DISEASES

Disease-gene associations mined from literature

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Human genes for dehydrated hereditary stomatocytosis 1

Dehydrated hereditary stomatocytosis 1 [DOID:0111576]

A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in PIEZO1 on chromosome 16q24.3.

Synonyms:  dehydrated hereditary stomatocytosis 1,  dehydrated familial stomatocytosis 1,  DOID:0111576,  dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema,  pseudohyperkalemia edinburgh ...

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.