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ANO5
anoctamin 5
gene with protein product
OMIM: 608662
5 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
5
Anoctamin-5-related limb-girdle muscular dystrophy R12
ORPHA:206549
→
Isolated asymptomatic elevation of creatine phosphokinase
ORPHA:206599
→
Distal anoctaminopathy
ORPHA:399096
→
Gnathodiaphyseal dysplasia
ORPHA:53697
→
Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome
ORPHA:689021
→
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Редкие заболевания
ANO5
🧬
ANO5
anoctamin 5
gene with protein product
OMIM: 608662
5 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
5
Anoctamin-5-related limb-girdle muscular dystrophy R12
ORPHA:206549
→
Isolated asymptomatic elevation of creatine phosphokinase
ORPHA:206599
→
Distal anoctaminopathy
ORPHA:399096
→
Gnathodiaphyseal dysplasia
ORPHA:53697
→
Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome
ORPHA:689021
→