Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.050 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)
0.050 GeneticVariation disease BEFREE These patients belonged to complementation groups FA-A (n = 3), FA-G (n = 1) and FA-I (n = 1). 24989076 2015
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.050 GeneticVariation disease BEFREE To identify the gene underlying Fanconi anemia (FA) complementation group I we studied informative FA-I families by a genome-wide linkage analysis, which resulted in 4 candidate regions together encompassing 351 genes. 17452773 2007
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.050 Biomarker disease BEFREE In this study we show that cells derived from patients from the new complementation groups, FA-I, FA-J and FA-L are all proficient in DNA damage induced Rad51 foci formation, making the cells from FA-D1/BRCA2 patients that are defective in this process the sole exception. 16154163 2006
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.050 Biomarker disease BEFREE Both FA-I and -J cell lines were capable of forming an FA multiprotein core complex. 14630800 2004