PITX2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Anophthalmia or microphthalmia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Corneal abnormalities

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Glaucoma (developmental)

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• IUGR and IGF abnormalities

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Pituitary hormone deficiency

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Structural eye disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• Axenfeld-Rieger syndrome type 1

  0.82

• anterior segment dysgenesis 4

  0.79

• Axenfeld-Rieger syndrome

  0.71

• Rieger anomaly

  0.66

• ring dermoid of cornea

  0.65

• anterior segment dysgenesis

  0.55

• atrial fibrillation

  0.53

• Peters anomaly

  0.52

• neurodegenerative disease

  0.52

• appendicitis

  0.50

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

Protein function (UniProt)

Diseases associated with PITX2

Curated MONDO disease pages that list PITX2 among their top associated genes.

• Peters anomalyRare
• ischemic strokeRare