Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease 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
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
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE These data provide new insights into TPP1 function and represent a valuable resource for constructing improved TPP1 variants for treatment of late infantile neuronal ceroid lipofuscinosis. 19038967 2009
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis. 9653647 1998
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE We identified a novel nonsense CLN2 mutation (Q509X) in three Italian children with classical late-infantile neuronal ceroid lipofuscinosis (LINCL) from two unrelated families. 10862088 2000
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 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
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 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 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 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 GeneticVariation disease BEFREE Spectrum of ocular manifestations in CLN2-associated batten (Jansky-Bielschowsky) disease correlate with advancing age and deteriorating neurological function. 24015292 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE Most of the patients, 9 of 11 (81.8%), were CLN2 type (late-infantile neuronal ceroid lipofuscinosis or Jansky-Bielschowsky), and 2 patients were the atypical type. 17690061 2007
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 Furthermore, the assay could be easily combined with a TPP1 enzyme assay (for CLN2 disease) and can be potentially multiplexed with a large panel of additional lysosomal enzyme assays by MS/MS for newborn screening and postscreening analysis. 30204428 2018
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 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 Successful PGD for late infantile neuronal ceroid lipofuscinosis achieved by combined chromosome and TPP1 gene analysis. 23768618 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE The late-infantile Batten disease or late-infantile neuronal ceroid lipofuscinosis (LINCL) is an autosomal recessive lysosomal storage disorder caused by mutations in the Cln2 gene leading to deficiency of lysosomal enzyme tripeptidyl peptidase 1 (TPP1). 30928643 2019
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 GeneticVariation disease BEFREE We update on the spectrum of TPP1 variants associated with CLN2 disease, comprising 131 unique variants from 389 individuals (717 alleles) collected from the literature review, public databases, and laboratory communications. 31283065 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.800 GeneticVariation disease BEFREE We have collected 122 late-infantile neuronal ceroid lipofuscinosis (LINCL, CLN2) and 191 juvenile NCL (JNCL, CLN3) cases, diagnosed on the basis of age-at-onset, clinical symptomatology, and pathological findings and representing the most common forms of NCL in the United States, and Europe. 9377079 1997
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 Further analysis of all reported TPP1 mutations revealed that the LINCL group had a significantly higher frequency of truncating and invariant splice-site mutations than the JNCL group. 31059981 2019
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