DISEASES

Disease-gene associations mined from literature

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Human genes for familial hyperinsulinemic hypoglycemia 6

Familial hyperinsulinemic hypoglycemia 6 [DOID:0070217]

A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3.

Synonyms:  familial hyperinsulinemic hypoglycemia 6,  DOID:0070217,  hereditary hyperinsulinemic hypoglycemia 6,  HI/HA syndrome,  HHF6 ...

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.