DISEASES

Disease-gene associations mined from literature

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Human genes for immunodeficiency 10

Immunodeficiency 10 [DOID:0111970]

A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous or compound heterozygous mutation in STIM1 on chromosome 11p15.4.

Synonyms:  immunodeficiency 10,  DOID:0111970,  CID due to STIM1 deficiency,  combined immunodeficiency due to STIM1 deficiency,  IMD10 ...

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.