Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 Biomarker disease MGD Retinal degeneration in motor neuron degeneration (mnd) mutant mice. 8282051 1993
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 Biomarker disease MGD Autosomal dominance in a late-onset motor neuron disease in the mouse. 3783318 1986
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 Biomarker disease MGD Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease). 7683855 1993
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 Biomarker disease MGD Mapping of the motor neuron degeneration (Mnd) gene, a mouse model of amyotrophic lateral sclerosis (ALS). 1639406 1992
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 Biomarker disease MGD An early-onset congenic strain of the motor neuron degeneration (mnd) mouse. 10191135 1999
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 CausalMutation disease CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165 2013
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 CausalMutation disease CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637 2014
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 CausalMutation disease CLINVAR The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. 10861296 2000
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 CausalMutation disease CLINVAR Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. 19807737 2010
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 GeneticVariation disease CLINVAR
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 CausalMutation disease CLINVAR Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. 15024724 2004
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 CausalMutation disease CLINVAR Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. 15160397 2004
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 GeneticVariation disease BEFREE The NCLs include eight forms that result from genetic deficiency on genes CLN(1) to CLN(8), respectively: four classic forms with clinical onset at varying ages-infantile (INCL), late-infantile (LINCL), juvenile (JNCL), and adult (ANCL)-and four variants of late-infantile onset-the Finnish variant LINCL (fLINCL), Portuguese variant LINCL (pLINCL), Turkish variant LINCL (tLINCL), and progressive epilepsy with mental retardation (EPMR). 11001811 2000
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 GeneticVariation disease BEFREE The late-infantile-onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among the autosomal recessive neuronal ceroid lipofuscinoses (NCLs), with causative mutations found in CLN1, CLN2, CLN5, CLN6, CLN7 (MFSD8), and CLN8 genes. 19431184 2009
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 GeneticVariation disease BEFREE CLN8 mutations result in Northern epilepsy and Turkish variant late infantile NCL. 17129765 2007
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 Biomarker disease BEFREE A homozygous mutation in the orthologous mouse gene (Cln8) underlies the phenotype of a naturally occurring NCL model, the motor neuron degeneration mouse (mnd). 10861296 2000
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 GeneticVariation disease BEFREE These findings indicate that the CLN8 T-to-C transition is the likely cause of English Setter NCL. 15629147 2005
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 GeneticVariation disease BEFREE CLN8 mutation was first identified in Finnish patients, and the condition was named Northern Epilepsy (NE); however, the severe phenotype of the CLN8 gene was subsequently found outside Finland and named 'variant late-infantile' NCL. 27844444 2017
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 GeneticVariation disease BEFREE Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. 15160397 2004
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 GeneticVariation disease BEFREE We report a 6-year-old Japanese boy with NCL with a novel missense mutation in CLN8. 26443629 2016
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 GeneticVariation disease BEFREE Our data indicate that patients with clinical signs of late infantile NCL and characteristic ultrastructural inclusions should also be screened for CLN8 mutations independent of their ethnic origin. 19807737 2010
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 Biomarker disease BEFREE The murine orthologue of CLN8 causes motor neuron degeneration (mnd), a mouse model of NCL. 11073223 2000
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 GeneticVariation disease BEFREE Here we present two confirmed cases of NCL in Alpenländische Dachsbracke dogs from different litters of the same sire with a different dam harboring the same underlying novel mutation in the CLN8 gene. 28024876 2017
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 GeneticVariation disease BEFREE For example, mutations in CLN5, CLN6, MFSD8, or CLN8 can underlie the clinically similar late infantile variant NCL disease. 21990111 2012
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 Biomarker disease BEFREE CLN8 deficiency causes a subtype of NCL, referred to as CLN8 disease. 30453012 2019