TPP1, tripeptidyl peptidase 1, 1200

N. diseases: 151; N. variants: 73
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 CausalMutation disease CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 GeneticVariation disease CLINVAR Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis. 22221116 2012
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 CausalMutation disease CLINVAR Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses. 22245569 2012
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 CausalMutation disease CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 GeneticVariation disease UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		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
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 GeneticVariation disease CLINVAR Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		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
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 GeneticVariation disease CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 GeneticVariation disease CLINVAR A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis. 20820830 2011
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 GeneticVariation disease CLINVAR 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
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		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
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 GeneticVariation disease BEFREE 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
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 CausalMutation disease CLINVAR 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
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 GeneticVariation disease UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763 2009
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 GeneticVariation disease CLINVAR Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis. 19038967 2009
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 GeneticVariation disease CLINVAR An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients. 19793312 2009
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 GeneticVariation disease CLINVAR Lysosomal serine protease CLN2 regulates tumor necrosis factor-alpha-mediated apoptosis in a Bid-dependent manner. 19246452 2009
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 CausalMutation disease CLINVAR Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966 2009
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 GeneticVariation disease CLINVAR Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966 2009
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 GeneticVariation disease CLINVAR The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. 18684116 2008
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 CausalMutation disease CLINVAR The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. 18684116 2008
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 Biomarker disease MGD Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis. 18343701 2008
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		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
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 GeneticVariation disease CLINVAR Prosegment of tripeptidyl peptidase I is a potent, slow-binding inhibitor of its cognate enzyme. 18411270 2008