FANCF, FA complementation group F, 2188

N. diseases: 153; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
FANCONI ANEMIA, COMPLEMENTATION GROUP F
0.620 PosttranslationalModification disease BEFREE To assess the 5' CpG island methylation of Fanconi anemia, complementation group F (FANCF) gene in epithelial ovarian cancer (EOC) tissues and normal ovarian tissues and to investigate the relationship between FANCF methylation and clinicopathologic features and prognosis of EOC. 26507869 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP F
0.620 CausalMutation disease CLINVAR Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing. 26033879 2015
FANCONI ANEMIA, COMPLEMENTATION GROUP F
0.620 Biomarker disease BEFREE Fanconi anemia complementation group-F (FANCF) is a key factor to maintain the function of FA/BRCA, a DNA-damage response pathway. 22952942 2012
FANCONI ANEMIA, COMPLEMENTATION GROUP F
0.620 Biomarker disease GENOMICS_ENGLAND How the fanconi anemia pathway guards the genome. 19686080 2009
FANCONI ANEMIA, COMPLEMENTATION GROUP F
0.620 GeneticVariation disease CLINVAR A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients. 16084127 2005
FANCONI ANEMIA, COMPLEMENTATION GROUP F
0.620 CausalMutation disease CLINVAR A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients. 16084127 2005
FANCONI ANEMIA, COMPLEMENTATION GROUP F
0.620 CausalMutation disease CLINVAR The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. 10615118 2000
FANCONI ANEMIA, COMPLEMENTATION GROUP F
0.620 Biomarker disease GENOMICS_ENGLAND The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. 10615118 2000
FANCONI ANEMIA, COMPLEMENTATION GROUP F
0.620 GeneticVariation disease CLINVAR The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. 10615118 2000
FANCONI ANEMIA, COMPLEMENTATION GROUP F
0.620 Biomarker disease GENOMICS_ENGLAND Evidence for at least eight Fanconi anemia genes. 9382107 1997
FANCONI ANEMIA, COMPLEMENTATION GROUP F
0.620 Biomarker disease CTD_human
FANCONI ANEMIA, COMPLEMENTATION GROUP F
0.620 Biomarker disease GENOMICS_ENGLAND
CUI: C0023418
Disease: leukemia
leukemia
0.510 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.510 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0023418
Disease: leukemia
leukemia
0.510 Biomarker disease BEFREE Involvement of Fanconi anemia genes FANCD2 and FANCF in the molecular basis of drug resistance in leukemia. 25647473 2015
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.510 Biomarker disease BEFREE Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia. 14617007 2003
CUI: C0023418
Disease: leukemia
leukemia
0.510 CausalMutation disease CGI
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.510 CausalMutation disease CGI
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.500 GeneticVariation disease BEFREE It is the first report of a mutation in the FANCF gene in Iranian patients with Fanconi anemia. 31288759 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.500 GeneticVariation disease BEFREE Many had mutations in Fanconi anemia complex genes [BRCA2 (3 participants), FANCF, FANCM]. 28687971 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.500 GeneticVariation disease BEFREE Currently, information on the phenotypic findings of patients with Fanconi anemia from biallelic mutations in FANCF is limited. 27714961 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.500 Biomarker disease BEFREE The Fanconi anemia (FA)‑associated proteins FANCF and FANCD2 are important components of the FA pathway of DNA crosslink repair. 25647473 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.500 GeneticVariation disease BEFREE Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing. 26033879 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.500 Biomarker disease BEFREE We found that silencing of FANCF inactivated the FA/BRCA pathway by decreasing the monoubiquitination and focus formation of FANCD2 and reduced the function of the FA/BRCA pathway, resulting in the inhibition of cell proliferation, increased cell apoptosis and DNA damage in OVCAR3 cells. 23440494 2013
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.500 Biomarker disease BEFREE Six small molecules, including bortezomib (proteasome inhibitor), CA-074-Me (cathepsin B inhibitor) and 17-AAG (HSP90 inhibitor), synergized with cisplatin specifically in FA-proficient ovarian cancer cells (2008 + FANCF), but not in FA-deficient isogenic cells (2008). 22537224 2012