Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.400 Biomarker disease BEFREE CLN1, CLN2 and CLN3 affected 3.8 %, 11.5 % and 42.3 % of NCL Portuguese patients, respectively. 12796825 2003
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 GeneticVariation disease LHGDN Juvenile neuronal ceroid-lipofuscinosis is the most common type of neuronal ceroid-lipofuscinosis in the United States and Europe and is inherited as an autosomal recessive genetic disorder. 15032383 2004
Entrez Id: 1185
Gene Symbol: CLCN6
CLCN6 		0.210 Biomarker disease BEFREE CLCN6 is a candidate gene for mild forms of human NCL. 16950870 2006
Entrez Id: 1185
Gene Symbol: CLCN6
CLCN6 		0.210 Biomarker disease MGD CLCN6 is a candidate gene for mild forms of human NCL. 16950870 2006
Entrez Id: 2055
Gene Symbol: CLN8
CLN8 		0.400 GeneticVariation disease BEFREE CLN8 mutations result in Northern epilepsy and Turkish variant late infantile NCL. 17129765 2007
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 Biomarker disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL) belongs to the neuronal ceroid lipofuscinoses characterized by blindness/seizures/motor/cognitive decline and early death. 18317235 2008
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		0.700 GeneticVariation disease BEFREE Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner. 18811591 2009
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 GeneticVariation disease BEFREE CLN3 is an endosomal/lysosomal transmembrane protein mutated in classical juvenile onset neuronal ceroid lipofuscinosis, a fatal inherited neurodegenerative lysosomal storage disorder. 22261744 2012
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2 		0.400 Biomarker disease BEFREE Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits. 23393156 2013
Entrez Id: 1509
Gene Symbol: CTSD
CTSD 		0.300 Biomarker disease BEFREE CTSD is the gene encoding Cathepsin D (CTSD), a lysosomal protein hydrolase, and homozygous CTSD deficiency results in neuronal ceroid-lipofuscinosis, which is characterized by the early onset, progressive neurodegeneration. 26448324 2015
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: 1203
Gene Symbol: CLN5
CLN5 		0.400 Biomarker disease BEFREE Ceroid lipofuscinosis neuronal 5 (CLN5) is a member of a family of proteins that are linked to neuronal ceroid lipofuscinosis (NCL). 29128403 2018
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 GeneticVariation disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL) is a lysosomal storage disease caused by autosomal recessive mutations in ceroid lipofuscinosis 3 (CLN3). 29964296 2019
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
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 Biomarker disease BEFREE CLN5 deficiency causes a subtype of NCL, referred to as CLN5 disease. 30655561 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN 		0.100 GeneticVariation disease BEFREE Progranulin gene polymorphisms are linked to Alzheimer's disease (AD) and complete loss of function causes neuronal ceroid lipofuscinosis. 30696728 2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 GeneticVariation disease BEFREE Juvenile neuronal ceroid lipofuscinosis (JNCL), also known as Batten disease, is the most common form of NCLs. 30892110 2019
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.400 GeneticVariation disease BEFREE Palmitoyl-protein thioesterase 1 (PPT1) is a depalmitoylation enzyme that is mutated in cases of neuronal ceroid lipofuscinosis (NCL). 30918483 2019
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2 		0.400 GeneticVariation disease BEFREE ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis. 30956123 2019
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8 		0.400 Biomarker disease BEFREE Cln7, a major facilitator superfamily domain-containing protein, is affected in a late infantile-onset form of NCL. 31666534 2019
Entrez Id: 516
Gene Symbol: ATP5MC1
ATP5MC1 		0.030 Biomarker disease BEFREE Mitochondrial ATP synthase subunit c stored in hereditary ceroid-lipofuscinosis contains trimethyl-lysine. 7575423 1995
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.400 Biomarker disease BEFREE CLN1, the gene for infantile NCL (Santavuori-Haltia disease) encodes palmitoyl protein thioesterase (PPT). 8803767 1996
Entrez Id: 1203
Gene Symbol: CLN5
CLN5 		0.400 GeneticVariation disease BEFREE CLN5, the gene for Finnish variant late infantile NCL, has been mapped to 13q and should be identified in the near future. 8803767 1996
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		0.700 GeneticVariation disease BEFREE A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course. 19135632 2009
Entrez Id: 22901
Gene Symbol: ARSG
ARSG 		0.310 GeneticVariation disease BEFREE A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. 20679209 2010