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: C0005938
Disease: Bone Density
Bone Density 		0.100 GeneticVariation phenotype GWASCAT Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. 22504420 2012
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.100 GeneticVariation phenotype GWASDB Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. 22504420 2012
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
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		0.100 GeneticVariation phenotype GWASDB Meta-analysis of gene-based genome-wide association studies of bone mineral density in Chinese and European subjects. 21927923 2012
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.010 GeneticVariation group BEFREE Mutations of the Sp7 gene in humans are associated with craniofacial anomalies and osteogenesis imperfecta. 29405385 2018
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		0.010 GeneticVariation disease BEFREE Mutations of the Sp7 gene in humans are associated with craniofacial anomalies and osteogenesis imperfecta. 29405385 2018
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: C0005938
Disease: Bone Density
Bone Density 		0.100 GeneticVariation phenotype GWASCAT New sequence variants associated with bone mineral density. 19079262 2009
CUI: C0005938
Disease: Bone Density
Bone Density 		0.100 GeneticVariation phenotype GWASDB New sequence variants associated with bone mineral density. 19079262 2009
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		0.300 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
CUI: C3151433
Disease: OSTEOGENESIS IMPERFECTA, TYPE XII
OSTEOGENESIS IMPERFECTA, TYPE XII 		0.600 Biomarker disease GENOMICS_ENGLAND Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment. 29382611 2018
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: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 AlteredExpression group BEFREE The results revealed that proliferation, apoptosis and the mRNA expression levels of RUNX2 and SP7 in MDS-MSCs did not significantly change following treatment with decitabine compared with control MDS-MSCs. 31611955 2019
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: 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: 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: 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: 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: C0005938
Disease: Bone Density
Bone Density 		0.100 GeneticVariation phenotype GWASDB Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. 19801982 2009
CUI: C0005938
Disease: Bone Density
Bone Density 		0.100 GeneticVariation phenotype GWASCAT Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. 19801982 2009
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: 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