BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
Disease: Bloom Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853152
rs137853152
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		0.700 GeneticVariation UNIPROT Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome. 10862105 2000
dbSNP: rs137853152
rs137853152
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		0.700 GeneticVariation UNIPROT Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. 9285778 1997
dbSNP: rs137853152
rs137853152
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		0.700 GeneticVariation UNIPROT The Bloom's syndrome gene product is homologous to RecQ helicases. 7585968 1995