| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.380 | GeneticVariation | disease | BEFREE | Ontologies of genes whose expression changes by NCD38 were canceled due to the GFI1-SE deletion showed enrichment in AML and neutropenia signatures. | 31676828 | 2020 | ||||
|
0.380 | Biomarker | disease | BEFREE | Using Gfi1 knock-out mice (Gfi1-ko/ko) as SCN model, we studied the relationship between neutropenia and bone mass upon different pathogen load conditions. | 29879182 | 2018 | ||||
|
0.380 | Biomarker | disease | BEFREE | Cyclical neutropenia is usually caused by heterozygous <i>ELANE</i> mutations while congenital neutropenia is genetically heterogeneous with mutations in genes like <i>ELANE, HAX-1, G6PC3</i> and <i>GFI1.</i> The presence of <i>ELANE</i> mutation aids in the establishment of diagnosis and rules out other secondary causes of neutropenia such as autoimmune cytopenia and evolving aplasia. | 30171085 | 2018 | ||||
|
0.380 | GeneticVariation | disease | BEFREE | Mutations in the genes ELANE, CSF3R and GFI1 have been reported in patients with autosomal dominant congenital neutropenias. | 20803142 | 2011 | ||||
|
0.380 | Biomarker | disease | BEFREE | In the mouse, Gfi1 deficiency causes neutropenia and an accumulation of granulomonocytic precursor cells that is reminiscent of a myelodysplastic syndrome. | 20075157 | 2010 | ||||
|
0.380 | GeneticVariation | disease | BEFREE | Mutations in GFI1 are associated with human SCN, and genetic deletion of Gfi1 results in murine neutropenia. | 18328744 | 2008 | ||||
|
0.380 | Biomarker | disease | BEFREE | In an effort to identify Gfi1-interacting proteins and also to generate new candidate genes causing neutropenia, we performed a yeast two-hybrid screen with Gfi1. | 17636019 | 2007 | ||||
|
0.380 | Biomarker | disease | BEFREE | We therefore screened GFI1 as a candidate for association with neutropenia in affected individuals without mutations in ELA2 (encoding neutrophil elastase), the most common cause of severe congenital neutropenia (SCN; ref.3). | 12778173 | 2003 | ||||
|
0.380 | Biomarker | disease | HPO | |||||||
|
0.380 | Biomarker | disease | MGD |