Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 PosttranslationalModification disease BEFREE Age-dependent alterations in neuronal activity in the hippocampus and visual cortex in a mouse model of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3). 28042098 2017
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE Genetic linkage studies were undertaken to determine the chromosomal location of the Batten disease mutation (CLN3). 2249854 1990
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease GENOMICS_ENGLAND Thus, a single point mutation at residue 295 of the CLN3 protein in protracted JNCL may underlie the phenotype in this form, which differs from that in classic JNCL. 9450775 1998
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 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: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease CLINVAR Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis. 9932957 1999
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE We sought to test a novel, hybrid, single- and multi-site clinical trial design in the context of a trial for Juvenile Neuronal Ceroid Lipofuscinosis (CLN3 disease), a very rare pediatric neurodegenerative disorder. 31184505 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL; Batten disease) is a rare, inherited, fatal lysosomal storage childhood disorder. 23628560 2013
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 AlteredExpression disease BEFREE We contend that the truncated CLN3 protein is unlikely to be expressed in JNCL patients since cellular quality control mechanisms at the RNA and protein levels are likely to degrade the mutant transcript and polypeptides. 18678598 2008
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease MGD There are a number of clinically and genetically distinct forms of ceroid-lipofuscinosis, the most common of which is the juvenile type, also known as Batten disease and CLN3. 10440905 1999
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE Neither mutant CLN3 protein nor GalCer were found at the plasma membrane in JNCL fibroblasts. 15240864 2004
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation 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
1.000 Biomarker disease MGD This model provides us with the unique ability to correlate expression with pathology and behavior, thus facilitating the elucidation of CLN3 function and the pathogenesis of Batten disease. 17855597 2007
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Potential interaction of CLN3 with subunit c of mitochondrial ATP synthase, the major component of the storage material that accumulates in Batten disease patients, was also tested. 11589015 2001
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GermlineCausalMutation disease ORPHANET 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
1.000 GeneticVariation disease BEFREE Mutations in the CLN3 gene lead to juvenile neuronal ceroid lipofuscinosis, a pediatric neurodegenerative disorder characterized by visual loss, epilepsy and psychomotor deterioration. 21863212 2011
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE In studying a mouse model for Batten disease, we report the presence of an autoantibody to glutamic acid decarboxylase (GAD65) in cln3-knockout mice serum that associates with brain tissue but is not present in sera or brain of normal mice. 12023984 2002
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE A model of JBD expressing the predominant human mutation (Cln3 <sup>∆ex7/8</sup> ) has been explored. 28812237 2017
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Our findings are evidence that the Cln3-deficient mouse provides a valuable model for studying Batten disease. 10527801 1999
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE A 1.02-kb genomic deletion in the Batten disease gene CLN3 has been determined to be a common mutation. 9490299 1998
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker 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
1.000 Biomarker disease MGD Our findings are evidence that the Cln3-deficient mouse provides a valuable model for studying Batten disease. 10527801 1999
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE In juvenile neuronal ceroid-lipofuscinosis (JNCL), sleep disorders are common. 10913725 2000
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker 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
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the <i>CLN3</i> gene. 29470438 2018