RASA1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cerebral vascular malformations

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal hydrops

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary haemorrhagic telangiectasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Mosaic skin disorders - deep sequencing

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Primary lymphoedema

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Segmental overgrowth disorders - Deep sequencing

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Vascular skin disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

+3 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• capillary malformation-arteriovenous malformation 1

  0.84

• Capillary malformation - arteriovenous malformation

  0.71

• capillary malformation-arteriovenous malformation syndrome

  0.65

• angioosteohypertrophic syndrome

  0.63

• Abnormality of the cardiovascular system

  0.54

• vascular malformation

  0.49

• basal cell carcinoma

  0.45

• squamous cell lung carcinoma

  0.44

• neurodegenerative disease

  0.43

• arteriovenous hemangioma/malformation

  0.43

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

Protein function (UniProt)