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: 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