Disease: Aniridia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003076
Disease: Aniridia
Aniridia 		0.020 GeneticVariation disease BEFREE CYP1B1 mutation related congenital glaucoma can present with an extreme form of anterior segment dysgenesis that includes recalcitrant glaucoma, corneal opacification and aniridia. 24001018 2015
CUI: C0003076
Disease: Aniridia
Aniridia 		0.020 GeneticVariation disease BEFREE Homozygous or compound heterozygous CYP1B1 mutations were identified in 91% (61/67), including all 8 probands with ectopion uveae and partial aniridia. 21306220 2011