DISEASES

Disease-gene associations mined from literature

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Human genes for immunodeficiency 16

Immunodeficiency 16 [DOID:0111935]

A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in TNFRSF4 on chromosome 1p36.33.

Synonyms:  immunodeficiency 16,  DOID:0111935,  combined immunodeficiency due to OX40 deficiency,  combined immunodeficiency with childhood-onset Kaposi sarcoma,  combined immunodeficiency with impaired immunity to HHV-8 ...

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.