DISEASES

Disease-gene associations mined from literature

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Human genes for primary ciliary dyskinesia 1

Primary ciliary dyskinesia 1 [DOID:0110594]

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.

Synonyms:  primary ciliary dyskinesia 1,  DOID:0110594,  CILD1,  primary ciliary dyskinesia 1 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.