Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.940 GeneticVariation disease CLINVAR Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion. 22220808 2012
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.940 GeneticVariation disease CLINVAR Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease, EPMR (progressive epilepsy with mental retardation), and the more severe CLN8 disease, late infantile variant. 21990111 2012
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.940 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: 2055
Gene Symbol: CLN8
CLN8 		0.940 GeneticVariation disease CLINVAR CLN8 disease caused by large genomic deletions. 28116333 2017
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.940 GeneticVariation 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 		0.940 GeneticVariation disease UNIPROT A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. 19431184 2009
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.940 GeneticVariation disease UNIPROT Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease, EPMR (progressive epilepsy with mental retardation), and the more severe CLN8 disease, late infantile variant. 21990111 2012
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.940 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 		0.940 CausalMutation disease CLINVAR
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.940 Biomarker disease GENOMICS_ENGLAND Our findings expand the number of CLN8 variants and corroborate the notion that CLN8 patients are not confined to the Finnish population. 16570191 2006
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		0.010 Biomarker disease BEFREE All drugs decreased ceramide in CLN1-/CLN2-/CLN3-/CLN6-/CLN8 patient-derived lymphoblasts. 30250865 2018
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