Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1384
Gene Symbol: CRAT
CRAT
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.100 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845

2020