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

CLINVAR

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

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

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

GeneticVariation

UNIPROT

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

12325021

2002

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

CausalMutation

CLINVAR

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

16998622

2006

dbSNP:

rs121907994

ATP7B

0.810

GeneticVariation

UNIPROT

Diagnosis and treatment of Wilson disease: an update.

18506894

2008

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

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

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

Diverse functional properties of Wilson disease ATP7B variants.

22240481

2012

dbSNP:

rs121907994

ATP7B

0.810

GeneticVariation

UNIPROT

Efficient detection of mutations in Wilson disease by manifold sequencing.

8938442

1996

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

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

24555712

2014

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

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

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

UNIPROT

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

UNIPROT

Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.

10502776

1999

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

GeneticVariation

UNIPROT

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

8533760

1995

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

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

Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.

10447265

1999