CHST14

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Bleeding and platelet disorders

  BIALLELIC, autosomal or pseudoautosomal

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

• Congenital disorders of glycosylation

  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

• Inherited bleeding disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Ehlers-Danlos syndrome, musculocontractural type

  0.84

• Abnormality of the cardiovascular system

  0.47

• Ehlers-Danlos syndrome

  0.42

• gastric cancer

  0.08

• type 2 diabetes mellitus

  0.07

• acrodysostosis

  0.05

• Trichorhinophalangeal syndrome type 1 and 3

  0.05

• Leri-Weill dyschondrosteosis

  0.05

• Léri-Weill dyschondrosteosis

  0.05

• cleidocranial dysplasia 1

  0.05

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

Protein function (UniProt)