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 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
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 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 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 Translation initiation at non-AUG triplets in mammalian cells. 2538469 1989
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		0.980 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.020 Biomarker disease BEFREE To identify candidate biomarkers, we analyzed autopsy brain and matching CSF samples from controls and three genetically distinct NCLs due to deficiencies in palmitoyl protein thioesterase 1 (CLN1 disease), tripeptidyl peptidase 1 (CLN2 disease), and CLN3 protein (CLN3 disease). 28792770 2017
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: 6812
Gene Symbol: STXBP1
STXBP1 		0.010 Biomarker disease BEFREE Significant alterations in protein expression were identified in each NCL, including reduced STXBP1 in CLN1 disease brain. 28792770 2017