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: C0026034
Disease: Microstomia
Microstomia 		0.100 Biomarker disease 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: 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: 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: 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: 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: 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: 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 CTD_human
CUI: C3151433
Disease: OSTEOGENESIS IMPERFECTA, TYPE XII
OSTEOGENESIS IMPERFECTA, TYPE XII 		0.600 CausalMutation disease CLINVAR
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: 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: 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: 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: C1842138
Disease: Progressive hearing impairment
Progressive hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		0.100 Biomarker phenotype HPO
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
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