Features include common findings: Secundum atrial septal defect; and sometimes findings: Bicuspid aortic valve and High blood pressure in lung arteries (pulmonary arterial hypertension).

GATA6 encodes GATA binding protein 6 (595 aa). Transcriptional activator. Regulates SEMA3C and PLXNA2. Involved in gene regulation specifically in the gastric epithelium. May regulate genes that protect epithelial cells from bacterial infection. Highest expression in Ovary (121.3 TPM) and Adrenal Gland (65.6 TPM).

Atrial septal defect 9 is associated with mutations in the GATA6 gene on chromosome 18.

The GATA6 protein participates in GATA6-AS1 lncRNA, Expression of GATA6 in cardiogenesis, and Expression of GATA6 in definitive endoderm pathways.

GATA6 is classified as a druggable target (Clinically Actionable, Transcription Factor, and Transcription Factor Complex categories) with score 13.1.

Genetic testing for GATA6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for atrial septal defect 9 has been reported in the published literature.

Phenotype severity distribution: 1 common feature.

No clinical trials have been registered for atrial septal defect 9.

222 publications have been identified in PubMed for atrial septal defect 9. Research spans Clinical Trial Publication (34%), Epidemiology / Natural History (27%), and Case Report / Case Series (16%).