Capillary malformation-arteriovenous malformation
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| 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 | |
| PIK3CA | Causal | — | Disgenet | ||
| 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 |