PITX2, paired like homeodomain 2, 5308

N. diseases: 248; N. variants: 27
Disease: Axenfeld anomaly (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
Axenfeld anomaly (disorder) 		0.330 GermlineCausalMutation disease ORPHANET Genomics and anterior segment dysgenesis: a review. 24433355 2014
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
Axenfeld anomaly (disorder) 		0.330 GeneticVariation disease BEFREE Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation. 21617748 2011
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
Axenfeld anomaly (disorder) 		0.330 GermlineCausalMutation disease ORPHANET Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. 19513095 2009
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
Axenfeld anomaly (disorder) 		0.330 GeneticVariation disease BEFREE A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy. 16876867 2006
CUI: C0266548
Disease: Axenfeld anomaly (disorder)
Axenfeld anomaly (disorder) 		0.330 Biomarker disease 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