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GATA4
GATA binding protein 4
gene with protein product
OMIM: 600576
8 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
4
Tetralogy of Fallot
ORPHA:3303
→
46,XY partial gonadal dysgenesis
ORPHA:251510
→
Hereditary atrial fibrillation
ORPHA:334
→
Partial atrioventricular septal defect with ventricular hypoplasia
ORPHA:576232
→
Герминативная мутация (причина)
3
Complete atrioventricular septal defect-tetralogy of Fallot
ORPHA:99068
→
Complete atrioventricular septal defect with ventricular hypoplasia
ORPHA:99067
→
Atrial septal defect, ostium secundum type
ORPHA:99103
→
Роль в фенотипе
1
8p23.1 microdeletion syndrome
ORPHA:251071
→
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Редкие заболевания
GATA4
🧬
GATA4
GATA binding protein 4
gene with protein product
OMIM: 600576
8 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
4
Tetralogy of Fallot
ORPHA:3303
→
46,XY partial gonadal dysgenesis
ORPHA:251510
→
Hereditary atrial fibrillation
ORPHA:334
→
Partial atrioventricular septal defect with ventricular hypoplasia
ORPHA:576232
→
Герминативная мутация (причина)
3
Complete atrioventricular septal defect-tetralogy of Fallot
ORPHA:99068
→
Complete atrioventricular septal defect with ventricular hypoplasia
ORPHA:99067
→
Atrial septal defect, ostium secundum type
ORPHA:99103
→
Роль в фенотипе
1
8p23.1 microdeletion syndrome
ORPHA:251071
→