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

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

12325021

2002

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

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

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

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

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

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

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

10544227

1999

dbSNP:

rs121907994

ATP7B

0.810

CausalMutation

CLINVAR

Diverse functional properties of Wilson disease ATP7B variants.

22240481

2012

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

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

17949296

2007

dbSNP:

rs121907994

ATP7B

0.810

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:

rs121907994

ATP7B

0.810

CausalMutation

CLINVAR

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

11043508

2000

dbSNP:

rs121907994

ATP7B

0.810

GeneticVariation

CLINVAR

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 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

Identification and analysis of mutations of the Wilson disease gene in Chinese population.

11775208

2000

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

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

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

8533760

1995

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

GeneticVariation

UNIPROT

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

10544227

1999

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

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