Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adult-onset leukoencephalopathy with axonal spheroids and pigmented glia | | ISO | CSF1R (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16523341 more ... | Alzheimer's disease | | ISO | CSF1R (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alzheimer disease | ClinVar | PMID:30279455 | BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS | | ISO | CSF1R (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brain abnormalities more ... | ClinVar | PMID:22503135 more ... | disease of cellular proliferation | | ISO | CSF1R (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neoplasm | ClinVar | PMID:2406720 and PMID:25157968 | familial adenomatous polyposis 1 | | ISO | CSF1R (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial adenomatous polyposis 1 | ClinVar | PMID:17963004 more ... | frontotemporal dementia | | ISO | CSF1R (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar | PMID:25741868 | genetic disease | | ISO | CSF1R (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:24120500 more ... | Hematologic Neoplasms | | ISO | CSF1R (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hematologic neoplasm | ClinVar | PMID:18971950 more ... | Hereditary Neoplastic Syndromes | | ISO | CSF1R (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar | PMID:17963004 more ... | myeloid neoplasm | | ISO | CSF1R (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myeloproliferative disorder | ClinVar | PMID:18971950 | Neurodevelopmental Disorders | | ISO | CSF1R (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Parkinsonism | | ISO | CSF1R (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parkinsonism | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | High co-expression of IL-34 and M-CSF correlates with tumor progression and poor survival in lung cancers. | Baghdadi M, etal., Sci Rep. 2018 Jan 11;8(1):418. doi: 10.1038/s41598-017-18796-8. |
| 2. | Colony-stimulating factor 1 (CSF-1) is involved in an autocrine growth control of rat myogenic cells. | Borycki AG, etal., Exp Cell Res. 1995 May;218(1):213-22. doi: 10.1006/excr.1995.1149. |
| 3. | Molecular cloning of CSF-1 receptor from rat myoblasts. Sequence analysis and regulation during myogenesis. | Borycki AG, etal., Growth Factors 1992;6(3):209-18. |
| 4. | Molecular cloning of CSF-1 receptor from rat myoblasts. Sequence analysis and regulation during myogenesis. | Borycki AG, etal., Growth Factors 1992;6(3):209-18. |
| 5. | Repression of the CSF-1 receptor (c-fms proto-oncogene product) by antisense transfection induces G1-growth arrest in L6 alpha 1 rat myoblasts. | Borycki AG, etal., Oncogene. 1995 May 4;10(9):1799-811. |
| 6. | Proto-oncogene expression in proliferating and differentiating cardiac and skeletal muscle. | Claycomb WC and Lanson NA, Biochem J. 1987 Nov 1;247(3):701-6. doi: 10.1042/bj2470701. |
| 7. | Effects of the cFMS kinase inhibitor 5-(3-methoxy-4-((4-methoxybenzyl)oxy)benzyl)pyrimidine-2,4-diamine (GW2580) in normal and arthritic rats. | Conway JG, etal., J Pharmacol Exp Ther. 2008 Jul;326(1):41-50. doi: 10.1124/jpet.107.129429. Epub 2008 Apr 23. |
| 8. | CSF1R methylation is a key regulatory mechanism of tumor-associated macrophages in hepatocellular carcinoma. | Cui B, etal., Oncol Lett. 2020 Aug;20(2):1835-1845. doi: 10.3892/ol.2020.11726. Epub 2020 Jun 11. |
| 9. | [Methylation status of c-fms oncogene in hepatocellular carcinoma and its relation with clinical pathology]. | Cui J and Yang D, Zhonghua Gan Zang Bing Za Zhi. 2001 Jun;9(3):137-8. |
| 10. | The potential mechanism of INHBC and CSF1R in diabetic nephropathy. | Du XY, etal., Eur Rev Med Pharmacol Sci. 2020 Feb;24(4):1970-1978. doi: 10.26355/eurrev_202002_20374. |
