DISEASES

Disease-gene associations mined from literature

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Human genes for familial isolated hypoparathyroidism

Familial isolated hypoparathyroidism [DOID:0111387]

A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in GCM2 on chromosome 11p15.3.

Synonyms:  familial isolated hypoparathyroidism,  DOID:0111387,  hereditary isolated hypoparathyroidism,  familial isolated hypoparathyroidisms,  FIH

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.