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: rs367543043
rs367543043
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		G 0.700 CausalMutation CLINVAR Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 27959697 2017
dbSNP: rs367543043
rs367543043
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		G 0.700 CausalMutation CLINVAR Uncovering the genomic heterogeneity of multifocal breast cancer. 25850943 2015
dbSNP: rs367543043
rs367543043
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		G 0.700 CausalMutation CLINVAR Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. 17407155 2007
dbSNP: rs367543043
rs367543043
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		GA 0.700 CausalMutation CLINVAR Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. 17407155 2007
dbSNP: rs367543043
rs367543043
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		GA 0.700 CausalMutation CLINVAR The Bloom's syndrome gene product is homologous to RecQ helicases. 7585968 1995