Severe congenital neutropenia Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=42738
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Genes

1 genes associated with the Severe congenital neutropenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
CSF3R colony stimulating factor 3 receptor (granulocyte)