ENG, endoglin, 2022

N. diseases: 371; 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: rs1085307436
rs1085307436
Entrez Id: 2022;102723566
Gene Symbol: ENG;LOC102723566
ENG;LOC102723566
CUI: C4552070
Disease:
Pulmonary Hypertension, Primary, 1 		A 0.700 CausalMutation CLINVAR Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects. 26387786 2015
dbSNP: rs142896669
rs142896669
Entrez Id: 2022;102723566
Gene Symbol: ENG;LOC102723566
ENG;LOC102723566
CUI: C4552070
Disease:
Pulmonary Hypertension, Primary, 1 		T 0.700 CausalMutation CLINVAR Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension. 23298310 2013
dbSNP: rs150932144
rs150932144
Entrez Id: 2022;105379841
Gene Symbol: ENG;LOC105379841
ENG;LOC105379841
CUI: C4552070
Disease:
Pulmonary Hypertension, Primary, 1 		T 0.700 CausalMutation CLINVAR Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension. 23298310 2013