HAX1, HCLS1 associated protein X-1, 10456

N. diseases: 59; N. variants: 9
Disease: leukemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023418
Disease: leukemia
leukemia 		0.110 GeneticVariation disease BEFREE The recent findings include identification of mutations in HAX1 in autosomal recessive severe congenital neutropenia (Kostmann disease), a large epidemiological study estimating the risk of progression from severe congenital neutropenia to leukemia, a better understanding of how heterozygous mutations in neutrophil elastase (ELA2) cause severe congenital neutropenia, molecular characterization of a novel syndromic form of severe congenital neutropenia called p14 deficiency and new animal models for several syndromic forms of severe congenital neutropenia. 17989524 2007
CUI: C0023418
Disease: leukemia
leukemia 		0.110 Biomarker disease HPO