Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Semi-structured interviews were conducted with 16 parents of a child suffering from the neurodegenerative disease CLN3. 28438074 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Juvenile neuronal ceroid lipofuscinosis (CLN3 disease) is the most common neurodegenerative disorder in childhood with survival until young adult age. 30884409 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group 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
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE CLN3 mutations cause the fatal neurodegenerative disorder, CLN3 Batten disease. 31628420 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE The aim of the present study is to substantiate the assertion that paroxysmal non-epileptic attacks resembling PSH also occur in patients with Juvenile Neuronal Ceroid Lipofuscinosis (JNCL, Batten disease), which is the most common neurodegenerative disease in children. 30072301 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Juvenile neuronal ceroid lipofuscinosis (CLN3 disease) is a hereditary progressive neurodegenerative disease well documented among Caucasians, but such clinical data and genetic characterization is lacking among Asian populations. 30053402 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Mutations in CLN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration, but have recently also been identified in patients with nonsyndromic inherited retinal degenerations. 28542676 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group 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
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL) is a childhood neurodegenerative disease with early-onset, severe central vision loss. 27400765 2016
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group 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
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group 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
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Defects of the CLN3 gene on chromosome 16p12.1 lead to the juvenile form of neuronal ceroid-lipofuscinosis (JNCL, Batten Disease), the most common recessive inherited neurodegenerative disorder in children. 20933060 2011
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most common group of neurodegenerative disorders of childhood. 21359416 2011
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease, is a neurodegenerative disease resulting from a mutation in CLN3, which presents clinically with visual deterioration, seizures, motor impairments, cognitive decline, hallucinations, loss of circadian rhythm, and premature death in the late-twenties to early-thirties. 19230832 2009
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL), also known as Batten disease, is a fatal inherited neurodegenerative disorder. 19243453 2009
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Mutations in the gene CLN3 are responsible for the neurodegenerative disorder juvenile neuronal ceroid lipofuscinosis or Batten disease. 19028667 2009
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL, Batten disease) is the most common progressive neurodegenerative disorder of childhood. 18621045 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Juvenile neuronal ceroid-lipofuscinosis (JNCL, Batten disease, Spielmeyer-Vogt-Sjogren disease, CLN3) is the most common inherited, autosomal recessive, neurodegenerative disorder in man. 17896996 2007
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Juvenile neuronal ceroid lipofuscinosis (Batten disease) is a neurodegenerative disorder caused by defective function of the lysosomal membrane glycoprotein CLN3. 17868323 2007
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Juvenile neuronal ceroid-lipofuscinosis (JNCL) or Batten/Spielmeyer-Vogt-Sjogren disease (OMIM #204200) is one of a group of nine clinically related inherited neurodegenerative disorders (CLN1-9). 16515873 2006
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Mutations in the CLN3 gene, which encodes a lysosomal membrane protein, are responsible for the neurodegenerative disorder juvenile Batten disease. 16251196 2005
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), or Batten disease, is a childhood neurodegenerative disease that is characterized clinically by progressive visual loss, seizures, dementia, and motor incoordination. 16087292 2005
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Batten disease is a severe autosomal recessive neurodegenerative disease which results from mutations in CLN3. 15240430 2004
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten Disease) is the most common progressive neurodegenerative disorder of childhood. 12559844 2003
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Mutations in the CLN3 gene are responsible for the neurodegenerative disorder Batten disease; however, the molecular basis of this disease remains unknown. 12023984 2002