Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 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 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: 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: 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
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE We determined that the mutations 223A --> G and 451C --> T in CLN1, T523-1G --> C, and 636 C --> T in CLN2, and deletion of a 1.02-kb genomic fragment in CLN3 are the five common mutations for NCL. 11142754 2000
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 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: 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: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease BEFREE The juvenile form of the disease (onset age 4-8 years with visual loss) is usually caused by mutations in the CLN3 gene, but some cases have been shown to be due to specific mutations in the CLN1 or CLN2 genes, which are usually associated with NCL with onset in infancy or late infancy, respectively. 16720047 2006
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease BEFREE Material includes 159 probands with NCL (37 CLNI, 72 classical CLN2, 10 variant LINCL, and 40 CLN3) collected at the New York State Institute for Basic Research in Developmental Disabilities (IBR) as well as a comprehensive review of the literature. 11332767 2001
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease BEFREE Although the CLN3 gene associated with the disease process in subjects with the juvenile form of neuronal ceroid lipofuscinosis was discovered in 1995, our knowledge of the physiological function of its gene product, CLN3 protein, is still incomplete. 11589014 2001
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease CLINVAR The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. 19132115 2009
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease LHGDN Unlike NCLs caused by mutations in CLN1, CLN3, CLN5, and CLN8, there is no major founder mutation in CLN6. 12815591 2003
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease BEFREE CLN1, CLN2 and CLN3 affected 3.8 %, 11.5 % and 42.3 % of NCL Portuguese patients, respectively. 12796825 2003
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE Mouse gene knockout models for the CLN2 and CLN3 forms of ceroid lipofuscinosis. 11588979 2001