| 11. | qPCR in gastrointestinal stromal tumors: Evaluation of reference genes and expression analysis of KIT and the alternative receptor tyrosine kinases FLT3, CSF1-R, PDGFRB, MET and AXL. | Fassunke J, etal., BMC Mol Biol. 2010 Dec 20;11:100. doi: 10.1186/1471-2199-11-100. |
| 12. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 13. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 14. | Up-regulation of VEGF, c-fms and COX-2 expression correlates with severity of cervical cancer precursor (CIN) lesions and invasive disease. | Hammes LS, etal., Gynecol Oncol. 2008 Jun 18. |
| 15. | Role of macrophages in the fibrotic phase of rat crescentic glomerulonephritis. | Han Y, etal., Am J Physiol Renal Physiol. 2013 Apr 15;304(8):F1043-53. doi: 10.1152/ajprenal.00389.2012. Epub 2013 Feb 13. |
| 16. | c-fms blockade reverses glomerular macrophage infiltration and halts development of crescentic anti-GBM glomerulonephritis in the rat. | Han Y, etal., Lab Invest. 2011 Jul;91(7):978-91. doi: 10.1038/labinvest.2011.61. Epub 2011 Apr 25. |
| 17. | Response of amoeboid microglia/brain macrophages in fetal rat brain exposed to a teratogen. | Hao AJ, etal., J Neurosci Res. 2001 Apr 1;64(1):79-93. doi: 10.1002/jnr.1056. |
| 18. | The cardiotoxicity and myocyte damage caused by small molecule anticancer tyrosine kinase inhibitors is correlated with lack of target specificity. | Hasinoff BB, Toxicol Appl Pharmacol. 2010 Apr 15;244(2):190-5. doi: 10.1016/j.taap.2009.12.032. Epub 2010 Jan 4. |
| 19. | A novel role for protein tyrosine phosphatase shp1 in controlling glial activation in the normal and injured nervous system. | Horvat A, etal., J Neurosci 2001 Feb 1;21(3):865-74. |
| 20. | Macrophage colony-stimulating factor induces prolactin expression in rat pituitary gland. | Hoshino S, etal., Zoolog Sci. 2014 Jun;31(6):390-7. doi: 10.2108/zs130226. |
| 21. | Rapid activation of tumor-associated macrophages boosts preexisting tumor immunity. | Hoves S, etal., J Exp Med. 2018 Mar 5;215(3):859-876. doi: 10.1084/jem.20171440. Epub 2018 Feb 7. |
| 22. | Rh-CSF1 attenuates neuroinflammation via the CSF1R/PLCG2/PKCε pathway in a rat model of neonatal HIE. | Hu X, etal., J Neuroinflammation. 2020 Jun 10;17(1):182. doi: 10.1186/s12974-020-01862-w. |
| 23. | Rh-CSF1 Attenuates Oxidative Stress and Neuronal Apoptosis via the CSF1R/PLCG2/PKA/UCP2 Signaling Pathway in a Rat Model of Neonatal HIE. | Hu X, etal., Oxid Med Cell Longev. 2020 Oct 7;2020:6801587. doi: 10.1155/2020/6801587. eCollection 2020. |
| 24. | CSF-1 receptor-dependent colon development, homeostasis and inflammatory stress response. | Huynh D, etal., PLoS One. 2013;8(2):e56951. doi: 10.1371/journal.pone.0056951. Epub 2013 Feb 22. |
| 25. | Expression of colony-stimulating factor 1 receptor during prostate development and prostate cancer progression. | Ide H, etal., Proc Natl Acad Sci U S A. 2002 Oct 29;99(22):14404-9. Epub 2002 Oct 15. |
| 26. | A novel glycobiomarker, Wisteria floribunda agglutinin macrophage colony-stimulating factor receptor, for predicting carcinogenesis of liver cirrhosis. | Iio E, etal., Int J Cancer. 2016 Mar 15;138(6):1462-71. doi: 10.1002/ijc.29880. Epub 2015 Oct 20. |
| 27. | Preventive and therapeutic effects of imatinib in Wistar-Kyoto rats with anti-glomerular basement membrane glomerulonephritis. | Iyoda M, etal., Kidney Int. 2009 May;75(10):1060-70. doi: 10.1038/ki.2009.43. Epub 2009 Feb 25. |
| 28. | Distinct in vivo roles of colony-stimulating factor-1 isoforms in renal inflammation. | Jang MH, etal., J Immunol. 2006 Sep 15;177(6):4055-63. |
| 29. | Ultrasound Molecular Imaging as a Potential Non-invasive Diagnosis to Detect the Margin of Hepatocarcinoma via CSF-1R Targeting. | Jiang Q, etal., Front Bioeng Biotechnol. 2020 Jul 14;8:783. doi: 10.3389/fbioe.2020.00783. eCollection 2020. |
