SOX18

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Pigmentary skin disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Primary lymphoedema

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Vascular skin disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary haemorrhagic telangiectasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Hypotrichosis - lymphedema - telangiectasia

  0.79

• neurodegenerative disease

  0.56

• Glomerulonephritis - sparse hair - telangiectasis

  0.51

• Varicose veins

  0.32

• pulmonary embolism

  0.28

• vein disorder

  0.25

• hereditary disease

  0.19

• venous thromboembolism

  0.19

• lymphatic system disorder

  0.17

• septic shock

  0.16

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

Protein function (UniProt)