DHRS3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• glaucoma

  0.32

• open-angle glaucoma

  0.29

• inherited hemoglobinopathy

  0.28

• placenta praevia

  0.25

• major salivary gland cancer

  0.24

• craniosynostosis

  0.13

• placental abruption

  0.11

• gastric cancer

  0.09

• neoplasm

  0.08

• Noonan syndrome

  0.06

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

Protein function (UniProt)