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TMEM43
transmembrane protein 43
gene with protein product
OMIM: 612048
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
3
Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
ORPHA:293910
→
Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
ORPHA:293899
→
Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
ORPHA:293888
→
Герминативная мутация (причина)
1
Autosomal dominant Emery-Dreifuss muscular dystrophy
ORPHA:98853
→
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Редкие заболевания
TMEM43
🧬
TMEM43
transmembrane protein 43
gene with protein product
OMIM: 612048
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
3
Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
ORPHA:293910
→
Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
ORPHA:293899
→
Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
ORPHA:293888
→
Герминативная мутация (причина)
1
Autosomal dominant Emery-Dreifuss muscular dystrophy
ORPHA:98853
→