USP18

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intracerebral calcification disorders

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• White matter disorders and cerebral calcification - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Congenital intrauterine infection-like syndrome

  0.73

• pseudo-TORCH syndrome

  0.37

• atrial fibrillation

  0.36

• systemic lupus erythematosus

  0.30

• hereditary disease

  0.19

• melanoma

  0.16

• ovarian carcinoma

  0.16

• exocrine pancreatic carcinoma

  0.15

• neoplasm

  0.11

• lung carcinoma

  0.10

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

Protein function (UniProt)