rs121907913, PAX6

N. diseases: 5
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 Second, affected members of a family with dominantly inherited anterior segment malformations, including Peters' anomaly are heterozygous for an R26G mutation in the PAX6 paired box. 8162071 1994