DOCK8

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Gastrointestinal epithelial barrier disorders

  BIALLELIC, autosomal or pseudoautosomal

• Haematological malignancies cancer susceptibility

  BIALLELIC, autosomal or pseudoautosomal

• Haematological malignancies for rare disease

  BIALLELIC, autosomal or pseudoautosomal

• Infantile enterocolitis & monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Rare genetic inflammatory skin disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• combined immunodeficiency due to DOCK8 deficiency

  0.81

• Autosomal recessive hyper-IgE syndrome

  0.71

• hyper-IgE syndrome

  0.64

• severe combined immunodeficiency

  0.59

• intellectual disability, autosomal dominant 2

  0.52

• squamous cell carcinoma

  0.47

• combined immunodeficiency

  0.47

• lymphoma

  0.46

• hereditary disease

  0.42

• immunodeficiency disease

  0.41

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

Protein function (UniProt)