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C1R

complement C1r

gene with protein productOMIM: 6137853 заболевания
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Герминативная мутация (причина)1
Immunodeficiency due to a classical component pathway complement deficiencyORPHA:169147
→
Disease-causing germline mutation(s) (loss of function) in1
Autosomal systemic lupus erythematosusORPHA:300345
→
Disease-causing germline mutation(s) (gain of function) in1
Periodontal Ehlers-Danlos syndromeORPHA:75392
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Данные: Orphadata (CC-BY-4.0)