RFWD3, ring finger and WD repeat domain 3, 55159

N. diseases: 119; N. variants: 5
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4521564
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W
FANCONI ANEMIA, COMPLEMENTATION GROUP W 		0.400 GeneticVariation disease UNIPROT Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia. 28691929 2017
CUI: C4521564
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W
FANCONI ANEMIA, COMPLEMENTATION GROUP W 		0.400 GeneticVariation disease UNIPROT RPA-Mediated Recruitment of the E3 Ligase RFWD3 Is Vital for Interstrand Crosslink Repair and Human Health. 28575657 2017
CUI: C4521564
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W
FANCONI ANEMIA, COMPLEMENTATION GROUP W 		0.400 CausalMutation disease CLINVAR