PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Neurobehavioral Manifestations ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0525041
Disease: Neurobehavioral Manifestations
Neurobehavioral Manifestations 		0.010 GeneticVariation phenotype BEFREE However, in this family, an individual whose child carries the PS1 mutation died at age 67 years free from cognitive symptoms, indicating a very late age at onset or nonpenetration of the disease. 9605727 1998