Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.330 GeneticVariation disease BEFREE Translocations and deletions involving the SOX9 5' regulatory region are rare causes of these disorders, as well as Pierre Robin sequence (PRS) and 46,XY gonadal dysgenesis. 26663529 2016
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.330 Biomarker disease BEFREE A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis. 22441105 2012
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.330 GermlineCausalMutation disease ORPHANET Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. 22051515 2011
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.330 Biomarker disease BEFREE Finally, none of 18 female patients with XY gonadal dysgenesis (Swyer syndrome) showed an altered SOX9 banding pattern in SSCP assays, providing evidence that SOX9 mutations do not usually result in XY sex reversal without skeletal malformations. 9002675 1997