SLC2A4RG, SLC2A4 regulator, 56731

N. diseases: 66; N. variants: 5
Disease: Charcot-Marie-Tooth Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.010 GeneticVariation disease BEFREE To our knowledge, this is the first report of mutations in a Rho GEF protein being involved in CMT. 17564959 2007