DisGeNET - a database of gene-disease associations

Hepatolenticular Degeneration, C0019202

Variant: rs121907994 ×

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:

rs121907994

ATP7B

0.810

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:

rs121907994

ATP7B

0.810

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:

rs121907994

ATP7B

0.810

CausalMutation

CLINVAR

Mutational analysis of ATP7B in Chinese Wilson disease patients.

27398169

2016

dbSNP:

rs121907994

ATP7B

0.810

GeneticVariation

UNIPROT

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

25982861

2015

dbSNP:

rs121907994

ATP7B

0.810

GeneticVariation

UNIPROT

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

24706876

2014

dbSNP:

rs121907994

ATP7B

0.810

GeneticVariation

UNIPROT

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

24555712

2014

dbSNP:

rs121907994

ATP7B

0.810

GeneticVariation

UNIPROT

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

23159873

2013

dbSNP:

rs121907994

ATP7B

0.810

GeneticVariation

UNIPROT

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

23235335

2013

dbSNP:

rs121907994

ATP7B

0.810

GeneticVariation

UNIPROT

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

23518715

2013

dbSNP:

rs121907994

ATP7B

0.810

GeneticVariation

UNIPROT

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

22763723

2012

dbSNP:

rs121907994

ATP7B

0.810

CausalMutation

CLINVAR

Diverse functional properties of Wilson disease ATP7B variants.

22240481

2012

dbSNP:

rs121907994

ATP7B

0.810

CausalMutation

CLINVAR

Neurological symptoms, genotype-phenotype correlations and ethnic-specific differences in Bulgarian patients with Wilson disease.

22735241

2012

dbSNP:

rs121907994

ATP7B

0.810

GeneticVariation

UNIPROT

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

22075048

2012

dbSNP:

rs121907994

ATP7B

0.810

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:

rs121907994

ATP7B

0.810

CausalMutation

CLINVAR

Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.

21645214

2011

dbSNP:

rs121907994

ATP7B

0.810

GeneticVariation

UNIPROT

EFNS guidelines on diagnosis and treatment of primary dystonias.

20482602

2011

dbSNP:

rs121907994

ATP7B

0.810

CausalMutation

CLINVAR

Potential of the international scoring system for the diagnosis of Wilson disease to differentiate Japanese patients who need anti-copper treatment.

21707886

2011

dbSNP:

rs121907994

ATP7B

0.810

CausalMutation

CLINVAR

Carrier frequency of the R778L, A874V, and N1270S mutations in the ATP7B gene in a Korean population.

19419418

2009

dbSNP:

rs121907994

ATP7B

0.810

GeneticVariation

UNIPROT

Diagnosis and treatment of Wilson disease: an update.

18506894

2008

dbSNP:

rs121907994

ATP7B

0.810

GeneticVariation

UNIPROT

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

17949296

2007

dbSNP:

rs121907994

ATP7B

0.810

GeneticVariation

UNIPROT

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

17919502

2007

dbSNP:

rs121907994

ATP7B

0.810

CausalMutation

CLINVAR

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

16998622

2006

dbSNP:

rs121907994

ATP7B

0.810

GeneticVariation

UNIPROT

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

15967699

2006

dbSNP:

rs121907994

ATP7B

0.810

CausalMutation

CLINVAR

Molecular genetic analysis of ATP7B gene demonstrated that she was homozygous for Ala-874Val mutation, one of the three common mutations in Korean patients with WD.

18156766

2006

dbSNP:

rs121907994

ATP7B

0.810

CausalMutation

CLINVAR

Twelve different mutations in 33 Korean families with Wilson disease were identified: Arg778Leu (R778L), Asn1270Ser (N1270S), Ala874Val (A874V), 2303-2305delC, 2630-2656del, 2460-2462insC, Cys656Stop (C656X), Pro768His (P768H), Leu1083Phe (L1083F), Ala1168Ser (A1168S), Leu1255Ile (L1255I), and Asp1267Ala (D1267A).

12544487

2003