Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204643
rs786204643
ATP7B
0.810 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: rs786204643
rs786204643
ATP7B
0.810 GeneticVariation UNIPROT Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort. 25982861

2015
dbSNP: rs786204643
rs786204643
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: rs786204643
rs786204643
ATP7B
0.810 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014
dbSNP: rs786204643
rs786204643
ATP7B
0.810 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013
dbSNP: rs786204643
rs786204643
ATP7B
0.810 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs786204643
rs786204643
ATP7B
0.810 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs786204643
rs786204643
ATP7B
A 0.810 GeneticVariation CLINVAR A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs786204643
rs786204643
ATP7B
0.810 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs786204643
rs786204643
ATP7B
A 0.810 GeneticVariation CLINVAR Diverse functional properties of Wilson disease ATP7B variants. 22240481

2012
dbSNP: rs786204643
rs786204643
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: rs786204643
rs786204643
ATP7B
0.810 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs786204643
rs786204643
ATP7B
A 0.810 GeneticVariation CLINVAR Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease. 22308153

2011
dbSNP: rs786204643
rs786204643
ATP7B
0.810 GeneticVariation BEFREE A Wilson disease patient mutation (G85V) led to enhanced ATP7B turnover, which was further exacerbated when cells overexpressed clusterin. 21242307

2011
dbSNP: rs786204643
rs786204643
ATP7B
A 0.810 GeneticVariation CLINVAR Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin. 19937698

2009
dbSNP: rs786204643
rs786204643
ATP7B
0.810 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008
dbSNP: rs786204643
rs786204643
ATP7B
0.810 GeneticVariation UNIPROT Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007
dbSNP: rs786204643
rs786204643
ATP7B
A 0.810 GeneticVariation CLINVAR Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. 17919502

2007
dbSNP: rs786204643
rs786204643
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: rs786204643
rs786204643
ATP7B
0.810 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs786204643
rs786204643
ATP7B
A 0.810 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: rs786204643
rs786204643
ATP7B
0.810 GeneticVariation UNIPROT Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002
dbSNP: rs786204643
rs786204643
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: rs786204643
rs786204643
ATP7B
0.810 GeneticVariation UNIPROT Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. 10502776

1999
dbSNP: rs786204643
rs786204643
ATP7B
0.810 GeneticVariation UNIPROT Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. 10544227

1999