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: rs1554902052
rs1554902052
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		C 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs1554902052
rs1554902052
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		C 0.700 GeneticVariation CLINVAR Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. 11339651 2001