CEBPA, CCAAT enhancer binding protein alpha, 1050

N. diseases: 201; N. variants: 21
Disease: Immunodeficiency congenital ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0853602
Disease: Immunodeficiency congenital
Immunodeficiency congenital 		0.010 Biomarker disease BEFREE Thus, GATA2 joins RUNX1 and CEBPA not only as a familial leukemia gene but also as a cause of a complex congenital immunodeficiency that evolves over decades and combines predisposition to infection and myeloid malignancy. 21670465 2011