ASPH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Structural eye disease

  BIALLELIC, autosomal or pseudoautosomal

• Thoracic aortic aneurysm or dissection (GMS)

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

Disease associations (Open Targets)

• facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

  0.77

• Abnormality of the skeletal system

  0.45

• malignant hyperthermia of anesthesia

  0.43

• exercise-induced malignant hyperthermia

  0.42

• alcohol drinking

  0.38

• COVID-19

  0.35

• inherited retinal dystrophy

  0.32

• Sjogren syndrome

  0.31

• injury

  0.31

• upper extremity fracture

  0.29

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

Protein function (UniProt)