Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4 		0.310 GeneticVariation disease BEFREE The identification of EPHB4 pathogenic mutations in patients presenting capillary malformation or vein of Galen aneurysmal malformation should lead to careful follow-up of pregnancy of carriers for early detection of anomaly of the cerebral vasculature in order to propose optimal neonatal care. 29444212 2018
Entrez Id: 2050
Gene Symbol: EPHB4
EPHB4 		0.310 GermlineCausalMutation disease ORPHANET The identification of EPHB4 pathogenic mutations in patients presenting capillary malformation or vein of Galen aneurysmal malformation should lead to careful follow-up of pregnancy of carriers for early detection of anomaly of the cerebral vasculature in order to propose optimal neonatal care. 29444212 2018
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4 		0.100 Biomarker disease HPO
Entrez Id: 2773
Gene Symbol: GNAI3
GNAI3 		0.100 Biomarker disease HPO
Entrez Id: 1906
Gene Symbol: EDN1
EDN1 		0.100 Biomarker disease HPO
Entrez Id: 6594
Gene Symbol: SMARCA1
SMARCA1 		0.010 Biomarker disease BEFREE Signal intensity and Angioarchitecture of VGAM and cerebral veins on SWI, as well as hydrocephalus and clinical outcome were evaluated. 30423378 2019
Entrez Id: 2022
Gene Symbol: ENG
ENG 		0.010 GeneticVariation disease BEFREE The findings of this case suggest that an endoglin mutation might be linked with VGAM. 21987708 2011