rs193922111, 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 CausalMutation CLINVAR Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease. 22308153 2011
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 CausalMutation CLINVAR Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease. 18371106 2008
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 CausalMutation CLINVAR Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B). 15523622 2004
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 CausalMutation CLINVAR Molecular diagnosis of Wilson disease. 11243728 2001
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 CausalMutation CLINVAR Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations. 11216666 2000
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 CausalMutation CLINVAR Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. 9482578 1998
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 CausalMutation CLINVAR Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. 9311736 1997