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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
ASPHYXIATING THORACIC DYSTROPHY 2 IFT80 Causal CTD, ClinGen, ClinVar, Disgenet
ASPHYXIATING THORACIC DYSTROPHY 3 DYNC2H1 Causal ClinGen, ClinVar, Disgenet
ASPHYXIATING THORACIC DYSTROPHY 4 TTC21B Causal — ClinVar, GenCC
ASPHYXIATING THORACIC DYSTROPHY 5 WDR19 Causal ClinVar, GenCC
All42 Causal4 Unknown42