Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE We have found that in the most common juvenile form of NCL (CLN3 disease or JNCL) this glial response is less pronounced in both mouse models and human autopsy material, with the morphological transformation of both astrocytes and microglia severely attenuated or delayed. 29041969 2017
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease) caused by mutations in the <i>CLN3</i> gene is the most prevalent inherited neurodegenerative disease in childhood resulting in widespread central nervous system dysfunction and premature death. 29135436 2017
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease MGD Our results show that CLN3 deficiency alters APCs, which can be a major contributor to the autoimmune response in JNCL. 27101989 2016
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Remote Assessment of Cognitive Function in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease): A Pilot Study of Feasibility and Reliability. 26336202 2016
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL) is a fatal lysosomal storage disease caused by CLN3 mutations. 27629717 2016
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE In this study, independent lines of induced pluripotent stem cells (iPSCs) were generated from two patients with molecularly confirmed mutations in CLN3, the gene mutated in JNCL. 27400765 2016
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE The eyes and vision of nine heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with classical CLN3 mutations were examined using the following methods: clinical examination, visual acuity, ophthalmoscopy, optical coherence tomography (macular thickness and peripapillary retinal nerve fibre layer measurement [RNFL]), fundus autofluorescence measurement, infrared imaging, and full-field and multifocal electroretinogram. 25338278 2015
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal-ceroid-lipofuscinosis (JNCL) is a lysosomal storage disease caused by mutations in CLN3. 26360874 2015
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 CausalMutation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease). 24547931 2015
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE To gain an improved understanding of the pathways regulating defective autophagy specifically in juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease), a neurodegenerative disease of childhood, we developed and piloted a GFP-microtubule-associated protein 1 light chain 3 (GFP-LC3) screening assay to identify, in an unbiased fashion, genotype-sensitive small molecule autophagy modifiers, employing a JNCL neuronal cell model bearing the most common disease mutation in CLN3. 25878248 2015
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Partial correction of the CNS lysosomal storage defect in a mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal CNS administration of an adeno-associated virus serotype rh.10 vector expressing the human CLN3 gene. 24372003 2014
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE The Batten disease gene CLN3 confers resistance to endoplasmic reticulum stress induced by tunicamycin. 24699413 2014
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE Juvenile Batten disease (juvenile neuronal ceroid lipofuscinosis, JNCL) is a devastating neurodegenerative disease caused by mutations in CLN3, a protein of undefined function. 24792215 2014
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 Biomarker disease BEFREE Although CLN3-related oxidative and mitochondrial stresses have been studied in BD, the pathologic mechanism of the disease is not clearly understood. 23524239 2013
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 CausalMutation disease CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL) is characterized by severe visual impairment with onset around age 4-8 years, and a developmental course that includes blindness, epilepsy, speech problems, dementia, motor coordination problems, and emotional reactions. 23470553 2013
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease BEFREE Here we describe a patient with juvenile neuronal ceroid lipofuscinosis who has a novel c.1135_1138delCTGT mutation in CLN3. 23877479 2013
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL) is a lysosomal storage disease caused by an autosomal recessive mutation in CLN3. 23919525 2013
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 CausalMutation disease CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165 2013
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 GeneticVariation disease CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
1.000 Biomarker disease BEFREE Since the CLN3 gene is suggested to be involved in the cell cycle in a yeast model, we investigated the cell cycle profile and its regulatory factors in lymphoblast cells from Batten disease patients. 23458879 2013