HOGA1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Nephrocalcinosis or nephrolithiasis

  BIALLELIC, autosomal or pseudoautosomal

• Peroxisomal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Ductal plate malformation

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• primary hyperoxaluria type 3

  0.81

• primary hyperoxaluria

  0.51

• Hyperoxaluria

  0.37

• neurodegenerative disease

  0.28

• hereditary disease

  0.19

• placental abruption

  0.16

• aneurysm

  0.16

• Paraproteinemia

  0.16

• nonpapillary renal cell carcinoma

  0.08

• neoplasm

  0.06

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

Protein function (UniProt)