rs63750687, PSEN1

N. diseases: 33
Disease: Flexion contracture - elbow ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Flexion contracture - elbow
CUI: C0409338
Disease: Flexion contracture - elbow
0.700 GeneticVariation 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