Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease. 31283065 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE We have conducted proteomic analyses of brain and cerebrospinal fluid (CSF) from mouse models of the most frequently diagnosed NCL diseases: CLN1 (infantile NCL), CLN2 (classical late infantile NCL) and CLN3 (juvenile NCL). 31501224 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE CLN2 disease is a genetic disorder caused by dysfunction of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1) that belongs to the neuronal ceroid lipofuscinoses (NCL) and leads to epilepsy, dementia, and death in young persons. 30771299 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes respectively. 30541466 2018
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 AlteredExpression disease BEFREE Interestingly, TPP1 activity in serum only consisted of a neutral form, no acidic form, and was not deficient in any NCL 2 patient. 29599076 2018
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses. 29631617 2018
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE Mutations of the CLN2 gene encoding a soluble lysosomal enzyme, tripeptidyl peptidase 1 (TPP1), cause late infantile NCL/CLN2 disease. 28464005 2017
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression. 28079862 2017
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE Gemfibrozil has shown efficacy in an animal model of NCL known as CLN2 (late infantile classic juvenile) and has been shown to be safe for lowering lipids in children. 28623936 2017
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 CausalMutation disease CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs. 26143525 2015
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 CausalMutation disease CLINVAR Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. 26075876 2015
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE Late-infantile NCL is caused by mutations in the lysosomal protease tripeptidyl peptidase 1 (TPP1). 25540127 2015
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE Here we report successful reprograming of patient fibroblasts into induced pluripotent stem cells (iPSCs) for the two most common NCL subtypes: classic late-infantile NCL, caused by TPP1(CLN2) mutation, and juvenile NCL, caused by CLN3 mutation. 24271013 2014
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 CausalMutation disease CLINVAR Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). 23418007 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE The two most prevalent forms of neuronal ceroid lipofuscinosis (NCL) are the juvenile form (Batten disease, CLN3) and late infantile form (Jansky-Bielschowsky disease, CLN2). 23263384 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 CausalMutation disease CLINVAR Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 CausalMutation disease CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 CausalMutation disease CLINVAR Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients. 22832778 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease CLINVAR Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE The most heterogeneous subtype of neuronal ceroid lipofuscinosis comprises the late infantile variant, which, in addition to the classic CLN2, was reported in children with CLN5, CLN6, CLN7/MFSD8, and CLN8 genes. 22964447 2012
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 CausalMutation disease CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE Although functions are defined for some of the soluble proteins that are defective in NCL (cathepsin D, PPT1, and TPP1), the primary function of the other proteins defective in NCLs (CLN3, CLN5, CLN6, CLN7, and CLN8) remain poorly defined. 20680390 2011