Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204718
rs786204718
ATP7B
T 0.800 CausalMutation CLINVAR Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease. 27982432

2017
dbSNP: rs786204718
rs786204718
ATP7B
T 0.800 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: rs786204718
rs786204718
ATP7B
0.800 GeneticVariation UNIPROT Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort. 25982861

2015
dbSNP: rs786204718
rs786204718
ATP7B
0.800 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014
dbSNP: rs786204718
rs786204718
ATP7B
0.800 GeneticVariation UNIPROT Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B. 24706876

2014
dbSNP: rs786204718
rs786204718
ATP7B
T 0.800 GeneticVariation CLINVAR The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population. 23486543

2013
dbSNP: rs786204718
rs786204718
ATP7B
T 0.800 GeneticVariation CLINVAR Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs786204718
rs786204718
ATP7B
0.800 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs786204718
rs786204718
ATP7B
0.800 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013
dbSNP: rs786204718
rs786204718
ATP7B
0.800 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs786204718
rs786204718
ATP7B
T 0.800 CausalMutation CLINVAR The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population. 23486543

2013
dbSNP: rs786204718
rs786204718
ATP7B
T 0.800 CausalMutation CLINVAR Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs786204718
rs786204718
ATP7B
0.800 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs786204718
rs786204718
ATP7B
T 0.800 GeneticVariation CLINVAR Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis. 22677543

2012
dbSNP: rs786204718
rs786204718
ATP7B
0.800 GeneticVariation UNIPROT Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study. 22763723

2012
dbSNP: rs786204718
rs786204718
ATP7B
T 0.800 GeneticVariation CLINVAR Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease. 22308153

2011
dbSNP: rs786204718
rs786204718
ATP7B
T 0.800 GeneticVariation CLINVAR Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. 20517649

2010
dbSNP: rs786204718
rs786204718
ATP7B
T 0.800 CausalMutation CLINVAR Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. 20517649

2010
dbSNP: rs786204718
rs786204718
ATP7B
0.800 GeneticVariation UNIPROT Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007
dbSNP: rs786204718
rs786204718
ATP7B
0.800 GeneticVariation UNIPROT Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. 17919502

2007
dbSNP: rs786204718
rs786204718
ATP7B
0.800 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs786204718
rs786204718
ATP7B
T 0.800 CausalMutation CLINVAR Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease. 14986826

2003
dbSNP: rs786204718
rs786204718
ATP7B
T 0.800 GeneticVariation CLINVAR Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease. 14986826

2003
dbSNP: rs786204718
rs786204718
ATP7B
0.800 GeneticVariation UNIPROT Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002
dbSNP: rs786204718
rs786204718
ATP7B
T 0.800 CausalMutation CLINVAR Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations. 11216666

2000