SLC34A3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Hypophosphataemia or rickets

  BIALLELIC, autosomal or pseudoautosomal

• Nephrocalcinosis or nephrolithiasis

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Osteogenesis imperfecta

• Renal tubulopathies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• hereditary hypophosphatemic rickets with hypercalciuria

  0.81

• hereditary disease

  0.47

• nephrolithiasis

  0.42

• urolithiasis

  0.38

• X-linked hypophosphatemia

  0.37

• hypophosphatemic nephrolithiasis/osteoporosis 1

  0.34

• ureterolithiasis

  0.33

• Hypercalciuria

  0.27

• bladder calculus

  0.22

• kidney disorder

  0.16

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

Protein function (UniProt)

Diseases associated with SLC34A3

Curated MONDO disease pages that list SLC34A3 among their top associated genes.

• urolithiasisRare