DISEASES

Disease-gene associations mined from literature

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Human genes for congenital adrenal hyperplasia

Congenital adrenal hyperplasia [DOID:0050811]

A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.

Synonyms:  congenital adrenal hyperplasia,  congenital adrenal hyperplasias,  DOID:0050811,  adrenal hyperplasia 1,  congenital lipoid adrenal hyperplasia ...

Linkouts:  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.