DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal dominant pseudohypoaldosteronism type 1

Autosomal dominant pseudohypoaldosteronism type 1 [DOID:0060855]

A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31.

Synonyms:  autosomal dominant pseudohypoaldosteronism type 1,  DOID:0060855,  autosomal dominant PHA 1,  PHA1A

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.