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: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
0.110 GeneticVariation group CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961 2014
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
0.110 GeneticVariation group LHGDN The authors describe four members of a family with a novel P284S presenilin 1 mutation presenting a clinical phenotype characterized by early-onset dementia, paratetraparesis, dysarthria, dysphagia, and marked involvement of brain white matter. 16401857 2006
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
0.110 Biomarker group HPO