ENG, endoglin, 2022

N. diseases: 371; N. variants: 114
Disease: Familial pulmonary arterial hypertension ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GeneticVariation disease ORPHANET The genetics of pulmonary arterial hypertension. 24951767 2014
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GeneticVariation disease ORPHANET Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension. 23298310 2013
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GeneticVariation disease ORPHANET Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood. 15687131 2005
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		0.300 GeneticVariation disease ORPHANET Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension. 15115879 2004