Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 GermlineCausalMutation disease ORPHANET Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 CausalMutation disease CLINVAR Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. 19941651 2009
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 CausalMutation disease CLINVAR The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. 10781062 2000
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 CausalMutation disease CLINVAR 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 		0.980 CausalMutation disease CLINVAR Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis. 11520175 2001
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 CausalMutation disease CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 CausalMutation disease CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165 2013
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 CausalMutation disease CLINVAR Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1). 10679943 2000
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 CausalMutation disease CLINVAR Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. 21499717 2011
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 CausalMutation disease CLINVAR Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077 1998
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 CausalMutation disease CLINVAR Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. 9425237 1998
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 CausalMutation disease CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 CausalMutation disease CLINVAR Infantile neuronal ceroid lipofuscinosis: follow-up on a Spanish series. 22387303 2012
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 CausalMutation disease CLINVAR A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient. 9571187 1998
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 CausalMutation disease CLINVAR The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland. 10191109 1999
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 CausalMutation disease CLINVAR Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. 7637805 1995
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 CausalMutation disease CLINVAR The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells. 28878621 2017
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 CausalMutation 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 		0.980 CausalMutation disease CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 AlteredExpression disease BEFREE The homozygous sheep were found to have significantly reduced PPT1 enzyme activity and accumulate autofluorescent storage material, as is observed in CLN1 patients. 31289301 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.020 AlteredExpression disease BEFREE When clinical signs suggest an NCL, TPP1 enzyme activity should be among the first tests performed (together with the palmitoyl-protein thioesterase enzyme activity assay to rule out CLN1 disease). 27553878 2016
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 Biomarker disease BEFREE Moreover, these modules were interrelated with the pathological effects associated with loss of PPT1 function, similarly as observed in the <i>Ppt1</i> knockout mice and patients with CLN1 disease. 28878621 2017
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 Biomarker disease MGD The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy. 25205113 2015
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 Biomarker disease BEFREE To examine the effects of PPT1 deficiency on several well-defined neuronal signaling and cell death pathways, different toxic insults were applied in cerebellar granule neuron cultures prepared from wild type (WT) and palmitoyl protein thioesterase 1-deficient (Ppt1 <sup>-/-</sup> ) mice, a model of infantile CLN1 disease. 27722792 2017