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EPAS1
endothelial PAS domain protein 1
gene with protein product
OMIM: 603349
3 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Соматическая мутация (причина)
2
Sporadic pheochromocytoma/secreting paraganglioma
ORPHA:276621
→
Multiple paragangliomas associated with polycythemia
ORPHA:324299
→
Disease-causing germline mutation(s) (gain of function) in
1
Autosomal dominant secondary polycythemia
ORPHA:247511
→
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EPAS1
🧬
EPAS1
endothelial PAS domain protein 1
gene with protein product
OMIM: 603349
3 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Соматическая мутация (причина)
2
Sporadic pheochromocytoma/secreting paraganglioma
ORPHA:276621
→
Multiple paragangliomas associated with polycythemia
ORPHA:324299
→
Disease-causing germline mutation(s) (gain of function) in
1
Autosomal dominant secondary polycythemia
ORPHA:247511
→