| 30. | Expression of proto-oncogene cFMS protein in lung, breast, and ovarian cancers. | Kakiuchi-Kiyota S, etal., Appl Immunohistochem Mol Morphol. 2014 Mar;22(3):188-99. doi: 10.1097/PAI.0b013e31828e7104. |
| 31. | A functional polymorphism in CSF1R gene is a novel susceptibility marker for lung cancer among never-smoking females. | Kang HG, etal., J Thorac Oncol. 2014 Nov;9(11):1647-55. doi: 10.1097/JTO.0000000000000310. |
| 32. | Expression of CSF-1 receptor on TRAP-positive multinuclear cells around the erupting molars in rats. | Kawakami M, etal., J Craniofac Genet Dev Biol. 1999 Oct-Dec;19(4):213-20. |
| 33. | Macrophage colony-stimulating factor-1 receptor expression is associated with poor outcome in breast cancer by large cohort tissue microarray analysis. | Kluger HM, etal., Clin Cancer Res. 2004 Jan 1;10(1 Pt 1):173-7. |
| 34. | Differential expression of protooncogenes related to transformation and cancer progression in rat myoblasts. | Leibovitch SA, etal., Cancer Res. 1986 Aug;46(8):4097-103. |
| 35. | Antibody blockade of c-fms suppresses the progression of inflammation and injury in early diabetic nephropathy in obese db/db mice. | Lim AK, etal., Diabetologia. 2009 May 23. |
| 36. | Multiple receptor tyrosine kinases are expressed in adult rat retinal ganglion cells as revealed by single-cell degenerate primer polymerase chain reaction. | Lindqvist N, etal., Ups J Med Sci. 2010 Feb;115(1):65-80. doi: 10.3109/03009731003597119. |
| 37. | Expression of macrophage colony-stimulating factor (M-CSF) and its receptor in streptozotocin-induced diabetic rats. | Liu W, etal., Curr Eye Res. 2009 Feb;34(2):123-33. doi: 10.1080/02713680802650369. |
| 38. | Intravital imaging reveals distinct responses of depleting dynamic tumor-associated macrophage and dendritic cell subpopulations. | Lohela M, etal., Proc Natl Acad Sci U S A. 2014 Nov 25;111(47):E5086-95. doi: 10.1073/pnas.1419899111. Epub 2014 Nov 10. |
| 39. | Targeting renal macrophage accumulation via c-fms kinase reduces tubular apoptosis but fails to modify progressive fibrosis in the obstructed rat kidney. | Ma FY, etal., Am J Physiol Renal Physiol. 2009 Jan;296(1):F177-85. Epub 2008 Nov 5. |
| 40. | Macrophages contribute to cellular but not humoral mechanisms of acute rejection in rat renal allografts. | Ma FY, etal., Transplantation. 2013 Dec 15;96(11):949-57. doi: 10.1097/TP.0b013e3182a4befa. |
| 41. | Characterization and identification of subpopulations of mononuclear preosteoclasts induced by TNF-α in combination with TGF-β in rats. | Matsubara R, etal., PLoS One. 2012;7(10):e47930. doi: 10.1371/journal.pone.0047930. Epub 2012 Oct 24. |
| 42. | Autocrine CSF-1 and CSF-1 receptor coexpression promotes renal cell carcinoma growth. | Menke J, etal., Cancer Res. 2012 Jan 1;72(1):187-200. doi: 10.1158/0008-5472.CAN-11-1232. Epub 2011 Nov 3. |
| 43. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 44. | Role of macrophage colony-stimulating factor in the development of neointimal thickening following arterial injury. | Mishra V, etal., Cardiovasc Pathol. 2016 Jul-Aug;25(4):284-292. doi: 10.1016/j.carpath.2016.04.003. Epub 2016 Apr 11. |
| 45. | In vitro proliferation of axotomized rat facial nucleus-derived activated microglia in an autocrine fashion. | Nakajima K, etal., J Neurosci Res. 2006 Aug 1;84(2):348-59. doi: 10.1002/jnr.20882. |
| 46. | Expressions of RANKL/RANK and M-CSF/c-fms in root resorption lacunae in rat molar by heavy orthodontic force. | Nakano Y, etal., Eur J Orthod. 2011 Aug;33(4):335-43. doi: 10.1093/ejo/cjq068. Epub 2010 Sep 10. |
| 47. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 48. | A c-fms tyrosine kinase inhibitor, Ki20227, suppresses osteoclast differentiation and osteolytic bone destruction in a bone metastasis model. | Ohno H, etal., Mol Cancer Ther. 2006 Nov;5(11):2634-43. |
