PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Cerebellar atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 GeneticVariation disease BEFREE The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family. 28532646 2017
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 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