rs1554985722, PAX6

N. diseases: 2
Disease: Microphthalmos ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
0.700 CausalMutation CLINVAR Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns. 29178648 2017