THRB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital hypothyroidism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hyperthyroidism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Retinal disorders

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• IUGR and IGF abnormalities

• Monogenic hearing loss

• Monogenic short stature

  Unknown

• Osteogenesis imperfecta

Disease associations (Open Targets)

• selective pituitary resistance to thyroid hormone

  0.78

• generalized resistance to thyroid hormone

  0.77

• thyroid hormone resistance, generalized, autosomal dominant

  0.72

• glycogen storage disease due to glycogen branching enzyme deficiency

  0.69

• thyroid hormone resistance, generalized, autosomal recessive

  0.69

• hypothyroidism

  0.61

• metabolic dysfunction-associated steatotic liver disease

  0.53

• differentiated thyroid carcinoma

  0.53

• hyperthyroidism

  0.52

• thyroid hormone resistance syndrome

  0.49

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

Protein function (UniProt)

Diseases associated with THRB

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

• hypothyroidismRare
• metabolic dysfunction-associated steatotic liver diseaseRare