Gene: TPP1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 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 		0.700 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 		0.700 GeneticVariation disease LHGDN [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation]. 12698559 2003
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 GeneticVariation disease LHGDN R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis. 12950156 2003
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 Biomarker disease LHGDN Clinical features, histological findings, and genetic study reveal that CLN2 type is the most common form of neuronal ceroid lipofuscinosis. 17690061 2007
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 AlteredExpression disease LHGDN Herein, we report that three NCL disease forms with similar tissue pathology are connected at the molecular level: CLN5 polypeptides directly interact with the CLN2 and CLN3 proteins based on coimmunoprecipitation and in vitro binding assays. 12134079 2002
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 Biomarker disease CTD_human Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis. 11589009 2001
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 Biomarker disease CTD_human Increased brain lysosomal pepstatin-insensitive proteinase activity in patients with neurodegenerative diseases. 10320038 1999
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 GeneticVariation disease CLINVAR [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation]. 12698559 2003
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency. 18283468 2008
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). 23418007 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR 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 		0.700 CausalMutation disease CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis. 9788728 1998
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR 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 		0.700 CausalMutation disease CLINVAR Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene. 10356316 1999
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation disease CLINVAR Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. 26075876 2015
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 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
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation 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 		0.700 CausalMutation disease CLINVAR Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes. 15317752 2004
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 CausalMutation 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
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 GeneticVariation disease CLINVAR 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 		0.700 CausalMutation disease CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.700 GeneticVariation disease CLINVAR Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. 11339651 2001