CHPT1, choline phosphotransferase 1, 56994

N. diseases: 253; N. variants: 7
Disease: Carnitine palmitoyl transferase 2 deficiency ×
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: C0342790
Disease: Carnitine palmitoyl transferase 2 deficiency
Carnitine palmitoyl transferase 2 deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 11 29 0.030 None 1.000 3 1994 2014