DisGeNET - a database of gene-disease associations

Source: LHGDN

Disease: Cri-du-Chat Syndrome ×

Gene: TERT ×

Results per page

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:	7015
Gene Symbol:	TERT

TERT

CUI:	C0010314
Disease:	Cri-du-Chat Syndrome

Cri-du-Chat Syndrome

0.340

AlteredExpression

LHGDN

Accordingly, the hTERT deletion may be one genetic element contributing to the phenotypic changes in CdCS.

2003