DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 ×

Gene: TPP1 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

tripeptidyl peptidase 1

0.551

0.808

6.3E-07

CUI:	C1876161
Disease:	CEROID LIPOFUSCINOSIS, NEURONAL, 2

CEROID LIPOFUSCINOSIS, NEURONAL, 2

disease

1.000

None

1.000

0

1997

2019