BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
Disease: Werner Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 GeneticVariation disease 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
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 Biomarker disease BEFREE Mutational inactivation of Werner (WRN) and Bloom (BLM) genes results in Werner syndrome (WS) and Bloom syndrome (BS) respectively. 29080750 2018
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 GeneticVariation disease BEFREE Inactivating mutations in RECQL2 lead to Werner syndrome, a rare autosomal disease associated with premature aging and an increased susceptibility to multiple cancer types. 26690424 2015
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 GeneticVariation 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: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 Biomarker disease BEFREE The RecQ family of DNA helicases including WRN (Werner syndrome protein) and BLM (Bloom syndrome protein) protects the genome against deleterious changes. 20159463 2010
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 Biomarker disease BEFREE The structure reveals unique features of BLM HRDC that are distinct from the HRDC domain of Werner syndrome protein. 20739603 2010
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 GeneticVariation disease BEFREE We report on a familial case of atypical Werner syndrome (a progeroid syndrome with Werner syndrome phenotype but without typical RECQL2 mutation) presenting with acute ischemic cerebral disease or peripheral artery disease associated with diffuse atherosclerosis, attributable to transmission of a novel LMNA mutation. 19095983 2009
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 GeneticVariation disease BEFREE BLM and WRN are also human RecQ helicases, which are mutated in Bloom and Werner's syndrome, respectively, and associated with chromosomal instability as well as premature aging. 19567405 2009
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 GeneticVariation disease BEFREE We therefore speculated that the WRN gene (encoding RECQL2, a DNA helicase), the germline mutation of which causes the progeroid disorder Werner syndrome, may be associated with breast tumorigenesis. 17301258 2007
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 GeneticVariation disease BEFREE WRN and BLM genes causing WS and BS, encode proteins that are closely related to the RecQ helicase. 11840341 2002
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 Biomarker disease BEFREE The Werner syndrome gene (WRN) helicase, another member of the RecQ family like BLM, has very recently been found to help mediate homologous recombination. 12427531 2002
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 Biomarker disease BEFREE In humans, defects in three family members are associated with disease conditions: BLM is defective in Bloom's syndrome, WRN in Werner's syndrome and RTS in Rothmund-Thomson syndrome. 11356154 2001
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 Biomarker disease BEFREE The Bloom syndrome (BS) protein, BLM, is a member of the RecQ DNA helicase family that also includes the Werner syndrome protein, WRN. 11399766 2001
CUI: C0043119
Disease: Werner Syndrome
Werner 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: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 Biomarker disease BEFREE This suggests that defects in the suppression of rearrangements involving divergent, repeated sequences may underlie the genome instability seen in BLM and WRN patients and in cancer cases associated with defects in these genes. 11138010 2001
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 Biomarker disease BEFREE BLM is found primarily in nuclear domain 10 except during S phase when it colocalizes with the Werner syndrome gene product, WRN, in the nucleolus. 10779560 2000
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		0.100 Biomarker disease BEFREE The gene mutated in BS, BLM, encodes a member of the RecQ family of DExH box DNA helicases, which also includes the Werner's syndrome gene product. 10823897 2000
CUI: C0043119
Disease: Werner Syndrome
Werner 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: C0043119
Disease: Werner Syndrome
Werner 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: C0043119
Disease: Werner Syndrome
Werner 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