COX7B, cytochrome c oxidase subunit 7B, 1349

N. diseases: 104; N. variants: 3
Disease: Skin lesion ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037284
Disease: Skin lesion
Skin lesion 		0.010 GeneticVariation group BEFREE Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. 23122588 2012