Disease: Fanconi Anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 GeneticVariation disease BEFREE ERCC4 mutations have been known to cause xeroderma pigmentosum complementation group F (XP-F), Cockayne syndrome, and Fanconi anemia phenotypes. 29403087 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 Biomarker disease BEFREE However, mutated XPF/ERCC4/FANCQ protein in our patient's cells, as in the two other patients with FA-Q, was detectable on chromatin, in contrast to XP-F cells, where missense-mutant protein failed to properly translocate to the nucleus. 29325523 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 GeneticVariation disease BEFREE The immunoprecipitation assay of cell extracts revealed that those XPF mutations, except XPF(C236R), located in the SLX4-interacting region cause instability of XPF protein, which could be the reason for the FA, progeria and/or CS phenotypes. 26453996 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 GeneticVariation disease BEFREE Given that, mutations in XPF can also lead to Fanconi anemia, we propose collaborations between Fanconi anemia, NER, and MMR are necessary to initiate checkpoint activation in replicating human cells to limit genomic instability. 24351291 2014
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 GeneticVariation disease BEFREE Different cancer syndromes such as a subtype of Xeroderma pigmentosum, XPF, and recently a subtype of Fanconi Anemia, FA-Q, have been attributed to biallelic ERCC4 gene mutations. 24465539 2014
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 GermlineCausalMutation disease ORPHANET Further biochemical and functional analysis demonstrated that the identified FA-causing ERCC4 mutations strongly disrupt the function of XPF in DNA ICL repair without severely compromising nucleotide excision repair. 23623386 2013
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 GeneticVariation disease BEFREE Our results, together with those from Bogliolo et al., who describe XPF alterations resulting in FA alone, indicate a multifunctional role for XPF. 23623389 2013
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 GeneticVariation disease BEFREE Further biochemical and functional analysis demonstrated that the identified FA-causing ERCC4 mutations strongly disrupt the function of XPF in DNA ICL repair without severely compromising nucleotide excision repair. 23623386 2013
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 GeneticVariation disease BEFREE Finally, we identified additional bone-fide FA ERCC4 mutations specifically disrupting interstrand cross-link repair. 24027083 2013
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 Biomarker disease BEFREE Cells defective in the FA pathway or other factors involved in ICL processing, such as XPF and DNA Polζ, are all hypersensitive to killing by 6-TG/UVA-consistent with a significant contribution of photochemical ICLs to the cytotoxicity of this treatment. 21723207 2011
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 Biomarker disease BEFREE XPF-ERCC1 participates in the Fanconi anemia pathway of cross-link repair. 19805513 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.600 AlteredExpression disease LHGDN Deficiency in incisions produced by XPF at the site of a DNA interstrand cross-link in Fanconi anemia cells. 18020456 2007