GALNT3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• Familial tumoral calcinosis

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Pigmentary skin disorders

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Rare genetic inflammatory skin disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome

  0.80

• familial tumoral calcinosis

  0.64

• type 2 diabetes mellitus

  0.41

• intelligence

  0.40

• hyperphosphatemia

  0.37

• osteoporosis

  0.33

• diabetes mellitus

  0.31

• alcohol drinking

  0.26

• autism spectrum disorder

  0.23

• attention deficit-hyperactivity disorder

  0.23

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

Protein function (UniProt)