Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5595
Gene Symbol: MAPK3
MAPK3
0.020 AlteredExpression disease BEFREE Chronic recurrent multifocal osteomyelitis (CRMO) is characterized by reduced activation of protein kinases ERK1 and 2 in monocytes resulting in impaired IL-10 expression. 26404542 2015
Entrez Id: 219855
Gene Symbol: SLC37A2
SLC37A2
0.010 Biomarker disease BEFREE CMO is a clinical equivalent to an infantile cortical hyperostosis (Caffey disease), for which SLC37A2 is a new candidate gene. 27187611 2016
Entrez Id: 9050
Gene Symbol: PSTPIP2
PSTPIP2
0.040 GeneticVariation disease BEFREE Chronic recurrent multifocal osteomyelitis (CRMO) in humans can be modeled in <i>Pstpip2<sup>cmo</sup></i> mice, which carry a missense mutation in the proline-serine-threonine phosphatase-interacting protein 2 (<i>Pstpip2</i>) gene. 31719149 2020
Entrez Id: 54751
Gene Symbol: FBLIM1
FBLIM1
0.040 Biomarker disease BEFREE Filamin-binding LIM protein 1 (FBLIM1) is related to regulation of inflammatory responses, such as chronic recurrent multifocal osteomyelitis; however, the relevance of FBLIM1 in oral squamous cell carcinoma (OSCC) is unknown. 30129678 2018
Entrez Id: 3552
Gene Symbol: IL1A
IL1A
0.030 Biomarker disease BEFREE As <i>cmo</i> disease in mice, the experimental model analogous to human CRMO, is mediated specifically by interleukin (IL)-1β, and not by IL-1α, delineating the molecular pathways contributing to pathogenic IL-1β production is crucial to developing targeted therapies. 31719149 2020
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
0.030 Biomarker disease BEFREE As <i>cmo</i> disease in mice, the experimental model analogous to human CRMO, is mediated specifically by interleukin (IL)-1β, and not by IL-1α, delineating the molecular pathways contributing to pathogenic IL-1β production is crucial to developing targeted therapies. 31719149 2020
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
0.010 GeneticVariation disease BEFREE Association of chronic non-bacterial osteomyelitis with Crohn's disease but not with CARD15 gene variants. 19579029 2010
Entrez Id: 3586
Gene Symbol: IL10
IL10
0.030 AlteredExpression disease BEFREE Chronic non-bacterial osteomyelitis is associated with impaired Sp1 signaling, reduced IL10 promoter phosphorylation, and reduced myeloid IL-10 expression. 21925952 2011
Entrez Id: 55330
Gene Symbol: BLOC1S4
BLOC1S4
0.010 Biomarker disease BEFREE Chronic non-bacterial osteomyelitis CNO is an inflammatory disorder of the musculoskeletal system with unknown etiology. 22032624 2012
Entrez Id: 54751
Gene Symbol: FBLIM1
FBLIM1
0.040 GeneticVariation disease BEFREE Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO). 28686717 2019
Entrez Id: 1319
Gene Symbol: CORD1
CORD1
0.010 GeneticVariation disease BEFREE Cystoid macular oedema (CMO) is a rare feature of CORD and has not been described in CORD7. 27176872 2017
Entrez Id: 3552
Gene Symbol: IL1A
IL1A
0.030 Biomarker disease BEFREE Evidence implicating the IL-1 pathway in the pathogenesis of the Mendelian forms of CRMO is growing. 28361334 2017
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
0.030 Biomarker disease BEFREE Evidence implicating the IL-1 pathway in the pathogenesis of the Mendelian forms of CRMO is growing. 28361334 2017
Entrez Id: 5896
Gene Symbol: RAG1
RAG1
0.010 GeneticVariation disease BEFREE Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease. 24122031 2013
Entrez Id: 7486
Gene Symbol: WRN
WRN
0.010 AlteredExpression disease BEFREE Further study is needed to elucidate the precise role of retinal WRN protein expression in the development of CMO in those with Werner syndrome. 29705892 2019
Entrez Id: 7099
Gene Symbol: TLR4
TLR4
0.010 AlteredExpression disease BEFREE Here, we demonstrate that attenuated extracellular-signal regulated kinase (ERK)1 and 2 signaling in response to TLR4 activation results in failure to induce IL-10 expression in monocytes from CRMO patients. 22940633 2012
Entrez Id: 3586
Gene Symbol: IL10
IL10
0.030 AlteredExpression disease BEFREE Here, we investigated IL-10-related cytokine expression in CRMO monocytes, underlying molecular events, and effects on inflammatory responses. 26404542 2015
Entrez Id: 1375
Gene Symbol: CPT1B
CPT1B
0.010 Biomarker disease BEFREE Here, we show that mast cells accumulate in inflamed tissues from CMO mice and that mast cell protease Mcpt1 can be detected in the peripheral blood. 31416928 2019
Entrez Id: 9663
Gene Symbol: LPIN2
LPIN2
0.020 GeneticVariation disease BEFREE Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). 15994876 2005
Entrez Id: 90865
Gene Symbol: IL33
IL33
0.010 Biomarker disease BEFREE In bone marrow-derived mast cell cultures from CMO mice, cytokine production in response to the alarmin IL-33 was elevated compared with wild-type cultures. 31416928 2019
Entrez Id: 6352
Gene Symbol: CCL5
CCL5
0.010 Biomarker disease BEFREE Multi-component discriminant analysis delivered five biomarkers (IL-6, CCL11/eotaxin, CCL5/RANTES, collagen Iα, sIL-2R) for the diagnosis of CRMO. 29250517 2017
Entrez Id: 8792
Gene Symbol: TNFRSF11A
TNFRSF11A
0.010 GeneticVariation disease BEFREE Mutation screening in RANK and the genes PIGN and KIAA1468 led to detection of two variants (one in RANK and one in PIGN), which are in linkage disequilibrium with the rare D18S60 allele, but not independently associated with CRMO. 11973628 2002
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
0.010 GeneticVariation disease BEFREE Mutation screening in RANK and the genes PIGN and KIAA1468 led to detection of two variants (one in RANK and one in PIGN), which are in linkage disequilibrium with the rare D18S60 allele, but not independently associated with CRMO. 11973628 2002
Entrez Id: 57614
Gene Symbol: RELCH
RELCH
0.010 GeneticVariation disease BEFREE Mutation screening in RANK and the genes PIGN and KIAA1468 led to detection of two variants (one in RANK and one in PIGN), which are in linkage disequilibrium with the rare D18S60 allele, but not independently associated with CRMO. 11973628 2002
Entrez Id: 54751
Gene Symbol: FBLIM1
FBLIM1
0.040 GeneticVariation disease BEFREE Mutations in FBLIM1 were found in a consanguineous family with CRMO. 29912021 2018