DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for primary ciliary dyskinesia 4

Primary ciliary dyskinesia 4 [DOID:0110614]

A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1.

Synonyms:  primary ciliary dyskinesia 4,  DOID:0110614,  CILD4,  primary ciliary dyskinesia 4 with or without situs inversus

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.