Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 174
Gene Symbol: AFP
AFP
0.010 Biomarker disease BEFREE Herein, we discuss the molecular and antigenic properties of AFP which make it a disordered protein, and its ability to induce autoantibody production to AFP cryptic epitopes in both HHC and BD patients. 31585923 2020
Entrez Id: 846
Gene Symbol: CASR
CASR
0.010 Biomarker disease BEFREE Herein, we discuss the molecular and antigenic properties of AFP which make it a disordered protein, and its ability to induce autoantibody production to AFP cryptic epitopes in both HHC and BD patients. 31585923 2020
Entrez Id: 834
Gene Symbol: CASP1
CASP1
0.010 Biomarker disease BEFREE Although the molecular targets of aberrant caspase 1 activity in the context of CLN3 mutation remain to be identified, our studies suggest that caspase 1 may represent a potential therapeutic target to mitigate some attributes of CLN3 disease. 29873075 2019
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.010 Biomarker 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: 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 Biomarker 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: 5595
Gene Symbol: MAPK3
MAPK3
0.010 Biomarker disease BEFREE Molecular mechanisms of the juvenile form of Batten disease: important role of MAPK signaling pathways (ERK1/ERK2, JNK and p38) in pathogenesis of the malady. 30621751 2018
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
0.010 Biomarker disease BEFREE Treatment with neuronal lysates and ceramide, a lipid intermediate elevated in the JNCL brain, led to inflammasome activation and IL-1β release in CLN3(Δex7/8) microglia but not WT cells, as well as increased expression of additional pro-inflammatory mediators. 23919525 2013
Entrez Id: 47
Gene Symbol: ACLY
ACLY
0.010 AlteredExpression disease BEFREE We observed an increased expression of PDH and a decreased expression of ACL, PEPCK, and acetyl-GD3 in BD lymphoblast cells compared to normal cells, possibly resulting in the high ROS levels, mitochondrial membrane depolarization, and apoptosis typically found in BD. 23524239 2013
Entrez Id: 6607
Gene Symbol: SMN2
SMN2
0.010 Biomarker disease BEFREE Here we report a Batten disease cell line that lacks functional SMN2, as an ideal system to examine pre-mRNA splicing of SMN1. 23185376 2012
Entrez Id: 7038
Gene Symbol: TG
TG
0.010 Biomarker disease BEFREE Loss of the Batten disease gene CLN3 prevents exit from the TGN of the mannose 6-phosphate receptor. 18817525 2008
Entrez Id: 53
Gene Symbol: ACP2
ACP2
0.010 Biomarker disease BEFREE The data suggest that lysosomal dysfunction and accumulation of storage material require increased biogenesis of LAP/ACP2 and LAMP-2 positive membranes which makes LAP/ACP2 suitable as biomarker of Batten disease. 17868323 2007
Entrez Id: 7939
Gene Symbol: LAP
LAP
0.010 Biomarker disease BEFREE The data suggest that lysosomal dysfunction and accumulation of storage material require increased biogenesis of LAP/ACP2 and LAMP-2 positive membranes which makes LAP/ACP2 suitable as biomarker of Batten disease. 17868323 2007
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
0.010 Biomarker disease BEFREE The data suggest that lysosomal dysfunction and accumulation of storage material require increased biogenesis of LAP/ACP2 and LAMP-2 positive membranes which makes LAP/ACP2 suitable as biomarker of Batten disease. 17868323 2007
Entrez Id: 30818
Gene Symbol: KCNIP3
KCNIP3
0.010 GeneticVariation disease BEFREE Here, we identified CLN3 as a calsenilin-binding partner whose mutation or deletion is observed in Batten disease. 17189291 2007
Entrez Id: 3267
Gene Symbol: AGFG1
AGFG1
0.010 Biomarker disease BEFREE Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway. 15471887 2004
