TPP1, tripeptidyl peptidase 1, 1200

N. diseases: 151; N. variants: 73
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Mutations in tripeptidyl peptidase 1 (<i>TPP1</i>) have been associated with late infantile neuronal ceroid lipofuscinosis (NCL), a neurodegenerative disorder. 28546289 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Tripeptidyl peptidase 1 (TPP1) deficiency causes CLN2 disease, late infantile (or classic late infantile neuronal ceroid lipofuscinosis), a paediatric neurodegenerative disease of autosomal recessive inheritance. 23587805 2013
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Late infantile neuronal ceroid lipofuscinosis (LINCL), one form of Batten's disease is a progressive neurodegenerative disorder resulting from a CLN2 gene mutation. 24015292 2013
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Tripeptidyl aminopeptidase I (TPPI) is a crucial lysosomal enzyme that is deficient in the fatal neurodegenerative disorder called classic late-infantile neuronal ceroid lipofuscinosis (LINCL). 20689811 2010
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Mutations in tripeptidyl-peptidase I (TPP I) underlie the classic late-infantile form of neuronal ceroid lipofuscinoses (CLN2), the most common neurodegenerative disorders of childhood. 16895480 2006
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE The classic late infantile neuronal ceroid lipofuscinosis (LINCL, CLN2) is a fatal neurodegenerative disorder that results from mutations in a gene encoding a lysosomal proteinase, known as CLN2 protease (CLN2p) or tripeptidyl peptidase I (TPP-I). 11589010 2001
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Classical late-infantile neuronal ceroid lipofuscinosis (LINCL), a progressive and fatal neurodegenerative disease of childhood, results from mutations in a gene (CLN2) that encodes a protein with significant sequence similarity to prokaryotic pepstatin-insensitive acid proteases. 10428067 1999
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Classical late-infantile neuronal ceroid lipofuscinosis (LINCL; CLN2) is an inherited neurodegenerative disorder of childhood characterized by seizures, loss of vision, and progressive motor and mental deterioration. 10737126 1998
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Mutations in the CLN2 gene result in classical late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal childhood neurodegenerative disease. 9653647 1998
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE The neuronal ceroid lipofuscinoses (NCL) are a relatively frequent group of progressive neurodegenerative disorders in children with similar, but not identical, clinical and morphological features, entailing different clinical groups, some of which have been found to represent different genetic entities, ie, infantile (INCL) or CLN1, late-infantile (LINCL) or CLN2, juvenile (JNCL) or CLN3, and a Finnish variant of LINCL or CLN5. 8969009 1996