PLOD1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Ehlers Danlos syndrome with a likely monogenic cause

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Thoracic aortic aneurysm or dissection

  BIALLELIC, autosomal or pseudoautosomal

• Thoracic aortic aneurysm or dissection (GMS)

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Osteogenesis imperfecta

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Disease associations (Open Targets)

• Ehlers-Danlos syndrome, kyphoscoliotic type 1

  0.82

• Ehlers-Danlos syndrome, kyphoscoliotic type

  0.77

• Ehlers-Danlos syndrome, musculocontractural type

  0.57

• familial thoracic aortic aneurysm and aortic dissection

  0.55

• Ehlers-Danlos syndrome

  0.52

• kyphoscoliotic Ehlers-Danlos syndrome

  0.47

• Joint hypermobility

  0.43

• Rare disease with thoracic aortic aneurysm and aortic dissection

  0.42

• neurodegenerative disease

  0.41

• cryptorchidism

  0.36

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

Protein function (UniProt)