PPT1, palmitoyl-protein thioesterase 1, 5538

N. diseases: 112; N. variants: 90
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs386833651
rs386833651 		0.925 0.120 1 40089409 splice donor variant C/T snv
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0