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POMK
protein O-mannose kinase
gene with protein product
OMIM: 615247
3 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
3
Congenital muscular dystrophy with cerebellar involvement
ORPHA:370959
→
Limb-girdle muscular dystrophy due to POMK deficiency
ORPHA:445110
→
Walker-Warburg syndrome
ORPHA:899
→
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Редкие заболевания
POMK
🧬
POMK
protein O-mannose kinase
gene with protein product
OMIM: 615247
3 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
3
Congenital muscular dystrophy with cerebellar involvement
ORPHA:370959
→
Limb-girdle muscular dystrophy due to POMK deficiency
ORPHA:445110
→
Walker-Warburg syndrome
ORPHA:899
→