Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B
0.090 Biomarker disease BEFREE Serum levels of osteopontin, sclerostin, receptor activator of nuclear factor kappa-Β ligand (RANKL), osteoprotegerin, Dickkopf-related protein 1 (DKK-1), and soluble frizzled-related protein 1 (sFRP-1) were measured in 57 patients with Paget's disease of bone and 24 controls with primary osteoarthritis. 31384515 2019
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B
0.090 GeneticVariation disease BEFREE Mutations in TNFRSF11A, TNFRSF11B and VCP have been identified in rare syndromes with PDB-like features. 24988994 2014
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B
0.090 GeneticVariation disease BEFREE Because the chromosome 8 and 10 loci were next to the TNFRSF11B and OPTN genes, we extended the genetic screening to these two genes, but we failed to identify any causative mutation at both the genomic and transcription level, suggesting that a different genetic defect is associated with PDB and potentially giant cell tumor of bone in this pedigree. 22936311 2013
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B
0.090 GeneticVariation disease BEFREE Such conditions include familial expansile osteolysis, expansile skeletal hyperphosphatasia, and a familial form of early-onset Paget's disease of bone (PDB2), all from constitutive activation of RANK, and juvenile Paget's disease from OPG deficiency. 17284635 2007
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B
0.090 GeneticVariation disease LHGDN Although mutations in this gene have never been found in patients with typical Paget's disease of bone (PDB), there are indications that polymorphisms in TNFRSF11B might contribute to the risk of developing PDB. 17388729 2007
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B
0.090 GeneticVariation disease BEFREE Although mutations in this gene have never been found in patients with typical Paget's disease of bone (PDB), there are indications that polymorphisms in TNFRSF11B might contribute to the risk of developing PDB. 17388729 2007
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B
0.090 GeneticVariation disease BEFREE Inactivating mutations in the TNFRSF11B gene, which encodes osteoprotegerin, cause juvenile PDB, and TNFRSF11B polymorphisms seem to increase the risk of classical PDB. 17229006 2006
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B
0.090 Biomarker disease BEFREE In contrast to bone stromal cells isolated from normal controls, stromal cells isolated from morphologically normal bone in one patient with Paget's disease also stimulated osteoclast formation in this way; this osteoclastogenesis was inhibited by OPG. 16482498 2006
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B
0.090 GeneticVariation disease BEFREE In this study, we sought to determine whether polymorphisms of the TNFRSF11B gene contribute to the pathogenesis of classical PDB. 15312251 2004
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B
0.090 GeneticVariation disease BEFREE We performed mutation analysis in the RANK and OPG genes in 28 PDB patients to investigate whether mutations in these genes could be responsible for PDB. 11165949 2001