MRPS14

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• 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)

• combined oxidative phosphorylation deficiency

  0.44

• neurodegenerative disease

  0.36

• hypothyroidism

  0.26

• asthma

  0.24

• drug allergy

  0.24

• keratoconus

  0.14

• esophageal disorder

  0.11

• vein disorder

  0.11

• lymphatic system disorder

  0.11

• Abnormality of the skeletal system

  0.08

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