Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7942
Gene Symbol: TFEB
TFEB
0.010 GeneticVariation disease BEFREE The discovery of the machinery controlling endo-lysosomal function via transcription factor EB (TFEB) and mTORC1, have also shed light on potential mechanisms by which NCL mutations may exert their effect. 31678162 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.010 GeneticVariation disease BEFREE Also we confirmed that NCL should be suspected in patients with Rett-like phenotype at onset and negative MECP2 mutation. 30144815 2018
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: 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: 93627
Gene Symbol: TBCK
TBCK
0.010 GeneticVariation disease BEFREE Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)? 30591081 2018
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
0.010 Biomarker disease BEFREE Increased Expression of the Large Conductance, Calcium-Activated K+ (BK) Channel in Adult-Onset Neuronal Ceroid Lipofuscinosis. 25905915 2015
Entrez Id: 4308
Gene Symbol: TRPM1
TRPM1
0.010 Biomarker disease BEFREE Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis. 24668847 2014
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
0.010 GeneticVariation disease BEFREE Mutations or overexpression of the wild type form of α-synuclein have been related to Parkinson's disease, and CSPα mutations cause one type of neuronal ceroid lipofuscinosis. 24036317 2014
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
0.010 AlteredExpression disease BEFREE In line with a potential pathological overlap of FTLD and NCL, Ctsd(-/-) mice, a model for NCL, show elevated levels of the FTLD-associated proteins GRN and TMEM106B. 24619111 2014
Entrez Id: 7922
Gene Symbol: SLC39A7
SLC39A7
0.010 Biomarker disease BEFREE Substantial progressive loss of the ER/Golgi-resident Zn transporter, Zip7, which colocalized with the disease-associated protein, CLN6, may contribute to the subcellular deregulation of biometal homeostasis in NCLs. 24581221 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.010 GeneticVariation disease BEFREE An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation. 22727047 2012
Entrez Id: 158866
Gene Symbol: ZDHHC15
ZDHHC15
0.010 Biomarker disease BEFREE In total six PATs (HIP14, HIP14L, ZDHHC8, ZDHHC9, ZDHHC12, and ZDHHC15) and one thioesterase (PPT1) have been implicated in Huntington disease (HD), Alzheimer disease, schizophrenia, mental retardation, and infantile and adult onset forms of neuronal ceroid lipofuscinosis. 22155432 2012
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: 3956
Gene Symbol: LGALS1
LGALS1
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: 1808
Gene Symbol: DPYSL2
DPYSL2
0.010 Biomarker disease BEFREE To further understand the significance and possible contribution to vLINCL of the CLN6-CRMP-2 interaction, we utilized the nclf mouse, which harbors mutations in CLN6. 19235893 2009
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: 2572
Gene Symbol: GAD2
GAD2
0.010 Biomarker disease LHGDN Intermittent prednisolone and autoantibodies to GAD65 in juvenile neuronal ceroid lipofuscinosis. 18378887 2008
Entrez Id: 5603
Gene Symbol: MAPK13
MAPK13
0.010 Biomarker disease LHGDN Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL. 16644870 2006
Entrez Id: 4142
Gene Symbol: MAS1
MAS1
0.010 GeneticVariation disease BEFREE The purpose of this study was to compare the in vivo 1.5-T 1H magnetic resonance (MR) and ex vivo 14.3-T high-resolution (HR) magic angle spinning (MAS) 1H MR brain spectra of patients with infantile (CLN1) and juvenile (CLN3) types of NCL, to obtain detailed information about the alterations in the neuronal metabolite profiles in these diseases and to test the suitability of the ex vivo HR MAS (1)H MRS technique in analysis of autopsy brain tissue. 15352223 2004
Entrez Id: 2571
Gene Symbol: GAD1
GAD1
0.010 Biomarker disease LHGDN Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders. 15571623 2004
Entrez Id: 6648
Gene Symbol: SOD2
SOD2
0.010 AlteredExpression disease LHGDN Enhanced expression of manganese-dependent superoxide dismutase in human and sheep CLN6 tissues. 12946273 2003
Entrez Id: 10404
Gene Symbol: CPQ
CPQ
0.010 GeneticVariation disease BEFREE The classic late infantile form of neuronal ceroid lipofuscinosis (CLN2, cLINCL) is associated with mutations in the gene encoding tripeptidyl-peptidase I (TPP-I), a lysosomal aminopeptidase that cleaves off tripeptides from the free N-termini of oligopeptides. 11589013 2001
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.010 Biomarker disease BEFREE The gene responsible for the human juvenile form of neuronal ceroid lipofuscinosis (CLN3), maps close to TSC2 and PKD1 in humans, and is also syntenic in the dog. 10782211 2000
Entrez Id: 6863
Gene Symbol: TAC1
TAC1
0.010 GeneticVariation disease BEFREE A preliminary expression study of two of these mutant enzymes supports the conclusion that juvenile-onset NCL (JNCL with GROD) is caused by missense mutations in the PPT gene that result in mutated enzymes with residual PPT enzyme activity. 10191107 1999
Entrez Id: 5536
Gene Symbol: PPP5C
PPP5C
0.010 GeneticVariation disease BEFREE A preliminary expression study of two of these mutant enzymes supports the conclusion that juvenile-onset NCL (JNCL with GROD) is caused by missense mutations in the PPT gene that result in mutated enzymes with residual PPT enzyme activity. 10191107 1999