FGF23

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Familial tumoral calcinosis

  BIALLELIC, autosomal or pseudoautosomal

• Hypophosphataemia or rickets

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Pigmentary skin disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Rare genetic inflammatory skin disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Nephrocalcinosis or nephrolithiasis

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Osteogenesis imperfecta

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Disease associations (Open Targets)

• autosomal dominant hypophosphatemic rickets

  0.76

• tumoral calcinosis, hyperphosphatemic, familial, 2

  0.73

• familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome

  0.62

• cancer

  0.61

• bone development disease

  0.60

• osteomalacia

  0.55

• hypophosphatemic rickets

  0.53

• hypophosphatemia

  0.52

• X-linked hypophosphatemia

  0.42

• X-linked dominant hypophosphatemic rickets

  0.39

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

Protein function (UniProt)