THBS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Ehlers Danlos syndrome with a likely monogenic cause

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Thoracic aortic aneurysm or dissection (GMS)

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• Abnormality of the skeletal system

  0.53

• Hernia

  0.45

• intervertebral disk degenerative disorder

  0.38

• Ehlers-Danlos syndrome

  0.37

• Ehlers-Danlos syndrome, classic-like, 3

  0.37

• anorectal malformation

  0.35

• Varicose veins

  0.34

• placental retention

  0.32

• aneurysm

  0.31

• aortic aneurysm

  0.31

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

Protein function (UniProt)