DISEASES

Disease-gene associations mined from literature

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Human genes for primary ciliary dyskinesia 10

Primary ciliary dyskinesia 10 [DOID:0110612]

A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21.

Synonyms:  primary ciliary dyskinesia 10,  DOID:0110612,  CILD10,  primary ciliary dyskinesia 10 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.