SFTPC

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood interstitial lung disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Familial pulmonary fibrosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Pulmonary fibrosis familial

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• Congenital pulmonary alveolar proteinosis

  0.71

• surfactant metabolism dysfunction, pulmonary, 2

  0.69

• chronic respiratory distress with surfactant metabolism deficiency

  0.63

• hereditary pulmonary alveolar proteinosis

  0.54

• interstitial lung disease

  0.47

• idiopathic pulmonary fibrosis

  0.39

• newborn respiratory distress syndrome

  0.39

• pulmonary alveolar proteinosis

  0.37

• hereditary disease

  0.27

• pulmonary fibrosis

  0.18

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

Protein function (UniProt)