Disease Term Disease ID Gene Symbol Classification References Source
BRUCK SYNDROME FKBP10 Causal Disgenet GWAS catalog Orphanet
PLOD2 Unknown Disgenet GWAS catalog Orphanet
BRUCK SYNDROME 1 COL1A2 Causal Disgenet
FKBP10 Causal CTD ClinVar Disgenet HPO
BRUCK SYNDROME 2 PLOD2 Causal CTD ClinVar Disgenet GWAS catalog HPO