Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 AlteredExpression disease BEFREE The aberrant expression of ceroid-lipofuscinosis 3 (CLN3) has been reported in a variety of human malignancies. 30851897 2019
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: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL) is a lysosomal storage disease caused by autosomal recessive mutations in ceroid lipofuscinosis 3 (CLN3). 29964296 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease BEFREE Mutations in CLN3 cause a juvenile form of neuronal ceroid lipofuscinosis (NCL). 30771446 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: 1201
Gene Symbol: CLN3
CLN3
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: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE Among them, a 12.4-kb deletion involving the CLN6 gene was the top candidate because its homozygous abnormalities cause neuronal ceroid lipofuscinosis. 30760880 2019
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE Mutation of CLN6 has emerged as the most important cause of recessive Kufs disease but, remarkably, is also responsible for variant late infantile ceroid lipofuscinosis. 30561534 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL), also known as Batten disease, is the most common form of NCLs. 30892110 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: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE Ceroid lipofuscinosis (CLN) gene mutations are the cause, but NCL cases arising from CLN6 mutations have not been described in China to date. 30285654 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: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease BEFREE Mutations in CLN3 cause a juvenile form of neuronal ceroid lipofuscinosis (NCL), commonly known as Batten disease. 30251676 2018
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease BEFREE In a whole-exome sequencing study of multiplex Alzheimer's disease (AD) families, we investigated three neuronal ceroid lipofuscinosis genes that have been linked to retromer, an intracellular trafficking pathway associated with AD: ceroid lipofuscinosis 3 (CLN3), ceroid lipofuscinosis 5 (CLN5), and cathepsin D (CTSD). 30037983 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: 1201
Gene Symbol: CLN3
CLN3
0.700 Biomarker disease BEFREE To identify candidate biomarkers, we analyzed autopsy brain and matching CSF samples from controls and three genetically distinct NCLs due to deficiencies in palmitoyl protein thioesterase 1 (CLN1 disease), tripeptidyl peptidase 1 (CLN2 disease), and CLN3 protein (CLN3 disease). 28792770 2017
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 Biomarker disease BEFREE To identify molecular modulators of synaptic stability and degeneration, we have used the Cln3 <sup>-/-</sup> mouse model of a juvenile form of NCL. 28963550 2017
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE Here, we aimed to present detailed temporal evolution of clinical and electrophysiological features of two siblings with adult-onset NCL and homozygous mutation in the CLN6 gene. 28587997 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: 1201
Gene Symbol: CLN3
CLN3
0.700 Biomarker disease MGD Antigen presenting cell abnormalities in the Cln3(-/-) mouse model of juvenile neuronal ceroid lipofuscinosis. 27101989 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