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DAG1
dystroglycan 1
gene with protein product
OMIM: 128239
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
3
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
ORPHA:280333
→
Isolated asymptomatic elevation of creatine phosphokinase
ORPHA:206599
→
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
ORPHA:370997
→
Disease-causing germline mutation(s) (loss of function) in
1
Walker-Warburg syndrome
ORPHA:899
→
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Редкие заболевания
DAG1
🧬
DAG1
dystroglycan 1
gene with protein product
OMIM: 128239
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
3
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
ORPHA:280333
→
Isolated asymptomatic elevation of creatine phosphokinase
ORPHA:206599
→
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
ORPHA:370997
→
Disease-causing germline mutation(s) (loss of function) in
1
Walker-Warburg syndrome
ORPHA:899
→