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: 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: 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: 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: 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: 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: 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: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease BEFREE Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway. 24271013 2014
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease CLINVAR Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway. 24271013 2014
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease BEFREE Batten disease (BD)--also known as juvenile neuronal ceroid lipofuscinoses-is an inherited neurodegenerative disorder caused by CLN3 gene mutations. 23524239 2013
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 CausalMutation disease CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
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: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease BEFREE Among the fourteen different forms of NCL described to date, CLN1 and CLN10 are marked by granular lipopigments, CLN2 by curvilinear profiles (CVPs), CLN3 by fingerprint profiles (FPPs), and other forms by a combination of these features. 23200925 2013
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease BEFREE CLN3 is an endosomal/lysosomal transmembrane protein mutated in classical juvenile onset neuronal ceroid lipofuscinosis, a fatal inherited neurodegenerative lysosomal storage disorder. 22261744 2012
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
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: 1201
Gene Symbol: CLN3
CLN3
0.700 Biomarker disease BEFREE Intriguingly, murine cerebellar cells derived from a juvenile NCL model (CLN3) showed enrichment of endogenous KCTD7. 22748208 2012
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 Biomarker disease BEFREE A sequence analysis indicated that the CLN3 gene was not likely to be responsible for this case of feline NCL because no deleterious mutation was detected. 22627044 2012
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
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
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 CausalMutation disease CLINVAR Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. 21499717 2011
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 CausalMutation disease CLINVAR Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). 20187884 2010
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 Biomarker disease MGD Osmoregulation of ceroid neuronal lipofuscinosis type 3 in the renal medulla. 20219947 2010
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease BEFREE A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course. 19135632 2009