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 Biomarker disease GENOMICS_ENGLAND
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 UNIPROT 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 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 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 Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077 1998
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 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 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 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 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 CLINVAR Screening cloned PCR fragments by restriction endonuclease finger-printing to obtain wild-type sequences. 9793631 1998
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 Biomarker disease CTD_human 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 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 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 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 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
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 The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis. 10781062 2000