Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Abnormality of the cerebellum
CUI: C1866129
Disease: Abnormality of the cerebellum
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