DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for nonsyndromic congenital nail disorder 4

Nonsyndromic congenital nail disorder 4 [DOID:0080082]

A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13.

Synonyms:  nonsyndromic congenital nail disorder 4,  DOID:0080082,  anonychia congenita,  HYPONYCHIA CONGENITA,  anonychia congenitas ...

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.