FASTKD2, FAST kinase domains 2, 22868

N. diseases: 60; N. variants: 3
Disease: FASTKD2-related infantile mitochondrial encephalomyopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4755278
Disease: FASTKD2-related infantile mitochondrial encephalomyopathy
FASTKD2-related infantile mitochondrial encephalomyopathy 		0.300 GermlineCausalMutation disease ORPHANET FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. 18771761 2008