ADAMTS19

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Familial non syndromic congenital heart disease

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric disorders - additional genes

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• cardiac valvular dysplasia 2

  0.65

• heart valve disorder

  0.46

• Abnormality of the skeletal system

  0.42

• carpal tunnel syndrome

  0.31

• Hydrocephalus

  0.31

• esophagitis

  0.30

• glaucoma

  0.29

• cardiac transplant

  0.26

• phototoxic dermatitis

  0.24

• ovarian dysfunction

  0.24

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