CPQ, carboxypeptidase Q, 10404

N. diseases: 87; N. variants: 1
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		0.010 GeneticVariation disease BEFREE There are 35 missense mutations among 68 different mutations in the TPP1 gene, which encodes tripeptidyl peptidase I (TPPI), a lysosomal aminopeptidase associated with classic late-infantile neuronal ceroid lipofuscinosis (CLN2 disease). 20340139 2010