Disease: Irido-corneo-trabecular dysgenesis (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Irido-corneo-trabecular dysgenesis (disorder)
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
0.010 GeneticVariation BEFREE The p.Asn173His variant affects Helix 2 of the DNA-binding domain and was observed in two unrelated patients with Peters anomaly or aniridia; in both cases, one parent carried the same allele. 22815627 2012