HOXA13

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• CAKUT

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Differences in sex development

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Limb disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Radial dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• VACTERL-like phenotypes

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• hand-foot-genital syndrome

  0.82

• Guttmacher syndrome

  0.66

• polydactyly

  0.37

• endometrial endometrioid adenocarcinoma

  0.37

• gliomatosis cerebri

  0.37

• esophageal squamous cell carcinoma

  0.30

• urinary bladder carcinoma

  0.30

• esophageal adenocarcinoma

  0.29

• hypertensive disorder

  0.29

• hepatocellular carcinoma

  0.29

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

Protein function (UniProt)