ENO3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• Glycogen storage disease

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Rhabdomyolysis and metabolic muscle disorders

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Hyperammonaemia

• Ketotic hypoglycaemia

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• glycogen storage disease due to muscle beta-enolase deficiency

  0.71

• neurodegenerative disease

  0.48

• Exercise-induced rhabdomyolysis

  0.37

• Thrombocytopenia

  0.26

• hereditary disease

  0.19

• amyotrophic lateral sclerosis

  0.15

• kidney disorder

  0.13

• hepatocellular carcinoma

  0.08

• metabolic dysfunction-associated steatohepatitis

  0.05

• malignant colon neoplasm

  0.04

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

Protein function (UniProt)