FANCE

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)

• Fanconi anemia complementation group E

  0.82

• Fanconi anemia

  0.80

• acute myeloid leukemia

  0.53

• myelodysplastic syndrome

  0.47

• Bone marrow hypocellularity

  0.46

• leukemia

  0.46

• prostate carcinoma

  0.37

• colorectal adenocarcinoma

  0.37

• cutaneous melanoma

  0.37

• head and neck cancer

  0.37

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

Protein function (UniProt)