| 49. | Colony-stimulating factor-1 and colony-stimulating factor-1 receptor co-expression is associated with disease progression in gastric cancer. | Okugawa Y, etal., Int J Oncol. 2018 Aug;53(2):737-749. doi: 10.3892/ijo.2018.4406. Epub 2018 May 16. |
| 50. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 51. | Online Mendelian Inheritance in Man, OMIM (TM). | Online Mendelian Inheritance in Man, OMIM (TM). |
| 52. | Inhibition of the colony-stimulating-factor-1 receptor affects the resistance of lung cancer cells to cisplatin. | Pass HI, etal., Oncotarget. 2016 Aug 30;7(35):56408-56421. doi: 10.18632/oncotarget.10895. |
| 53. | Analysis of homozygous and heterozygous Csf1r knockout in the rat as a model for understanding microglial function in brain development and the impacts of human CSF1R mutations. | Patkar OL, etal., Neurobiol Dis. 2021 Apr;151:105268. doi: 10.1016/j.nbd.2021.105268. Epub 2021 Jan 12. |
| 54. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 55. | Targeting distinct tumor-infiltrating myeloid cells by inhibiting CSF-1 receptor: combating tumor evasion of antiangiogenic therapy. | Priceman SJ, etal., Blood. 2010 Feb 18;115(7):1461-71. doi: 10.1182/blood-2009-08-237412. Epub 2009 Dec 11. |
| 56. | Pleiotropic Impacts of Macrophage and Microglial Deficiency on Development in Rats with Targeted Mutation of the Csf1r Locus. | Pridans C, etal., J Immunol. 2018 Nov 1;201(9):2683-2699. doi: 10.4049/jimmunol.1701783. Epub 2018 Sep 24. |
| 57. | Characterization of differential gene expression profiles in diabetic embryopathy using DNA microarray analysis. | Reece EA, etal., Am J Obstet Gynecol. 2006 Oct;195(4):1075-80. doi: 10.1016/j.ajog.2006.05.054. |
| 58. | GOA pipeline | RGD automated data pipeline |
| 59. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 60. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 61. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 62. | The prognostic impact of M-CSF, CSF-1 receptor, CD68 and CD3 in prostatic carcinoma. | Richardsen E, etal., Histopathology. 2008 May 28;. |
| 63. | Targeting tumor-associated macrophages with anti-CSF-1R antibody reveals a strategy for cancer therapy. | Ries CH, etal., Cancer Cell. 2014 Jun 16;25(6):846-59. doi: 10.1016/j.ccr.2014.05.016. Epub 2014 Jun 2. |
| 64. | Paradoxical stimulation of normal and leukemic rat hematopoiesis by monoclonal antibody to CSF-1 receptor. | Shadduck RK, etal., Exp Hematol. 1996 Feb;24(2):314-7. |
| 65. | Inflammatory Foreign Body Response Induced by Neuro-Implants in Rat Cortices Depleted of Resident Microglia by a CSF1R Inhibitor and Its Implications. | Sharon A, etal., Front Neurosci. 2021 Mar 26;15:646914. doi: 10.3389/fnins.2021.646914. eCollection 2021. |
| 66. | Characterization of a p53/miR-34a/CSF1R/STAT3 Feedback Loop in Colorectal Cancer. | Shi X, etal., Cell Mol Gastroenterol Hepatol. 2020;10(2):391-418. doi: 10.1016/j.jcmgh.2020.04.002. Epub 2020 Apr 15. |
| 67. | The co-regulatory networks of tumor suppressor genes, oncogenes, and miRNAs in colorectal cancer. | Slattery ML, etal., Genes Chromosomes Cancer. 2017 Nov;56(11):769-787. doi: 10.1002/gcc.22481. Epub 2017 Jul 30. |
| 68. | c-fms is present in primary tumours as well as in their metastases in bone marrow. | Storga D, etal., Int J Exp Pathol. 1992 Aug;73(4):527-33. |
| 69. | The promotion of breast cancer metastasis caused by inhibition of CSF-1R/CSF-1 signaling is blocked by targeting the G-CSF receptor. | Swierczak A, etal., Cancer Immunol Res. 2014 Aug;2(8):765-76. doi: 10.1158/2326-6066.CIR-13-0190. Epub 2014 Apr 29. |
