NEDD4, NEDD4 E3 ubiquitin protein ligase, 4734

N. diseases: 101; N. variants: 8
Disease: Charcot-Marie-Tooth disease, Type 1C ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270913
Disease: Charcot-Marie-Tooth disease, Type 1C
Charcot-Marie-Tooth disease, Type 1C 		0.010 GeneticVariation disease BEFREE We examine three CMT1C-associated SIMPLE mutations and show that they do not affect the interaction with NEDD4 or TSG101, nor do they lead to altered subcellular localization. 16118794 2005