CSF2RA

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood interstitial lung disease

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Familial pulmonary fibrosis

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Pulmonary fibrosis familial

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Congenital pulmonary alveolar proteinosis

  0.80

• Intraalveolar phospholipid accumulation

  0.58

• pulmonary alveolar proteinosis

  0.53

• acute myeloid leukemia

  0.50

• hypersensitivity

  0.46

• asthma

  0.42

• autoimmune pulmonary alveolar proteinosis

  0.41

• neoplasm

  0.40

• neuroblastoma

  0.38

• hereditary pulmonary alveolar proteinosis

  0.38

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

Protein function (UniProt)

Diseases associated with CSF2RA

Curated MONDO disease pages that list CSF2RA among their top associated genes.

• neuroblastomaRare