FANCA

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 A

  0.85

• Fanconi anemia

  0.82

• acute myeloid leukemia

  0.54

• myelodysplastic syndrome

  0.48

• Abnormality of skin pigmentation

  0.47

• leukemia

  0.47

• hereditary disease

  0.45

• Abnormality of blood and blood-forming tissues

  0.41

• head and neck squamous cell carcinoma

  0.39

• prostate carcinoma

  0.38

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

Protein function (UniProt)

Diseases associated with FANCA

Curated MONDO disease pages that list FANCA among their top associated genes.

• leukemiaRare