SOX9, SRY-box transcription factor 9, 6662

N. diseases: 466; N. variants: 25
Disease: Cleft Palate ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.420 GeneticVariation disease BEFREE Clinical chromosome microarray analysis (CMA) revealed a maternally inherited ~623 kb microdeletion that is -725 kb upstream of 5' SOX9 at chromosome locus 17q24.3.Her mother had cleft palate. 23532965 2013
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.420 Biomarker disease GENOMICS_ENGLAND Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia. 12783851 2003
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.420 Biomarker disease BEFREE The Sox9(+/-) mice died perinatally with cleft palate, as well as hypoplasia and bending of many skeletal structures derived from cartilage precursors. 11371614 2001
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.420 Biomarker disease HPO