DNAAF3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• 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

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• primary ciliary dyskinesia

  0.79

• Rare familial disorder with hypertrophic cardiomyopathy

  0.30

• hypertrophic cardiomyopathy 4

  0.26

• Thrombocytopenia

  0.25

• dilated cardiomyopathy 2A

  0.16

• hypertrophic cardiomyopathy 7

  0.15

• cardiomyopathy, familial restrictive, 1

  0.15

• familial dilated cardiomyopathy

  0.15

• DDX41-related hematologic malignancy predisposition syndrome

  0.12

• Heterotaxia

  0.08

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

Protein function (UniProt)

Diseases associated with DNAAF3

Curated MONDO disease pages that list DNAAF3 among their top associated genes.

• primary ciliary dyskinesiaRare