Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE 28 disease-causing missense mutations are analyzed in the light of the TPP1 structure providing insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966 2009
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene. 10356316 1999
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Late-infantile neuronal ceroid lipofuscinosis (LINCL), an autosomal recessively inherited lysosomal storage disorder characterized by autofluorescent inclusions and rapid progression of neurodegeneration, is due to CLN2 gene mutations. 11339651 2001
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE Late infantile neuronal ceroid lipofuscinosis (LINCL) is caused by the deficiency of the lysosomal tripeptidyl peptidase-I encoded by CLN2. 14736728 2004
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Late infantile neuronal ceroid lipofuscinosis (Jansky-Bielchowsky disease) is a rare disease caused by mutations in the CLN2 gene. 22832778 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE CLN2 disease is a hereditary neurodegenerative disorder resulting from mutations in CLN2, which encodes the soluble lysosomal enzyme tripeptidyl peptidase-1 (TPP1). 24938720 2014
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) is a rare neurodegenerative disease caused by mutations in the Cln2 gene that leads to deficiency or loss of function of the tripeptidyl peptidase 1 (TPP1) enzyme. 28199020 2017
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindness, and early death. 28335910 2017
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE Late infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal inherited neurodegenerative disease caused by loss of lysosomal protease tripeptidyl peptidase 1 (TPP1). 28345005 2017
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare, progressive, fatal neurodegenerative pediatric disorder resulting from deficiencies of the lysosomal enzyme tripeptidyl peptidase 1 that are caused by mutations in TPP1. 31814335 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease 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
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE TPP1, encoding the tripeptidyl-peptidase 1 enzyme, is known as the causative gene for late infantile neuronal ceroid lipofuscinosis disease 2 (CLN2 disease). 23418007 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis). 27491216 2016
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis. 12950156 2003
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease MGD A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration. 15483130 2004
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease CTD_human A recent study has shown mutations in CLN2 gene, that encodes a novel lysosomal pepstatin-insensitive proteinase (LPIP), in the pathophysiology of late-infantile neuronal ceroid lipofuscinosis (LINCL). 10320038 1999
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE A total average dose of 2.5 10(12) particle units of an adeno-associated virus (AAV) serotype 2 vector expressing the human CLN2 cDNA (AAV2 CU h-CLN2) was administered to 12 locations in the CNS of 10 children with LINCL. 18473686 2008
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE An assay for the CLN2p/TPP-I based on the cleavage of amino terminal tripeptide from G-F-F-L-AFC was applied to prenatal and postnatal diagnosis of LINCL patients and heterozygote carriers. 11589010 2001
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Analysis of archival specimens indicates that several specimens previously classified as LINCL have enzyme activity and thus disease is unlikely to arise from mutations in CLN2. 10428067 1999
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE As previous reports show that the majority of the TPP1 mutations in NCL resulted in reduction or loss of enzyme activity, we suggest that <i>Dicyostelium</i> could be used as a model system in which to test new reagents that could affect the activity of the protein and ameliorate the disease. 28546289 2017
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Association of the R447H mutation with a delayed onset form of LINCL in two separate families raised the question of whether R447H CLN2 retains residual activity. 11462245 2001
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 AlteredExpression disease BEFREE Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis. 10679303 2000
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 Biomarker disease BEFREE Chronic treatment of LINCL mice with TPP1 and K16ApoE extended the lifespan from 126 to >294 days, diminished pathology, and slowed locomotor dysfunction. 28456380 2017
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Classic late-infantile NCL (Jansky-Bielschowsky disease) is caused by mutations in a gene encoding a pepstatin-insensitive lysosomal peptidase (CLN2 on chromosome 11p15), and juvenile-onset NCL (Batten disease) is caused by mutations in a gene encoding a 438-amino-acid membrane protein (CLN3 on chromosome 16p12) of unknown function. 10446748 1999