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 GENOMICS_ENGLAND Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment. 29382611 2018
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
Osteogenesis imperfecta type IV (disorder)
0.300 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
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 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 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: 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 GWASDB New sequence variants associated with bone mineral density. 19079262 2009
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