OBSL1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• IUGR and IGF abnormalities

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic short stature

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Osteogenesis imperfecta

Disease associations (Open Targets)

• 3M syndrome

  0.78

• 3-M syndrome

  0.46

• Abnormality of the skeletal system

  0.40

• Short stature

  0.27

• type 2 diabetes mellitus

  0.26

• diabetes mellitus

  0.26

• hereditary disease

  0.19

• central nervous system cancer

  0.05

• cholelithiasis

  0.05

• sialolithiasis

  0.05

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

Protein function (UniProt)