CDKN2A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult solid tumours cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult solid tumours for rare disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood solid tumours

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Familial melanoma

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial tumours of the nervous system

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Inherited pancreatic cancer

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Melanoma pertinent cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Pigmentary skin disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• melanoma, cutaneous malignant, susceptibility to, 2

  0.84

• familial atypical multiple mole melanoma syndrome

  0.81

• melanoma

  0.79

• cutaneous melanoma

  0.72

• melanoma and neural system tumor syndrome

  0.71

• familial melanoma

  0.68

• squamous cell lung carcinoma

  0.64

• head and neck squamous cell carcinoma

  0.64

• cancer

  0.62

• hepatocellular carcinoma

  0.61

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

Protein function (UniProt)

Diseases associated with CDKN2A

Curated MONDO disease pages that list CDKN2A among their top associated genes.

• neurodegenerative diseaseRare
• melanomaRare
• head and neck squamous cell carcinomaRare
• cutaneous melanomaRare
• gastric adenocarcinomaRare