DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for overhydrated hereditary stomatocytosis

Overhydrated hereditary stomatocytosis [DOID:0111562]

A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in RHAG on chromosome 6p12.3.

Synonyms:  overhydrated hereditary stomatocytosis,  DOID:0111562,  overhydrated familial stomatocytosis,  overhydrated hereditary stomatocytosises,  OHS ...

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.