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: rs113993962
rs113993962
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TAGATTC 0.700 CausalMutation CLINVAR A common nonsense mutation of the BLM gene and prostate cancer risk and survival. 24096176 2013
dbSNP: rs113993962
rs113993962
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TAGATTC 0.700 CausalMutation CLINVAR High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia. 21815139 2012
dbSNP: rs113993962
rs113993962
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TAGATTC 0.700 CausalMutation CLINVAR Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development. 15726604 2005
dbSNP: rs113993962
rs113993962
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TAGATTC 0.700 CausalMutation CLINVAR Heterozygosity for the BLM(Ash) mutation and cancer risk. 12702560 2003
dbSNP: rs113993962
rs113993962
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TAGATTC 0.700 CausalMutation CLINVAR BLM heterozygosity and the risk of colorectal cancer. 12242432 2002
dbSNP: rs113993962
rs113993962
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TAGATTC 0.700 CausalMutation CLINVAR Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews. 10090915 1999
dbSNP: rs113993962
rs113993962
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TAGATTC 0.700 CausalMutation CLINVAR A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene. 9482582 1998
dbSNP: rs113993962
rs113993962
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TAGATTC 0.700 CausalMutation CLINVAR The Bloom's syndrome gene product is homologous to RecQ helicases. 7585968 1995