TPP1, tripeptidyl peptidase 1, 1200

N. diseases: 151; N. variants: 73
Disease: Neuronal Ceroid-Lipofuscinoses ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202189057
rs202189057
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
dbSNP: rs202189057
rs202189057
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
dbSNP: rs202189057
rs202189057
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation 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
dbSNP: rs202189057
rs202189057
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients. 19793312 2009