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INPP5E
inositol polyphosphate-5-phosphatase E
gene with protein product
OMIM: 613037
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
4
Isolated Joubert syndrome
ORPHA:475
→
Joubert syndrome with hepatic defect
ORPHA:1454
→
Joubert syndrome with ocular defect
ORPHA:220493
→
MORM syndrome
ORPHA:75858
→
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INPP5E
🧬
INPP5E
inositol polyphosphate-5-phosphatase E
gene with protein product
OMIM: 613037
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
4
Isolated Joubert syndrome
ORPHA:475
→
Joubert syndrome with hepatic defect
ORPHA:1454
→
Joubert syndrome with ocular defect
ORPHA:220493
→
MORM syndrome
ORPHA:75858
→