| 70. | Molecular profiles of non-small cell lung cancers in cigarette smoking and never-smoking patients. | Szymanowska-Narloch A, etal., Adv Med Sci. 2013;58(2):196-206. doi: 10.2478/ams-2013-0025. |
| 71. | Loss of heterozygosity and copy number abnormality in clear cell renal cell carcinoma discovered by high-density affymetrix 10K single nucleotide polymorphism mapping array. | Toma MI, etal., Neoplasia. 2008 Jul;10(7):634-42. |
| 72. | Macrophage colony-stimulating factor release and receptor expression in bone cells. | Weir EC, etal., J Bone Miner Res. 1993 Dec;8(12):1507-18. doi: 10.1002/jbmr.5650081214. |
| 73. | Localization and expression of CSF-1 receptor in rat dental follicle cells. | Wise GE, etal., J Dent Res. 1997 Jun;76(6):1244-9. doi: 10.1177/00220345970760060301. |
| 74. | The relationship between point mutation and abnormal expression of c-fms oncogene in hepatocellular carcinoma. | Yang DH, etal., Hepatobiliary Pancreat Dis Int. 2004 Feb;3(1):86-9. |
| 75. | Chemokine and chemokine receptor expression during colony stimulating factor-1-induced osteoclast differentiation in the toothless osteopetrotic rat: a key role for CCL9 (MIP-1gamma) in osteoclastogenesis in vivo and in vitro. | Yang M, etal., Blood. 2006 Mar 15;107(6):2262-70. doi: 10.1182/blood-2005-08-3365. Epub 2005 Nov 22. |
| 76. | Identification of prognostic biomarkers for response to radiotherapy by DNA microarray in nasopharyngeal carcinoma patients. | Yang S, etal., Int J Oncol. 2012 May;40(5):1590-600. doi: 10.3892/ijo.2012.1341. Epub 2012 Jan 20. |
| 77. | Effects of polymorphisms identified in genome-wide association studies of never-smoking females on the prognosis of non-small cell lung cancer. | Yoo SS, etal., Cancer Genet. 2017 Apr;212-213:8-12. doi: 10.1016/j.cancergen.2017.03.003. Epub 2017 Mar 20. |
| 78. | Single-Cell Analyses Inform Mechanisms of Myeloid-Targeted Therapies in Colon Cancer. | Zhang L, etal., Cell. 2020 Apr 16;181(2):442-459.e29. doi: 10.1016/j.cell.2020.03.048. |
| 79. | CSF-1 signaling mediates recovery from acute kidney injury. | Zhang MZ, etal., J Clin Invest. 2012 Dec 3;122(12):4519-32. doi: 10.1172/JCI60363. Epub 2012 Nov 12. |
| 80. | Four hub genes regulate tumor infiltration by immune cells, antitumor immunity in the tumor microenvironment, and survival outcomes in lung squamous cell carcinoma patients. | Zhang T, etal., Aging (Albany NY). 2021 Jan 10;13(3):3819-3842. doi: 10.18632/aging.202351. Epub 2021 Jan 10. |
Additional References at PubMed
| PMID:2408759 | PMID:7681396 | PMID:7683918 | PMID:8007983 | PMID:8262059 | PMID:8922060 | PMID:12477932 | PMID:15117969 | PMID:15860730 | PMID:16170366 | PMID:16705167 | PMID:18814279 |
| PMID:19017797 | PMID:19100238 | PMID:20504948 | PMID:20536329 | PMID:20829061 | PMID:20889566 | PMID:21610095 | PMID:22451653 | PMID:22542597 | PMID:23392676 | PMID:26754294 | PMID:34081701 |
| PMID:37059596 | PMID:37167456 |
Genomics
Comparative Map Data
| Csf1r (Rattus norvegicus - Norway rat) |
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| CSF1R (Homo sapiens - human) |
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| Csf1r (Mus musculus - house mouse) |
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| Csf1r (Chinchilla lanigera - long-tailed chinchilla) |
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| CSF1R (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CSF1R (Canis lupus familiaris - dog) |
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| Csf1r (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CSF1R (Sus scrofa - pig) |
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| CSF1R (Chlorocebus sabaeus - green monkey) |
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| Csf1r (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Csf1r
235 total Variants 
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