Disease Term Disease ID Gene Symbol Classification References Source
Aphakia, congenital primary C1853230 FOXE3 Causal Pathogenic evidence from ClinVar 3550563, 11159941, 11980846, 16826526, 19708017, 21150893, 25504734, 27218149 ClinVar
PTCH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital primary aphakia 83461 FOXE3 Causal Pathogenic evidence from ClinVar - ClinVar