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GATA1
GATA binding protein 1
gene with protein product
OMIM: 305371
8 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
4
Beta-thalassemia-X-linked thrombocytopenia syndrome
ORPHA:231393
→
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
ORPHA:363727
→
Thrombocytopenia with congenital dyserythropoietic anemia
ORPHA:67044
→
Congenital erythropoietic porphyria
ORPHA:79277
→
Соматическая мутация (причина)
2
Transient myeloproliferative syndrome
ORPHA:420611
→
Acute megakaryoblastic leukemia in children with Down syndrome
ORPHA:99887
→
Disease-causing germline mutation(s) (loss of function) in
1
Diamond-Blackfan anemia
ORPHA:124
→
Часть слитого гена
1
Acute basophilic leukemia
ORPHA:86849
→
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Редкие заболевания
GATA1
🧬
GATA1
GATA binding protein 1
gene with protein product
OMIM: 305371
8 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
4
Beta-thalassemia-X-linked thrombocytopenia syndrome
ORPHA:231393
→
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
ORPHA:363727
→
Thrombocytopenia with congenital dyserythropoietic anemia
ORPHA:67044
→
Congenital erythropoietic porphyria
ORPHA:79277
→
Соматическая мутация (причина)
2
Transient myeloproliferative syndrome
ORPHA:420611
→
Acute megakaryoblastic leukemia in children with Down syndrome
ORPHA:99887
→
Disease-causing germline mutation(s) (loss of function) in
1
Diamond-Blackfan anemia
ORPHA:124
→
Часть слитого гена
1
Acute basophilic leukemia
ORPHA:86849
→