DGUOK

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• Ductal plate malformation

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial DNA maintenance disorder

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial liver disease, including transient infantile liver failure

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

  0.80

• progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4

  0.78

• Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

  0.76

• portal hypertension

  0.59

• portal hypertension, noncirrhotic

  0.52

• mitochondrial DNA depletion syndrome

  0.51

• hereditary disease

  0.51

• mitochondrial disease

  0.41

• cholestasis

  0.37

• inborn mitochondrial metabolism disorder

  0.37

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

Protein function (UniProt)