Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 177
Gene Symbol: AGER
AGER
0.010 Biomarker disease LHGDN RAGE signaling contributes to neuroinflammation in infantile neuronal ceroid lipofuscinosis. 18948101 2008
Entrez Id: 351
Gene Symbol: APP
APP
0.010 GeneticVariation disease BEFREE The strongest signal was observed at 16p12.1 (25 cM, 33 Mb; heterogeneity logarithm of odds = 5.3), ∼3 Mb upstream of the ceroid lipofuscinosis 3 (<i>CLN3</i>) gene associated with juvenile neuronal ceroid lipofuscinosis (JNCL), which functions in retromer trafficking and has been reported to alter intracellular processing of the amyloid precursor protein. 30406174 2018
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
Entrez Id: 22901
Gene Symbol: ARSG
ARSG
0.310 Biomarker disease GENOMICS_ENGLAND Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III). 25452429 2015
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
0.400 Biomarker disease BEFREE Loss of function mutations in the P<sub>5</sub>-ATPase ATP13A2 are associated with Kufor-Rakeb Syndrome and Neuronal Ceroid Lipofuscinosis. 28595912 2018
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
0.400 GeneticVariation disease BEFREE We also discuss another ATP13A2 mutation that is associated with the family of neurodegenerative disorders called neuronal ceroid lipofuscinoses (NCLs), and we propose a single pathway whereby ATP13A2 mutations may contribute to NCLs and Parkinsonism. 25197640 2014
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
0.400 Biomarker disease BEFREE To determine if loss of one functional Atp13a2 allele can serve as a risk factor for disease, we have now assessed heterozygous Atp13a2 knockout mice for key features of NCL. 29859891 2018
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
0.400 GeneticVariation disease BEFREE The responsible gene ATP13A2 was also associated with hereditary spastic paraplegia, uncomplicated early - or late-onset parkinsonism and a form of neuronal ceroid lipofuscinosis. 31588715 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: 23400
Gene Symbol: ATP13A2
ATP13A2
0.400 GeneticVariation disease BEFREE Loss of function mutations in the gene ATP13A2 are associated with Kufor-Rakeb Syndrome and Neuronal Ceroid Lipofuscinosis, the former designated as an inherited form of Parkinson's disease (PD). 29407413 2018
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
0.400 GeneticVariation disease BEFREE To see if ATP13A2 mutations could be responsible for some cases of human adult-onset NCL (Kufs disease), we resequenced ATP13A2 from 28 Kufs disease patients. 21362476 2011
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
0.400 Biomarker disease CTD_human A mutation analysis for 14 positional candidate genes in two NCL-cases and one control revealed a strongly associated single nucleotide polymorphism (SNP) in the MAPK PM20/PM21 gene and a perfectly with NCL associated single base pair deletion (c.1620delG) within exon 16 of the ATP13A2 gene. 22022275 2011
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
0.400 GeneticVariation disease BEFREE We present a family with typical NCL pathology in which we performed exome sequencing and identified a single homozygous mutation in ATP13A2 that fully segregates with disease within the family. 22388936 2012
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
0.400 Biomarker disease CTD_human Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants. 22847264 2012
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
0.400 GeneticVariation disease BEFREE However, the genetic spectrum of ATP13A2-associated disorders was expanded in the last years, because it has been found to underlay variants of neuronal ceroid-lipofuscinoses (NCLs) and hereditary spastic paraplegia. 31132336 2019
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: 23400
Gene Symbol: ATP13A2
ATP13A2
0.400 GeneticVariation disease BEFREE Until now, fourteen mutations in ATP13A2 have been associated with KRS, while other mutations have been reported in association with neuronal ceroid lipofuscinosis (NCL) and early-onset PD. 26965689 2017
Entrez Id: 516
Gene Symbol: ATP5MC1
ATP5MC1
0.030 Biomarker disease BEFREE The neuronal ceroid-lipofuscinosis (NCL) are a heterogeneous group of neurodegenerative diseases characterized by the lysosomal accumulation of ceroid and lipofuscin with mitochondrial ATP synthase subunit C in various tissues. 23180398 2013
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: 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: 800
Gene Symbol: CALD1
CALD1
0.010 AlteredExpression disease BEFREE Our results showed that annexin A1, annexin A2, and vimentin were significantly down-regulated in NCL1, NCL2, NCL3, and NCL8 cells; galectin-1 was down-regulated in NCL1, NCL3, and NCL8 but up-regulated in NCL2 cells; and isoform 5 of caldesmon was up-regulated in all NCL cell types. 21242110 2011
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.020 Biomarker disease BEFREE In neutral conditions, pH 6.0, the PPT1 enzyme activities in NCL 1 patients showed rather higher residual activities and intermediate activities in heterozygotes in NCL 1, which was probably caused by mutated proteins in three cases with NCL 1 patients. 29599076 2018
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: 1182
Gene Symbol: CLCN3
CLCN3
0.210 Biomarker disease MGD ClC-3 chloride channels facilitate endosomal acidification and chloride accumulation. 15504734 2005