THBD

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bleeding and platelet disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• COVID-19 research

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Inherited bleeding disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Thrombophilia with a likely monogenic cause

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Atypical haemolytic uraemic syndrome

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Primary immunodeficiency or monogenic inflammatory bowel disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• atypical hemolytic-uremic syndrome with thrombomodulin anomaly

  0.73

• thrombomodulin-related bleeding disorder

  0.72

• Venous thrombosis

  0.52

• atypical hemolytic-uremic syndrome

  0.42

• Abnormal bleeding

  0.39

• complement deficiency

  0.37

• Thrombocytopenia

  0.35

• venous thromboembolism

  0.32

• neurodegenerative disease

  0.31

• Abnormal thrombosis

  0.27

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

Protein function (UniProt)