DISEASES

Disease-gene associations mined from literature

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Human genes for 46,XX sex reversal

46,XX sex reversal [DOID:0111760]

A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous.

Synonyms:  46,XX sex reversal,  46XX sex reversal,  DOID:0111760,  46,XX testicular disorder of sex development,  46,XX testicular DSD ...

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.