CPT2, carnitine palmitoyltransferase 2, 1376

N. diseases: 187; N. variants: 78
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1833518
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 24 0.700 None 1.000 15 24 1998 2016