Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.800 GeneticVariation CLINVAR A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.800 CausalMutation CLINVAR A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		A 0.800 CausalMutation CLINVAR A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		A 0.800 CausalMutation CLINVAR A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism. 22692182

2012
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		A 0.800 CausalMutation CLINVAR A study of Wilson disease mutations in Britain. 10502777

1999
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.800 CausalMutation CLINVAR Compound overload of copper and iron in patients with Wilson's disease. 16998622

2006
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		A 0.800 CausalMutation CLINVAR Compound overload of copper and iron in patients with Wilson's disease. 16998622

2006
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.800 GeneticVariation CLINVAR Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations. 11216666

2000
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.800 GeneticVariation 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
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		A 0.800 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
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		A 0.800 CausalMutation CLINVAR Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. 9671269

1998
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.800 GeneticVariation CLINVAR Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. 20517649

2010
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		A 0.800 CausalMutation CLINVAR Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. 20517649

2010
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.800 CausalMutation CLINVAR Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. 20517649

2010
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		A 0.800 CausalMutation CLINVAR Haplotype and mutation analysis in Greek patients with Wilson disease. 9801873

1999
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.800 GeneticVariation CLINVAR Haplotype and mutation analysis in Greek patients with Wilson disease. 9801873

1999
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		A 0.800 CausalMutation CLINVAR Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. 9311736

1997
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.800 GeneticVariation CLINVAR Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation. 20958917

2011
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.800 GeneticVariation CLINVAR Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis. 22677543

2012
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		A 0.800 CausalMutation CLINVAR Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. 10502776

1999
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		A 0.800 CausalMutation CLINVAR Molecular diagnosis of Wilson disease. 11243728

2001
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.800 CausalMutation CLINVAR Molecular diagnosis of Wilson disease. 11243728

2001
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.800 GeneticVariation CLINVAR Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. 8533760

1995
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		A 0.800 CausalMutation CLINVAR Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B. 20931554

2010
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		A 0.800 CausalMutation CLINVAR Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease. 11405812

2001