Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.100 GeneticVariation group BEFREE To date, a 1.5 Mb de novo deletion in the SOX9 upstream region has been identified in a single 46,XY patient with ACD and DSD. 19449405 2009
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.100 Biomarker group BEFREE Investigations of humans with disorders of sex development (DSDs) resulted in the discovery of many of the now-known mammalian sex-determining genes, including SRY, RSPO1, SOX9, NR5A1, WT1, NR0B1, and WNT4. 21129722 2010
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.100 AlteredExpression group BEFREE Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations. 21412441 2011
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.100 AlteredExpression group BEFREE It is proposed that this region contains a gonad specific SOX9 transcriptional enhancer(s), the gain or loss of which results in genomic imbalance sufficient to activate or inactivate SOX9 gonadal expression in a tissue specific manner, switch sex determination, and result in isolated DSD. 22051515 2011
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.100 GeneticVariation group BEFREE Heterozygous loss-of-function coding-sequence mutations of the transcription factor SOX9 cause campomelic dysplasia, a rare skeletal dysplasia with congenital bowing of long bones (campomelia), hypoplastic scapulae, a missing pair of ribs, pelvic, and vertebral malformations, clubbed feet, Pierre Robin sequence (PRS), facial dysmorphia, and disorders of sex development. 24115316 2013
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.100 Biomarker group BEFREE Translocations, deletions, and duplications within a ∼2 Mb region upstream of SOX9 can recapitulate the CD-DSD phenotype fully or partially, suggesting the existence of an unusually large cis-regulatory control region. 24934569 2014
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.100 AlteredExpression group BEFREE Key themes that emerged included aberrant regulation of SOX9 via the hTES promoter in 46,XY gonadal DSDs, the role of the MAPK pathway in normal and aberrant gonadal development, and the role of new technologies in identification of gonadal DSDs. 24758178 2014
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.100 Biomarker group BEFREE This duplication refines the minimal region associated with 46,XX-SRY negative DSD to a 40.7-41.9 kb element located ∼600 kb upstream of SOX9. 25900885 2015
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.100 GeneticVariation group BEFREE Duplications in the ~2 Mb desert region upstream of SOX9 at 17q24.3 may result in familial 46,XX disorders of sex development (DSD) without any effects on the XY background. 25351776 2015
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.100 Biomarker group BEFREE A previous study has implicated copy number variations (CNVs) of a 78 kb region 517-595 kb upstream of SOX9 in the aetiology of both 46,XY and 46,XX disorders of sex development (DSD). 25604083 2015
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.100 Biomarker group BEFREE Our observations are in agreement with earlier suggestions that a high number of copies at the CNVR upstream of SOX9 may be associated with this type of DSD. 27089505 2016
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.100 AlteredExpression group BEFREE Our study showed that the identified copy number variation region located upstream of the SOX9 gene contains potential regulatory sequences (long non-coding RNA and hfMAGI2) and led to the assumption that a multiplication of this element may alter expression of the SOX9 gene, triggering the DSD phenotype. 28094446 2017
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.100 Biomarker group BEFREE Our previous work involving the genomic analysis of isolated DSD patients revealed a 78kb minimal sex determining region (RevSex) far upstream of SOX9 that was duplicated in 46,XX and deleted in 46,XY DSDs. 27989796 2017
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.100 AlteredExpression group BEFREE Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer. 30067310 2018
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.100 Biomarker group BEFREE The purpose of the present study was to investigate whether ten unrelated SRY-negative individuals with this sex differentiation disorder presented a double dose of SOX9 as the cause of their disease. 29673731 2018
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.100 GeneticVariation group BEFREE These enhancers provide a hitherto missing link by which SRY activates SOX9 in humans, and establish SOX9 enhancer mutations as a significant cause of DSD. 30552336 2018
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.100 GeneticVariation group BEFREE Multiple cases of Disorders of Sex Development in human patients or sex reversal in mice and other vertebrates can be explained by mutations affecting upstream regulators of Sox9 expression, such as the product of the Y chromosome gene Sry that triggers testis differentiation. 30999977 2019
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
0.100 GeneticVariation group BEFREE A genetic background for this abnormality has been extensively sought, and the region harboring the SOX9 gene has often been considered key in canine DSD. 31220175 2019