SOST

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Osteopetrosis

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Osteogenesis imperfecta

Disease associations (Open Targets)

• sclerosteosis 1

  0.70

• craniodiaphyseal dysplasia

  0.65

• hyperostosis corticalis generalisata

  0.64

• osteoporosis

  0.64

• sclerosteosis

  0.61

• postmenopausal osteoporosis

  0.47

• bone fracture

  0.41

• myocardial infarction

  0.41

• osteogenesis imperfecta

  0.41

• bone disorder

  0.38

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

Protein function (UniProt)