DISEASES

Disease-gene associations mined from literature

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Human genes for 46,XY sex reversal 2

46,XY sex reversal 2 [DOID:0111777]

A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of NR0B1 on chromosome Xp21.2.

Synonyms:  46,XY sex reversal 2,  46XY sex reversal 2,  DOID:0111777,  46XY sex reversal 2, dosage-sensitive,  46,XY sex reversal, DAX1-related ...

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.