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:

rs121908202

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.800

GeneticVariation

CLINVAR

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

20340139

2010

dbSNP:

rs121908204

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:

rs121908204

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.800

GeneticVariation

CLINVAR

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

20340139

2010

dbSNP:

rs121908205

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:

rs121908205

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.800

GeneticVariation

CLINVAR

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

20340139

2010

dbSNP:

rs28940573

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:

rs119455954

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

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

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

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

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

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

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.800

GeneticVariation

CLINVAR

Lysosomal serine protease CLN2 regulates tumor necrosis factor-alpha-mediated apoptosis in a Bid-dependent manner.

19246452

2009

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

CLINVAR

Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.

19038966

2009

dbSNP:

rs121908195

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.800

CausalMutation

CLINVAR

Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.

19038966

2009

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:

rs121908202

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:

rs121908202

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.800

GeneticVariation

CLINVAR

Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.

19038966

2009

dbSNP:

rs121908204

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:

rs121908205

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.800

GeneticVariation

CLINVAR

Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.

19038966

2009

dbSNP:

rs121908205

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:

rs121908205

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

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:

rs28940573

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

CLINVAR

Prosegment of tripeptidyl peptidase I is a potent, slow-binding inhibitor of its cognate enzyme.

18411270

2008

dbSNP:

rs121908204

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 2

0.800

GeneticVariation

CLINVAR

Neurological deterioration in late infantile neuronal ceroid lipofuscinosis.

17679671

2007

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:

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