DISEASES

Disease-gene associations mined from literature

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Human genes for familial erythrocytosis 4

Familial erythrocytosis 4 [DOID:0080339]

A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21.

Synonyms:  familial erythrocytosis 4,  DOID:0080339,  hereditary erythrocytosis 4,  ECYT4

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.