Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi003-A) from a Wilson's disease patient harboring a homozygous R778L mutation in ATP7B gene. 31783295

2019

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association. 11043508

2000

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study. 22763723

2012

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease. 27982432

2017

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
A 0.900 CausalMutation CLINVAR Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin. 19937698

2009

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
A 0.900 CausalMutation CLINVAR Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system. 18652531

2008

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. 8782057

1996

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE We describe the generation of iPSCs from a Chinese patient with Wilson's disease that bears the R778L Chinese hotspot mutation in the ATP7B gene. 21593220

2011

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. 9554743

1998

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE There is a correlation between R778L and hepatic manifestations in WD patient. 14966923

2004

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 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

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
A 0.900 CausalMutation CLINVAR Molecular analysis and diagnosis in Japanese patients with Wilson's disease. 10453196

1999

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
A 0.900 CausalMutation CLINVAR Molecular defects in ATP7B were present in only 75.0% of Korean WND patients, with the most common mutation, p.Arg778Leu, having an allele frequency of 39.2%. 17587212

2007

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. 9482578

1998

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE In conclusion, WD patients with a single R778L heterozygote mutation can present with ALF as the initial clinical manifestation, and intermittent plasma transfusion combined with chelating therapy may alleviate fulminant WD without LT or ALS. 31010795

2020

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Efficient detection of mutations in Wilson disease by manifold sequencing. 8938442

1996

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Molecular defects in ATP7B were present in only 75.0% of Korean WND patients, with the most common mutation, p.Arg778Leu, having an allele frequency of 39.2%. 17587212

2007

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations. 10544227

1999

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation. 24094725

2014

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
A 0.900 CausalMutation CLINVAR Defective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion. 26032686

2015

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. 8533760

1995

dbSNP: rs28942074
rs28942074
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
A 0.900 CausalMutation CLINVAR [Mutation analysis of 35 Wilson's disease pedigrees]. 26829729

2016