Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 Biomarker disease MGD Altered gene expression in the eye of a mouse model for batten disease. 15326100 2004
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 Biomarker disease CTD_human Purkinje cells not only control motor function, an early symptomatic change in the CLN6 mice, but also display prominent neuropathological changes in mouse models and patients with different forms of neuronal ceroid lipofuscinoses. 23789114 2013
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 A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course. 19135632 2009
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner. 18811591 2009
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. 16621647 2006
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease CLINVAR [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation]. 12698559 2003
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: 1200
Gene Symbol: TPP1
TPP1
0.700 CausalMutation disease CLINVAR Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency. 18283468 2008
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease CLINVAR Nitric oxide signaling is disrupted in the yeast model for Batten disease. 17475770 2007
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE Conversely, a specimen previously classified as juvenile NCL lacks pepinase activity and is associated with mutations in CLN2. 10428067 1999
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE A survey of fibroblasts and lymphoblasts demonstrated that lack of activity was associated with LINCL arising from mutations in the CLN2 gene but not other neuronal ceroid lipofuscinoses (NCLs), including the CLN6 variant LINCL, classical infantile NCL, classical juvenile NCL, and adult NCL (Kufs' disease). 10428067 1999
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 Batten disease (juvenile-onset neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive condition characterized by accumulation of lipopigments (lipofuscin and ceroid) in neurons and other cell types. 9311735 1997
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 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 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: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease MGD Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis. 18343701 2008
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: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease BEFREE The purpose of this study was to compare the in vivo 1.5-T 1H magnetic resonance (MR) and ex vivo 14.3-T high-resolution (HR) magic angle spinning (MAS) 1H MR brain spectra of patients with infantile (CLN1) and juvenile (CLN3) types of NCL, to obtain detailed information about the alterations in the neuronal metabolite profiles in these diseases and to test the suitability of the ex vivo HR MAS (1)H MRS technique in analysis of autopsy brain tissue. 15352223 2004
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 AlteredExpression disease BEFREE Herein, we report that three NCL disease forms with similar tissue pathology are connected at the molecular level: CLN5 polypeptides directly interact with the CLN2 and CLN3 proteins based on coimmunoprecipitation and in vitro binding assays. 12134079 2002
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE Thus, CLN2 represents a fourth distinct genetic locus involved in the pathogenesis of NCL. 7668361 1995
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 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
0.700 Biomarker disease BEFREE Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2). 12125808 2002
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. 11791207 2002