DISEASES

Disease-gene associations mined from literature

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Human genes for immunodeficiency 36

Immunodeficiency 36 [DOID:0111949]

A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in PIK3R1 on chromosome 5q13.1.

Synonyms:  immunodeficiency 36,  DOID:0111949,  activated phosphoinositide 3-kinase delta syndrome 2,  IMD36,  activated phosphoinositide 3kinase delta syndrome 2

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.