DISEASES

Disease-gene associations mined from literature

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Human genes for immunodeficiency with hyper IgM type 5

Immunodeficiency with hyper IgM type 5 [DOID:0060759]

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 that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1.

Synonyms:  immunodeficiency with hyper IgM type 5,  DOID:0060759,  HIGM5,  hyper-IgM syndrome 5,  hyper-IgM syndrome due to UNG deficiency ...

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.