PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.130 AlteredExpression disease BEFREE Our results established a role of the cardiac expression of PSEN1 with AAV9 vectors as a promising therapeutic approach for post-ischaemic heart failure. 29521549 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.130 Biomarker disease BEFREE Additionally, in a myocardial ischemia model, deletion of PSEN1 in the cardiovascular system first protected mice by inducing adaptive hypertrophy but ultimately resulted in severe heart failure. 28617969 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.130 GeneticVariation disease BEFREE These data indicate that PSEN1 and PSEN2 mutations are associated with DCM and heart failure and implicate novel mechanisms of myocardial disease. 17186461 2006
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.130 Biomarker disease HPO