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 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 GeneticVariation disease CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
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 Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations. 19302939 2009
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 GeneticVariation disease UNIPROT Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins. 19941651 2009
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 GeneticVariation disease UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763 2009
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 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 [Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis]. 17044973 2006
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 Biomarker disease MGD Mice with Ppt1Deltaex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons. 15649713 2005
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 GeneticVariation disease CLINVAR The genetic spectrum of human neuronal ceroid-lipofuscinoses. 14997939 2004
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 GeneticVariation disease CLINVAR Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. 12796825 2003
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 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 		0.980 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 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 GeneticVariation disease CLINVAR New mutations in the neuronal ceroid lipofuscinosis genes. 11589012 2001
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 GeneticVariation disease UNIPROT Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. 11506414 2001
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 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 GeneticVariation 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 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 Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis. 10649502 2000