SP7, Sp7 transcription factor, 121340

N. diseases: 39; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842138
Disease: Progressive hearing impairment
Progressive hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1853242
Disease: Midface retrusion
Midface retrusion 		0.100 Biomarker phenotype HPO
CUI: C1854301
Disease: Motor delay
Motor delay 		0.100 Biomarker phenotype HPO
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		0.100 Biomarker phenotype HPO
CUI: C1858085
Disease: Malar flattening
Malar flattening 		0.100 Biomarker disease HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C4551680
Disease: Generalized osteoporosis
Generalized osteoporosis 		0.100 Biomarker disease HPO
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.030 Biomarker disease BEFREE We used quantitative real-time polymerase chain reaction to evaluate the gene expression of MDM2, CXCR4, RANKL, RB1, and OSTERIX in 98 samples of osteosarcoma taken from 47 patients (74 metastases and 24 primary tumors) and 30 nonmalignant lung tissues surrounding osteosarcoma metastases. 23845465 2013
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.030 Biomarker disease BEFREE Transfection of the osx gene into the mouse osteosarcoma cells inhibited tumor cell growth in vitro and in vivo and significantly reduced tumor incidence, tumor volume, and lung metastasis following intratibial injection. 15734992 2005
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.030 Biomarker disease BEFREE Transfection of the osx gene into the mouse osteosarcoma cells inhibited tumor cell growth in vitro and in vivo and significantly reduced tumor incidence, tumor volume, and lung metastasis following intratibial injection. 15734992 2005
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.030 Biomarker disease BEFREE We used quantitative real-time polymerase chain reaction to evaluate the gene expression of MDM2, CXCR4, RANKL, RB1, and OSTERIX in 98 samples of osteosarcoma taken from 47 patients (74 metastases and 24 primary tumors) and 30 nonmalignant lung tissues surrounding osteosarcoma metastases. 23845465 2013
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.030 Biomarker disease BEFREE Transfection of the osx gene into the mouse osteosarcoma cells inhibited tumor cell growth in vitro and in vivo and significantly reduced tumor incidence, tumor volume, and lung metastasis following intratibial injection. 15734992 2005
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.030 Biomarker disease BEFREE We used quantitative real-time polymerase chain reaction to evaluate the gene expression of MDM2, CXCR4, RANKL, RB1, and OSTERIX in 98 samples of osteosarcoma taken from 47 patients (74 metastases and 24 primary tumors) and 30 nonmalignant lung tissues surrounding osteosarcoma metastases. 23845465 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Transfection of the osx gene into the mouse osteosarcoma cells inhibited tumor cell growth in vitro and in vivo and significantly reduced tumor incidence, tumor volume, and lung metastasis following intratibial injection. 15734992 2005
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Tumor-induced bone was reduced in trigenic mice (Tie2<sup>cre</sup>/Osx<sup>f/f</sup>/SCID) with endothelial-specific deletion of osteoblast cell-fate determinant OSX compared with bigenic mice (Osx<sup>f/f</sup>/SCID). 28586644 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE We used quantitative real-time polymerase chain reaction to evaluate the gene expression of MDM2, CXCR4, RANKL, RB1, and OSTERIX in 98 samples of osteosarcoma taken from 47 patients (74 metastases and 24 primary tumors) and 30 nonmalignant lung tissues surrounding osteosarcoma metastases. 23845465 2013
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
Secondary malignant neoplasm of lung 		0.010 Biomarker disease BEFREE Transfection of the osx gene into the mouse osteosarcoma cells inhibited tumor cell growth in vitro and in vivo and significantly reduced tumor incidence, tumor volume, and lung metastasis following intratibial injection. 15734992 2005
CUI: C0206638
Disease: Giant Cell Tumor of Bone
Giant Cell Tumor of Bone 		0.010 Biomarker disease BEFREE Expression of preosteoblast markers and Cbfa-1 and Osterix gene transcripts in stromal tumour cells of giant cell tumour of bone. 15003787 2004
CUI: C1290783
Disease: Peripheral ossifying fibroma
Peripheral ossifying fibroma 		0.010 Biomarker disease BEFREE The role of Osterix protein in the pathogenesis of peripheral ossifying fibroma. 28678972 2017
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 Biomarker group BEFREE We used quantitative real-time polymerase chain reaction to evaluate the gene expression of MDM2, CXCR4, RANKL, RB1, and OSTERIX in 98 samples of osteosarcoma taken from 47 patients (74 metastases and 24 primary tumors) and 30 nonmalignant lung tissues surrounding osteosarcoma metastases. 23845465 2013
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.030 AlteredExpression disease BEFREE Osteogenic regulators Runx2 and OSX, and the late marker osteopontin (OPN) expressed at low levels in most OS lines, indicating that most OS cells fail to undergo terminal differentiation. 18838962 2008
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.030 AlteredExpression disease BEFREE Osteogenic regulators Runx2 and OSX, and the late marker osteopontin (OPN) expressed at low levels in most OS lines, indicating that most OS cells fail to undergo terminal differentiation. 18838962 2008
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.030 AlteredExpression disease BEFREE Osteogenic regulators Runx2 and OSX, and the late marker osteopontin (OPN) expressed at low levels in most OS lines, indicating that most OS cells fail to undergo terminal differentiation. 18838962 2008
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		0.010 AlteredExpression group LHGDN Negative regulation of the osteoblast function in multiple myeloma through the repressor gene E4BP4 activated by malignant plasma cells. 18829486 2008
CUI: C0028259
Disease: Nodule
Nodule 		0.010 AlteredExpression phenotype BEFREE Interestingly, rapamycin in rapamycin plus lipopolysaccharide (LPS)‑treated BMSCs significantly increased the gene expression levels of Sp7 transcription factor, runt related transcription factor 2, alkaline phosphatase (ALP) and collagen I (Col I), ALP activity, and calcium nodule at different time points in vitro, indicating that osteoblast differentiation occurs by rapamycin when BMSCs are exposed to LPS simultaneously. 28990080 2017