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 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 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 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 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 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 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 GeneticVariation BEFREE We show here that lipodystrophy and extreme insulin resistance can also reveal the adult progeria Werner syndrome linked to mutations in WRN, encoding a RecQ DNA helicase. 23849162

2013

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE A 55-year-old patient with WS was studied and it was found that a deletion mutation of exon 26 of the WRN gene was not associated with CNS pathology, such as amyloid plaques or NFT. 12722926

2003

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE Werner syndrome is a rare autosomal recessive disorder where Werner (WRN) gene is mutated. 31085421

2019

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation 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 GeneticVariation LHGDN The present communication summarizes, from among 99 WS subjects, the spectrum of 50 distinct mutations discovered by our group and by others since the WRN gene (also called RECQL2 or REQ3) was first cloned in 1996; 25 of these have not previously been published. 16673358

2006

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE At telomeric chromatin, SIRT6 deacetylates H3K9 and is required for the stable association of WRN, the factor that is mutated in Werner syndrome. 18337721

2008

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE We asked whether spontaneous sarcomas, not known to be associated with WS, also harbor mutations or unreported single nucleotide polymorphisms (SNPs) in WRN. 19824023

2010

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE 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 Primary tail fibroblast cultures from K577M-WRN mice showed three characteristics of WS cells: hypersensitivity to 4-nitroquinoline-1-oxide (4NQO), reduced replicative potential, and reduced expression of the endogenous WRN protein. 10628995

2000

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE These include the human BLM gene, whose mutation results in Bloom syndrome, and the human WRN gene, whose mutation leads to Werner syndrome resembling premature aging. 10049920

1999

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation UNIPROT The present communication summarizes, from among 99 WS subjects, the spectrum of 50 distinct mutations discovered by our group and by others since the WRN gene (also called RECQL2 or REQ3) was first cloned in 1996; 25 of these have not previously been published. 16673358

2006

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE Mutations in WRN result in Werner's syndrome, a disease with symptoms resembling premature aging. 9271578

1997

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE However, the precise molecular mechanisms by which mutations in WRN cause the WS phenotype remain unknown. 10984715

2000

Entrez Id: 7486
Gene Symbol: WRN
WRN
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
1.000 GeneticVariation BEFREE The spectrum of WRN mutations in Werner syndrome patients. 16673358

2006