DISEASES

Disease-gene associations mined from literature

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Human genes for severe congenital neutropenia 6

Severe congenital neutropenia 6 [DOID:0112134]

A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in JAGN1 on chromosome 3p25.3.

Synonyms:  severe congenital neutropenia 6,  DOID:0112134,  autosomal recessive severe congenital neutropenia due to JAGN1 deficiency,  SCN6

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.