SF3B6, splicing factor 3b subunit 6, 51639

N. diseases: 116; N. variants: 0
Disease: Congenital neutropenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		0.020 GeneticVariation disease BEFREE HAX1, p14 etc) in autosomal recessive CN, with HAX1 mutations in the majority of these patients. 19120359 2009
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia 		0.020 Biomarker 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