FANCA, FA complementation group A, 2175

N. diseases: 211; N. variants: 206
Disease: Pancytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.420 GeneticVariation disease BEFREE However, patients with FANCG mutations had inferior BMF-free survival and received hematopoietic stem cell transplantation (HSCT) at a younger age than those with FANCA mutations. 30368588 2019
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.420 Biomarker disease BEFREE Fanconi Anemia (FA) is an autosomal recessive syndrome characterized by congenital abnormalities, progressive bone marrow failure and Fanconi anemia complementation group A (FANCA) is also a potential breast and ovarian cancer susceptibility gene. 28440412 2017
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.420 Biomarker disease GENOMICS_ENGLAND Molecular pathogenesis of Fanconi anemia: recent progress. 16493006 2006
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.420 Biomarker disease GENOMICS_ENGLAND Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. 8896563 1996
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.420 Biomarker disease HPO