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 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 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 		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 		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 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 A study of Wilson disease mutations in Britain. 10502777

1999
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		A 0.800 CausalMutation CLINVAR Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. 10790207

2000
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 		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 		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
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		A 0.800 CausalMutation CLINVAR Ultrastructural identification of iron and copper accumulation in the liver of a male patient with Wilson disease. 11479773

2001
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.800 CausalMutation CLINVAR Ultrastructural identification of iron and copper accumulation in the liver of a male patient with Wilson disease. 11479773

2001
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.800 GeneticVariation CLINVAR Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.800 GeneticVariation CLINVAR Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population. 16207219

2005
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 		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 Revised King's College score for liver transplantation in adult patients with Wilson's disease. 17154398

2007
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		A 0.800 CausalMutation CLINVAR No significant difference was observed in copper stimulated ATPase activity between homozygous (R778W/R778W, I1102T/I1102T) and compound heterozygous (R778W/unknown mutation, I1102T/unknown mutation) WD patients. 17160357

2007
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.800 CausalMutation CLINVAR No significant difference was observed in copper stimulated ATPase activity between homozygous (R778W/R778W, I1102T/I1102T) and compound heterozygous (R778W/unknown mutation, I1102T/unknown mutation) WD patients. 17160357

2007
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		C 0.800 GeneticVariation CLINVAR Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease. 17272994

2007
dbSNP: rs137853284
rs137853284
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration 		A 0.800 CausalMutation CLINVAR Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007