rs753594031, 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
0.800 GeneticVariation CLINVAR Molecular analysis and diagnosis in Japanese patients with Wilson's disease. 10453196 1999
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.800 GeneticVariation UNIPROT Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online. 10447265 1999
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.800 GeneticVariation CLINVAR Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics. 10070620 1999
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.800 GeneticVariation UNIPROT Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. 10544227 1999
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.800 GeneticVariation UNIPROT Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. 9482578 1998
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.800 GeneticVariation UNIPROT Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population. 9452121 1998
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.800 GeneticVariation CLINVAR Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. 9311736 1997
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.800 GeneticVariation CLINVAR Haplotype and mutation analysis in Japanese patients with Wilson disease. 9199563 1997
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.800 GeneticVariation UNIPROT Efficient detection of mutations in Wilson disease by manifold sequencing. 8938442 1996
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.800 GeneticVariation UNIPROT Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. 8533760 1995