PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Prosopagnosia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234512
Disease: Prosopagnosia
Prosopagnosia 		0.010 GeneticVariation disease BEFREE A novel PSEN1 (S230N) mutation causing early-onset Alzheimer's Disease associated with prosopagnosia, hoarding, and Parkinsonism. 28764909 2017