DISEASES

Disease-gene associations mined from literature

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Human genes for X-linked adrenal hypoplasia congenita

X-linked adrenal hypoplasia congenita [DOID:0080156]

An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene.

Synonyms:  X-linked adrenal hypoplasia congenita,  DOID:0080156,  Xlinked adrenal hypoplasia congenita,  X-linked adrenal hypoplasia congenitas,  congenital adrenal hypoplasia ...

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.