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CYP11A1
cytochrome P450 family 11 subfamily A member 1
gene with protein product
OMIM: 118485
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
2
46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
ORPHA:168558
→
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
ORPHA:289548
→
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Редкие заболевания
CYP11A1
🧬
CYP11A1
cytochrome P450 family 11 subfamily A member 1
gene with protein product
OMIM: 118485
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
2
46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
ORPHA:168558
→
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
ORPHA:289548
→