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 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 GeneticVariation disease UNIPROT 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 Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations. 19302939 2009
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 GeneticVariation disease CLINVAR The genetic spectrum of human neuronal ceroid-lipofuscinoses. 14997939 2004
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 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 Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5. 10477428 1999
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 GeneticVariation disease CLINVAR Translation initiation at non-AUG triplets in mammalian cells. 2538469 1989
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 GeneticVariation 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 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 Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study. 24997880 2014
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 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 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 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 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 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