BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs367543029
rs367543029
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. 17407155 2007
dbSNP: rs367543029
rs367543029
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR Functional interaction of p53 and BLM DNA helicase in apoptosis. 11399766 2001
dbSNP: rs367543029
rs367543029
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells. 10069810 1999
dbSNP: rs367543029
rs367543029
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR The Bloom's syndrome gene product is homologous to RecQ helicases. 7585968 1995