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: 80331
Gene Symbol: DNAJC5
DNAJC5
0.180 Biomarker disease BEFREE 14 different genes have been linked to NCLs (CLN1-CLN14), but the functions of the proteins encoded by the majority of these genes have not been fully elucidated. 28442266 2017
Entrez Id: 4691
Gene Symbol: NCL
NCL
0.090 Biomarker disease BEFREE 14 different genes have been linked to NCLs (CLN1-CLN14), but the functions of the proteins encoded by the majority of these genes have not been fully elucidated. 28442266 2017
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 Biomarker disease BEFREE Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2). 12125808 2002
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2). 12125808 2002
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
0.700 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinosis type 6 and its sheep model (OCL6) are lysosomal storage disorders caused by mutations in the CLN6 gene product of unknown function. 12946273 2003
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinoses (NCL) comprise the most common group of childhood encephalopathies caused by mutations in eight genetic loci, CLN1-CLN8. 15459177 2004
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
0.400 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinoses (NCL) comprise the most common group of childhood encephalopathies caused by mutations in eight genetic loci, CLN1-CLN8. 15459177 2004
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
0.400 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population. 21447811 2011
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810 2013
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinoses (NCL) are a group of inherited neurodegenerative disorders with lysosomal pathology (CLN1-14). 26659577 2016
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
0.400 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas. 27211611 2016
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.020 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes respectively. 30541466 2018
Entrez Id: 388743
Gene Symbol: CAPN8
CAPN8
0.010 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes respectively. 30541466 2018
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes respectively. 30541466 2018
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes respectively. 30541466 2018
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Neuronal ceroid lipofuscinosis (NCL) type 1 (CLN1) is a neurodegenerative storage disorder caused by mutations in the gene encoding the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1). 31578378 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.700 Biomarker disease BEFREE Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders. 11589013 2001