GAA

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Glycogen storage disease

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BIALLELIC, autosomal or pseudoautosomal

• Lysosomal storage disorder

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

+10 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Glycogen storage disease due to acid maltase deficiency

  0.88

• glycogen storage disease II

  0.88

• glycogen storage disease due to acid maltase deficiency, infantile onset

  0.68

• glycogen storage disease due to acid maltase deficiency, late-onset

  0.63

• disorder of glycogen metabolism

  0.62

• type 2 diabetes mellitus

  0.58

• Abnormality of the cardiovascular system

  0.54

• diabetes mellitus

  0.47

• Glycogen storage disease due to glycogenin deficiency

  0.39

• myopathy

  0.36

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

Protein function (UniProt)