Gene: ATP7B ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76151636
rs76151636
ATP7B
0.900 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs76151636
rs76151636
ATP7B
0.900 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013
dbSNP: rs28942074
rs28942074
ATP7B
0.900 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs28942074
rs28942074
ATP7B
0.900 GeneticVariation UNIPROT Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study. 22763723

2012
dbSNP: rs76151636
rs76151636
ATP7B
T 0.900 CausalMutation CLINVAR Diverse functional properties of Wilson disease ATP7B variants. 22240481

2012
dbSNP: rs76151636
rs76151636
ATP7B
0.900 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs76151636
rs76151636
ATP7B
0.900 GeneticVariation UNIPROT Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study. 22763723

2012
dbSNP: rs76151636
rs76151636
ATP7B
T 0.900 CausalMutation CLINVAR Among asymptomatic first degree relatives of patients with WD (12 siblings, 25 parents) there were 40.5% cases heterozygous for H1069Q. 22720308

2012
dbSNP: rs76151636
rs76151636
ATP7B
T 0.900 CausalMutation CLINVAR In women, APOE ε4-positive genotype is associated with earlier onset of WD symptoms, particularly among ATP7B p.H1069Q homozygous patients. 22221592

2012
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations. 21219664

2011
dbSNP: rs28942074
rs28942074
ATP7B
T 0.900 CausalMutation CLINVAR Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation. 21796144

2011
dbSNP: rs28942074
rs28942074
ATP7B
0.900 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs76151636
rs76151636
ATP7B
T 0.900 CausalMutation CLINVAR Acute Gallbladder Hydrops and Arthritis: unusual initial manifestations of Wilson's Disease (WD): Case Report. 22286624

2011
dbSNP: rs76151636
rs76151636
ATP7B
0.900 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs28942074
rs28942074
ATP7B
T 0.900 CausalMutation CLINVAR Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B. 20931554

2010
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR The arche haplotype of the ATP7B gene in Korean patients with WD may be 5-R778L-4 (D13S315.mutation.D13S316), and it might illustrate a founder effect. 19783880

2009
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin. 19937698

2009
dbSNP: rs76151636
rs76151636
ATP7B
T 0.900 CausalMutation CLINVAR Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin. 19937698

2009
dbSNP: rs28942074
rs28942074
ATP7B
0.900 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system. 18652531

2008
dbSNP: rs76151636
rs76151636
ATP7B
0.900 GeneticVariation UNIPROT Diagnosis and treatment of Wilson disease: an update. 18506894

2008
dbSNP: rs76151636
rs76151636
ATP7B
T 0.900 CausalMutation CLINVAR Late onset Wilson's disease: therapeutic implications. 18311837

2008
dbSNP: rs28942074
rs28942074
ATP7B
0.900 GeneticVariation UNIPROT Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. 17919502

2007
dbSNP: rs28942074
rs28942074
ATP7B
T 0.900 CausalMutation CLINVAR Molecular defects in ATP7B were present in only 75.0% of Korean WND patients, with the most common mutation, p.Arg778Leu, having an allele frequency of 39.2%. 17587212

2007
dbSNP: rs28942074
rs28942074
ATP7B
T 0.900 CausalMutation CLINVAR Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007