Gene: ATP7B ×
Source: INFERRED ×
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 Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
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 The result shows that Arg778Leu homozygotes are associated with the early onset of WD with hepatic presentation. 11405812

2001
dbSNP: rs28942074
rs28942074
ATP7B
A 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 Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation. 24094725

2014
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 The H1069Q, R778W and R778L mutations were absent in these WD patients. 17160357

2007
dbSNP: rs28942074
rs28942074
ATP7B
T 0.900 CausalMutation CLINVAR Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association. 11043508

2000
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR Ultrastructural identification of iron and copper accumulation in the liver of a male patient with Wilson disease. 11479773

2001
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 Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant? 9837819

1998
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 A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
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: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR Compound overload of copper and iron in patients with Wilson's disease. 16998622

2006
dbSNP: rs28942074
rs28942074
ATP7B
T 0.900 CausalMutation CLINVAR High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. 8782057

1996
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR Molecular diagnosis of Wilson disease. 11243728

2001
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR The Wilson disease gene: spectrum of mutations and their consequences. 7626145

1995
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR The result shows that Arg778Leu homozygotes are associated with the early onset of WD with hepatic presentation. 11405812

2001
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
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: 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
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 Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B. 20931554

2010
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