HYAL1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Lysosomal storage disorder

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hyperammonaemia

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Hyaluronidase deficiency

  0.74

• mucopolysaccharidosis type 9

  0.63

• mucopolysaccharidosis

  0.56

• schizophrenia

  0.19

• Abnormality of the skeletal system

  0.11

• breast carcinoma

  0.11

• neoplasm

  0.11

• breast cancer

  0.10

• idiopathic pulmonary fibrosis

  0.09

• colorectal carcinoma

  0.08

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

Protein function (UniProt)