COG3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodegenerative disease

  0.53

• congenital disorder of glycosylation, type IIbb

  0.34

• rubella

  0.23

• early-onset non-syndromic cataract

  0.08

• Posterior polar cataract

  0.07

• early-onset zonular cataract

  0.07

• hyperinsulinism due to INSR deficiency

  0.07

• retinitis pigmentosa

  0.07

• Familial ocular anterior segment mesenchymal dysgenesis

  0.07

• posterior polymorphous corneal dystrophy

  0.07

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

Protein function (UniProt)