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STIM1
stromal interaction molecule 1
gene with protein product
OMIM: 605921
3 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (gain of function) in
2
Stormorken-Sjaastad-Langslet syndrome
ORPHA:3204
→
Tubular aggregate myopathy
ORPHA:2593
→
Герминативная мутация (причина)
1
Combined immunodeficiency due to STIM1 deficiency
ORPHA:317430
→
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Редкие заболевания
STIM1
🧬
STIM1
stromal interaction molecule 1
gene with protein product
OMIM: 605921
3 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (gain of function) in
2
Stormorken-Sjaastad-Langslet syndrome
ORPHA:3204
→
Tubular aggregate myopathy
ORPHA:2593
→
Герминативная мутация (причина)
1
Combined immunodeficiency due to STIM1 deficiency
ORPHA:317430
→