Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Primary Progressive Nonfluent Aphasia
0.360 Biomarker disease BEFREE There are three major associated clinical syndromes, behavioral variant frontotemporal dementia (bvFTD), semantic dementia (SD) and progressive non-fluent aphasia (PNFA); three principal histologies, involving tau, TDP-43 and FUS proteins; and mutations in three major genes, MAPT, GRN and C9orf72, along with several other less common gene mutations. 28100023 2017
Primary Progressive Nonfluent Aphasia
0.360 GeneticVariation disease BEFREE In the case of the MAPT mutation, the family presented with both bvFTD and PNFA phenotypes, while the VCP mutation was also related to an early-onset AD phenotype. 27439681 2016
Primary Progressive Nonfluent Aphasia
0.360 GeneticVariation disease BEFREE As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family. 27311648 2016
Primary Progressive Nonfluent Aphasia
0.360 SusceptibilityMutation disease ORPHANET Clinic, neuropathology and molecular genetics of frontotemporal dementia: a mini-review. 23597030 2013
Primary Progressive Nonfluent Aphasia
0.360 GeneticVariation disease BEFREE The V363I mutation of the microtubule-associated protein tau gene has previously been associated with a case of primary progressive nonfluent aphasia with variable penetrance. 21343707 2011
Primary Progressive Nonfluent Aphasia
0.360 GeneticVariation disease BEFREE MAPT mutations and clinical diagnosis of PNFA and CBD were associated with tau-positive pathology. 18357425 2008
Primary Progressive Nonfluent Aphasia
0.360 GeneticVariation disease BEFREE Progressive nonfluent aphasia associated with a new mutation V363I in tau gene. 17712160 2007