DisGeNET - a database of gene-disease associations

TPP1, tripeptidyl peptidase 1, 1200

N. diseases: 151; N. variants: 73

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs119455954

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.800

GeneticVariation

UNIPROT

dbSNP:

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

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

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

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

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

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

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

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

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

dbSNP:

rs121908195

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.800

GeneticVariation

UNIPROT

Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.

11241479

2001

dbSNP:

rs121908195

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.800

GeneticVariation

UNIPROT

Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.

20340139

2010

dbSNP:

rs121908195

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.800

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:

rs121908195

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.800

GeneticVariation

UNIPROT

New mutations in the neuronal ceroid lipofuscinosis genes.

11589012

2001

dbSNP:

rs121908195

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.800

GeneticVariation

UNIPROT

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

22612257

2012

dbSNP:

rs121908200

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:

rs121908200

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:

rs121908200

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.800

GeneticVariation

UNIPROT

Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.

11241479

2001

dbSNP:

rs121908200

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.800

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:

rs121908200

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:

rs121908200

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:

rs121908200

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

dbSNP:

rs121908200

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:

rs121908200

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.800

GeneticVariation

UNIPROT

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

22612257

2012

dbSNP:

rs121908200

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.800

GeneticVariation

UNIPROT

Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.

20340139

2010