rs753250853, ATP7B

N. diseases: 1
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 GeneticVariation CLINVAR A genetic study of Wilson's disease in the United Kingdom. 23518715 2013
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 GeneticVariation CLINVAR Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease. 20082719 2010
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 GeneticVariation CLINVAR Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699 2006
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 GeneticVariation CLINVAR Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. 15024742 2004
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 GeneticVariation CLINVAR [Molecular analysis of Wilson disease]. 12515040 2002
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 CausalMutation CLINVAR