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:

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:

rs121908200

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:

rs121908202

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:

rs121908204

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:

rs121908205

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:

rs28940573

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:

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:

rs121908196

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:

rs121908197

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:

rs121908198

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:

rs121908199

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:

rs121908201

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:

rs121908203

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:

rs121908206

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:

rs121908207

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:

rs121908208

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:

rs121908209

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:

rs121908209

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C0027877
Disease:

Neuronal Ceroid-Lipofuscinoses

0.700

GeneticVariation

CLINVAR

[Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].

12698559

2003

dbSNP:

rs121908210

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:

rs1554902028

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:

rs119455955

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C0027877
Disease:

Neuronal Ceroid-Lipofuscinoses

0.700

CausalMutation

CLINVAR

We analyzed the functional consequences of the mutations R127Q, R208X, N286S, I287N, T353P and Q422H, which were previously identified in patients with late infantile ceroid lipofuscinosis, with regard to enzymatic activity, stability, post-translational processing and intracellular localization of tripeptidyl-peptidase I.

15317752

2004

dbSNP:

rs119455954

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

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:

rs121908195

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

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

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

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

21990111

2012