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: rs1057516261
rs1057516261
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		T 0.700 GeneticVariation CLINVAR Regulation of BLM Nucleolar Localization. 27657136 2016
dbSNP: rs1057516261
rs1057516261
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		T 0.700 GeneticVariation CLINVAR Localization of the Bloom syndrome helicase to punctate nuclear structures and the nuclear matrix and regulation during the cell cycle: comparison with the Werner's syndrome helicase. 10569803 1999
dbSNP: rs1057516261
rs1057516261
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0005859
Disease:
Bloom Syndrome 		T 0.700 GeneticVariation CLINVAR BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal. 9388480 1997