Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE Of 129 index patients referred to our international registry for molecular diagnosis of Werner's syndrome, 26 (20%) had wildtype WRN coding regions and were categorised as having atypical Werner's syndrome on the basis of molecular criteria. 12927431

2003

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 CausalMutation CLINVAR The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis. 18810497

2008

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE A genetic defect implicated in WS was mapped to the WRN locus. 10911957

2000

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype. 28276523

2017

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE The SGS1 gene of the yeast Saccharomyces cerevisiae encodes a DNA helicase with homology to the human Bloom's syndrome gene BLM and the Werner's syndrome gene WRN. 10600744

1999

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE Affected and unaffected members of a Caucasian family with Werner syndrome were analyzed for mutations in the recently described Werner syndrome (WRN) gene and for their relevance to phenotypic expression of chromosomal instability and x-ray hypersensitivity. 9450180

1998

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE Werner syndrome (WS) is a rare autosomal recessive disorder caused by mutations in the WRN gene. 23583337

2013

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 AlteredExpression BEFREE We demonstrate here that the expression of the mutated WRN gene that produces nonsense mRNAs remains at low levels, resulting in the preferential expression of the intact WRN gene in the WS microcell hybrids. 11708785

2001

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE Inherited mutations in RecQ helicases result in Bloom Syndrome (BLM mutation), Werner Syndrome (WRN mutation), Rothmund-Thomson Syndrome (RECQL4 mutation), and other genetic diseases, including cancer. 31772289

2019

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 CausalMutation CLINVAR Homozygous and compound heterozygous mutations at the Werner syndrome locus. 8968742

1996

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE Previous studies have demonstrated that mutations in the Werner syndrome RecQ like helicase gene (WRN) may contribute to WS. 28440507

2017

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 CausalMutation CLINVAR Clinical utility gene card for: Werner Syndrome--Update 2014. 25182132

2015

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 CausalMutation CLINVAR A case of Werner syndrome without metabolic abnormality: implications for the early pathophysiology. 22188495

2012

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 Biomarker BEFREE WRNIP1 interacts with WRN helicase, which is defective in the premature aging disease Werner syndrome. 28118071

2017

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 Biomarker BEFREE BLM- and WRN-bearing yeasts provide new useful models to investigate human BS and WS diseases. 9671747

1998

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE Functional mutations in WRN cause Werner syndrome, a human autosomal recessive disease characterized by premature aging and associated with genetic instability and increased cancer risk. 26241669

2015

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 Biomarker BEFREE We recently discovered that cells from Werner syndrome patients displayed a deficiency in p53-mediated apoptosis and WRN binds to p53. 11399766

2001

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 CausalMutation CLINVAR Werner syndrome and mutations of the WRN and LMNA genes in France. 16786514

2006

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE Werner syndrome (WRN) gene variants and their association with altered function and age-associated diseases. 29146545

2018

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 Biomarker BEFREE It is also of potential interest to measure WRN activities in WS patients. 18810497

2008

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 Biomarker BEFREE We prepared several monoclonal antibodies (mAbs) specific for the NH2- and COOH-terminal regions of the DNA helicase (WRN helicase) responsible for Werner's syndrome known as a premature aging disease. 9885239

1999

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE Thus, the majority of wide and complex pathological phenotypes of WS may be explained in a unified manner by the cascade beginning with telomere dysfunction initiated by WRN gene mutation. 24356923

2014

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 Biomarker BEFREE BLM and WRN, the products of the Bloom's and Werner's syndrome genes, are members of the RecQ family of DNA helicases. 11433031

2001

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 Biomarker BEFREE Loss of the RecQ DNA helicase WRN protein causes Werner syndrome, in which patients exhibit features of premature aging and increased cancer. 19812417

2009

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 AlteredExpression BEFREE Further study is needed to elucidate the precise role of retinal WRN protein expression in the development of CMO in those with Werner syndrome. 29705892

2019