in Croatian Patients with Wilson Disease.

26799313

2016

dbSNP:

rs201497300

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

dbSNP:

rs201497300

ATP7B

0.820

GeneticVariation

BEFREE

Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.

25390358

2014

dbSNP:

rs201497300

ATP7B

0.820

GeneticVariation

UNIPROT

Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.

24706876

2014

dbSNP:

rs201497300

ATP7B

0.820

GeneticVariation

UNIPROT

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

24555712

2014

dbSNP:

rs201497300

ATP7B

0.820

CausalMutation

CLINVAR

We determined the clinical phenotype of patients with WD carrying the c.2298_2299insC in Exon 8 (c.2299insC) or the p. Ala1003Thr missense substitution in Exon 13 mutations in the homozygous or compound heterozygous state.

25390358

2014

dbSNP:

rs201497300

ATP7B

0.820

GeneticVariation

UNIPROT

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

23235335

2013

dbSNP:

rs201497300

ATP7B

0.820

GeneticVariation

CLINVAR

Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia.

23789284

2013

dbSNP:

rs201497300

ATP7B

0.820

GeneticVariation

UNIPROT

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

23518715

2013

dbSNP:

rs201497300

ATP7B

0.820

GeneticVariation

UNIPROT

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

23159873

2013

dbSNP:

rs201497300

ATP7B

0.820

CausalMutation

CLINVAR

Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia.

23789284

2013

dbSNP:

rs201497300

ATP7B

0.820

GeneticVariation

CLINVAR

Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.

23551039

2013

dbSNP:

rs201497300

ATP7B

0.820

GeneticVariation

UNIPROT

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

22075048

2012

dbSNP:

rs201497300

ATP7B

0.820

GeneticVariation

CLINVAR

A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.

22692182

2012

dbSNP:

rs201497300

ATP7B

0.820

GeneticVariation

UNIPROT

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

22763723

2012

dbSNP:

rs201497300

ATP7B

0.820

CausalMutation

CLINVAR

A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.

22692182

2012

dbSNP:

rs201497300

ATP7B

0.820

GeneticVariation

CLINVAR

Clinical presentation and mutations in Danish patients with Wilson disease.

21610751

2011

dbSNP:

rs201497300

ATP7B

0.820

CausalMutation

CLINVAR

Clinical presentation and mutations in Danish patients with Wilson disease.

21610751

2011

dbSNP:

rs201497300

ATP7B

0.820

GeneticVariation

UNIPROT

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

17949296

2007

dbSNP:

rs201497300

ATP7B

0.820

GeneticVariation

UNIPROT

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

17919502

2007

dbSNP:

rs201497300

ATP7B

0.820

GeneticVariation

UNIPROT

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

15967699

2006

dbSNP:

rs201497300

ATP7B

0.820

GeneticVariation

CLINVAR

Three mutations, Q1256R, A1003T and I1102T, were characterized in WD patients, using SSCP and DNA sequencing.

16684691

2006

dbSNP:

rs201497300

ATP7B

0.820

CausalMutation

CLINVAR

Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.

16791614

2006

dbSNP:

rs201497300

ATP7B

0.820

GeneticVariation

CLINVAR

Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.

15811015

2005

dbSNP:

rs201497300

ATP7B

0.820

GeneticVariation

CLINVAR

Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.

16207219

2005