Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.420 GeneticVariation 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
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.420 Biomarker GENOMICS_ENGLAND Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia. 12783851

2003
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.420 Biomarker 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
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.420 Biomarker HPO