CSF1R, colony stimulating factor 1 receptor, 1436

N. diseases: 356; N. variants: 60
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031099
Disease: Periodontitis
Periodontitis
0.010 Biomarker disease BEFREE PTPN2 and CSF1R are potential targets for the therapy of diabetic periodontitis or other bone loss-related diseases. 31373168 2019
CUI: C0043124
Disease: West Nile Fever
West Nile Fever
0.010 Biomarker disease BEFREE Mice treated with CSF1R antagonist prior to infection exhibited higher susceptibility to lethal WNV infection and lack of virologic control in both the CNS and periphery. 30704498 2019
CUI: C0079680
Disease: Lentivirus Infections
Lentivirus Infections
0.010 AlteredExpression group BEFREE In the present study, we investigated whether colony-stimulating factor 1 receptor (CSF1R) is expressed on brain macrophages and microglia in the human and macaque brain and whether it is upregulated and activated after lentivirus infection in vivo and contributes to development of encephalitic lesions. 31033097 2019
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
0.010 GeneticVariation disease BEFREE An Autopsy Proven Case of CSF1R-mutant Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) with Premature Ovarian Failure. 30853829 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
0.010 GeneticVariation group BEFREE Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. 30982609 2019
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration
0.010 Biomarker disease BEFREE Increased colony-stimulating factor 1/colony-stimulating factor 1 receptor signaling is involved in the disc degeneration-induced microglia activation and back pain. 30326776 2019
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
0.010 Biomarker disease BEFREE CSF1R and BTK inhibitions as novel strategies to disrupt the dialog between mantle cell lymphoma and macrophages. 30940906 2019
CUI: C0398597
Disease: Histiocytic syndrome
Histiocytic syndrome
0.010 GeneticVariation disease BEFREE In this study, we uncovered activating mutations in CSF1R and rearrangements in RET and ALK that conferred dramatic responses to selective inhibition of RET (selpercatinib) and crizotinib, respectively, in patients with histiocytosis. 31768065 2019
CUI: C0432262
Disease: Dysosteosclerosis
Dysosteosclerosis
0.010 GeneticVariation disease BEFREE Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. 30982609 2019
CUI: C0751295
Disease: Memory Loss
Memory Loss
0.010 GeneticVariation phenotype BEFREE The mother and two elderly siblings of the proband had the same CSF1R mutation as the proband but showed very mild neuroimaging abnormalities and mild memory loss, which did not affect daily life, indicating very uneven penetrance and distinctly different disease progression among family members. 31191609 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.010 GeneticVariation disease BEFREE We present a case of a patient with a pathogenic variant in the CSF1R gene with clinical and imaging features suggestive of Dementia with Lewy Bodies (DLB). 30968732 2019
CUI: C0949664
Disease: Tauopathies
Tauopathies
0.010 GeneticVariation group BEFREE In this study, we tested the efficacy of the selective CSF1R inhibitor JNJ-40346527 (JNJ-527) in the P301S mouse tauopathy model. 31504240 2019
CUI: C1096184
Disease: West Nile viral infection
West Nile viral infection
0.010 AlteredExpression disease BEFREE Pharmacological inactivation of CSF1R was achieved using PLX5622 prior to infection with virulent or attenuated strains of West Nile virus (WNV), an emerging neuropathogen. 30704498 2019
CUI: C1257965
Disease: Compensatory Hyperinsulinemia
Compensatory Hyperinsulinemia
0.010 Biomarker disease BEFREE We used chemical (clodronate), genetics (CD169-diphtheria toxin receptor mice), or antibody-mediated (colony-stimulating factor 1 receptor α) macrophage ablation methods in diabetic (db/db) and diet-induced models of compensatory hyperinsulinemia to investigate the role of macrophages in islet remodeling. 31573842 2019
CUI: C1318485
Disease: Liver regeneration disorder
Liver regeneration disorder
0.010 AlteredExpression phenotype BEFREE However, the expression of Csf1r and Mer on KC subsets and the importance of these tyrosine kinases during liver regeneration (LR) are unknown. 31042769 2019
CUI: C1695782
Disease: Cerebral hypoperfusion
Cerebral hypoperfusion
0.010 Biomarker disease BEFREE Here, we used PLX3397, a colony-stimulating factor 1 receptor inhibitor, to deplete microglia in mice with chronic cerebral hypoperfusion induced by bilateral common carotid artery stenosis (BCAS). 31097227 2019
CUI: C2748208
Disease: Executive dysfunction
Executive dysfunction
0.010 Biomarker disease BEFREE Here we address for the first time preclinical topics crucial for translation, most importantly <i>1</i>) the comparison of 2 long-term PLX5622 applications (prevention and treatment) <i>vs.</i> 1 treatment alone, <i>2</i>) the correlation of catatonic signs and executive dysfunction, <i>3</i>) the phenotype of leftover microglia evading depletion, and <i>4</i>) the role of intercellular interactions for efficient CSF1R inhibition. 31090455 2019
Behavioral and psychological symptoms of dementia
0.010 GeneticVariation phenotype BEFREE <i>CSF1R</i>-related leukoencephalopathy, also known as hereditary diffuse leukoencephalopathy with spheroids (HDLS), is a rare white-matter encephalopathy characterized by motor and neuropsychiatric symptoms due to colony-stimulating factor 1 receptor (<i>CSF1R</i>) gene mutation. 31827782 2019
CUI: C4721414
Disease: Mantle cell lymphoma
Mantle cell lymphoma
0.010 Biomarker disease BEFREE Finally, we showed that targeting the CSF1R abrogated MϕMCL-dependent MCL survival, irrespective of their sensitivity to ibrutinib. 30940906 2019
CUI: C0003467
Disease: Anxiety
Anxiety
0.010 Biomarker disease BEFREE Moreover, microglial depletion with a CSF1R antagonist prior to stress prevented the recruitment of monocytes to the brain and abrogated the development of anxiety. 28373688 2018
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
0.010 Biomarker group BEFREE Moreover, microglial depletion with a CSF1R antagonist prior to stress prevented the recruitment of monocytes to the brain and abrogated the development of anxiety. 28373688 2018
CUI: C0005940
Disease: Bone Diseases
Bone Diseases
0.010 Biomarker group BEFREE Colony stimulation factor-1 receptor (CSF-1R), which is also known as FMS kinase, plays an important role in initiating inflammatory, cancer, and bone disorders when it is overstimulated by its ligand, CSF-1. 29293000 2018
CUI: C0011570
Disease: Mental Depression
Mental Depression
0.010 Biomarker disease BEFREE No correlation was found between eotaxin-2 and severity measures of FMS or depression.<i>Conclusion</i>. 29861805 2018
CUI: C0013537
Disease: Eclampsia
Eclampsia
0.010 AlteredExpression disease BEFREE Prognostic value of serum soluble FMS-like tyrosine kinase (sFlt-1) levels in pre-eclampsia and eclampsia; a prospective cohort study. 30032672 2018
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.010 Biomarker group BEFREE In vivo, neuroblastomas formed by subcutaneous co-injection of human neuroblastoma cells and human monocytes into immunodeficient NOD/SCID mice had fewer human CD14<sup>+</sup> and CD163<sup>+</sup> cells and mouse F4/80<sup>+</sup> cells after CSF-1R blockade. 29665011 2018