×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
"MR image mimicking the ""eye of the tiger"" sign in Wilson's disease."
24668339 2014
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Wilson disease (WND ) is caused by a deficiency of the copper-transporting enzyme, P-type ATPase (ATP7B ).11043508 2000
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Wilson disease (WND ) is caused by a deficiency of the copper-transporting enzyme, P-type ATPase (ATP7B ).11043508 2000
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Wilson disease patients from a homogeneous ethnical background (Saxonia) were studied for distribution and phenotypes of ATP7B mutations.11690702 2001
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Wilson disease patients from a homogeneous ethnical background (Saxonia) were studied for distribution and phenotypes of ATP7B mutations.11690702 2001
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Wilson disease (WD ) is an autosomal recessive disorder caused by defects in the ATPase, Cu(2+) transporting, beta-polypeptide gene (ATP7B ) resulting in accumulation of copper in liver and brain.17634212 2007
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Wilson disease (WD ), a disorder of copper metabolism is caused by mutations in the ATP7B gene, a copper transporting ATPase.22763723 2012
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Wilson disease (WD ), a disorder of copper metabolism is caused by mutations in the ATP7B gene, a copper transporting ATPase.22763723 2012
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
A homozygous nonsense mutation and a combination of two mutations of the Wilson disease gene in patients with different lysyl oxidase activities in cultured fibroblasts.
8980283 1997
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
A novel ATP7B gene mutation in a liver failure patient with normal ceruloplasmin and low serum alkaline phosphatase.
24476933 2014
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
A novel RNA splicing mutation in Japanese patients with Wilson disease.
8526905 1995
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani Family.
22087377 2011
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
A special case of recurrent gross hematuria: Answers.
26650869 2017
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
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
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
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
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
A total of 11 missense variants of ATP7B , originally identified in WND patients, were examined for their capacity to functionally complement a yeast mutant strain in which the yeast gene ortholog, CCC2, was disrupted.
18203200 2008
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
A total of 11 missense variants of ATP7B , originally identified in WND patients, were examined for their capacity to functionally complement a yeast mutant strain in which the yeast gene ortholog, CCC2, was disrupted.
18203200 2008
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
12325021 2002
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Acute Gallbladder Hydrops and Arthritis: unusual initial manifestations of Wilson's Disease (WD): Case Report.
22286624 2011
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
After cloning of ATP7B , the spectrum of mutations and their clinical consequences have been investigated in patients with WD in different ethnic populations.
11405812 2001
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
After cloning of ATP7B , the spectrum of mutations and their clinical consequences have been investigated in patients with WD in different ethnic populations.
11405812 2001
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
30232804 2019
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
30232804 2019
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
CausalMutation
CLINVAR
Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum.
22720273 2012
×
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
Hepatolenticular Degeneration
1.000
GeneticVariation
CLINVAR
Allele dropout in PCR-based diagnosis of Wilson disease: mechanisms and solutions.
16510432 2006