DISEASES

Disease-gene associations mined from literature

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Human genes for severe congenital neutropenia 4

Severe congenital neutropenia 4 [DOID:0112136]

A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in G6PC3 on chromosome 17q21.31.

Synonyms:  severe congenital neutropenia 4,  DOID:0112136,  Dursun syndrome,  SCN4,  autosomal recessive severe congenital neutropenia due to G6PC3 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.