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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION CCNH Unknown — Disgenet
EPHB4 Unknown — Disgenet
RASA1 Unknown — CTD, Disgenet
STAMBP Unknown CTD, Disgenet
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 KRAS Causal — Disgenet
EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 more
PIK3CA Causal — Disgenet
Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +149 more
RASA1 Causal — ClinVar, Disgenet, GenCC, HPO
CCNH Unknown — Disgenet
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 EPHB4 Causal — ClinVar, Disgenet, GenCC, HPO
SLC12A9 Unknown — Disgenet —
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION SYNDROME EPHB4 Causal ClinVar, GWAS catalog
RASA1 Causal GWAS catalog
CAPILLARY MALFORMATIONS, CONGENITAL GNAQ Unknown — CTD, HPO
Rap1 signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +52 more
All8 Causal4 Unknown6