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GATA6
GATA binding protein 6
gene with protein product
OMIM: 601656
8 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
4
Complete atrioventricular septal defect with ventricular hypoplasia
ORPHA:99067
→
Atrial septal defect, ostium secundum type
ORPHA:99103
→
Common arterial trunk with pulmonary dominance and interrupted aortic arch
ORPHA:665058
→
Common arterial trunk with aortic dominance
ORPHA:665044
→
Основной фактор предрасположенности
2
Congenital diaphragmatic hernia
ORPHA:2140
→
Tetralogy of Fallot
ORPHA:3303
→
Disease-causing germline mutation(s) (loss of function) in
2
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ORPHA:2255
→
Hereditary atrial fibrillation
ORPHA:334
→
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Редкие заболевания
GATA6
🧬
GATA6
GATA binding protein 6
gene with protein product
OMIM: 601656
8 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
4
Complete atrioventricular septal defect with ventricular hypoplasia
ORPHA:99067
→
Atrial septal defect, ostium secundum type
ORPHA:99103
→
Common arterial trunk with pulmonary dominance and interrupted aortic arch
ORPHA:665058
→
Common arterial trunk with aortic dominance
ORPHA:665044
→
Основной фактор предрасположенности
2
Congenital diaphragmatic hernia
ORPHA:2140
→
Tetralogy of Fallot
ORPHA:3303
→
Disease-causing germline mutation(s) (loss of function) in
2
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ORPHA:2255
→
Hereditary atrial fibrillation
ORPHA:334
→