PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Thick vermilion border ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.100 GeneticVariation phenotype 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