UNC13D

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Bleeding and platelet disorders

  BIALLELIC, autosomal or pseudoautosomal

• Haematological malignancies cancer susceptibility

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Familial hemophagocytic lymphohistiocytosis

  0.78

• autoinflammatory syndrome

  0.54

• hereditary hemophagocytic lymphohistiocytosis

  0.38

• neurodegenerative disease

  0.37

• cardiovascular disorder

  0.27

• coronary artery disorder

  0.22

• hereditary disease

  0.20

• response to statin

  0.17

• Hypercholesterolemia

  0.17

• metabolic disease

  0.12

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

Protein function (UniProt)