Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE The lysosomal storage of lipofuscins is the common pathological feature that characterizes the infantile, late-infantile, juvenile (Batten's disease), and Finnish-variant neuronal ceroid lipofuscinosis (INCL, LINCL, JNCL and FNCL), which are due to mutations in the genes CLN1, CLN2, CLN3, and CLN5, respectively. 11085596 2000
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE In five of the eight NCL variants distinguished at present, genes associated with the disease process have been isolated and characterized (CLN1, CLN2, CLN3, CLN5, CLN8). 11332776 2001
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE The NCLs are clinically and genetically heterogeneous and more than 14 genetically distinct NCL subtypes have been described to date (CLN1-CLN14) (Haltia and Goebel, 2012 [1]). 23274885 2013
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Cases of ceroid lipofuscinosis with cytoplasmic storage of granular osmiophilic deposits are associated with reduced activity of palmitoyl-protein thioesterase-1 (PPT-1) and mutations in CLN1, and occur from infancy to adulthood. 19302939 2009
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Marker typing across the CLN1 region suggests that JNCL with GROD may be an allelic variant of infantile NCL. 9151314 1997
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease CLINVAR Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. 11440996 2001
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation 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: 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: 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: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Mutations in the depalmitoylating enzyme gene, PPT1, cause the infantile form of Neuronal Ceroid Lipofuscinosis (NCL), an early onset neurodegenerative disease. 26731412 2016
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 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: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Additionally, compound heterozygous pathogenic variants of PPT1 gene were detected in a girl, who initially displayed typical RTT features, but progressed into neuronal ceroid lipofuscinoses (NCL) afterwards. 31512412 2019
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE To date, 10 NCL entities (CLN1-CLN10) are known and characterized by accumulation of autofluorescent storage material, age of onset and clinical symptoms. 19807737 2010
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Fourteen distinct NCL subtypes (CLN1-CLN14) are known, and they are caused by mutations in different genes. 26443629 2016
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE We determined that the mutations 223A --> G and 451C --> T in CLN1, T523-1G --> C, and 636 C --> T in CLN2, and deletion of a 1.02-kb genomic fragment in CLN3 are the five common mutations for NCL. 11142754 2000
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis. 10649502 2000
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: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE CLN1 disease (OMIM #256730) is an early childhood ceroid-lipofuscinosis associated with mutated <i>CLN1</i>, whose product Palmitoyl-Protein Thioesterase 1 (PPT1) is a lysosomal enzyme involved in the removal of palmitate residues from S-acylated proteins. 28878621 2017
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE We describe a patient with juvenile-onset NCL phenotype with a new CLN1 mutation and deficient PPT activity. 17388982 2007
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease LHGDN The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease. 12025857 2002
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: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE The CLN1, CLN2 and CLN3 genes are associated to the infantile, late infantile and juvenile forms of NCL, respectively. 11589016 2001
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE Mutations in the gene encoding a lysosomal enzyme, palmitoyl protein thioesterase (PPT), cause infantile NCL (locus CLN1 on chromosome 1p32) or Haltia-Santavuori disease. 10446748 1999
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease BEFREE The late-infantile-onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among the autosomal recessive neuronal ceroid lipofuscinoses (NCLs), with causative mutations found in CLN1, CLN2, CLN5, CLN6, CLN7 (MFSD8), and CLN8 genes. 19431184 2009
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
0.400 GeneticVariation disease CLINVAR Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077 1998