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 GermlineCausalMutation disease ORPHANET 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 GeneticVariation disease UNIPROT Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan. 26443629 2016
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.940 GeneticVariation disease UNIPROT 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 Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763 2009
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.940 GeneticVariation disease UNIPROT 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: 2055
Gene Symbol: CLN8
CLN8 		0.940 GeneticVariation disease UNIPROT 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 		0.940 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 GENOMICS_ENGLAND
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.940 Biomarker disease GENOMICS_ENGLAND The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. 10508524 1999
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.940 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 		0.940 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