DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Meckel-Gruber syndrome ×

Gene: TCTN2 ×

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:	79867
Gene Symbol:	TCTN2

TCTN2

CUI:	C0265215
Disease:	Meckel-Gruber syndrome

Meckel-Gruber syndrome

0.410

GermlineCausalMutation

ORPHANET

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.

2011