Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.130 AlteredExpression disease BEFREE We have shown a decreased SOX9-Phospho protein expression in the dysgenetic gonads of the patients with homozygous PPP2R3C variants suggesting impaired SOX9 signaling in the pathogenesis of gonadal dysgenesis. 30893644 2019
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.130 GeneticVariation disease BEFREE Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis. 20838034 2010
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.130 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
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.130 Biomarker disease HPO