PPT1, palmitoyl-protein thioesterase 1, 5538

N. diseases: 112; N. variants: 90
Disease: Infantile neuronal ceroid lipofuscinosis ×
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: rs137852696
rs137852696 		0.882 0.120 1 40092409 missense variant T/G snv 1.6E-05 5.6E-05
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2001 2001