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CASR
calcium sensing receptor
gene with protein product
OMIM: 601199
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
2
Neonatal severe primary hyperparathyroidism
ORPHA:417
→
Familial hypocalciuric hypercalcemia type 1
ORPHA:93372
→
Ген-кандидат
1
Autosomal dominant hereditary chronic pancreatitis
ORPHA:676
→
Disease-causing germline mutation(s) (gain of function) in
1
Autosomal dominant hypocalcemia
ORPHA:428
→
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Редкие заболевания
CASR
🧬
CASR
calcium sensing receptor
gene with protein product
OMIM: 601199
4 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
2
Neonatal severe primary hyperparathyroidism
ORPHA:417
→
Familial hypocalciuric hypercalcemia type 1
ORPHA:93372
→
Ген-кандидат
1
Autosomal dominant hereditary chronic pancreatitis
ORPHA:676
→
Disease-causing germline mutation(s) (gain of function) in
1
Autosomal dominant hypocalcemia
ORPHA:428
→