DISEASES

Disease-gene associations mined from literature

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Human genes for nephronophthisis-like nephropathy 1

Nephronophthisis-like nephropathy 1 [DOID:0111117]

A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2.

Synonyms:  nephronophthisis-like nephropathy 1,  DOID:0111117,  nephronophthisislike nephropathy 1,  NPHPL1

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.