ARMC9

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Neurological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Ophthalmological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Unexplained young onset end-stage renal disease - additional genes

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Joubert syndrome

  0.77

• Joubert syndrome 30

  0.76

• Intellectual disability

  0.37

• Vertigo

  0.34

• Dandy-Walker syndrome

  0.32

• inner ear disorder

  0.22

• scoliosis

  0.22

• skin disorder

  0.22

• muscular disease

  0.21

• hereditary disease

  0.19

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

Protein function (UniProt)

Diseases associated with ARMC9

Curated MONDO disease pages that list ARMC9 among their top associated genes.

• Joubert syndromeRare