BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
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 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE Bloom's syndrome (BS), a rare genetic disease, arises through mutations in both alleles of the BLM gene which encodes a 3'-5' DNA helicase identified as a member of the RecQ family. 11146546 2000
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE Bloom's syndrome (BS) is a rare recessive disorder caused by germline mutation of the BLM gene. 11487553 2001
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 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: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease LHGDN 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 		1.000 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 		1.000 GeneticVariation disease BEFREE Bloom syndrome is an autosomal recessive disorder associated with mutations in BLM gene encoding protein that belongs to the family of DNA helicases. 11781842 2001
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 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 		1.000 GeneticVariation disease BEFREE Bloom's syndrome (BS) which associates genetic instability and predisposition to cancer is caused by mutations in the BLM gene encoding a RecQ family 3'-5' DNA helicase. 14576316 2003
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE Bloom's syndrome (BS), a disorder associated with genomic instability and cancer predisposition, results from defects in the Bloom's helicase (BLM) protein. 15197177 2004
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 AlteredExpression disease LHGDN Bloom's syndrome (BS) is a cancer predisposition disorder caused by mutation of the BLM gene, encoding a member of the RecQ helicase family. 18682526 2008
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE Bloom syndrome is caused by homozygous mutations in BLM, which encodes a RecQ DNA helicase. 18787401 2008
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker disease BEFREE Bloom's syndrome (BS) is an inherited disorder caused by loss of function of the recQ-like BLM helicase. 23261817 2013
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE Bloom's syndrome causing missense mutations are found in the conserved helicase and RecQ C-terminal domain of BLM that interfere with helicase function. 23276657 2015
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 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 		1.000 GeneticVariation disease BEFREE Bloom syndrome is an autosomal recessive disorder caused by mutations in the RecQ family helicase BLM that is associated with growth retardation and predisposition to cancer. 25418155 2014
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker disease BEFREE BLM transfected into BS cells reduces the frequency of sister chromatid exchanges and restores BLM in the nucleus. 10069810 1999
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE BLM is a DNA helicase encoded by a gene which is mutated in persons with Bloom's syndrome. 10545272 1999
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker disease BEFREE BLM was identified as the causative gene for BS. 10762650 2000
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker disease BEFREE BLM, the protein altered in BS, is a RecQ DNA helicase. 10779560 2000
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker disease BEFREE BLM, the gene defective in Bloom's syndrome, encodes a 159-kDa protein possessing DNA-stimulated ATPase and ATP-dependent DNA helicase activities. 10825162 2000
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker disease BEFREE BLM, the protein defective in BS, is a RecQ-like helicase, presumed to function in DNA replication, recombination, or repair. 11309417 2001
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE BLM, the gene mutated in BS, encodes a member of the RecQ family of DNA helicases. 11691925 2001
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 GeneticVariation disease BEFREE BLM, the gene mutated in Bloom syndrome, has been cloned previously, and the BLM protein is a member of the RecQ family of DNA helicases. 12826610 2003
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		1.000 Biomarker disease BEFREE BLM, the gene defective in BS, encodes a DNA helicase thought to participate in genomic maintenance. 14517203 2003