SMOC1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Anophthalmia or microphthalmia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Limb disorders

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• microphthalmia with limb anomalies

  0.80

• atherosclerosis

  0.49

• Abnormality of the skeletal system

  0.49

• peripheral vascular disease

  0.48

• polydactyly

  0.46

• Intrahepatic cholestasis of pregnancy

  0.45

• atrial fibrillation

  0.41

• hereditary disease

  0.41

• hypertensive disorder

  0.34

• essential hypertension

  0.33

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

Protein function (UniProt)