Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395

2016
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation 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
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation 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
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation 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
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation CLINVAR Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI. 19111657

2008
Entrez Id: 55120
Gene Symbol: FANCL
FANCL
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation 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
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 GeneticVariation 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
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.700 CausalMutation CLINVAR