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 GeneticVariation disease UNIPROT 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 GeneticVariation disease UNIPROT Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. 7637805 1995
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 GeneticVariation disease CLINVAR Structural basis of neuronal ceroid lipofuscinosis 1. 19793631 2010
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 GeneticVariation 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 GeneticVariation 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 Biomarker disease GENOMICS_ENGLAND Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077 1998
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 GeneticVariation disease CLINVAR Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients. 21704547 2011
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 GeneticVariation 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 Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. 21499717 2011
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 GeneticVariation 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 GeneticVariation disease CLINVAR Neuronal ceroid lipofuscinoses: research update. 11073228 2000
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 GeneticVariation disease CLINVAR Analysis of NCL Proteins from an Evolutionary Standpoint. 19440452 2008
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 GeneticVariation disease BEFREE CLN1 disease (MIM#256730) is caused by mutations in the CLN1 gene, which encodes palmitoyl protein thioesterase 1 (PPT1). 25865307 2015
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 GeneticVariation disease CLINVAR Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons. 17565660 2007
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 GeneticVariation disease CLINVAR Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland. 9733046 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 GeneticVariation disease CLINVAR A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis. 23857568 2013
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 GeneticVariation disease CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013