PPT1, palmitoyl-protein thioesterase 1, 5538

N. diseases: 112; N. variants: 90
Disease: Infantile neuronal ceroid lipofuscinosis ×
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: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 22 4 0.600 limited 0.951 41 4 1996 2019