TPP1, tripeptidyl peptidase 1, 1200

N. diseases: 151; N. variants: 73
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1218678626
rs1218678626
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111 2012
dbSNP: rs1218678626
rs1218678626
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
dbSNP: rs1218678626
rs1218678626
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 GeneticVariation UNIPROT Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139 2010
dbSNP: rs1218678626
rs1218678626
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763 2009
dbSNP: rs1218678626
rs1218678626
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 GeneticVariation UNIPROT Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity. 14736728 2004
dbSNP: rs1218678626
rs1218678626
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 GeneticVariation UNIPROT [Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation]. 12698559 2003
dbSNP: rs1218678626
rs1218678626
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 GeneticVariation UNIPROT Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles. 12414822 2002
dbSNP: rs1218678626
rs1218678626
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 GeneticVariation UNIPROT Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. 12376936 2002
dbSNP: rs1218678626
rs1218678626
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 GeneticVariation UNIPROT Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis. 11241479 2001
dbSNP: rs1218678626
rs1218678626
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 GeneticVariation UNIPROT Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. 11339651 2001
dbSNP: rs1218678626
rs1218678626
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 GeneticVariation UNIPROT New mutations in the neuronal ceroid lipofuscinosis genes. 11589012 2001
dbSNP: rs1218678626
rs1218678626
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 GeneticVariation UNIPROT Prenatal testing for late infantile neuronal ceroid lipofuscinosis. 10665500 2000
dbSNP: rs1218678626
rs1218678626
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 GeneticVariation UNIPROT Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 10330339 1999
dbSNP: rs1218678626
rs1218678626
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		0.700 GeneticVariation UNIPROT Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. 9295267 1997