Disease Term Disease ID Gene Symbol Classification References Source
GELEOPHYSIC DYSPLASIA FBN1 Causal CTD Disgenet Orphanet
ADAMTSL2 Unknown Disgenet Orphanet
LTBP3 Unknown Disgenet GWAS catalog Orphanet
GELEOPHYSIC DYSPLASIA 1 ADAMTSL2 Causal CTD ClinVar Disgenet HPO
GELEOPHYSIC DYSPLASIA 2 FBN1 Causal ClinVar Disgenet HPO
GELEOPHYSIC DYSPLASIA 3 LTBP3 Causal CTD ClinVar Disgenet HPO