CUBN

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Proteinuric renal disease

  BIALLELIC, autosomal or pseudoautosomal

• Rare anaemia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Unexplained kidney failure in young people

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Gräsbeck-Imerslund disease

  0.82

• proteinuria, chronic benign

  0.76

• Imerslund-Grasbeck syndrome

  0.67

• megaloblastic anemia

  0.64

• vitamin B deficiency

  0.54

• vitamin B12 deficiency

  0.53

• Proteinuria

  0.53

• hereditary disease

  0.51

• deficiency anemia

  0.50

• gout

  0.49

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

Protein function (UniProt)