PR:000037580 presenilin-1 sequence variant E120K (human) hPSEN1/var:E120K|UniProtKB:P49768-1, Glu-120, CHEBI:29967 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-e120k EXP NCBITaxon:9606 Alzforum:psen1-e120k 20180510 PRO:DAN