Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
0.010 GeneticVariation BEFREE Pallido-ponto-nigral degeneration (PPND), a major subtype of frontotemporal dementia with parkinsonism related to chromosome 17 (FTDP-17), is a progressive and terminal neurodegenerative disease caused by c.837 T > G mutation in the MAPT gene encoding microtubule-associated protein tau (rs63750756; N279K). 26373282 2015