MYCN

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Limb disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Severe microcephaly

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• VACTERL-like phenotypes

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Non-syndromic familial congenital anorectal malformations

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• Feingold syndrome type 1

  0.82

• Feingold syndrome

  0.69

• megalencephaly-polydactyly syndrome

  0.68

• basal cell carcinoma

  0.56

• neurodegenerative disease

  0.53

• hereditary disease

  0.52

• prostate carcinoma

  0.46

• non-melanoma skin carcinoma

  0.39

• melanoma

  0.38

• skin basal cell carcinoma

  0.38

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

Protein function (UniProt)

Diseases associated with MYCN

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

• basal cell carcinomaRare