DisGeNET - a database of gene-disease associations

Ostium secundum atrial septal defect, C0344724

Gene: GATA6 ×

Source: ALL

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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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

0.400

GermlineCausalMutation

disease

ORPHANET

A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.

2010

Entrez Id:	2627
Gene Symbol:	GATA6

GATA6

0.400

Biomarker

disease

HPO