FKBP14

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital myopathy

  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 (GMS)

  BIALLELIC, autosomal or pseudoautosomal

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

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Disease associations (Open Targets)

• Ehlers-Danlos syndrome, kyphoscoliotic type, 2

  0.76

• Abnormality of the cardiovascular system

  0.52

• Hypotonia

  0.36

• Thoracolumbar scoliosis

  0.33

• congenital muscular dystrophy

  0.33

• Pes valgus

  0.33

• Joint hypermobility

  0.33

• Ehlers-Danlos syndrome

  0.17

• gastric cancer

  0.08

• osteosarcoma

  0.08

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

Protein function (UniProt)