CSF1, colony stimulating factor 1, 1435

N. diseases: 259; N. variants: 7
Disease: Osteitis Deformans ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.340 Biomarker disease BEFREE However, PDB patients without SQSTM1 mutations seem to have susceptibility genetic polymorphisms in regions containing the CaSR, ESR1, TNFRSF11B (OPG), TNFRSF11A (RANK), CSF1 (M-CSF), OPTN, TM7SF4 (DC-STAMP), VCP, NUP205, RIN3, PML, and GOLGA6A genes, resulting in an increased risk of developing PDB. 21959292 2012
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.340 GeneticVariation disease BEFREE We previously identified variants at the CSF1, OPTN and TNFRSF11A loci as risk factors for PDB by genome-wide association study. 21623375 2011
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.340 GeneticVariation disease BEFREE Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. 20436471 2010
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.340 Biomarker disease CTD_human These studies provide new insights into the pathogenesis of PDB and identify OPTN, CSF1 and TNFRSF11A as candidate genes for disease susceptibility. 20436471 2010
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.340 GeneticVariation disease BEFREE The majority of the genetic risk for Paget's disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes. 20839008 2010