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 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 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
0.130 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 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 CausalMutation phenotype CLINVAR
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
0.130 Biomarker phenotype HPO