Gene: TPP1 ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.130 CausalMutation phenotype CLINVAR
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.130 Biomarker phenotype HPO
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.130 GeneticVariation phenotype 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
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.130 GeneticVariation phenotype CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.130 GeneticVariation phenotype CLINVAR Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966 2009
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		0.130 GeneticVariation phenotype CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012