Disease: Fanconi Anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.050 Biomarker disease BEFREE FAAP20 is a key component of the FA core complex, and regulated proteolysis of FAAP20 mediated by the ubiquitin E3 ligase SCFFBW7 is critical for maintaining the integrity of the FA complex and FA pathway signaling. 30789902 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.050 Biomarker disease BEFREE The novel mutation is located in exon 35 in the FAAP20-binding domain which plays a crucial role in the <i>FANCA</i>-FAAP20 interaction and is required for integrity of the fanconi anemia pathway. 29400309 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.050 Biomarker disease BEFREE Here, we report that deletion of Faap20 in mice led to a mild FA-like phenotype with defects in the reproductive and hematopoietic systems. 25917546 2015
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.050 Biomarker disease BEFREE These findings reveal critical roles for FAAP20 in the FA-BRCA pathway of DNA damage repair and genome maintenance. 22343915 2012
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.050 Biomarker disease BEFREE Thus, the RNF8-FAAP20 ubiquitin cascade is critical for recruiting FA core complex to ICLs and for normal function of the FA network. 22705371 2012