Gene: ATP7B ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942074
rs28942074
ATP7B
0.900 GeneticVariation UNIPROT Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B. 24706876

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: rs76151636
rs76151636
ATP7B
0.900 GeneticVariation BEFREE OSIP108 increased not only viability of Cu-treated CHO cells transgenically expressing ATP7B and the common WD-causing mutant ATP7B(H1069Q), but also viability of Cu-treated human glioblastoma U87 cells. 25134866

2014
dbSNP: rs76151636
rs76151636
ATP7B
0.900 GeneticVariation UNIPROT Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B. 24706876

2014
dbSNP: rs76151636
rs76151636
ATP7B
0.900 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

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

2013
dbSNP: rs28942074
rs28942074
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
A 0.900 CausalMutation CLINVAR A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs28942074
rs28942074
ATP7B
0.900 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs28942074
rs28942074
ATP7B
0.900 GeneticVariation BEFREE The most frequent ATP7B mutation was c.2333 G>T (p.Arg778Leu), followed by c.2975 C>T (p.Pro992Leu), which accounted for 63.6% of the WND mutated alleles. 23275100

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
0.900 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
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 Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study. 22763723

2012
dbSNP: rs28942074
rs28942074
ATP7B
0.900 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
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 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: rs76151636
rs76151636
ATP7B
0.900 GeneticVariation BEFREE H1069Q mutation is highly prevalent in Romanian WD patients and first degree relatives, similar to other central and continental western European populations. 22720308

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
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 BEFREE We describe the generation of iPSCs from a Chinese patient with Wilson's disease that bears the R778L Chinese hotspot mutation in the ATP7B gene. 21593220

2011