Disease Term Disease ID Gene Symbol Classification References Source
Pulmonary Veno-Occlusive Disease (disorder) C0034091 BMPR2 Causal Pathogenic evidence from ClinVar 12446270, 16429395, 18626305, 26699722 ClinVar
EIF2AK4 Causal Pathogenic evidence from ClinVar 24292273, 29844075 ClinVar
Pulmonary venoocclusive disease 31837 BMPR2 Causal Pathogenic evidence from ClinVar - ClinVar
EIF2AK4 Causal Pathogenic evidence from ClinVar - ClinVar
PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT C3887658 BMPR2 Causal Pathogenic evidence from ClinVar 26699722 ClinVar
PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE C0340848 EIF2AK4 Causal Pathogenic evidence from ClinVar 24135949, 24292273, 25512148, 29844075 ClinVar