Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.090 Biomarker disease BEFREE FANCM is a DNA translocase that can form independent functional interactions with the BLM-TOP3A-RMI (BTR) complex and the Fanconi anemia (FA) core complex. 31138797 2019
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.090 Biomarker disease BEFREE RUNX Poly(ADP-Ribosyl)ation and BLM Interaction Facilitate the Fanconi Anemia Pathway of DNA Repair. 30110632 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.090 Biomarker disease BEFREE The FANCJ DNA helicase, mutated in another chromosomal instability disorder known as Fanconi Anemia, is an important player that likely coordinates with BLM in the balancing act. 30209988 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.090 Biomarker disease BEFREE Here we show that loss of the BLM helicase complex suppresses FANCC phenotypes and we confirm this interaction in cells deficient for FA complementation group I and D2 (FANCI and FANCD2) that function as part of the FA I-D2 complex, indicating that this interaction is not limited to the FA core complex, hence demonstrating that systematic genome-wide screening approaches can be used to reveal genetic viable interactions for DNA repair defects. 29089570 2017
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.090 AlteredExpression disease BEFREE Here we report that BLM is involved in the early activation of FA group D2 protein (FANCD2). 27083049 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.090 GeneticVariation disease BEFREE Our analysis identified families with heterozygous, deleterious mutations in the DNA repair genes FANCC and BLM, which are responsible for the autosomal recessive disorders Fanconi Anemia and Bloom syndrome. 23028338 2012
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.090 Biomarker disease BEFREE Based on evidence that BLM and FANCJ interact we suggest that crosstalk between BLM and FA pathways is more complex than previously thought. 22024395 2012
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.090 GeneticVariation disease BEFREE BS and FA group J arise from mutations in the BLM and FANCJ genes, respectively, which encode DNA helicases. 21240188 2011
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.090 Biomarker disease BEFREE Our study provides the first biochemical characterization of a multiprotein FA complex and suggests a connection between the BLM and FA pathways of genomic maintenance. 12724401 2003