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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
HEREDITARY HEMORRHAGIC TELANGIECTASIA CCNH Unknown — Disgenet
GDF2 Unknown Disgenet, Orphanet
SMAD4 Unknown Disgenet, GWAS catalog, Orphanet
HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION ACVRL1 Unknown — Disgenet
ENG Unknown — Disgenet —
TELANGIECTASIA, HEREDITARY HEMORRHAGIC ACVRL1 Unknown CTD
ENG Unknown CTD —
GDF2 Unknown CTD
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 GDF2 Unknown Disgenet, HPO
RASA1 Unknown — Disgenet
SMAD4 Unknown Disgenet
All7 Causal5 Unknown6