| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. | 24555712 | 2014 |
||||
|
0.800 | GeneticVariation | UNIPROT | Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B. | 24706876 | 2014 |
||||
|
0.800 | GeneticVariation | UNIPROT | Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort. | 25982861 | 2015 |
||||
|
T | 0.800 | GeneticVariation | CLINVAR | Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease. | 26483271 | 2016 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | A special case of recurrent gross hematuria: Answers. | 26650869 | 2017 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration. | 26782526 | 2015 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis. | 27022412 | 2016 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | Mutational analysis of ATP7B in Chinese Wilson disease patients. | 27398169 | 2016 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease. | 27982432 | 2017 |
|||
|
T | 0.800 | GeneticVariation | CLINVAR | Clinical features and outcome in patients with osseomuscular type of Wilson's disease. | 28212618 | 2017 |