Disease Term Disease ID Gene Symbol Classification References Source
PENDRED SYNDROME KCNJ10 Causal CTD ClinVar GWAS catalog HPO Orphanet
SLC26A4 Causal CTD ClinGen ClinVar GenCC HPO Orphanet
FOXI1 Unknown CTD ClinVar Disgenet HPO Orphanet
PENDREDS SYNDROME CLDN9 Unknown Disgenet
DIAPH1 Unknown Disgenet
FOXI1 Unknown Disgenet
KCNJ10 Unknown Disgenet
MYO7A Unknown Disgenet
OTOF Unknown Disgenet
SLC26A4 Unknown Disgenet