DISEASES

Disease-gene associations mined from literature

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Human genes for immunodeficiency 50

Immunodeficiency 50 [DOID:0112001]

A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12.

Synonyms:  immunodeficiency 50,  DOID:0112001,  CID due to Moesin deficiency,  combined immunodeficiency due to Moesin deficiency,  IMD50 ...

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.