Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.700 CausalMutation disease CLINVAR
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.700 Biomarker disease BEFREE Our data suggest that PHF9 has a crucial role in the Fanconi anemia pathway as the likely catalytic subunit required for monoubiquitination of FANCD2. 12973351 2003
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.700 Biomarker disease LHGDN Our data suggest that PHF9 has a crucial role in the Fanconi anemia pathway as the likely catalytic subunit required for monoubiquitination of FANCD2. 12973351 2003
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.700 Biomarker disease CTD_human Our data suggest that PHF9 has a crucial role in the Fanconi anemia pathway as the likely catalytic subunit required for monoubiquitination of FANCD2. 12973351 2003
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.700 GeneticVariation disease CLINVAR Our data suggest that PHF9 has a crucial role in the Fanconi anemia pathway as the likely catalytic subunit required for monoubiquitination of FANCD2. 12973351 2003
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.700 Biomarker disease BEFREE We previously purified a Fanconi anemia core complex containing the FANCL ubiquitin ligase and six other Fanconi anemia-associated proteins. 16116422 2005
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.700 Biomarker disease BEFREE Seven Fanconi anemia-associated proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG and FANCL) form a nuclear Fanconi anemia core complex that activates the monoubiquitination of FANCD2, targeting FANCD2 to BRCA1-containing nuclear foci. 16116424 2005
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
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
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.700 Biomarker disease BEFREE Two new FA genes, FANCB and FANCL, have recently been identified, and their discovery has allowed a more detailed study into the molecular architecture of the FA pathway. 16720839 2006
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.700 Biomarker disease GENOMICS_ENGLAND Effect of epitope position on neutralization by anti-human immunodeficiency virus monoclonal antibody 2F5. 16474160 2006
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.700 Biomarker disease BEFREE Here, we demonstrate that the WD40 repeats of FANCL are required for interaction with other subunits of the FA complex. 16474167 2006
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.700 Biomarker disease BEFREE To test the hypothesis that the FA network is conserved in vertebrate genomes, we cloned and sequenced zebrafish (Danio rerio) cDNAs and/or genomic BAC clones orthologous to all nine cloned FA genes (FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL), and identified orthologs in the genome database for the pufferfish Tetraodon nigroviridis. 16515849 2006
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
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
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.700 GeneticVariation disease CLINVAR Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI. 19111657 2008
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
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
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
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
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
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
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.700 Biomarker disease GENOMICS_ENGLAND How the fanconi anemia pathway guards the genome. 19686080 2009
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
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
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
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
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
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
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.700 GeneticVariation disease CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520 2013
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
0.700 GeneticVariation disease CLINVAR Structure of the human FANCL RING-Ube2T complex reveals determinants of cognate E3-E2 selection. 24389026 2014
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
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