TPP1, tripeptidyl peptidase 1, 1200

N. diseases: 151; N. variants: 73
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.130 GeneticVariation phenotype CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540 2013
CUI: C0036572
Disease: Seizures
Seizures 		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
CUI: C0036572
Disease: Seizures
Seizures 		0.130 GeneticVariation phenotype CLINVAR Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966 2009
CUI: C0036572
Disease: Seizures
Seizures 		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
CUI: C0036572
Disease: Seizures
Seizures 		0.130 GeneticVariation phenotype BEFREE Disease from CLN2 mutations had an earlier presentation (p = 0.003) and seizure onset (p < 0.001) compared with CLN6 mutation. 18684116 2008
CUI: C0036572
Disease: Seizures
Seizures 		0.130 GeneticVariation phenotype LHGDN Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy. 16168594 2006
CUI: C0036572
Disease: Seizures
Seizures 		0.130 Biomarker phenotype BEFREE Classical late-infantile neuronal ceroid lipofuscinosis (LINCL; CLN2) is an inherited neurodegenerative disorder of childhood characterized by seizures, loss of vision, and progressive motor and mental deterioration. 10737126 1998
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.130 Biomarker phenotype HPO