CSF1, colony stimulating factor 1, 1435

N. diseases: 259; N. variants: 7
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 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 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
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: C0029454
Disease: Osteopetrosis
Osteopetrosis
0.290 GeneticVariation disease BEFREE Mice homozygous for the osteopetrosis spontaneous mutation in the colony-stimulating factor 1 gene (Csf1op/op) do not have macrophages; when they are given streptozotocin to induce diabetes, they do not develop delayed gastric emptying. 29501441 2018
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis
0.290 GeneticVariation disease BEFREE We recently mapped tl (toothless), a mutation that causes osteopetrosis in rats, to a genetic region predicted to include the rat Csf1 gene. 12074592 2002
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis
0.290 GeneticVariation disease BEFREE Possible linkage of osteopetrosis to this chromosomal region was analyzed because the CSF-1 gene, which is mutated in the op/op mouse model for osteopetrosis, is located in 1p21. 9311741 1997
CUI: C0017638
Disease: Glioma
Glioma
0.230 GeneticVariation disease BEFREE Many different tumor cell types (breast, ovarian, glioma, liver and colon) were retrovirally transduced with the human macrophage colony stimulating factor (M-CSF) gene (either the membrane associated form [mM-CSF] or the secreted form [sM-CSF]). 11357885 2001
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE CSF1 fusion genes and CBL mutations were not mutually exclusive, and both alterations were detected in six of the 18 (33%) tumors. 31107544 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Southern blot analysis of tumor DNA from six of six of these tumors failed to reveal any rearrangements in the genes for CSF-1 or the CSF-1R. 9116300 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE A tumor microarray (TMA) including >1,200 colorectal cancer specimens was stained with GM-CSF- and M-CSF-specific antibodies. 24737547 2014
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
Aspartate aminotransferase measurement
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
High density lipoprotein measurement
0.100 GeneticVariation phenotype GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.100 GeneticVariation phenotype BEFREE The macrophage response (CSF1) was associated with higher tumor grade, lymphovascular invasion, and PIK3CA mutations (P<0.05). 24263966 2014
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.100 GeneticVariation disease BEFREE Finally downstream target validation was proven for the miR-130a, whose downregulation was linked to the translational activation of the M-CSF gene, a known resistance factor for ovarian cancer. 18823650 2008
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.090 GeneticVariation disease BEFREE Finally downstream target validation was proven for the miR-130a, whose downregulation was linked to the translational activation of the M-CSF gene, a known resistance factor for ovarian cancer. 18823650 2008
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.070 GeneticVariation phenotype BEFREE This region contains the colony stimulating factor 1 gene (CSF1), which may play a role in tumorigenesis of myeloid tissue. 17656259 2007
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.070 GeneticVariation phenotype BEFREE The biologic significance of this translocation is not clear; however, the 1p21 locus is in the region of colony stimulating factor (CSF-1), which may play a role in tumorigenesis, as has been described in pigmented villonodular synovitis and tenosynovial giant cell tumor. 19737647 2009
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.070 GeneticVariation disease BEFREE Finally downstream target validation was proven for the miR-130a, whose downregulation was linked to the translational activation of the M-CSF gene, a known resistance factor for ovarian cancer. 18823650 2008
CUI: C0588125
Disease: Nodular tenosynovitis
Nodular tenosynovitis
0.060 GeneticVariation disease BEFREE The biologic significance of this translocation is not clear; however, the 1p21 locus is in the region of colony stimulating factor (CSF-1), which may play a role in tumorigenesis, as has been described in pigmented villonodular synovitis and tenosynovial giant cell tumor. 19737647 2009