Capillary malformation-arteriovenous malformation

Disease Term Disease ID Gene Symbol Classification References Source
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 C4748670 EPHB4 Causal Pathogenic evidence from ClinVar 28687708, 28730721, 29444212, 30578106, 30760892 ClinVar
SLC12A9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Capillary malformation-arteriovenous malformation 137667 RASA1 Causal Pathogenic evidence from ClinVar - ClinVar
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) C1842180 RASA1 Causal Pathogenic evidence from ClinVar 14639529, 18446851, 23164092, 24038909, 26499346, 29120072, 30635911 ClinVar
CCNH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18446851, 23164092, 24038909, 26499346, 29120072 -
STAMBP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23542699 -
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 C4747394 RASA1 Causal Pathogenic evidence from ClinVar 14639529, 22342634, 24038909, 27081547 ClinVar
CCM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14624391 -
CCNH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -