SERPINE1, serpin family E member 1, 5054

N. diseases: 770; N. variants: 23
Disease: Plasminogen Activator Inhibitor-1 Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750067
Disease: Plasminogen Activator Inhibitor-1 Deficiency
Plasminogen Activator Inhibitor-1 Deficiency 		0.700 CausalMutation disease CLINVAR Life-threatening hemorrhage and prolonged wound healing are remarkable phenotypes manifested by complete plasminogen activator inhibitor-1 deficiency in humans. 21486382 2011
CUI: C2750067
Disease: Plasminogen Activator Inhibitor-1 Deficiency
Plasminogen Activator Inhibitor-1 Deficiency 		0.700 GermlineCausalMutation disease ORPHANET Human plasminogen activator inhibitor-1 (PAI-1) deficiency: characterization of a large kindred with a null mutation in the PAI-1 gene. 9207454 1997
CUI: C2750067
Disease: Plasminogen Activator Inhibitor-1 Deficiency
Plasminogen Activator Inhibitor-1 Deficiency 		0.700 CausalMutation disease CLINVAR Brief report: complete deficiency of plasminogen-activator inhibitor type 1 due to a frame-shift mutation. 1435917 1992
CUI: C2750067
Disease: Plasminogen Activator Inhibitor-1 Deficiency
Plasminogen Activator Inhibitor-1 Deficiency 		0.700 Biomarker disease CTD_human
CUI: C2750067
Disease: Plasminogen Activator Inhibitor-1 Deficiency
Plasminogen Activator Inhibitor-1 Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND