ANTXR2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Rare genetic inflammatory skin disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• hyaline fibromatosis syndrome

  0.80

• juvenile hyaline fibromatosis

  0.67

• anthrax infection

  0.57

• myopia

  0.40

• infantile systemic hyalinosis

  0.37

• COVID-19

  0.31

• male reproductive organ cancer

  0.31

• Progressive visual loss

  0.31

• primary angle-closure glaucoma

  0.30

• glaucoma

  0.30

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

Protein function (UniProt)