FANCG, FA complementation group G, 2189

N. diseases: 132; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.320 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
0.320 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.320 GeneticVariation disease BEFREE Our results showed that patients, homozygous for the FANCG founder mutation, present with severe cytopenia but progress to bone marrow failure at similar ages to other individuals affected with FA of heterogeneous genotype. 25477267 2015
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.320 Biomarker disease GENOMICS_ENGLAND Molecular pathogenesis of Fanconi anemia: recent progress. 16493006 2006
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.320 Biomarker disease GENOMICS_ENGLAND The Fanconi anaemia group G gene FANCG is identical with XRCC9. 9806548 1998