rs774221179, 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 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 Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis. 22677543 2012
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 GeneticVariation CLINVAR Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene. 15952988 2005
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 GeneticVariation CLINVAR Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. 9671269 1998