PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Flexion contracture-shoulder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0409336
Disease: Flexion contracture-shoulder
Flexion contracture-shoulder 		0.100 GeneticVariation disease 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