Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.760 GeneticVariation disease BEFREE Mutations in the CLN8 gene underlie Northern epilepsy (progressive epilepsy with mental retardation [EPMR], OMIM 600143) and a subset of Turkish variant late infantile NCL, but the pathogenetic mechanisms have remained elusive. 15160397 2004
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.760 GeneticVariation disease CLINVAR
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.760 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
0.760 Biomarker disease GENOMICS_ENGLAND EPMR patients were homozygous for a missense mutation (70C-->G, R24G) that was not found in homozygosity in 433 controls.We also cloned the mouse Cln8 sequence. 10508524 1999
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.760 CausalMutation disease CLINVAR
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.760 GeneticVariation disease BEFREE CLN8 mutations result in Northern epilepsy and Turkish variant late infantile NCL. 17129765 2007
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.760 GeneticVariation disease UNIPROT EPMR patients were homozygous for a missense mutation (70C-->G, R24G) that was not found in homozygosity in 433 controls.We also cloned the mouse Cln8 sequence. 10508524 1999
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.760 GeneticVariation disease UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.760 GeneticVariation disease BEFREE In the remaining families, four CLN8 gene mutations were identified indicating that in a subset of patients with Turkish vLINCL, the disorder is allelic to Northern epilepsy. 15024724 2004
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.760 GermlineCausalMutation disease ORPHANET Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.760 Biomarker disease GENOMICS_ENGLAND Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean. 16570191 2006
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.760 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.760 Biomarker disease BEFREE We recently performed whole-exome sequencing in two families with affected siblings and then carried out a follow-up study and identified ceroid-lipofuscinosis neuronal 8 (epilepsy, progressive with mental retardation) (CLN8) as a potential genetic risk factor for ASD. 26657971 2015
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.760 Biomarker disease CTD_human
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.760 GeneticVariation disease BEFREE A missense mutation in CLN8 causes progressive epilepsy with mental retardation (EPMR) or Northern epilepsy, which has so far been reported only from Finland and is now classified as an NCL. 11589000 2001
Entrez Id: 4691
Gene Symbol: NCL
NCL
0.020 Biomarker disease BEFREE Two types of NCL have so-far been found almost exclusively in Finland: Finnish variant late infantile NCL, vLINCL (CLN5), and the Northern epilepsy syndrome or Progressive epilepsy with mental retardation, EPMR (CLN8). 11332769 2001
Entrez Id: 4691
Gene Symbol: NCL
NCL
0.020 Biomarker disease BEFREE A missense mutation in CLN8 causes progressive epilepsy with mental retardation (EPMR) or Northern epilepsy, which has so far been reported only from Finland and is now classified as an NCL. 11589000 2001
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.010 Biomarker disease BEFREE Two types of NCL have so-far been found almost exclusively in Finland: Finnish variant late infantile NCL, vLINCL (CLN5), and the Northern epilepsy syndrome or Progressive epilepsy with mental retardation, EPMR (CLN8). 11332769 2001
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
0.010 Biomarker disease BEFREE Linkage analysis using DNA markers linked to the EPM1 gene for progressive myoclonus epilepsy of Unverricht-Lundborg type showed that the Northern epilepsy syndrome is not allelic to EPM1. 8014963 1994
Entrez Id: 9228
Gene Symbol: DLGAP2
DLGAP2
0.010 Biomarker disease BEFREE Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation. 10854099 2000