Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 CausalMutation disease CLINVAR
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 Biomarker disease CTD_human
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 GeneticVariation disease CLINVAR
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.400 CausalMutation disease CLINVAR
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.400 GeneticVariation disease CLINVAR
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
0.350 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 9374
Gene Symbol: PPT2
PPT2
0.220 Biomarker disease MGD
Entrez Id: 26224
Gene Symbol: FBXL3
FBXL3
0.100 GeneticVariation disease CLINVAR
Entrez Id: 768206
Gene Symbol: PRCD
PRCD
0.010 GeneticVariation disease BEFREE The ERGs of these affected setters differed from those that have been recorded from humans with neuromal ceroid lipofuscinosis (Batten's disease), humans with hereditary retinitis pigmentosa, Irish setters with rod-cone dysplasia, and miniature French poodles with progressive rod-cone degeneration. 7350138 1980
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 Biomarker disease MGD Autosomal dominance in a late-onset motor neuron disease in the mouse. 3783318 1986
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE The results of linkage analyses in Finnish variant CLN2 families using the markers linked to CLN1 revealed an exclusion; i.e., this form of CLN is caused by a locus different from that of CLN1. 2071142 1991
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 Biomarker disease MGD Mapping of the motor neuron degeneration (Mnd) gene, a mouse model of amyotrophic lateral sclerosis (ALS). 1639406 1992
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 Biomarker disease BEFREE Locus heterogeneity between classical late-infantile CLN (CLN2) and both CLN1 and CLN3 has been demonstrated. 8412021 1993
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE Linkage analysis of 25 families segregating for late-infantile NCL has excluded these regions as the site of this disease locus (CLN2). 8213822 1993
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 Biomarker disease BEFREE Analysis of D16S285 in pedigrees with late-infantile NCL virtually excluded the CLN3 region, suggesting that these two forms of NCL are genetically distinct. 8434611 1993
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE Locus heterogeneity between classical late-infantile CLN (CLN2) and both CLN1 and CLN3 has been demonstrated. 8412021 1993
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 Biomarker disease MGD Retinal degeneration in motor neuron degeneration (mnd) mutant mice. 8282051 1993
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 Biomarker disease MGD Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease). 7683855 1993
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 Biomarker disease BEFREE Locus heterogeneity between classical late-infantile CLN (CLN2) and both CLN1 and CLN3 has been demonstrated. 8412021 1993
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 Biomarker disease BEFREE Considering that inclusions of lipofuscin-like substances are observed in retinal pigmentary cells of patients with Stargardt's disease on the one hand, and that the early symptoms of neuronal ceroid lipofuscinosis (CLN3) are suggestive of Stargardt's disease on the other hand (age of loss of visual acuity, appearance of the fundus), we decided to test allelism of Stargardt's disease with the infantile (CLN1) and juvenile forms of neuronal ceroid lipofuscinosis (CLN3), which map to chromosomes 1p32 and 16p12-p11 respectively. 8014971 1994
Entrez Id: 516
Gene Symbol: ATP5MC1
ATP5MC1
0.030 PosttranslationalModification disease BEFREE Lysine methylation of mitochondrial ATP synthase subunit c stored in tissues of dogs with hereditary ceroid lipofuscinosis. 8144584 1994
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE Thus, CLN2 represents a fourth distinct genetic locus involved in the pathogenesis of NCL. 7668361 1995
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 Biomarker disease BEFREE The loci for the juvenile (CLN3) and infantile (CLN1) neuronal ceroid lipofuscinosis (NCL) types have been mapped by genetic linkage analysis to chromosome arms 16p and 1p, respectively. 7668360 1995
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 GeneticVariation disease BEFREE In this family, the patient and one of the healthy siblings have identical haplotypes, excluding linkage of early juvenile NCL to the CLN3 locus on 16p12.1-11.2. 7668359 1995
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
0.700 Biomarker disease BEFREE Batten disease (juvenile-onset neuronal ceroid lipofuscinosis; JNCL) is an autosomal recessive neurodegenerative disorder, characterized by the cytosomal accumulation of autofluorescent proteolipopigments in neurons and other cell types. 7668357 1995