DisGeNET - a database of gene-disease associations

Hepatolenticular Degeneration, C0019202

Variant: rs137853284 ×

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:

rs137853284

ATP7B

0.800

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:

rs137853284

ATP7B

0.800

CausalMutation

CLINVAR

Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.

27022412

2016

dbSNP:

rs137853284

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:

rs137853284

ATP7B

0.800

GeneticVariation

UNIPROT

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

24706876

2014

dbSNP:

rs137853284

ATP7B

0.800

GeneticVariation

UNIPROT

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

24555712

2014

dbSNP:

rs137853284

ATP7B

0.800

GeneticVariation

UNIPROT

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

23235335

2013

dbSNP:

rs137853284

ATP7B

0.800

CausalMutation

CLINVAR

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

23518715

2013

dbSNP:

rs137853284

ATP7B

0.800

GeneticVariation

CLINVAR

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

23333878

2013

dbSNP:

rs137853284

ATP7B

0.800

GeneticVariation

UNIPROT

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

23518715

2013

dbSNP:

rs137853284

ATP7B

0.800

CausalMutation

CLINVAR

Wilson disease in offspring of affected patients: report of four French families.

23567103

2013

dbSNP:

rs137853284

ATP7B

0.800

CausalMutation

CLINVAR

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

23518715

2013

dbSNP:

rs137853284

ATP7B

0.800

GeneticVariation

UNIPROT

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

23159873

2013

dbSNP:

rs137853284

ATP7B

0.800

CausalMutation

CLINVAR

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

23333878

2013

dbSNP:

rs137853284

ATP7B

0.800

GeneticVariation

CLINVAR

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

23518715

2013

dbSNP:

rs137853284

ATP7B

0.800

CausalMutation

CLINVAR

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

23333878

2013

dbSNP:

rs137853284

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:

rs137853284

ATP7B

0.800

GeneticVariation

CLINVAR

Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis.

22677543

2012

dbSNP:

rs137853284

ATP7B

0.800

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:

rs137853284

ATP7B

0.800

GeneticVariation

UNIPROT

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

22075048

2012

dbSNP:

rs137853284

ATP7B

0.800

CausalMutation

CLINVAR

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

21682854

2011

dbSNP:

rs137853284

ATP7B

0.800

GeneticVariation

UNIPROT

EFNS guidelines on diagnosis and treatment of primary dystonias.

20482602

2011

dbSNP:

rs137853284

ATP7B

0.800

CausalMutation

CLINVAR

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

21682854

2011

dbSNP:

rs137853284

ATP7B

0.800

GeneticVariation

CLINVAR

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

21682854

2011

dbSNP:

rs137853284

ATP7B

0.800

GeneticVariation

CLINVAR

Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation.

20958917

2011

dbSNP:

rs137853284

ATP7B

0.800

GeneticVariation

CLINVAR

Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.

20517649

2010