DisGeNET - a database of gene-disease associations

Hepatolenticular Degeneration, C0019202

Variant: rs121907990 ×

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:

rs121907990

ATP7B

0.820

CausalMutation

CLINVAR

The Wilson disease gene: spectrum of mutations and their consequences.

7626145

1995

dbSNP:

rs121907990

ATP7B

0.820

CausalMutation

CLINVAR

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.

8298641

1993

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

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

8533760

1995

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

Efficient detection of mutations in Wilson disease by manifold sequencing.

8938442

1996

dbSNP:

rs121907990

ATP7B

0.820

CausalMutation

CLINVAR

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

9311736

1997

dbSNP:

rs121907990

ATP7B

0.820

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:

rs121907990

ATP7B

0.820

CausalMutation

CLINVAR

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:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.

9482578

1998

dbSNP:

rs121907990

ATP7B

0.820

CausalMutation

CLINVAR

Wild type and the H1069Q mutant could rescue delta ccc2, however, the N1270S mutant could not, reflecting phenotypic variability of Wilson disease.

9654149

1998

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

BEFREE

Wild type and the H1069Q mutant could rescue delta ccc2, however, the N1270S mutant could not, reflecting phenotypic variability of Wilson disease.

9654149

1998

dbSNP:

rs121907990

ATP7B

0.820

CausalMutation

CLINVAR

Mutation analysis of Wilson disease in Taiwan and description of six new mutations.

9829905

1998

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

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

10447265

1999

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

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

10502776

1999

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

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

10544227

1999

dbSNP:

rs121907990

ATP7B

0.820

CausalMutation

CLINVAR

Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.

10790207

2000

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

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

11043508

2000

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

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

12325021

2002

dbSNP:

rs121907990

ATP7B

0.820

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:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

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

15967699

2006

dbSNP:

rs121907990

ATP7B

0.820

CausalMutation

CLINVAR

Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.

17587212

2007

dbSNP:

rs121907990

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:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

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

17949296

2007

dbSNP:

rs121907990

ATP7B

0.820

CausalMutation

CLINVAR

Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.

18483695

2008

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

Diagnosis and treatment of Wilson disease: an update.

18506894

2008

dbSNP:

rs121907990

ATP7B

0.820

CausalMutation

CLINVAR

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

19419418

2009