DISEASES

Disease-gene associations mined from literature

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Literature associating SOX9 and 46,XX sex reversal

SOX9 [ENSP00000245479]

SRY (sex determining region Y)-box 9; Transcriptional regulator. Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with ZNF219 (By similarity). Plays a role in chondrocyte differentiation (By similarity). Important for normal skeletal development; SRY-boxes

Synonyms:  SOX9,  SOX9p,  hSOX9,  P48436,  U5XJZ4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.