DISEASES

Disease-gene associations mined from literature

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Human genes for severe congenital neutropenia 7

Severe congenital neutropenia 7 [DOID:0112129]

A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in CSF3R on chromosome 1p34.3.

Synonyms:  severe congenital neutropenia 7,  DOID:0112129,  SCN7,  autosomal recessive severe congenital neutropenia due to CSF3R 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.