COG7

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cholestasis

  BIALLELIC, autosomal or pseudoautosomal

• Congenital disorders of glycosylation

  BIALLELIC, 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

• Neonatal cholestasis

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• COG7-congenital disorder of glycosylation

  0.80

• neurodegenerative disease

  0.53

• congenital disorder of glycosylation

  0.37

• digestive system disorder

  0.25

• hereditary disease

  0.19

• Fuchs endothelial corneal dystrophy

  0.08

• posterior polymorphous corneal dystrophy

  0.08

• Peters anomaly

  0.08

• Familial ocular anterior segment mesenchymal dysgenesis

  0.07

• early-onset non-syndromic cataract

  0.07

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

Protein function (UniProt)