SMAD9

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Pulmonary arterial hypertension

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Cerebral vascular malformations

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Extreme early-onset hypertension

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Familial pulmonary fibrosis

• GI tract tumours

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• pulmonary hypertension, primary, 2

  0.69

• pulmonary arterial hypertension

  0.56

• heritable pulmonary arterial hypertension

  0.56

• idiopathic pulmonary arterial hypertension

  0.47

• colorectal cancer

  0.38

• lung cancer

  0.36

• Pulmonary arterial hypertension associated with congenital heart disease

  0.30

• benign chondrogenic neoplasm

  0.28

• benign colon neoplasm

  0.27

• colonic neoplasm

  0.27

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

Protein function (UniProt)