COG6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital disorders of glycosylation

  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

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• COG6-congenital disorder of glycosylation

  0.79

• hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

  0.74

• neurodegenerative disease

  0.55

• hereditary disease

  0.45

• uterine corpus leiomyoma

  0.44

• Uterine leiomyoma

  0.44

• rheumatoid arthritis

  0.40

• asthma

  0.37

• thyroiditis

  0.35

• autoimmune disease

  0.35

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

Protein function (UniProt)