SLFN14

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bleeding and platelet disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Inherited bleeding disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Cytopenia - NOT Fanconi anaemia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• Rare hemorrhagic disorder due to a constitutional platelet anomaly

  0.73

• Thrombocytopenia

  0.46

• Abnormal bleeding

  0.44

• neurodegenerative disease

  0.42

• blood platelet disease

  0.37

• hereditary disease

  0.34

• liver disorder

  0.10

• hereditary spherocytosis

  0.07

• beta-thalassemia-X-linked thrombocytopenia syndrome

  0.07

• Beta-thalassemia - X-linked thrombocytopenia

  0.07

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

Protein function (UniProt)