ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
Disease: Pulmonary Hypertension, Primary, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307410
rs1085307410
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4552070
Disease:
Pulmonary Hypertension, Primary, 1 		T 0.700 CausalMutation CLINVAR Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. 26387786 2015
dbSNP: rs1085307414
rs1085307414
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4552070
Disease:
Pulmonary Hypertension, Primary, 1 		C 0.700 CausalMutation CLINVAR Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. 26387786 2015
dbSNP: rs121909288
rs121909288
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4552070
Disease:
Pulmonary Hypertension, Primary, 1 		G 0.700 CausalMutation CLINVAR Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension. 24753439 2014
dbSNP: rs1085307413
rs1085307413
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4552070
Disease:
Pulmonary Hypertension, Primary, 1 		C 0.700 CausalMutation CLINVAR Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension. 23298310 2013
dbSNP: rs1085307411
rs1085307411
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4552070
Disease:
Pulmonary Hypertension, Primary, 1 		C 0.700 CausalMutation CLINVAR Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers. 22632830 2012
dbSNP: rs1085307425
rs1085307425
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4552070
Disease:
Pulmonary Hypertension, Primary, 1 		A 0.700 CausalMutation CLINVAR Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers. 22632830 2012
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4552070
Disease:
Pulmonary Hypertension, Primary, 1 		C 0.700 CausalMutation CLINVAR Genetics and genomics of pulmonary arterial hypertension. 19555857 2009
dbSNP: rs758683062
rs758683062
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4552070
Disease:
Pulmonary Hypertension, Primary, 1 		T 0.700 CausalMutation CLINVAR Genetics and genomics of pulmonary arterial hypertension. 19555857 2009
dbSNP: rs1085307412
rs1085307412
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4552070
Disease:
Pulmonary Hypertension, Primary, 1 		G 0.700 CausalMutation CLINVAR Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension. 18159113 2008
dbSNP: rs1085307417
rs1085307417
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4552070
Disease:
Pulmonary Hypertension, Primary, 1 		C 0.700 CausalMutation CLINVAR Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension. 18159113 2008
dbSNP: rs1085307419
rs1085307419
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4552070
Disease:
Pulmonary Hypertension, Primary, 1 		A 0.700 CausalMutation CLINVAR Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension. 18159113 2008
dbSNP: rs1085307426
rs1085307426
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
CUI: C4552070
Disease:
Pulmonary Hypertension, Primary, 1 		A 0.700 CausalMutation CLINVAR Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension. 18159113 2008