HAAO

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• CAKUT

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic hearing loss

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Unexplained young onset end-stage renal disease - additional genes

  BIALLELIC, autosomal or pseudoautosomal

• VACTERL-like phenotypes

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• vertebral, cardiac, renal, and limb defects syndrome 1

  0.72

• congenital vertebral-cardiac-renal anomalies syndrome

  0.60

• hypertensive disorder

  0.43

• prostate carcinoma

  0.39

• hypospadias

  0.36

• benign prostatic hyperplasia

  0.34

• Increased blood pressure

  0.34

• cardiovascular disorder

  0.33

• cerebral small vessel disease

  0.29

• bone fracture

  0.28

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

Protein function (UniProt)