PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Extrapyramidal sign ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.120 GeneticVariation phenotype BEFREE We report a 22-year onset age man diagnosed with rapidly progressing early-onset Alzheimer's disease with predominant extrapyramidal symptoms as the initial presenting symptoms and V391G mutation in presenilin 1 gene (PSEN1) was founded. 28131463 2017
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.120 GeneticVariation phenotype BEFREE Novel PSEN1 mutation in a Bulgarian patient with very early-onset Alzheimer's disease, spastic paraparesis, and extrapyramidal signs. 19797784 2010
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.120 Biomarker phenotype HPO