DHODH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Deafness and congenital structural abnormalities

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  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

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• postaxial acrofacial dysostosis

  0.83

• rheumatoid arthritis

  0.60

• multiple sclerosis

  0.59

• psoriatic arthritis

  0.52

• relapsing-remitting multiple sclerosis

  0.48

• Arthritis

  0.37

• familial hyperlipidemia

  0.37

• COVID-19

  0.34

• coronary artery disorder

  0.33

• glioblastoma

  0.28

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

Protein function (UniProt)