CSF3, colony stimulating factor 3, 1440

N. diseases: 687; N. variants: 4
Disease: Neutrophilia, Hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543669
Disease: Neutrophilia, Hereditary
Neutrophilia, Hereditary 		0.010 GeneticVariation disease BEFREE Truncation mutations of the receptor cytoplasmic domain for colony-stimulating factor 3 (CSF3R) are frequently seen in severe congenital neutropenia, whereas activating missense mutations affecting the extracellular domain (exon 14) have been described in hereditary neutrophilia and chronic neutrophilic leukemia (CNL). 23604229 2013