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: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.010 Biomarker disease BEFREE We created a 51-point ATFS, that consisted of three ambulation items adapted for ataxia telangiectasia in the frame of FMS (home, school, outdoors), five ADL items, and one schooling item. 31468510 2020
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.010 GeneticVariation disease BEFREE To address the role of these cells in disease pathogenesis, we depleted microglia from R6/2 mice, a rapidly progressing model of Huntington's disease marked by behavioural impairment, mutant huntingtin (mHTT) accumulation, and early death, through colony-stimulating factor 1 receptor inhibition (CSF1Ri) with pexidartinib (PLX3397) for the duration of disease. 31848580 2020
CUI: C0035328
Disease: Retinal Vein Occlusion
Retinal Vein Occlusion
0.010 Biomarker disease BEFREE To test this hypothesis, we depleted microglia by PLX5622 (a selective tyrosine kinase inhibitor that targets the colony-stimulating factor-1 receptor) in fractalkine receptor reporter mice (Cx3cr1<sup>gfp/+</sup> ) subjected to various regimens of PLX5622 treatment and experimental RVO. 31652020 2020
CUI: C0155877
Disease: Allergic asthma
Allergic asthma
0.010 Biomarker disease BEFREE CSF1R inhibition is a promising new target for the treatment of allergic asthma. 31385613 2020
Exudative age-related macular degeneration
0.010 Biomarker disease BEFREE Our results suggest that CSF-1R inhibition may be a novel therapeutic target in patients with neovascular age-related macular degeneration. 31783006 2020
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements
0.010 GeneticVariation phenotype BEFREE It also showed that involuntary movements and brainstem or cerebellar atrophy were negative predictors of a CSF1R-mutation-positive result. 31520500 2020
Cutaneous/peripheral T-cell lymphoma
0.010 AlteredExpression disease BEFREE We observed that CSF1R is aberrantly expressed in many T-cell lymphomas, including a significant number of peripheral and cutaneous T-cell lymphomas. 31636099 2020
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
0.010 GeneticVariation disease BEFREE It also showed that involuntary movements and brainstem or cerebellar atrophy were negative predictors of a CSF1R-mutation-positive result. 31520500 2020
CUI: C0002622
Disease: Amnesia
Amnesia
0.010 GeneticVariation disease 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: C0003864
Disease: Arthritis
Arthritis
0.010 Biomarker disease BEFREE CRPS and FMS had pressure hyperalgesia in the index arm relative to arthritis patients. 31408010 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.010 Biomarker disease BEFREE We examined transcriptional data from CD mucosa for evidence of CSF-1 pathway activation and tested JNJ-40346527 (PRV-6527), a small molecule inhibitor of CSF-1 receptor kinase (CSF-1R), for its ability to inhibit disease indices in murine colitis. 31710624 2019
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections
0.010 AlteredExpression group BEFREE We evidenced that deliberate QKI5 overexpression in the absence of HCMV infection context is able to decrease CSF-1R and RANK expression, leading to osteoclastogenesis inhibition. 31834954 2019
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.010 Biomarker disease BEFREE BMP7, CD55, CSF1R, INHBC and F5 are likely to take crucial roles in the pathogenesis of DN. 30988245 2019
CUI: C0012546
Disease: Diphtheria
Diphtheria
0.010 Biomarker disease BEFREE Both the administration of systemic diphtheria toxin or anti-CSF-1R blocking antibody result in highly efficient and reversible depletion of microglia population in the CNS, which can be easily assessed by flow cytometry. 31392688 2019
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia
0.010 Biomarker disease BEFREE This study aimed to identify relationships between sensory function and pain in 3 common pain conditions (arthritis, Complex Regional Pain Syndrome [CRPS] and fibromyalgia syndrome [FMS]) and pain-free participants. 31408010 2019
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease
0.010 Biomarker disease BEFREE Using multiple murine GVHD/GVL models including both MHC-mismatched and miHA-mismatched, we demonstrated that treatment with CD115+ MDSCs efficiently suppressed GVHD but did not significantly impair graft-versus-leukemia (GVL) activity, leading to 80 and 67% protection in treated mice in GVHD and GVL models, respectively. 30737483 2019
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.010 GeneticVariation disease BEFREE We confirmed an association of CSF1R rs17725712 and MAPK9 rs4147385 with inhibitor development in haemophilia A patients in North China. 31149782 2019
CUI: C0019618
Disease: Histiocytosis
Histiocytosis
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: C0019693
Disease: HIV Infections
HIV Infections
0.010 AlteredExpression group BEFREE Overexpression and activation of colony-stimulating factor 1 receptor in the SIV/macaque model of HIV infection and neuroHIV. 31033097 2019
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia
0.010 Biomarker phenotype BEFREE CRPS and FMS had pressure hyperalgesia in the index arm relative to arthritis patients. 31408010 2019
CUI: C0020453
Disease: Hyperesthesia
Hyperesthesia
0.010 Biomarker phenotype BEFREE Relative to pain-free participants, FMS displayed heat hyperesthesia in both arms and cold hyperesthesia in the contralateral arm. 31408010 2019
CUI: C0024530
Disease: Malaria
Malaria
0.010 Biomarker disease BEFREE We found that a subset of liver-infiltrating monocyte-derived CD11c<sup>+</sup> cells co-expressing F4/80, CD103, CD207, and CSF1R acquired parasites during the liver stage of malaria, but only after initial hepatocyte infection. 30905437 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
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: C0029453
Disease: Osteopenia
Osteopenia
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: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 GeneticVariation disease BEFREE Association between CSF1 and CSF1R Polymorphisms and Parkinson's Disease in Taiwan. 31554150 2019