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

GeneticVariation

BEFREE

Genetic analysis was subsequently conducted, and the results revealed the p. (Arg778Leu) mutation in 1 allele and the p. (Asn1270Ser) mutation in the other allele of the ATP7B gene, confirming the diagnosis of WD; the p. (D456fs) mutation in 1 allele and the p. (R299H) mutation in the other allele of the TYR gene, confirming the diagnosis of OCA.

30558096

2018

dbSNP:

rs121907990

ATP7B

0.820

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:

rs121907990

ATP7B

0.820

CausalMutation

CLINVAR

Phenotype/genotype correlation analysis suggested that the patients with c.2975C>T or c.3809A>G often presented WD features before 12 years old while the patients with c.3443T>C almost presented WD after 12 years old.

27398169

2016

dbSNP:

rs121907990

ATP7B

0.820

CausalMutation

CLINVAR

Wilson disease with hepatic presentation in an eight-month-old boy.

26269689

2015

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

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

25982861

2015

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

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

24706876

2014

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

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

24555712

2014

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

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

23235335

2013

dbSNP:

rs121907990

ATP7B

0.820

CausalMutation

CLINVAR

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

23235335

2013

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

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

23518715

2013

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

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

23159873

2013

dbSNP:

rs121907990

ATP7B

0.820

CausalMutation

CLINVAR

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

23518715

2013

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

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

22763723

2012

dbSNP:

rs121907990

ATP7B

0.820

CausalMutation

CLINVAR

Diverse functional properties of Wilson disease ATP7B variants.

22240481

2012

dbSNP:

rs121907990

ATP7B

0.820

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:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

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

22075048

2012

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

EFNS guidelines on diagnosis and treatment of primary dystonias.

20482602

2011

dbSNP:

rs121907990

ATP7B

0.820

CausalMutation

CLINVAR

Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.

20931554

2010

dbSNP:

rs121907990

ATP7B

0.820

CausalMutation

CLINVAR

Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: association with liver disease.

20485189

2010

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

dbSNP:

rs121907990

ATP7B

0.820

GeneticVariation

UNIPROT

Diagnosis and treatment of Wilson disease: an update.

18506894

2008

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

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

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

17587212

2007