ACVRL1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bleeding and platelet disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Cerebral vascular malformations

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary haemorrhagic telangiectasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Inherited bleeding disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Pulmonary arterial hypertension

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Vascular skin disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Familial pulmonary fibrosis

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Disease associations (Open Targets)

• hereditary hemorrhagic telangiectasia

  0.83

• telangiectasia, hereditary hemorrhagic, type 2

  0.79

• pulmonary arterial hypertension

  0.61

• vascular disorder

  0.59

• capillary disorder

  0.56

• Abnormality of the cardiovascular system

  0.56

• capillary malformation

  0.55

• pulmonary hypertension, primary, 1

  0.53

• heritable pulmonary arterial hypertension

  0.50

• epistaxis

  0.49

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

Protein function (UniProt)