DisGeNET - a database of gene-disease associations

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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	1200
Gene Symbol:	TPP1

TPP1

CUI:	C1876161
Disease:	CEROID LIPOFUSCINOSIS, NEURONAL, 2

CEROID LIPOFUSCINOSIS, NEURONAL, 2

1.000

GermlineCausalMutation

ORPHANET

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

2012