MRPS23

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodegenerative disease

  0.50

• combined oxidative phosphorylation deficiency 46

  0.40

• tendon sheath disorder

  0.26

• liver disorder

  0.19

• gout

  0.14

• hereditary disease

  0.12

• neoplasm

  0.10

• breast cancer

  0.09

• breast carcinoma

  0.09

• cancer

  0.09

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