DISEASES

Disease-gene associations mined from literature

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Human genes for primary ciliary dyskinesia 13

Primary ciliary dyskinesia 13 [DOID:0110618]

A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24.

Synonyms:  primary ciliary dyskinesia 13,  DOID:0110618,  CILD13,  primary ciliary dyskinesia 13 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.