FANCL, FA complementation group L, 55120

N. diseases: 137; N. variants: 16
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3469528
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		0.610 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: C3469528
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		0.610 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: C3469528
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		0.610 GeneticVariation disease CLINVAR Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. 25239263 2015
CUI: C3469528
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		0.610 GeneticVariation disease CLINVAR FANCD2, FANCJ and BRCA2 cooperate to promote replication fork recovery independently of the Fanconi Anemia core complex. 25659033 2015
CUI: C3469528
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		0.610 Biomarker disease GENOMICS_ENGLAND Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. 25754594 2015
CUI: C3469528
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		0.610 Biomarker disease GENOMICS_ENGLAND Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. 25754594 2015
CUI: C3469528
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		0.610 Biomarker disease GENOMICS_ENGLAND Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. 25754594 2015
CUI: C3469528
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		0.610 GeneticVariation disease CLINVAR Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. 23613520 2013
CUI: C3469528
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		0.610 Biomarker disease GENOMICS_ENGLAND How the fanconi anemia pathway guards the genome. 19686080 2009
CUI: C3469528
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		0.610 Biomarker disease GENOMICS_ENGLAND Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 19405097 2009
CUI: C3469528
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		0.610 GeneticVariation disease CLINVAR Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 19405097 2009
CUI: C3469528
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		0.610 Biomarker disease GENOMICS_ENGLAND Effect of epitope position on neutralization by anti-human immunodeficiency virus monoclonal antibody 2F5. 16474160 2006
CUI: C3469528
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		0.610 Biomarker disease GENOMICS_ENGLAND A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. 12724401 2003
CUI: C3469528
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		0.610 CausalMutation disease CLINVAR
CUI: C3469528
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP L
FANCONI ANEMIA, COMPLEMENTATION GROUP L 		0.610 Biomarker disease CTD_human