ANGPT1, angiopoietin 1, 284

N. diseases: 340; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.030 Biomarker disease BEFREE The angiopoietin-1 gene (ANGPT1) was investigated in all patients with familial or sporadic U-HAE. 28601681 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.030 Biomarker disease BEFREE Although previous studies have demonstrated that Ang-1 might play an important role in the development of familial pulmonary hypertension, the role of Ang-1 in the development of the pulmonary hypertension associated with CDH is poorly understood. 22917924 2013
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.030 AlteredExpression disease BEFREE A mechanistic link between familial and acquired pulmonary hypertension was demonstrated by the finding that angiopoietin-1 shuts off the expression of BMPR1A, a transmembrane protein required for BMPR2 signaling, in pulmonary arteriolar endothelial cells. 12571257 2003