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MTOR
mechanistic target of rapamycin kinase
gene with protein product
OMIM: 601231
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Соматическая мутация (причина)
3
Isolated focal cortical dysplasia type IIb
ORPHA:269008
→
Isolated focal cortical dysplasia type IIa
ORPHA:269001
→
Hemimegalencephaly
ORPHA:99802
→
Disease-causing germline mutation(s) (gain of function) in
1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
ORPHA:457485
→
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Редкие заболевания
MTOR
🧬
MTOR
mechanistic target of rapamycin kinase
gene with protein product
OMIM: 601231
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Соматическая мутация (причина)
3
Isolated focal cortical dysplasia type IIb
ORPHA:269008
→
Isolated focal cortical dysplasia type IIa
ORPHA:269001
→
Hemimegalencephaly
ORPHA:99802
→
Disease-causing germline mutation(s) (gain of function) in
1
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
ORPHA:457485
→