DISEASES

Disease-gene associations mined from literature

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Human genes for nephrotic syndrome type 1

Nephrotic syndrome type 1 [DOID:0080390]

A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13.

Synonyms:  nephrotic syndrome type 1,  DOID:0080390,  Finnish congenital nephrosis,  Finnish congenital nephrosises

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.