Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
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
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
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
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
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
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
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
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.050 Biomarker disease BEFREE Both FA-I and -J cell lines were capable of forming an FA multiprotein core complex. 14630800 2004