DISEASES

Disease-gene associations mined from literature

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Human genes for immunodeficiency 65

Immunodeficiency 65 [DOID:0111978]

A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in IRF9 on chromosome 14q12.

Synonyms:  immunodeficiency 65,  DOID:0111978,  IMD65,  immunodeficiency 65, susceptibility to viral infections,  immunodeficiency 65 susceptibility to viral infections ...

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.