BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
Disease: Premature aging syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		0.100 GeneticVariation disease BEFREE Bloom's syndrome: Why not premature aging?: A comparison of the BLM and WRN helicases. 27238185 2017
CUI: C0231341
Disease: Premature aging syndrome
Premature aging 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: C0231341
Disease: Premature aging syndrome
Premature aging 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: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		0.100 GeneticVariation disease BEFREE Defects in three of the RecQ helicases, RecQ4, BLM, and WRN, cause human pathologies linked with cancer predisposition and premature aging. 20075015 2010
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		0.100 Biomarker disease BEFREE Additionally high T-SCE rates have been observed in cells with deficiencies in WRN and BLM, the genes that are defective in Werner's and Bloom's syndromes, implying a connection to premature aging. 20952810 2010
CUI: C0231341
Disease: Premature aging syndrome
Premature aging 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: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		0.100 Biomarker disease BEFREE Genetic defects in three of the five human RecQ helicases, BLM, WRN and RECQ4, give rise to defined syndromes associated with cancer predisposition, some features of premature ageing and chromosomal instability. 19657341 2009
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		0.100 GeneticVariation disease BEFREE Mutations of the human RecQ helicase genes WRN and BLM lead to rare autosomal recessive disorders, Werner and Bloom syndromes, which are associated with premature aging and cancer predisposition, including breast cancer. 19205873 2009
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		0.100 Biomarker disease BEFREE The premature aging and cancer-prone Werner and Bloom syndromes are caused by defects in the RecQ helicase enzymes WRN and BLM, respectively. 16412221 2006
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		0.100 GeneticVariation disease BEFREE Mutations of the human RecQ helicase genes WRN and BLM lead to rare autosomal recessive disorders, Werner and Bloom syndromes, which are associated with premature ageing and cancer predisposition. 16501249 2006
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		0.100 Biomarker disease BEFREE Bloom syndrome (BS) is characterized by premature aging and high predisposition to various types of cancer.BLM is the causative gene for BS. 11697506 2001
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		0.100 Biomarker disease BEFREE We discuss a new model, which explains how Sgs1 or BLM helicase suppresses premature ageing in yeast. 10620009 1999