DISEASES

Disease-gene associations mined from literature

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Human genes for severe congenital neutropenia 5

Severe congenital neutropenia 5 [DOID:0112132]

A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in VPS45 on chromosome 1q21.2.

Synonyms:  severe congenital neutropenia 5,  DOID:0112132,  SCN5,  VPS45 deficiency,  congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome ...

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.