BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
Disease: Small cell carcinoma of lung ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.020 GeneticVariation disease BEFREE An SNP, Val83Met, in the MTH1 (microtT homolog 1) gene encoding a triphosphatase that hydrolyzes pro-mutagenic oxidized nucleoside triphosphates, such as 8-hydroxy-dGTP and 2-hydroxy-dATP, showed the strongest and a significant association with SCLC risk [odds ratio (OR)=1.6, 95% confidence interval (CI): 1.2-2.2, P=0.004], while three other SNPs in the TP53, BLM and SNM1 genes, respectively, also showed marginal associations (0.05<P<0.1). 16774934 2006
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.020 Biomarker disease BEFREE SCLC cells (N417) were exposed to 111In-BLMC, BLM, or 111InCl3 (for control) for 1 hour, treated with colcemid, and chromosomal changes were analyzed. 1279317 1992