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CSF1R
colony stimulating factor 1 receptor
gene with protein product
OMIM: 164770
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
ORPHA:313808
→
Герминативная мутация (причина)
1
Early-onset calcifying leukoencephalopathy-skeletal dysplasia
ORPHA:556985
→
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Редкие заболевания
CSF1R
🧬
CSF1R
colony stimulating factor 1 receptor
gene with protein product
OMIM: 164770
2 заболевания
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Disease-causing germline mutation(s) (loss of function) in
1
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
ORPHA:313808
→
Герминативная мутация (причина)
1
Early-onset calcifying leukoencephalopathy-skeletal dysplasia
ORPHA:556985
→