Gene: ATP7B ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942074
rs28942074
ATP7B
T 0.900 CausalMutation CLINVAR Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease. 27982432

2017
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR Mutational analysis of ATP7B in Chinese Wilson disease patients. 27398169

2016
dbSNP: rs28942074
rs28942074
ATP7B
T 0.900 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: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR [Mutation analysis of 35 Wilson's disease pedigrees]. 26829729

2016
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR She was diagnosed with WD based on the presence of Kayser-Fleischer rings around the irises of her eyes and two ATP7B gene mutations, R778L at exon 8 and A874V at exdyon 11. 25988284

2016
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR Defective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion. 26032686

2015
dbSNP: rs28942074
rs28942074
ATP7B
T 0.900 CausalMutation CLINVAR Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation. 24094725

2014
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR Identification and characterization of a novel splice-site mutation in the Wilson disease gene. 25086856

2014
dbSNP: rs28942074
rs28942074
ATP7B
T 0.900 CausalMutation CLINVAR Arg778Leu/Gln) coexisted in all patients and they were heterozygous and homozygous in the youngest case, respectively, indicating that they may be correlated to the pathogenesis and potentially used as a genetic biomarker for early WD diagnosis. 24878384

2014
dbSNP: rs76151636
rs76151636
ATP7B
T 0.900 CausalMutation CLINVAR Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis. 24909901

2014
dbSNP: rs76151636
rs76151636
ATP7B
T 0.900 CausalMutation CLINVAR Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity. 24897373

2014
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs28942074
rs28942074
ATP7B
T 0.900 CausalMutation CLINVAR Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs76151636
rs76151636
ATP7B
T 0.900 CausalMutation CLINVAR Diverse functional properties of Wilson disease ATP7B variants. 22240481

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

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: 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 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
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: 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
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
T 0.900 CausalMutation CLINVAR Late onset Wilson's disease: therapeutic implications. 18311837

2008