SMOC2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Amelogenesis imperfecta

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• dentin dysplasia type I

  0.57

• atypical dentin dysplasia due to SMOC2 deficiency

  0.47

• hypothyroidism

  0.46

• familial hemolytic anemia

  0.30

• urinary tract obstruction

  0.29

• COVID-19

  0.26

• severe acute respiratory syndrome

  0.26

• placenta praevia

  0.26

• stroke disorder

  0.25

• alcohol drinking

  0.25

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

Protein function (UniProt)