PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Progressive Neoplastic Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		0.010 GeneticVariation phenotype BEFREE The PSEN1 mutation was associated with complete penetrance and progressive disease that resulted in the necessity of cardiac transplantation or in death. 17186461 2006