COX6A1, cytochrome c oxidase subunit 6A1, 1337

N. diseases: 18; N. variants: 2
Disease: Peroneal muscular atrophy (axonal type) (hypertrophic type) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2875300
Disease: Peroneal muscular atrophy (axonal type) (hypertrophic type)
Peroneal muscular atrophy (axonal type) (hypertrophic type) 		0.200 Biomarker disease MGD A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. 25152455 2014