APOA1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary systemic amyloidosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Periodic fever syndromes

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Undiagnosed metabolic disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary neuropathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Childhood onset dystonia, chorea or related movement disorder

• Corneal abnormalities

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• hypoalphalipoproteinemia, primary, 2

  0.76

• familial visceral amyloidosis

  0.72

• Familial renal amyloidosis

  0.72

• hypoalphalipoproteinemia, primary, 2, intermediate

  0.62

• apolipoprotein A-I deficiency

  0.61

• dengue disease

  0.58

• AL amyloidosis

  0.47

• Abnormality of the cardiovascular system

  0.39

• amyloidosis

  0.39

• Tangier disease

  0.38

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

Protein function (UniProt)

Diseases associated with APOA1

Curated MONDO disease pages that list APOA1 among their top associated genes.

• dengue diseaseRare