TGFB1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Osteopetrosis

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• Camurati-Engelmann disease

  0.80

• inflammatory bowel disease, immunodeficiency, and encephalopathy

  0.69

• myelodysplastic syndrome

  0.58

• anemia

  0.55

• cancer

  0.53

• anemia (phenotype)

  0.50

• Beta-thalassemia

  0.48

• Encephalopathy

  0.46

• IL10-related early-onset inflammatory bowel disease

  0.45

• cystic fibrosis

  0.45

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

Protein function (UniProt)