DISEASES

Disease-gene associations mined from literature

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Human genes for immunodeficiency 13

Immunodeficiency 13 [DOID:0111987]

A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in UNC119 on chromosome 17q11.2.

Synonyms:  immunodeficiency 13,  DOID:0111987,  ICL,  IMD13,  idiopathic CD4 lymphopenia

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.