Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 GeneticVariation disease CLINVAR
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 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 Retinal degeneration in motor neuron degeneration (mnd) mutant mice. 8282051 1993
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 GeneticVariation disease BEFREE It displays 82% nucleotide identity with CLN8, conservation of the codon harbouring the human mutation and is localized to the same region as the motor neuron degeneration mouse, mnd, a naturally occurring mouse NCL (ref.4). 10508524 1999
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 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 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 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 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 Biomarker disease BEFREE Neuropathological findings have shown that EPMR is a new member (CLN8) of the neuronal ceroid lipofuscinosis (NCL) group of neurodegenerative disorders.The CLN8 gene was identified recently. 11073227 2000
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 GeneticVariation disease BEFREE These eight NCL forms resulted from 100 different mutations on genes CLN1to CLN8 causing different phenotypes (http://www.ucl.ac.uk/ncl). 11548735 2001
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 GeneticVariation disease BEFREE In five of the eight NCL variants distinguished at present, genes associated with the disease process have been isolated and characterized (CLN1, CLN2, CLN3, CLN5, CLN8). 11332776 2001
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 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 Neuronal ceroid lipofuscinoses (NCL) comprise the most common group of childhood encephalopathies caused by mutations in eight genetic loci, CLN1-CLN8. 15459177 2004
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 Biomarker disease BEFREE Progressive epilepsy with mental retardation, EPMR, belongs to a group of inherited neurodegenerative disorders, the neuronal ceroid lipofuscinoses. 16086686 2005
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 GeneticVariation disease BEFREE We report the first known case in Israel of a patient with an early childhood onset of ceroid-lipofuscinosis who is homozygous to a mutation of the CLN8 gene. 17560505 2007
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 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 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