Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.940 Biomarker disease MGD Retinal degeneration in motor neuron degeneration (mnd) mutant mice. 8282051 1993
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.940 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
0.940 Biomarker disease CTD_human
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 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 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
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.010 Biomarker disease BEFREE The observed pathology of one proband resembled condensed fingerprints, previously described in late infantile CLN7 and CLN8 diseases, and pathology from the second proband was thought to be absent even after repeated skin biopsy, but observed after review. 23735787 2013
Entrez Id: 5524
Gene Symbol: PTPA
PTPA
0.010 AlteredExpression disease BEFREE We showed that the phosphorylation levels of several substrates of PP2A, namely Akt, S6 kinase, and GSK3β, were decreased in CLN8 disease patient fibroblasts. 30453012 2019
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.940 CausalMutation disease CLINVAR
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