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: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
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: 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 GWASCAT Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. 22504420 2012
CUI: C0005938
Disease: Bone Density
Bone Density 		0.100 GeneticVariation phenotype GWASDB New sequence variants associated with bone mineral density. 19079262 2009
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: 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: 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: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
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: 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: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.100 Biomarker disease HPO
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: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		0.100 Biomarker phenotype HPO
CUI: C4551680
Disease: Generalized osteoporosis
Generalized osteoporosis 		0.100 Biomarker disease HPO
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: C0239174
Disease: Late tooth eruption
Late tooth eruption 		0.100 Biomarker phenotype HPO
CUI: C1858085
Disease: Malar flattening
Malar flattening 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO