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: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.010 Biomarker group BEFREE In 5 eyes (8.6%), differences were revealed between conventional FAF and UWF-FAF in detecting retinopathy. 31526798 2020
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
0.010 AlteredExpression disease BEFREE One novel lncRNA FGF9-associated factor (termed FAF) and mRNAs in AMI rats were verified by bioinformatics, real-time polymerase chain reaction or western blot. 31093967 2019
Multiple evanescent white dot syndrome
0.010 Biomarker disease BEFREE NIR-FAF and SD-OCT should be considered as non-invasive investigations in the detection of MEWDS-related foveal granularity. 28981397 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.010 Biomarker disease BEFREE Low-CNA SCCs tended to be HPV(+) and display hypermethylation with repression of TET1 demethylase and FANCF, previously linked to predisposition to SCC, or harbor mutations affecting CASP8, RAS-MAPK pathways, chromatin modifiers, and immunoregulatory molecules. 29617660 2018
CUI: C0034902
Disease: Pure Red-Cell Aplasia
Pure Red-Cell Aplasia
0.010 GeneticVariation disease BEFREE FANCF and LRP1B mutations may be associated with acquired PRCA. 29767669 2018
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.010 Biomarker phenotype BEFREE Peripheral FAF changes may have implications for diagnosis, prognosis, and management of individual patients with Stargardt disease. 28248825 2018
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast
0.010 Biomarker disease BEFREE This manuscript explores the intracellular fate of FAF in MDA-MB-468, a triple negative (ER-/PR-/HER2-) breast cancer line. 30386244 2018
CUI: C4733095
Disease: HER2-negative breast cancer
HER2-negative breast cancer
0.010 Biomarker disease BEFREE This manuscript explores the intracellular fate of FAF in MDA-MB-468, a triple negative (ER-/PR-/HER2-) breast cancer line. 30386244 2018
CUI: C0339543
Disease: Epiretinal Membrane
Epiretinal Membrane
0.010 Biomarker disease BEFREE Corresponding B-FAF images, vitreo-macular relations, and type of epiretinal membranes (ERMs) were also examined. 28405744 2017
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.010 Biomarker group BEFREE The purpose of this study was to examine possible genotypic/phenotypic correlations of UW-FAF patterns in patients with a variety of retinal dystrophies and retinitis pigmentosa (RP). 27880076 2017
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder)
0.010 Biomarker disease BEFREE UWF-FAF images may provide information for estimating peripheral and central visual function in STGD. 29038010 2017
CUI: C2609282
Disease: Reticular pseudodrusen
Reticular pseudodrusen
0.010 GeneticVariation disease BEFREE The most sensitive image modality for RPD was IR (93%), followed by FAF (92%), OCT (74%, RF (33%) and CFP (29%). 27768118 2017
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.010 PosttranslationalModification disease BEFREE CpG island methylation of FANCF gene promoter region is strongly associated with the susceptibility and clinicopathologic features of EOC. 26507869 2016
Secondary malignant neoplasm of lymph node
0.010 PosttranslationalModification disease BEFREE The FANCF promoter methylation rates showed significant differences in the comparisons stratified by age, International Federation of Gynecology and Obstetrics (FIGO) staging, histopathological classification, and lymph node metastasis (all P < .05). 26507869 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 GeneticVariation group BEFREE A careful examination of three electively aborted fetuses in one family and one affected girl in the other indicated an association of the FANCF loss-of-function mutation with a severe phenotype characterized by multiple malformations. 26033879 2015
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.010 Biomarker disease BEFREE Involvement of Fanconi anemia genes FANCD2 and FANCF in the molecular basis of drug resistance in leukemia. 25647473 2015
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast
0.010 PosttranslationalModification disease BEFREE FANCF methylation is a rare event in Japanese primary invasive breast cancer. 19813073 2011
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
0.010 PosttranslationalModification disease BEFREE No significant correlation was found between FANCF methylation and the expression of ER, PR, HER2, and TNBC. 19813073 2011
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.010 PosttranslationalModification disease BEFREE No significant correlation was found between FANCF methylation and the expression of ER, PR, HER2, and TNBC. 19813073 2011
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome
0.010 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: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 PosttranslationalModification group LHGDN In contrast, FANCF methylation was rare in breast tumors: one of 120 (0.8%). 17932744 2008
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 PosttranslationalModification group BEFREE In contrast, FANCF methylation was rare in breast tumors: one of 120 (0.8%). 17932744 2008
Malignant neoplasm of urinary bladder
0.010 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: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.010 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: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.010 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