SERPINH1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Osteogenesis imperfecta

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• osteogenesis imperfecta type 10

  0.71

• preterm premature rupture of the membranes

  0.56

• coronary artery disorder

  0.54

• myocardial infarction

  0.49

• osteogenesis imperfecta type 3

  0.46

• skeletal dysplasia

  0.46

• osteogenesis imperfecta, recessive

  0.46

• Abnormality of the skeletal system

  0.46

• heart disorder

  0.43

• neurodegenerative disease

  0.43

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

Protein function (UniProt)