SFTPA1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood interstitial lung disease

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

• Pulmonary fibrosis familial

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

• Familial pulmonary fibrosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• interstitial lung disease 1

  0.65

• interstitial lung disease

  0.63

• neurodegenerative disease

  0.28

• respiratory distress syndrome in premature infants

  0.19

• idiopathic pulmonary fibrosis

  0.15

• proximal 16p11.2 microdeletion syndrome

  0.12

• infection

  0.11

• Congenital pulmonary alveolar proteinosis

  0.10

• cystic fibrosis

  0.10

• newborn respiratory distress syndrome

  0.09

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

Protein function (UniProt)