Entrez Id: 2571
Gene Symbol: GAD1
GAD1
0.010 Biomarker disease BEFREE This result is interesting because auto-antibodies to GAD67 and the more widely studied GAD65 homologue encoded by the GAD2 gene, are described in patients with Stiff-Person Syndrome (SPS), epilepsy, cerebellar ataxia and Batten disease. 15571623 2004
Entrez Id: 2395
Gene Symbol: FXN
FXN
0.010 Biomarker disease BEFREE In this review, we discuss how studies in yeast models have already resulted in significant insights into the understanding of neurodegenerative disorders that include prion disease, Parkinson's disease, polyglutamine expansion disorders, Friedreich's ataxia, and Batten disease. 14528057 2003
Entrez Id: 10897
Gene Symbol: YIF1A
YIF1A
0.010 Biomarker disease BEFREE The yeast model for Batten disease: a role for Btn2p in the trafficking of the Golgi-associated vesicular targeting protein, Yif1p. 12615067 2003
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
0.010 GeneticVariation disease BEFREE In the last five years, specific mutations have been defined in Lafora disease (gene for laforin or dual specificity phosphatase in 6q24), Unverricht-Lundborg disease (cystatin B in 21q22.3), Jansky-Bielschowsky ceroid lipofuscinoses (CLN2 gene for tripeptidyl peptidase 1 in 11q15), Finnish variant of late infantile ceroid lipofuscinoses (CLN5 gene in 13q21-32 encodes 407 amino acids with two transmembrane helices of unknown function), juvenile ceroid lipofuscinoses or Batten disease (CLN3 gene in 16p encodes 438 amino acid protein of unknown function), a subtype of Batten disease and infantile ceroid lipofuscinoses of the Haltia-Santavuori type (both are caused by mutations in palmitoyl-protein thiosterase gene at 1p32), dentadorubropallidoluysian atrophy (CAG repeats in a gene in 12p13.31) and the mitochondrial syndrome MERRF (tRNA Lys mutation in mitochondrial DNA). 11579433 2001
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
0.010 GeneticVariation disease BEFREE In the last five years, specific mutations have been defined in Lafora disease (gene for laforin or dual specificity phosphatase in 6q24), Unverricht-Lundborg disease (cystatin B in 21q22.3), Jansky-Bielschowsky ceroid lipofuscinoses (CLN2 gene for tripeptidyl peptidase 1 in 11q15), Finnish variant of late infantile ceroid lipofuscinoses (CLN5 gene in 13q21-32 encodes 407 amino acids with two transmembrane helices of unknown function), juvenile ceroid lipofuscinoses or Batten disease (CLN3 gene in 16p encodes 438 amino acid protein of unknown function), a subtype of Batten disease and infantile ceroid lipofuscinoses of the Haltia-Santavuori type (both are caused by mutations in palmitoyl-protein thiosterase gene at 1p32), dentadorubropallidoluysian atrophy (CAG repeats in a gene in 12p13.31) and the mitochondrial syndrome MERRF (tRNA Lys mutation in mitochondrial DNA). 11579433 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: 4878
Gene Symbol: NPPA
NPPA
0.010 Biomarker disease BEFREE Furthermore, the severity of Batten disease in humans and the degree of ANP resistance in yeast are related when the equivalent amino acid replacements in Cln3p and Btn1p are compared. 9618513 1998
Entrez Id: 596
Gene Symbol: BCL2
BCL2
0.010 Biomarker disease BEFREE Double immunolabeling of brain sections for apoptosis and Bcl-2 supported a protective role for Bcl-2 in the juvenile form of Batten disease. 9151319 1997
Entrez Id: 6693
Gene Symbol: SPN
SPN
0.010 GeneticVariation disease BEFREE Analysis of disease haplotypes for four microsatellite markers in this interval, D16S288, D16S299, D16S298, and SPN, has shown significant allelic association between one allele at each of these loci and CLN3. 7668354 1995