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: rs1057516264
rs1057516264
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0740279
Disease:
Cerebellar atrophy 		TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1554901898
rs1554901898
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0740279
Disease:
Cerebellar atrophy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554902217
rs1554902217
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0740279
Disease:
Cerebellar atrophy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs864309505
rs864309505
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0740279
Disease:
Cerebellar atrophy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs553522118
rs553522118
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C4024710
Disease:
Cerebellar cortical atrophy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs864309505
rs864309505
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C4024710
Disease:
Cerebellar cortical atrophy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs878855331
rs878855331
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C4024710
Disease:
Cerebellar cortical atrophy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516264
rs1057516264
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0235946
Disease:
Cerebral atrophy 		TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1554901898
rs1554901898
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0235946
Disease:
Cerebral atrophy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1554902217
rs1554902217
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0235946
Disease:
Cerebral atrophy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs864309505
rs864309505
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0235946
Disease:
Cerebral atrophy 		G 0.700 GeneticVariation CLINVAR
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