DisGeNET - a database of gene-disease associations

Gene: TCTN2 ×

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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:	79867
Gene Symbol:	TCTN2

TCTN2

CUI:	C0431399
Disease:	Familial aplasia of the vermis

Familial aplasia of the vermis

0.600

GermlineCausalMutation

ORPHANET

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.

2011