CSF3R, colony stimulating factor 3 receptor, 1441

N. diseases: 120; N. variants: 12
Disease: Myelodysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		0.020 GeneticVariation disease BEFREE Truncation mutations of CSF3R, encoding the granulocyte colony-stimulating factor receptor (G-CSFR), are associated with development of myelodysplasia/AML in severe congenital neutropenia. 21911095 2011
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		0.020 GeneticVariation disease BEFREE G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia. 19794089 2009