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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
ELLIS VAN CREVELD SYNDROME
289
DYNC2LI1 Unknown Orphanet
EVC Unknown Orphanet
EVC2 Unknown Orphanet
GLI1 Unknown Orphanet
PRKACA Unknown Orphanet
Endocrine resistance MAPK signaling pathway Ras signaling pathway +95 more
PRKACB Unknown Orphanet
Endocrine resistance MAPK signaling pathway Ras signaling pathway +86 more
ELLIS-VAN CREVELD SYNDROME EVC Causal CTD, ClinVar, Disgenet, GenCC, HPO, ClinGen
EVC2 Causal CTD, ClinVar, Disgenet, GenCC, HPO, ClinGen
CCDC39 Unknown — Disgenet —
DYNC2LI1 Unknown Disgenet, GWAS catalog
GLI1 Unknown Disgenet
PRKACA Unknown Disgenet, HPO
Endocrine resistance MAPK signaling pathway Ras signaling pathway +95 more
PRKACB Unknown Disgenet, GWAS catalog
Endocrine resistance MAPK signaling pathway Ras signaling pathway +86 more
TRAF3IP1 Unknown — Disgenet
WDR35 Unknown — Disgenet
All9 Causal2 Unknown9