Disease Term Disease ID Gene Symbol Classification References Source
USHER SYNDROME TYPE 2D WHRN Causal ClinGen ClinVar Disgenet
USHER SYNDROME TYPE 3 CLRN1 Causal ClinGen GenCC Orphanet
CEP78 Unknown GWAS catalog Orphanet
HARS1 Unknown ClinGen GWAS catalog Orphanet
USHER SYNDROME TYPE 3A CLRN1 Causal ClinVar Disgenet
USHER SYNDROME TYPE 3B HARS1 Unknown ClinVar Disgenet