GLIS3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital hypothyroidism

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Diabetes with additional phenotypes suggestive of a monogenic aetiology

  BIALLELIC, autosomal or pseudoautosomal

• Familial diabetes

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Neonatal diabetes

  BIALLELIC, autosomal or pseudoautosomal

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• neonatal diabetes mellitus with congenital hypothyroidism

  0.79

• hypothyroidism

  0.54

• type 2 diabetes mellitus

  0.52

• diabetes mellitus

  0.49

• osteoarthritis, hip

  0.47

• chronic obstructive pulmonary disease

  0.47

• type 1 diabetes mellitus

  0.46

• asthma

  0.45

• osteoarthritis, knee

  0.45

• Knee pain

  0.44

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

Protein function (UniProt)

Diseases associated with GLIS3

Curated MONDO disease pages that list GLIS3 among their top associated genes.

• gestational diabetesRare