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: C3539781
Disease: Progressive cGVHD
Progressive cGVHD
0.010 GeneticVariation disease 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