rs367956522, ATP7B

N. diseases: 7
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 Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation. 24094725 2014
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 CausalMutation 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 A genetic study of Wilson's disease in the United Kingdom. 23518715 2013
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 CausalMutation 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 CausalMutation CLINVAR RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease. 19371217 2009
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 CausalMutation CLINVAR Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease. 16283883 2005
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 CausalMutation CLINVAR Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation. 10441329 1999
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
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.700 GeneticVariation CLINVAR Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. 9311736 1997
High nonceruloplasmin-bound serum copper
CUI: C1848459
Disease: High nonceruloplasmin-bound serum copper
0.700 CausalMutation CLINVAR
Liver Failure
CUI: C0085605
Disease: Liver Failure
0.700 CausalMutation CLINVAR
Decreased serum ceruloplasmin
CUI: C0240997
Disease: Decreased serum ceruloplasmin
0.700 CausalMutation CLINVAR
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
0.700 CausalMutation CLINVAR
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.700 CausalMutation CLINVAR
Leukocytosis
CUI: C0023518
Disease: Leukocytosis
0.700 CausalMutation CLINVAR