CRAT, carnitine O-acetyltransferase, 1384

N. diseases: 59; N. variants: 5
Disease: Mitochondrial respiratory chain defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		0.100 GeneticVariation phenotype CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020