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DNAI1

Chr 9p13.3

dynein axonemal intermediate chain 1

Aliases:
DIC1, PCD, CILD1, oda6
MANE:
ENST00000242317.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Laterality disorders and isomerism

    BIALLELIC, autosomal or pseudoautosomal
  • Primary ciliary disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Respiratory ciliopathies including non-CF bronchiectasis

    BIALLELIC, autosomal or pseudoautosomal
  • Ductal plate malformation

    BIALLELIC, autosomal or pseudoautosomal
  • Familial pulmonary fibrosis

  • Non-CF bronchiectasis

  • Paediatric disorders - additional genes

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • primary ciliary dyskinesia

    0.75
  • Kartagener Syndrome

    0.70
  • ciliopathy

    0.62
  • bronchiectasis

    0.37
  • hereditary disease

    0.34
  • male infertility

    0.11
  • infertility disorder

    0.11
  • Congenital pulmonary alveolar proteinosis

    0.09
  • Heterotaxia

    0.08
  • chronic obstructive pulmonary disease

    0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dynein axonemal intermediate chain 1

Component of dynein, a family of motor proteins essential for movement along microtubules (By similarity). Required for structural and functional integrity of cilia (By similarity). Part of the dynein complex of respiratory cilia

Curated MONDO disease pages that list DNAI1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.