HOXB8, homeobox B8, 3218

N. diseases: 46; N. variants: 1
Disease: Severe congenital neutropenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853118
Disease: Severe congenital neutropenia
Severe congenital neutropenia 		0.010 GeneticVariation phenotype BEFREE NE-deficient Hoxb8 progenitors were reconstituted with murine and human forms of typical NE mutants representative of SCN and cyclic neutropenia, and differentiation of the cells was analysed in vitro and in vivo. 27942017 2016