DISEASES

Disease-gene associations mined from literature

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Human genes for immunodeficiency with hyper-IgM type 4

Immunodeficiency with hyper-IgM type 4 [DOID:0060760]

A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process.

Synonyms:  immunodeficiency with hyper-IgM type 4,  DOID:0060760,  immunodeficiency with hyperIgM type 4,  HIGM4,  hyper-IgM syndrome type 4 ...

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.