SOX9, SRY-box transcription factor 9, 6662

N. diseases: 466; N. variants: 25
Disease: Ovotesticular Disorders of Sex Development ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748895
Disease: Ovotesticular Disorders of Sex Development
Ovotesticular Disorders of Sex Development 		0.350 GeneticVariation disease BEFREE A duplication upstream of SOX9 associated with SRY negative 46,XX ovotesticular disorder of sex development: A case report 31476840 2019
CUI: C2748895
Disease: Ovotesticular Disorders of Sex Development
Ovotesticular Disorders of Sex Development 		0.350 Biomarker disease BEFREE This study is thought to be the first report regarding a duplication of SOX9 that is associated with the presence of 46,XX ovotesticular DSD, encompassing at least -581 kb upstream, and the almost entire coding region of the gene. 29673731 2018
CUI: C2748895
Disease: Ovotesticular Disorders of Sex Development
Ovotesticular Disorders of Sex Development 		0.350 Biomarker disease BEFREE A duplication upstream of SOX9 was not positively correlated with the SRY‑negative 46,XX testicular disorder of sex development: A case report and literature review. 26260363 2015
CUI: C2748895
Disease: Ovotesticular Disorders of Sex Development
Ovotesticular Disorders of Sex Development 		0.350 Biomarker disease BEFREE We amplified microsatellite markers in the region of SOX9 from a cohort of 30 subjects with either 46,XX testicular or 46,XX ovotesticular DSD to detect SOX9 duplications. 22570960 2012
CUI: C2748895
Disease: Ovotesticular Disorders of Sex Development
Ovotesticular Disorders of Sex Development 		0.350 GermlineCausalMutation disease ORPHANET Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. 22051515 2011
CUI: C2748895
Disease: Ovotesticular Disorders of Sex Development
Ovotesticular Disorders of Sex Development 		0.350 Biomarker disease BEFREE De novo 12;17 translocation upstream of SOX9 resulting in 46,XX testicular disorder of sex development. 20082466 2010