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: rs113993962
rs113993962
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		TAGATTC 0.700 CausalMutation CLINVAR Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. 23225144 2013
dbSNP: rs113993962
rs113993962
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		TAGATTC 0.700 CausalMutation CLINVAR Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. 17407155 2007
dbSNP: rs113993962
rs113993962
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		TAGATTC 0.700 CausalMutation CLINVAR Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal. 10521302 1999
dbSNP: rs113993962
rs113993962
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		TAGATTC 0.700 CausalMutation CLINVAR Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. 9758720 1998
dbSNP: rs113993962
rs113993962
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		TAGATTC 0.700 CausalMutation CLINVAR The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry. 9837821 1998
dbSNP: rs113993962
rs113993962
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		TAGATTC 0.700 CausalMutation CLINVAR The Bloom's syndrome gene product is homologous to RecQ helicases. 7585968 1995