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: rs121908209
rs121908209
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 GeneticVariation CLINVAR [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation]. 12698559 2003
dbSNP: rs121908209
rs121908209
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR