WRN, WRN RecQ like helicase, 7486

N. diseases: 172; N. variants: 89
Disease: Bloom Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 Biomarker disease BEFREE In humans, mutations in three RecQ genes - BLM, WRN, and RECQL4 - give rise to Bloom's syndrome (BS), Werner syndrome (WS), and Rothmund-Thomson syndrome (RTS), respectively. 27238185 2017
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 Biomarker disease BEFREE WRN appears to bind a distinct subpopulation of G4 motifs in human cells, when compared with the related Bloom syndrome RECQ helicase protein. 26984941 2016
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 Biomarker disease BEFREE In humans, there are five RECQ helicase genes, and mutations in three of them-BLM, WRN, and RECQL4-are associated with the genetic disorders Bloom syndrome, Werner syndrome, and Rothmund-Thomson syndrome (RTS), respectively. 24924172 2014
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 GeneticVariation disease BEFREE Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. 24602044 2014
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 Biomarker disease BEFREE Mutations in the RecQ helicases BLM and WRN are linked to the cancer-prone disorder Bloom's syndrome and premature aging condition Werner syndrome, respectively. 23161009 2013
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 GeneticVariation disease BEFREE Loss-of-function mutations in the human RecQ helicase genes WRN and BLM respectively cause the genetic instability/cancer predisposition syndromes Werner syndrome and Bloom syndrome. 20663905 2010
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 Biomarker disease LHGDN Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins. 11919194 2002
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 GeneticVariation disease BEFREE Bloom's syndrome (BS) arises through mutations in both copies of the BLM gene that encodes a RecQ 3'-5' DNA helicase. 11960380 2002
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 GeneticVariation disease BEFREE Bloom's syndrome is a rare human autosomal recessive disorder that combines a marked genetic instability and an increased risk of developing all types of cancers and which results from mutations in both copies of the BLM gene encoding a RecQ 3'-5' DNA helicase. 11741924 2002
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 GeneticVariation disease BEFREE The genes encoding BLM and WRN are mutated in the cancer-prone disorder Bloom's syndrome (BS) and the plogeroid disorder Werner's syndrome (WS), respectively. 11275547 2001
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 Biomarker disease BEFREE The WRN gene encodes a 3'-5' DNA helicase, and is a member of the RecQ family, which also includes the product of the Bloom's syndrome gene (BLM). 11256630 2000
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 Biomarker disease 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
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 Biomarker disease BEFREE BLM- and WRN-bearing yeasts provide new useful models to investigate human BS and WS diseases. 9671747 1998
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.100 Biomarker disease BEFREE The Saccharomyces cerevisiae SGS1 gene is homologous to Escherichia coli RecQ and the human BLM and WRN proteins that are defective in the cancer-prone disorder Bloom's syndrome and the premature aging disorder Werner's syndrome, respectively. 8913739 1996