MAX

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

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Inherited phaeochromocytoma and paraganglioma

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Inherited phaeochromocytoma and paraganglioma excluding NF1

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Multiple endocrine tumours

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Neuroendocrine cancer pertinent cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• pheochromocytoma

  0.81

• hereditary pheochromocytoma-paraganglioma

  0.74

• polydactyly-macrocephaly syndrome

  0.62

• hereditary neoplastic syndrome

  0.55

• Inherited cancer-predisposing syndrome

  0.55

• plasma cell myeloma

  0.51

• neurodegenerative disease

  0.51

• endometrial cancer

  0.41

• colon adenocarcinoma

  0.37

• breast ductal adenocarcinoma

  0.37

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

Protein function (UniProt)