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
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease BEFREE FANCF protein is a component of the FA core complex. 19813073 2011
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease GENOMICS_ENGLAND How the fanconi anemia pathway guards the genome. 19686080 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease BEFREE MM1 interacts with the FA core complex by binding to FANCF, whereas MM2 interacts with RM1 and topoisomerase IIIalpha, components of the BS complex. 20064461 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 PosttranslationalModification disease BEFREE However, only a single leukaemic case with methylation of one of the FA-BRCA genes has been described to date, i.e. methylation of FANCF in cell line CHRF-288. 18607065 2008
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease BEFREE These low proportions suggest that in contrast to other types of tumors silencing of FANCF is a rare event in bladder cancer and that an intact FA/BRCA pathway might be advantageous for tumor progression. 18000367 2007
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 PosttranslationalModification disease BEFREE Inactivation of the Fanconi Anemia (FANC-BRCA) pathway via promoter methylation of the FANCF gene has been proposed to be responsible for variation in cisplatinum (CDDP) sensitivity seen in ovarian and HNSCCs. 16466850 2007
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 PosttranslationalModification disease BEFREE Affected cellular pathways may be modulated in sporadic malignancies and silencing of FANCF through methylation has been shown to cause somatic disruption of the FA pathway. 16803569 2006
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 PosttranslationalModification disease BEFREE Methylation-induced inactivation of FANCF plays an important role in the occurrence of ovarian cancers via disrupting the FA-BRCA pathway. 16418574 2006
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease BEFREE Three-hybrid experiments also demonstrated the ability of FANCE to mediate the interaction between FA core complex components FANCC and FANCF, indicating an additional role for FANCE in complex assembly. 16127171 2005
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 PosttranslationalModification disease BEFREE Promoter hypermethylation of FANCF: disruption of Fanconi Anemia-BRCA pathway in cervical cancer. 15126331 2004
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 GeneticVariation disease CLINVAR The Fanconi anemia gene product FANCF is a flexible adaptor protein. 15262960 2004
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 PosttranslationalModification disease BEFREE A new model of ovarian cancer tumor progression implicates aberrant FANCF promoter methylation that is associated with gene silencing and disruption of the Fanconi-anemia-BRCA pathway. 12781358 2003
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease BEFREE Previous work has shown that the AML cell line CHRF-288, derived from a sporadic AML-M7 patient, does not express FANCF protein and exhibits a cellular FA phenotype. 14617007 2003
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 GeneticVariation disease BEFREE Fanconi anaemia (FA) comprises a group of autosomal recessive disorders resulting from mutations in one of eight genes (FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF and FANCG). 12001267 2002
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 AlteredExpression disease BEFREE FANCF protein expression is normal in cells derived from all FA complementation groups except FA-F and does not vary during cell cycle progression. 11750104 2001
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease BEFREE The recent cloning of the FANCF and FANCE genes has allowed us to investigate the interaction of the proteins encoded by five of the seven complementation groups of FA. 11157805 2001
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 Biomarker disease GENOMICS_ENGLAND The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. 10615118 2000
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.500 CausalMutation disease CLINVAR
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		0.400 Biomarker phenotype GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.400 Biomarker group GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		0.400 Biomarker phenotype HPO
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.400 Biomarker group HPO
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.300 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.300 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017