Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 Biomarker disease GENOMICS_ENGLAND CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype. 17959406 2008
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 GeneticVariation disease UNIPROT New mutations in the neuronal ceroid lipofuscinosis genes. 11589012 2001
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 GeneticVariation disease UNIPROT There are 35 missense mutations among 68 different mutations in the TPP1 gene, which encodes tripeptidyl peptidase I (TPPI), a lysosomal aminopeptidase associated with classic late-infantile neuronal ceroid lipofuscinosis (CLN2 disease). 20340139 2010
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 GeneticVariation disease UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763 2009
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 GeneticVariation disease UNIPROT Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. 12376936 2002
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 GeneticVariation disease UNIPROT Prenatal testing for late infantile neuronal ceroid lipofuscinosis. 10665500 2000
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 GeneticVariation disease UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 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: 1200
Gene Symbol: TPP1
TPP1 		1.000 GeneticVariation disease UNIPROT Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. 9295267 1997
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 GeneticVariation disease UNIPROT [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation]. 12698559 2003
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 GeneticVariation disease UNIPROT Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis. 11241479 2001
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 GeneticVariation disease UNIPROT Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles. 12414822 2002
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 GeneticVariation disease UNIPROT Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity. 14736728 2004
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 GeneticVariation disease UNIPROT Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 10330339 1999
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 GeneticVariation disease UNIPROT Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. 11339651 2001
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 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: 1200
Gene Symbol: TPP1
TPP1 		1.000 Biomarker disease MGD A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration. 15483130 2004
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 Biomarker disease MGD Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis. 18343701 2008
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 Biomarker disease CTD_human
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 GeneticVariation disease CLINVAR Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 GeneticVariation disease CLINVAR Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis. 11241479 2001
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 GeneticVariation disease CLINVAR Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis. 22221116 2012
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		1.000 GeneticVariation disease CLINVAR A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis. 26032578 2015