DISEASES

Disease-gene associations mined from literature

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Human genes for familial hypocalciuric hypercalcemia 1

Familial hypocalciuric hypercalcemia 1 [DOID:0060700]

A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.

Synonyms:  familial hypocalciuric hypercalcemia 1,  DOID:0060700,  hereditary hypocalciuric hypercalcemia 1,  familial benign hypercalcemia 1,  familial hypocalciuric hypercalcemia type I ...

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.