AIPL1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Glaucoma (developmental)

• Ophthalmological ciliopathies

• Primary ciliary disorders

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Disease associations (Open Targets)

• Leber congenital amaurosis 4

  0.78

• Leber congenital amaurosis

  0.77

• AIPL1-related retinopathy

  0.67

• Cone rod dystrophy

  0.57

• retinitis pigmentosa

  0.53

• Retinal dystrophy

  0.50

• cone-rod dystrophy

  0.46

• Rod-cone dystrophy

  0.46

• retinal disorder

  0.34

• cone-rod dystrophy 2

  0.28

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

Protein function (UniProt)

Diseases associated with AIPL1

Curated MONDO disease pages that list AIPL1 among their top associated genes.

• Leber congenital amaurosisRare