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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
AORTIC VALVE DISEASE 1 NOTCH1 Causal CTD, ClinVar, Disgenet, HPO
SMAD6 Causal — Disgenet
TBX20 Causal — Disgenet —
AORTIC VALVE DISEASE 2 SMAD6 Causal — CTD, ClinVar, Disgenet, GenCC, HPO
TBX5 Causal — Disgenet
AORTIC VALVE DISEASE 3 ROBO4 Causal ClinGen, ClinVar, Disgenet, GWAS catalog, HPO —
All81 Causal5 Unknown78