NOP10

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  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

• Pulmonary fibrosis familial

  BIALLELIC, autosomal or pseudoautosomal

• Childhood solid tumours

  BIALLELIC, autosomal or pseudoautosomal

• Childhood solid tumours cancer susceptibility

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenia - NOT Fanconi anaemia

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• dyskeratosis congenita, autosomal recessive 1

  0.68

• dyskeratosis congenita

  0.68

• neurodegenerative disease

  0.51

• acute myeloid leukemia with minimal differentiation

  0.46

• cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2

  0.45

• Hoyeraal-Hreidarsson syndrome

  0.42

• pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9

  0.39

• hereditary neoplastic syndrome

  0.12

• Inherited cancer-predisposing syndrome

  0.12

• non-small cell lung carcinoma

  0.08

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

Protein function (UniProt)