DHCR24

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hydrocephalus

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• desmosterolosis

  0.82

• Non-immune hydrops fetalis

  0.43

• digestive system disorder

  0.25

• hereditary disease

  0.19

• schizophrenia

  0.11

• hepatocellular carcinoma

  0.10

• Alzheimer disease

  0.10

• breast cancer

  0.09

• urinary bladder cancer

  0.08

• urinary bladder carcinoma

  0.08

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

Protein function (UniProt)