PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Creutzfeldt-Jakob Disease, Familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial 		0.010 GeneticVariation disease BEFREE Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion. 10896268 2000