SOX9, SRY-box transcription factor 9, 6662

N. diseases: 466; N. variants: 25
Disease: Abnormality of the skeletal system ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.030 Biomarker disease BEFREE The association of balanced rearrangements with breakpoints near SOX9 [SRY (sex determining region Y)-box 9] with skeletal abnormalities has been ascribed to the presumptive altering of SOX9 expression by the direct disruption of regulatory elements, their separation from SOX9 or the effect of juxtaposed sequences. 23648064 2013
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.030 GeneticVariation disease BEFREE We have generated heterozygous Sox9 mutant mice that phenocopy most of the skeletal abnormalities of this syndrome. 11371614 2001
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.030 AlteredExpression disease BEFREE We speculate that in campomelic dysplasia a decrease in SOX9 activity would inhibit production of collagen II, and eventually other cartilage matrix proteins, leading to major skeletal anomalies. 9121483 1997