DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for nephrotic syndrome type 3

Nephrotic syndrome type 3 [DOID:0080382]

A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23.

Synonyms:  nephrotic syndrome type 3,  DOID:0080382,  early onset nephrotic syndrome type 3

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.