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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
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
All3 Causal3 Unknown2