Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6850
Gene Symbol: SYK
SYK
0.010 Biomarker disease BEFREE We further show that SYK centrally mediates signaling upstream of caspase-1 and caspase-8 activation and principally up-regulates NF-κB and IL-1β signaling in <i>Pstpip2<sup>cmo</sup></i> mice and thereby induces <i>cmo.</i> These results provide a rationale for directly targeting SYK and its downstream signaling components in CRMO. 31719149 2020
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: 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: 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: 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: 6120
Gene Symbol: RPE
RPE
0.010 AlteredExpression disease BEFREE This study provides evidence that the OCT-derived VIT/RPE-relative intensity may be useful as a quantitative and objective marker of disease activity and treatment response in uveitis complicated by CMO. 27150826 2017
Entrez Id: 22999
Gene Symbol: RIMS1
RIMS1
0.010 GeneticVariation disease BEFREE We report a patient who was heterozygous for the RIM1 mutation with bilateral CMO and who manifested a retinitis pigmentosa phenotype. 27176872 2017
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: 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: 91179
Gene Symbol: SCARF2
SCARF2
0.010 GeneticVariation disease BEFREE Parallel developmental disorders in other species could provide complementary models for human rare diseases by uncovering new candidate genes, improving the understanding of the molecular mechanisms and opening possibilities for therapeutic trials.We performed various experiments, e.g. combined genome-wide association and next generation sequencing, to investigate the clinico-pathological features and genetic causes of three developmental syndromes in dogs, including craniomandibular osteopathy (CMO), a previously undescribed skeletal syndrome, and dental hypomineralization, for which we identified pathogenic variants in the canine SLC37A2 (truncating splicing enhancer variant), SCARF2 (truncating 2-bp deletion) and FAM20C (missense variant) genes, respectively. 27187611 2016
Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
0.010 GeneticVariation disease BEFREE Parallel developmental disorders in other species could provide complementary models for human rare diseases by uncovering new candidate genes, improving the understanding of the molecular mechanisms and opening possibilities for therapeutic trials.We performed various experiments, e.g. combined genome-wide association and next generation sequencing, to investigate the clinico-pathological features and genetic causes of three developmental syndromes in dogs, including craniomandibular osteopathy (CMO), a previously undescribed skeletal syndrome, and dental hypomineralization, for which we identified pathogenic variants in the canine SLC37A2 (truncating splicing enhancer variant), SCARF2 (truncating 2-bp deletion) and FAM20C (missense variant) genes, respectively. 27187611 2016
Entrez Id: 50604
Gene Symbol: IL20
IL20
0.010 AlteredExpression disease BEFREE We observed reduced anti-inflammatory IL-10 and IL-19 expression, and enhanced IL-20 expression in CRMO monocytes. 26404542 2015
Entrez Id: 27190
Gene Symbol: IL17B
IL17B
0.010 AlteredExpression disease BEFREE We observed reduced anti-inflammatory IL-10 and IL-19 expression, and enhanced IL-20 expression in CRMO monocytes. 26404542 2015
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: 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: 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: 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: 6452
Gene Symbol: SH3BP2
SH3BP2
0.010 Biomarker disease BEFREE The genes responsible for Majeed syndrome (LPIN2), murine chronic multifocal osteomyelitis (pstpip2), and cherubism (SH3BP2 and possibly PTPN11) have been identified. 17762617 2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.010 Biomarker disease BEFREE The genes responsible for Majeed syndrome (LPIN2), murine chronic multifocal osteomyelitis (pstpip2), and cherubism (SH3BP2 and possibly PTPN11) have been identified. 17762617 2007
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
0.010 Biomarker disease BEFREE The autoinflammatory diseases comprise both hereditary (Familial Mediterranean Fever, FMF; Mevalonate Kinase Deficiency, MKD; TNF Receptor Associated Periodic Syndrome, TRAPS; Cryopyrin Associated Periodic Syndrome, CAPS; Blau syndrome; Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne syndrome, PAPA; Chronic Recurrent Multifocal Osteomyelitis, CRMO) and multifactorial (Crohn's and Behçet's diseases) disorders. 16466630 2006
Entrez Id: 5069
Gene Symbol: PAPPA
PAPPA
0.010 Biomarker disease BEFREE The autoinflammatory diseases comprise both hereditary (Familial Mediterranean Fever, FMF; Mevalonate Kinase Deficiency, MKD; TNF Receptor Associated Periodic Syndrome, TRAPS; Cryopyrin Associated Periodic Syndrome, CAPS; Blau syndrome; Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne syndrome, PAPA; Chronic Recurrent Multifocal Osteomyelitis, CRMO) and multifactorial (Crohn's and Behçet's diseases) disorders. 16466630 2006
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: 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: 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: 834
Gene Symbol: CASP1
CASP1
0.020 Biomarker disease BEFREE We further show that SYK centrally mediates signaling upstream of caspase-1 and caspase-8 activation and principally up-regulates NF-κB and IL-1β signaling in <i>Pstpip2<sup>cmo</sup></i> mice and thereby induces <i>cmo.</i> These results provide a rationale for directly targeting SYK and its downstream signaling components in CRMO. 31719149 2020