Disease Term Disease ID Gene Symbol Classification References Source
STUVE-WIEDEMANN SYNDROME IL6ST Causal Disgenet
LIFR Causal HPO
HSPG2 Unknown Disgenet
STUVE-WIEDEMANN SYNDROME 1 LIFR Unknown ClinVar
STUVE-WIEDEMANN SYNDROME 2 IL6ST Causal ClinVar Disgenet HPO
CEP290 Unknown Disgenet
CIMIP2B Unknown Disgenet
RUSC2 Unknown Disgenet