DISEASES

Disease-gene associations mined from literature

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Human genes for immunodeficiency 25

Immunodeficiency 25 [DOID:0111942]

A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in CD247 on chromosome 1q24.2.

Synonyms:  immunodeficiency 25,  DOID:0111942,  IMD25,  immunodeficiency due to defect in CD3-zeta,  immunodeficiency due to defect in CD3zeta

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.