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TSHR
thyroid stimulating hormone receptor
gene with protein product
OMIM: 603372
5 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
3
Hypothyroidism due to TSH receptor mutations
ORPHA:90673
→
Athyreosis
ORPHA:95713
→
Thyroid hypoplasia
ORPHA:95720
→
Герминативная мутация (причина)
2
Familial hyperthyroidism due to mutations in TSH receptor
ORPHA:424
→
Familial gestational hyperthyroidism
ORPHA:99819
→
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Редкие заболевания
TSHR
🧬
TSHR
thyroid stimulating hormone receptor
gene with protein product
OMIM: 603372
5 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
3
Hypothyroidism due to TSH receptor mutations
ORPHA:90673
→
Athyreosis
ORPHA:95713
→
Thyroid hypoplasia
ORPHA:95720
→
Герминативная мутация (причина)
2
Familial hyperthyroidism due to mutations in TSH receptor
ORPHA:424
→
Familial gestational hyperthyroidism
ORPHA:99819
→