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C1R
complement C1r
gene with protein product
OMIM: 613785
3 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
1
Immunodeficiency due to a classical component pathway complement deficiency
ORPHA:169147
→
Disease-causing germline mutation(s) (loss of function) in
1
Autosomal systemic lupus erythematosus
ORPHA:300345
→
Disease-causing germline mutation(s) (gain of function) in
1
Periodontal Ehlers-Danlos syndrome
ORPHA:75392
→
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Редкие заболевания
C1R
🧬
C1R
complement C1r
gene with protein product
OMIM: 613785
3 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
1
Immunodeficiency due to a classical component pathway complement deficiency
ORPHA:169147
→
Disease-causing germline mutation(s) (loss of function) in
1
Autosomal systemic lupus erythematosus
ORPHA:300345
→
Disease-causing germline mutation(s) (gain of function) in
1
Periodontal Ehlers-Danlos syndrome
ORPHA:75392
→