Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6717
Gene Symbol: SRI
SRI
0.020 Biomarker phenotype BEFREE This is the first truly multigenerational family with mutations in ELANE as unambiguous cause of severe congenital neutropenia SCN. 20803142 2011
Entrez Id: 6717
Gene Symbol: SRI
SRI
0.020 Biomarker phenotype BEFREE Patients with Kostmann syndrome (severe congenital neutropenia [SCN]) typically normalize their absolute neutrophil count (ANC) upon granulocyte colony-stimulating factor (G-CSF) therapy. 16584360 2006