ADAMTS18

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Corneal abnormalities

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Retinal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Microcornea-myopic chorioretinal atrophy-telecanthus syndrome

  0.76

• microcornea-myopic chorioretinal atrophy

  0.72

• Knobloch syndrome 2

  0.37

• glaucoma

  0.35

• asparaginase-induced acute pancreatitis

  0.34

• retinal disorder

  0.34

• diabetes mellitus

  0.32

• type 2 diabetes mellitus

  0.32

• spondylosis

  0.30

• acne

  0.28

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