Disease Term Disease ID Gene Symbol Classification References Source
ANIRIDIA ELP4 Unknown CTD Disgenet
EPHA2 Unknown Disgenet
FOXC1 Unknown Disgenet GWAS catalog
FOXD3 Unknown ClinGen Disgenet
PAX6 Unknown CTD Disgenet
PITX2 Unknown Disgenet GWAS catalog
SOX2 Unknown Disgenet
TRIM44 Unknown CTD Disgenet
WT1 Unknown CTD Disgenet
ANIRIDIA 1 ELP4 Causal GWAS catalog
PAX6 Causal CTD ClinVar HPO
WT1 Unknown ClinVar HPO
ANIRIDIA 2 ELP4 Unknown ClinVar GWAS catalog HPO
ANIRIDIA 3 TRIM44 Unknown ClinGen ClinVar Disgenet HPO
ANIRIDIA TYPE 1 ELP4 Unknown Disgenet
FOXC1 Unknown Disgenet
PAX6 Unknown Disgenet
TRIM44 Unknown Disgenet
WT1 Unknown Disgenet
ANIRIDIA TYPE 2 ELP4 Unknown Disgenet