HGD

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• alkaptonuria

  0.85

• complication

  0.28

• hemorrhage

  0.28

• nervous system disorder

  0.25

• hereditary disease

  0.19

• primary hyperoxaluria type 3

  0.08

• Barrett esophagus

  0.07

• pentosuria

  0.07

• isolated sedoheptulokinase deficiency

  0.07

• primary hyperoxaluria type 2

  0.06

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

Protein function (UniProt)