severe congenital neutropenia Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. (Human Disease Ontology, DOID_0050590)
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Genes

5 genes involed in the disease severe congenital neutropenia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ELANE elastase, neutrophil expressed
G6PC3 glucose 6 phosphatase, catalytic, 3
GFI1 growth factor independent 1 transcription repressor
HAX1 HCLS1 associated protein X-1
WAS Wiskott-Aldrich syndrome