COG5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• COG5-congenital disorder of glycosylation

  0.81

• congenital disorder of glycosylation, type IIy

  0.56

• neurodegenerative disease

  0.53

• hereditary disease

  0.42

• congenital disorder of glycosylation

  0.37

• coronary artery disorder

  0.29

• portal hypertension

  0.26

• enteritis

  0.26

• urinary system disorder

  0.26

• smoking initiation

  0.22

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

Protein function (UniProt)