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: 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: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026034
Disease: Microstomia
Microstomia 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.100 Biomarker disease HPO
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		0.100 Biomarker phenotype HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		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: 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: 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: 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: 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