ALG9

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• Cystic kidney disease

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• ALG9-congenital disorder of glycosylation

  0.82

• ALG9-associated autosomal dominant polycystic kidney disease

  0.61

• autosomal dominant polycystic kidney disease

  0.58

• congenital disorder of glycosylation type I

  0.46

• neurodegenerative disease

  0.46

• autosomal dominant polycystic liver disease

  0.38

• Isolated polycystic liver disease

  0.38

• congenital disorder of glycosylation

  0.37

• Global developmental delay

  0.37

• cystic kidney disease

  0.37

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

Protein function (UniProt)