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IKZF1
IKAROS family zinc finger 1
gene with protein product
OMIM: 603023
5 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
3
Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency
ORPHA:317473
→
Combined immunodeficiency due to dimerization defective IKAROS mutation
ORPHA:695172
→
Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation
ORPHA:697414
→
Основной фактор предрасположенности
1
Stevens-Johnson syndrome
ORPHA:36426
→
Биомаркер
1
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
ORPHA:585909
→
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Редкие заболевания
IKZF1
🧬
IKZF1
IKAROS family zinc finger 1
gene with protein product
OMIM: 603023
5 заболеваний
GeneCards ↗
Open Targets ↗
NCBI Gene ↗
OMIM ↗
Ассоциированные заболевания
Герминативная мутация (причина)
3
Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency
ORPHA:317473
→
Combined immunodeficiency due to dimerization defective IKAROS mutation
ORPHA:695172
→
Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation
ORPHA:697414
→
Основной фактор предрасположенности
1
Stevens-Johnson syndrome
ORPHA:36426
→
Биомаркер
1
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
ORPHA:585909
→