FOXF1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Alveolar capillary dysplasia with misalignment of pulmonary veins

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood interstitial lung disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Non-syndromic familial congenital anorectal malformations

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Cerebral vascular malformations

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary haemorrhagic telangiectasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• alveolar capillary dysplasia with misalignment of pulmonary veins

  0.81

• Congenital alveolar capillary dysplasia

  0.74

• benign prostatic hyperplasia

  0.43

• anorectal malformation

  0.37

• degeneration of macula and posterior pole

  0.34

• ovarian dysfunction

  0.30

• cocaine use disorder

  0.30

• colorectal cancer

  0.29

• open-angle glaucoma

  0.28

• VACTERL/vater association

  0.27

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

Protein function (UniProt)