rs761084829, ATP7B

N. diseases: 1
Disease: Hepatolenticular Degeneration ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 CausalMutation CLINVAR Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease. 27982432 2017
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 CausalMutation CLINVAR Clinical features and outcome in patients with osseomuscular type of Wilson's disease. 28212618 2017
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 CausalMutation CLINVAR Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis. 27022412 2016
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 CausalMutation CLINVAR Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease. 23275100 2013
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 CausalMutation CLINVAR EGFP tags affect cellular localization of ATP7B mutants. 23607698 2013
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 CausalMutation CLINVAR Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations. 21219664 2011