DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal recessive pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 [DOID:0060854]

A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G.

Synonyms:  autosomal recessive pseudohypoaldosteronism type 1,  DOID:0060854,  autosomal recessive PHA 1,  PHA1B

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.