ERCC4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult solid tumours cancer susceptibility

  BIALLELIC, autosomal or pseudoautosomal

• Childhood solid tumours

  BIALLELIC, autosomal or pseudoautosomal

• Childhood solid tumours cancer susceptibility

  BIALLELIC, autosomal or pseudoautosomal

• Confirmed Fanconi anaemia or Bloom syndrome

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• xeroderma pigmentosum group F

  0.82

• Fanconi anemia complementation group Q

  0.81

• xeroderma pigmentosum

  0.78

• Xeroderma pigmentosum complementation group F

  0.77

• xeroderma pigmentosum-Cockayne syndrome complex

  0.73

• XFE progeroid syndrome

  0.73

• Fanconi anemia

  0.71

• Cockayne syndrome

  0.65

• xeroderma pigmentosum, type F/Cockayne syndrome

  0.59

• acute myeloid leukemia

  0.53

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

Protein function (UniProt)