DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for interleukin-7 receptor alpha deficiency

Interleukin-7 receptor alpha deficiency [DOID:0060015]

A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.

Synonyms:  interleukin-7 receptor alpha deficiency,  DOID:0060015,  interleukin7 receptor alpha deficiency

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.