FANCL, FA complementation group L, 55120

N. diseases: 137; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease BEFREE We report here a FANCL founder variant, anticipated to be synonymous, c.1092G>A;p.K364=, but demonstrated to induce aberrant splicing, c.1021_1092del;p.W341_K364del, that accounts for the onset of FA in 13 cases from South Asia, 12 from India and one from Pakistan. 31513304 2020
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE The FA core complex comprises two central dimers of the FANCB and FA-associated protein of 100 kDa (FAAP100) subunits, flanked by two copies of the RING finger subunit, FANCL. 31666700 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE Small-Molecule Inhibition of UBE2T/FANCL-Mediated Ubiquitylation in the Fanconi Anemia Pathway. 31525021 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE To address this question, we generated cellular knock-out models of FA core complex components and FANCD2 and found that FANCD2-null mutants display higher levels of spontaneous chromosomal damage and hypersensitivity to replication-blocking lesions than Fanconi anemia complementation group L (FANCL)-null mutants, suggesting that FANCD2 provides a basal level of DNA protection countering endogenous lesions in the absence of monoubiquitination. 29021208 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE Fanconi anemia (FA) is a congenital disorder manifested with elevated sensitivity toward DNA interstrand cross-linking agents, and monoubiquitination of FANCD2 by FANCL is a crucial step in FA-mediated DNA repair. 28535027 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease BEFREE Here we describe a Chinese girl with FA-L caused by a novel homozygous mutation c.822_823insCTTTCAGG (p.Asp275LeufsX13) in the FANCL gene. 28419882 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease BEFREE In the current cohort, the increased mutation load of FANCD2, FANCE, and FANCL variants among younger patients with HNSCC indicates the importance of the FA pathway in HNSCC.Cancer 2017;123:3943-54.© 2017 American Cancer Society. 28678401 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE The "FA core complex" contains the RING-E3 ligase FANCL and seven other essential proteins that are mutated in various FA subtypes. 27986371 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE We found that acquired cisplatin-resistant NSCLC-derived A549/DR cells exhibited markedly enhanced FA and HR repair pathway capacities compared to its parental A549 cells and another independent NSCLC-derived cell line, Calu-1, which possesses a moderate innate resistance to cisplatin. siRNA-mediated silencing of the FA-associated genes FANCL and RAD18 and the HR-associated genes BRCA1 and BRCA2 significantly potentiated the sensitivity of A549/DR cells to cisplatin compared to A549 and Calu-1 cells, suggesting that the acquired cisplatin resistance in A549/DR cells may be attributed to enhanced FA and HR pathway capacities responsible for ICL repair. 27473273 2016
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease BEFREE We used ectopic expression of wild-type FANCL to functionally correct the cellular FA phenotype for both mutations. 25754594 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease GENOMICS_ENGLAND We used ectopic expression of wild-type FANCL to functionally correct the cellular FA phenotype for both mutations. 25754594 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease CLINVAR Structure of the human FANCL RING-Ube2T complex reveals determinants of cognate E3-E2 selection. 24389026 2014
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520 2013
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 AlteredExpression disease BEFREE Indeed, a higher level of FAVL expression can promote the growth of bladder cancer cells in vitro and in vivo, which, at least partly, results from FAVL perturbation of FANCL expression, an essential factor for the activation of the FA pathway. 22828653 2012
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease BEFREE However, there are macromolecular differences between the FANCL proteins that may account for the apparent distinctions in core complex requirements between the vertebrate and invertebrate FA pathways. 21775430 2011
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease CLINVAR Eight FA proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL and FANCM) and three non-FA proteins (FAAP100, FAAP24 and HES1) form an FA nuclear core complex, which is required for monoubiquitination of the FANCD2-FANCI dimer upon DNA damage. 19405097 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease CTD_human Eight FA proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL and FANCM) and three non-FA proteins (FAAP100, FAAP24 and HES1) form an FA nuclear core complex, which is required for monoubiquitination of the FANCD2-FANCI dimer upon DNA damage. 19405097 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease BEFREE Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 19405097 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease GENOMICS_ENGLAND How the fanconi anemia pathway guards the genome. 19686080 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 Biomarker disease GENOMICS_ENGLAND Eight FA proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL and FANCM) and three non-FA proteins (FAAP100, FAAP24 and HES1) form an FA nuclear core complex, which is required for monoubiquitination of the FANCD2-FANCI dimer upon DNA damage. 19405097 2009
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease CLINVAR Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI. 19111657 2008
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation disease CLINVAR UBE2T, the Fanconi anemia core complex, and FANCD2 are recruited independently to chromatin: a basis for the regulation of FANCD2 monoubiquitination. 17938197 2007
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 AlteredExpression disease BEFREE Collectively, the abnormal FANCL expression is the cause leading to a defective FA-BRCA pathway, which confers the sensitivity of Calu-6 cells to MMC. 17106252 2006