CRAT, carnitine O-acetyltransferase, 1384

N. diseases: 59; N. variants: 5
Disease: Respiratory Insufficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 GeneticVariation phenotype CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020