TBXAS1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bleeding and platelet disorders

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Inherited bleeding disorders

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• ghosal hematodiaphyseal dysplasia

  0.78

• platelet-type bleeding disorder 14

  0.55

• anemia (phenotype)

  0.37

• bone disorder

  0.37

• Recurrent thrombophlebitis

  0.37

• dry eye syndrome

  0.36

• Keratoconjunctivitis sicca

  0.35

• Precordial pain

  0.33

• tricuspid valve disorder

  0.33

• stroke disorder

  0.32

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

Protein function (UniProt)