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: rs121908202
rs121908202
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 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: rs121908202
rs121908202
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.700 CausalMutation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
dbSNP: rs121908202
rs121908202
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.700 CausalMutation CLINVAR Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139 2010
dbSNP: rs121908202
rs121908202
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.700 CausalMutation CLINVAR Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 10330339 1999