DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for immunodeficiency 14

Immunodeficiency 14 [DOID:0111936]

A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in PIK3CD on chromosome 1p36.22.

Synonyms:  immunodeficiency 14,  DOID:0111936,  activated PI3K-delta syndrome,  APDS,  IMD14 ...

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.