PITX2, paired like homeodomain 2, 5308

N. diseases: 248; N. variants: 27
Disease: Eye Abnormalities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		0.020 GeneticVariation group BEFREE Mutations in PITX2 have been associated with autosomal-dominant Axenfeld-Rieger syndrome and non-syndromic eye abnormalities, but never been found to cause isolated oral anomalies. 29121437 2018
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		0.020 Biomarker group BEFREE RIEG belongs to the Axenfeld-Rieger group of anomalies, which includes Axenfeld anomaly and Rieger anomaly (or Rieger eye malformation), which display ocular features only. 11092457 2000