Gene Ontology annotation through association of InterPro records with GO terms

Gene Ontology annotation by the MGI curatorial staff, curated orthology

Use of the ND evidence code for Gene Ontology (GO) terms

Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

Annotation inferences using phylogenetic trees

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

Combined Automated Annotation using Multiple IEA Methods

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.

High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.

Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.

Axonemal structures reveal mechanoregulatory and disease mechanisms.