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GNAS
GNAS complex locus
gene with protein product
OMIM: 139320
10 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Соматическая мутация (причина)
4
McCune-Albright syndrome
ORPHA:562
→
Cushing syndrome due to bilateral macronodular adrenocortical disease
ORPHA:189427
→
Polyostotic fibrous dysplasia
ORPHA:93276
→
Monostotic fibrous dysplasia
ORPHA:93277
→
Disease-causing germline mutation(s) (loss of function) in
3
Progressive osseous heteroplasia
ORPHA:2762
→
Pseudopseudohypoparathyroidism
ORPHA:79445
→
Pseudohypoparathyroidism type 1A
ORPHA:79443
→
Герминативная мутация (причина)
2
Pseudohypoparathyroidism type 1C
ORPHA:79444
→
Pseudohypoparathyroidism type 1B
ORPHA:94089
→
Ген-кандидат
1
Mazabraud syndrome
ORPHA:57782
→
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Редкие заболевания
GNAS
🧬
GNAS
GNAS complex locus
gene with protein product
OMIM: 139320
10 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Соматическая мутация (причина)
4
McCune-Albright syndrome
ORPHA:562
→
Cushing syndrome due to bilateral macronodular adrenocortical disease
ORPHA:189427
→
Polyostotic fibrous dysplasia
ORPHA:93276
→
Monostotic fibrous dysplasia
ORPHA:93277
→
Disease-causing germline mutation(s) (loss of function) in
3
Progressive osseous heteroplasia
ORPHA:2762
→
Pseudopseudohypoparathyroidism
ORPHA:79445
→
Pseudohypoparathyroidism type 1A
ORPHA:79443
→
Герминативная мутация (причина)
2
Pseudohypoparathyroidism type 1C
ORPHA:79444
→
Pseudohypoparathyroidism type 1B
ORPHA:94089
→
Ген-кандидат
1
Mazabraud syndrome
ORPHA:57782
→