CYB5R3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Rare anaemia

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Recessive hereditary methemoglobinemia type 1

  0.80

• Recessive hereditary methemoglobinemia type 2

  0.80

• methemoglobinemia due to deficiency of methemoglobin reductase

  0.73

• hereditary methemoglobinemia

  0.65

• central core myopathy

  0.43

• methemoglobinemia

  0.38

• Caffey disease

  0.33

• type 2 diabetes mellitus

  0.28

• hyperaldosteronism

  0.26

• musculoskeletal system disorder

  0.26

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

Protein function (UniProt)