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CRELD1
CRELD disulfide isomerase 1
gene with protein product
OMIM: 607170
3 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Основной фактор предрасположенности
2
Complete atrioventricular septal defect-tetralogy of Fallot
ORPHA:99068
→
Complete atrioventricular septal defect with ventricular hypoplasia
ORPHA:99067
→
Disease-causing germline mutation(s) (loss of function) in
1
Partial atrioventricular septal defect without ventricular hypoplasia
ORPHA:576235
→
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Редкие заболевания
CRELD1
🧬
CRELD1
CRELD disulfide isomerase 1
gene with protein product
OMIM: 607170
3 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Основной фактор предрасположенности
2
Complete atrioventricular septal defect-tetralogy of Fallot
ORPHA:99068
→
Complete atrioventricular septal defect with ventricular hypoplasia
ORPHA:99067
→
Disease-causing germline mutation(s) (loss of function) in
1
Partial atrioventricular septal defect without ventricular hypoplasia
ORPHA:576235
→