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 BEFREE Although functions are defined for some of the soluble proteins that are defective in NCL (cathepsin D, PPT1, and TPP1), the primary function of the other proteins defective in NCLs (CLN3, CLN5, CLN6, CLN7, and CLN8) remain poorly defined. 20680390 2011
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 GeneticVariation disease BEFREE Loss of function mutations in CLN8 causes neuronal ceroid-lipofuscinosis, but our results indicate that its increased expression may protect against severe GD1. 22388998 2012
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 GeneticVariation disease BEFREE Patients with CLN8 mutations usually present as the late-infantile-onset neuronal ceroid lipofuscinosis phenotype and are mostly Turkish and Italian, but three patients from Israel, Pakistan, and Germany were also reported. 22964447 2012
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 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 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 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 Biomarker disease BEFREE Our findings expand the variant diversity of CLN8 and demonstrate the tremendous diagnosis value of targeted next-generation sequencing for pediatric NCLs. 29422019 2018
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 GeneticVariation disease BEFREE This is the fourth variant identified in CLN8 that causes NCL in dogs. 29446145 2018
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