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: C0751265
Disease: Learning Disabilities
Learning Disabilities
0.310 GeneticVariation disease BEFREE We report a 35 year-old male with childhood learning disability and early onset dementia who is homozygous for the A431E variant in the PSEN1 gene. 30716424 2019
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities
0.310 Biomarker disease CTD_human Notoginsenoside R1 increases neuronal excitability and ameliorates synaptic and memory dysfunction following amyloid elevation. 25213453 2014