Pulmonary arterial hypertension

Disease Term Disease ID Gene Symbol Classification References Source
Familial pulmonary arterial hypertension C1701939 ACVRL1 Causal Pathogenic evidence from ClinVar 22632830, 23298310, 24936649, 24951767, 24956016 ClinVar
BMPR2 Causal Pathogenic evidence from ClinVar 19555857, 24951767 ClinVar
EIF2AK4 Causal Pathogenic evidence from ClinVar 25512148 ClinVar
ENG Causal Pathogenic evidence from ClinVar 15115879, 15687131, 23298310, 24951767 ClinVar
KCNK3 Causal Pathogenic evidence from ClinVar 23883380, 24951767 ClinVar
TBX4 Causal Pathogenic evidence from ClinVar 23502781, 23592887 ClinVar
CAV1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22474227 -
Idiopathic pulmonary arterial hypertension C3203102 ACVRL1 Causal Pathogenic evidence from ClinVar 14684682 ClinVar
BMPR2 Causal Pathogenic evidence from ClinVar 25460361, 26699722 ClinVar
EIF2AK4 Causal Pathogenic evidence from ClinVar 29844075 ClinVar
ENG Causal Pathogenic evidence from ClinVar - ClinVar
GDF2 Causal Pathogenic evidence from ClinVar - ClinVar
KCNK3 Causal Pathogenic evidence from ClinVar 28388887 ClinVar
TBX4 Causal Pathogenic evidence from ClinVar 27694411 ClinVar
ACTA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AGPAT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ALMS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARHGAP31 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ATP5F1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BANF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BMPR1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22374147 -
BSCL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CACNA1D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CAV1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29650961 -
CAVIN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CCN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CCR6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CHST3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CLCN7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pulmonary arterial hypertension C2973725 ACVRL1 Causal Pathogenic evidence from ClinVar 14684682 ClinVar
BMPR2 Causal Pathogenic evidence from ClinVar 26699722 ClinVar
EIF2AK4 Causal Pathogenic evidence from ClinVar 29844075 ClinVar
ENG Causal Pathogenic evidence from ClinVar - ClinVar
GDF2 Causal Pathogenic evidence from ClinVar - ClinVar
KCNK3 Causal Pathogenic evidence from ClinVar 28388887 ClinVar
TBX4 Causal Pathogenic evidence from ClinVar 27694411 ClinVar
ABCA3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACTA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AGPAT2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ALMS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ARHGAP31 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ATP5F1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BANF1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BSCL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CACNA1D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CAV1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29650961 -
CAVIN1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CCN2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CCR6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CHST3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -