PIK3R1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Corneal abnormalities

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• COVID-19 research

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

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Diabetes with additional phenotypes suggestive of a monogenic aetiology

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Familial diabetes

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Insulin resistance (including lipodystrophy)

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• IUGR and IGF abnormalities

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

+11 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• SHORT syndrome

  0.82

• immunodeficiency 36 with lymphoproliferation

  0.76

• agammaglobulinemia 7, autosomal recessive

  0.74

• cancer

  0.63

• autosomal agammaglobulinemia

  0.63

• activated PI3K-delta syndrome

  0.59

• bone development disease

  0.56

• endometrial cancer

  0.56

• isolated agammaglobulinemia

  0.55

• neurodegenerative disease

  0.53

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

Protein function (UniProt)

Diseases associated with PIK3R1

Curated MONDO disease pages that list PIK3R1 among their top associated genes.

• glioblastomaRare