Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942076
rs28942076
ATP7B
T 0.800 GeneticVariation CLINVAR Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease. 30232804

2019
dbSNP: rs28942076
rs28942076
ATP7B
0.800 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: rs28942076
rs28942076
ATP7B
T 0.800 CausalMutation CLINVAR Clinical features and outcome in patients with osseomuscular type of Wilson's disease. 28212618

2017
dbSNP: rs28942076
rs28942076
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: rs28942076
rs28942076
ATP7B
T 0.800 GeneticVariation CLINVAR Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis. 27022412

2016
dbSNP: rs28942076
rs28942076
ATP7B
T 0.800 CausalMutation CLINVAR Four-year follow-up of a Wilson disease pedigree complicated with epilepsy and hypopituitarism: Case report with a literature review. 27930511

2016
dbSNP: rs28942076
rs28942076
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: rs28942076
rs28942076
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: rs28942076
rs28942076
ATP7B
0.800 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014
dbSNP: rs28942076
rs28942076
ATP7B
T 0.800 CausalMutation CLINVAR Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations. 23333878

2013
dbSNP: rs28942076
rs28942076
ATP7B
0.800 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs28942076
rs28942076
ATP7B
0.800 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013
dbSNP: rs28942076
rs28942076
ATP7B
0.800 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs28942076
rs28942076
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: rs28942076
rs28942076
ATP7B
0.800 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs28942076
rs28942076
ATP7B
T 0.800 GeneticVariation CLINVAR Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort. 21645214

2011
dbSNP: rs28942076
rs28942076
ATP7B
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs28942076
rs28942076
ATP7B
T 0.800 CausalMutation CLINVAR High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs. 18728530

2008
dbSNP: rs28942076
rs28942076
ATP7B
0.800 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008
dbSNP: rs28942076
rs28942076
ATP7B
0.800 GeneticVariation UNIPROT Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007
dbSNP: rs28942076
rs28942076
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: rs28942076
rs28942076
ATP7B
T 0.800 CausalMutation CLINVAR Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. 17587212

2007
dbSNP: rs28942076
rs28942076
ATP7B
T 0.800 CausalMutation CLINVAR Wilson's disease: a patient undiagnosed for 18 years. 16603785

2006
dbSNP: rs28942076
rs28942076
ATP7B
0.800 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs28942076
rs28942076
ATP7B
T 0.800 GeneticVariation CLINVAR The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease. 16868807

2006