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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
APLASIA CUTIS CONGENITA BMS1 Causal ClinVar, Disgenet, GWAS catalog, Orphanet
DLL4 Unknown Disgenet, GenCC, Orphanet
ITGB4 Unknown Disgenet, GWAS catalog, Orphanet
PLEC Unknown ClinGen, Disgenet, Orphanet
UBA2 Unknown Disgenet, Orphanet
APLASIA CUTIS CONGENITA, NONSYNDROMIC BMS1 Unknown — HPO
All5 Causal1 Unknown5