PPT2, palmitoyl-protein thioesterase 2, 9374

N. diseases: 27; N. variants: 11
Disease: Infantile neuronal ceroid lipofuscinosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis 		0.020 GeneticVariation disease BEFREE The palmitoyl protein thioesterase-2 (PPT2) gene encodes a lysosomal thioesterase homologous to PPT1, which is the enzyme defective in the human disorder called infantile neuronal ceroid lipofuscinosis. 14528005 2003
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis 		0.020 Biomarker disease BEFREE PPT2 is located in the human major histocompatibility class III locus on chromosome 6p21.3, a position that rules out PPT2 as the causative gene in any of the NCLs at defined chromosomal loci. 10051407 1999