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: C3469526
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP F
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
CUI: C3469526
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP F
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
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 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 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 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 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 GeneticVariation disease BEFREE Many had mutations in Fanconi anemia complex genes [BRCA2 (3 participants), FANCF, FANCM]. 28687971 2018
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.100 GeneticVariation disease BEFREE Many had mutations in Fanconi anemia complex genes [BRCA2 (3 participants), FANCF, FANCM]. 28687971 2018
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.100 GeneticVariation disease BEFREE Currently, information on the phenotypic findings of patients with Fanconi anemia from biallelic mutations in FANCF is limited. 27714961 2017
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.100 GeneticVariation disease BEFREE Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing. 26033879 2015
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.100 GeneticVariation disease BEFREE It is the first report of a mutation in the FANCF gene in Iranian patients with Fanconi anemia. 31288759 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.060 GeneticVariation disease BEFREE The methylation of CpG islands in the FANCF gene plays an important role in occurrence of ovarian cancer and also is an important regulator of cisplatin sensitivity of ovarian cancer. 19813073 2011
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.060 GeneticVariation disease BEFREE The methylation of CpG islands in the FANCF gene plays an important role in occurrence of ovarian cancer and also is an important regulator of cisplatin sensitivity of ovarian cancer. 19813073 2011
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.060 GeneticVariation disease BEFREE The methylation of CpG islands in the FANCF gene plays an important role in occurrence of ovarian cancer and also is an important regulator of cisplatin sensitivity of ovarian cancer. 19813073 2011
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: 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: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 GeneticVariation group BEFREE In contrast, AF in FAF-4 was associated with a slow ventricular response and, with progression of the disease, junctional rhythm and cardiomyopathy. 12821245 2003
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: C3469526
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP F
FANCONI ANEMIA, COMPLEMENTATION GROUP F 		0.620 Biomarker disease CTD_human
CUI: C3469526
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP F
FANCONI ANEMIA, COMPLEMENTATION GROUP F 		0.620 Biomarker disease GENOMICS_ENGLAND How the fanconi anemia pathway guards the genome. 19686080 2009
CUI: C3469526
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP F
FANCONI ANEMIA, COMPLEMENTATION GROUP F 		0.620 Biomarker disease GENOMICS_ENGLAND
CUI: C3469526
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP F
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
CUI: C3469526
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP F
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
CUI: C3469526
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP F
FANCONI ANEMIA, COMPLEMENTATION GROUP F 		0.620 Biomarker disease GENOMICS_ENGLAND Evidence for at least eight Fanconi anemia genes. 9382107 1997