TPP1, tripeptidyl peptidase 1, 1200

N. diseases: 151; N. variants: 73
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119455954
rs119455954
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		T 0.800 GeneticVariation CLINVAR Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966 2009
dbSNP: rs119455954
rs119455954
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		T 0.800 CausalMutation CLINVAR Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966 2009
dbSNP: rs119455954
rs119455954
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		T 0.800 CausalMutation CLINVAR Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 10330339 1999
dbSNP: rs119455954
rs119455954
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		T 0.800 GeneticVariation CLINVAR Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 10330339 1999
dbSNP: rs119455954
rs119455954
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.800 GeneticVariation UNIPROT
dbSNP: rs119455954
rs119455954
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		T 0.800 GeneticVariation CLINVAR Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. 9295267 1997
dbSNP: rs119455954
rs119455954
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		T 0.800 GeneticVariation 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: rs119455954
rs119455954
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		T 0.800 CausalMutation CLINVAR Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. 9295267 1997
dbSNP: rs119455954
rs119455954
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		T 0.800 GeneticVariation 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
dbSNP: rs119455954
rs119455954
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		T 0.800 GeneticVariation CLINVAR Lysosomal serine protease CLN2 regulates tumor necrosis factor-alpha-mediated apoptosis in a Bid-dependent manner. 19246452 2009
dbSNP: rs121908195
rs121908195
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.800 GeneticVariation UNIPROT Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. 9295267 1997
dbSNP: rs121908195
rs121908195
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.800 GeneticVariation UNIPROT Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity. 14736728 2004
dbSNP: rs121908195
rs121908195
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.800 GeneticVariation UNIPROT Prenatal testing for late infantile neuronal ceroid lipofuscinosis. 10665500 2000
dbSNP: rs121908195
rs121908195
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.800 GeneticVariation UNIPROT Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. 12376936 2002
dbSNP: rs121908195
rs121908195
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		T 0.800 CausalMutation CLINVAR Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139 2010
dbSNP: rs121908195
rs121908195
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763 2009
dbSNP: rs121908195
rs121908195
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		G 0.800 GeneticVariation CLINVAR Prosegment of tripeptidyl peptidase I is a potent, slow-binding inhibitor of its cognate enzyme. 18411270 2008
dbSNP: rs121908195
rs121908195
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.800 GeneticVariation UNIPROT Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles. 12414822 2002
dbSNP: rs121908195
rs121908195
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.800 GeneticVariation UNIPROT Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. 11339651 2001
dbSNP: rs121908195
rs121908195
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.800 GeneticVariation UNIPROT [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation]. 12698559 2003
dbSNP: rs121908195
rs121908195
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		G 0.800 GeneticVariation CLINVAR Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966 2009
dbSNP: rs121908195
rs121908195
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		T 0.800 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: rs121908195
rs121908195
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		T 0.800 CausalMutation CLINVAR Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders. 11589013 2001
dbSNP: rs121908195
rs121908195
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		G 0.800 GeneticVariation CLINVAR Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139 2010
dbSNP: rs121908195
rs121908195
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.800 GeneticVariation UNIPROT Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 10330339 1999