EHBP1L1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Fetal hydrops

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Non-immune hydrops fetalis

  0.56

• angina pectoris

  0.37

• coronary artery disorder

  0.34

• myocardial ischemia

  0.31

• migraine disorder

  0.26

• coronary atherosclerosis

  0.17

• benign prostatic hyperplasia

  0.14

• osteoarthritis, hip

  0.12

• musculoskeletal system disorder

  0.11

• type 2 diabetes mellitus

  0.11

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

Protein function (UniProt)