FANCC, FA complementation group C, 2176

N. diseases: 218; N. variants: 90
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.410 Biomarker disease GENOMICS_ENGLAND Discussing and managing hematologic germ line variants. 27881370 2016
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.410 Biomarker disease GENOMICS_ENGLAND Molecular pathogenesis of Fanconi anemia: recent progress. 16493006 2006
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.410 Biomarker disease BEFREE We conclude that in spite of the well-documented in vitro apoptotic tendency of FA-phenotype hematopoietic cells, the in vivo administration of IFN-gamma with and without subsequent fas ligation does not induce bone marrow failure in FANCC(-/-) (129SvJ strain) mice. 12423678 2002
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.410 Biomarker disease GENOMICS_ENGLAND Cloning of cDNAs for Fanconi's anaemia by functional complementation. 1574115 1992
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.410 Biomarker disease HPO