Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE Ubiquitin-conjugating enzyme E2T (UBE2T) is served to connect with particular E3 ubiquitin ligase to degraded-related substrates, contributing to DNA repair in the Fanconi anemia pathway. 30622320 2019
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE In cultured cancer cells the E3 ubiquitin ligase Rad18 activates Trans-Lesion Synthesis (TLS) and the Fanconi Anemia (FA) pathway. 26883629 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 GeneticVariation disease BEFREE UBE2T is known to interact with FANCL, the E3 ubiquitin-ligase component of the multiprotein FA core complex, and is necessary for the monoubiquitination of FANCD2 and FANCI. 26119737 2015
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE A central player in the pathway is a multisubunit E3 ubiquitin ligase complex or the FA core complex, which monoubiquitinates its substrates FANCD2 and FANCI. 24451376 2014
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE Here we provide evidence that FANCL, the E3 ubiquitin ligase of the Fanconi anemia pathway, is constitutively targeted for degradation by the proteasome. 23783032 2013
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 AlteredExpression disease BEFREE However, it is not known whether loss of E3 ubiquitin ligase activity accounts for the hematopoietic stem cell defects characteristic of Fanconi anemia. 22653977 2012
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE The central player of the FA pathway is the multi-subunit E3 ubiquitin ligase complex activated through a replication- and DNA damage-dependent mechanism. 21109493 2011
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 AlteredExpression disease BEFREE Eight FA proteins form a nuclear complex harboring E3 ubiquitin ligase activity (the FA core complex) that, in response to DNA damage, mediates the monoubiquitylation of the FA protein FANCD2. 18047734 2007
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE FANCL, which possesses three WD40 repeats and a plant homeodomain (PHD), is the putative E3 ubiquitin ligase subunit of the FA complex. 16474167 2006
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE This FA core complex possesses a putative helicase and an E3 ubiquitin ligase subunit, is assembled in both the nucleoplasm and in chromatin, and is required for the mono-ubiquitination of FANCD2, a downstream FA protein, following genotoxic stress. 16784902 2006