CRAT, carnitine O-acetyltransferase, 1384

N. diseases: 59; N. variants: 5
Disease: Carnitine Acetyltransferase Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1443228
Disease: Carnitine Acetyltransferase Deficiency
Carnitine Acetyltransferase Deficiency 		0.110 GeneticVariation phenotype BEFREE Although a single recessive variant in CRAT has been recently associated with neurodegeneration with brain iron accumulation (NBIA), this study reports the first kinetic analysis of naturally occurring CRAT variants and demonstrates the genetic basis of carnitine acetyltransferase deficiency in a case of mitochondrial encephalopathy. 31448845 2020
CUI: C1443228
Disease: Carnitine Acetyltransferase Deficiency
Carnitine Acetyltransferase Deficiency 		0.110 GeneticVariation phenotype CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845 2020