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PURA
purine rich element binding protein A
gene with protein product
OMIM: 600473
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Роль в фенотипе
1
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
ORPHA:314655
→
Герминативная мутация (причина)
1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
ORPHA:438216
→
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PURA
🧬
PURA
purine rich element binding protein A
gene with protein product
OMIM: 600473
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Роль в фенотипе
1
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
ORPHA:314655
→
Герминативная мутация (причина)
1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
ORPHA:438216
→