NHP2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood solid tumours cancer susceptibility

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenia - NOT Fanconi anaemia

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Haematological malignancies cancer susceptibility

  BIALLELIC, autosomal or pseudoautosomal

• Haematological malignancies for rare disease

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• dyskeratosis congenita

  0.75

• Hoyeraal-Hreidarsson syndrome

  0.46

• acute myeloid leukemia with minimal differentiation

  0.46

• benign chondrogenic neoplasm

  0.29

• Alzheimer disease

  0.20

• lysosomal storage disease

  0.19

• multiple sclerosis

  0.19

• Parkinson disease

  0.19

• neurodegenerative disease

  0.19

• dyskeratosis congenita, autosomal recessive 1

  0.19

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

Protein function (UniProt)