Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.320 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
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.320 GeneticVariation disease BEFREE Certain syndromic signatures were identified: pain and temperature symptoms were particularly prevalent in behavioural variant frontotemporal dementia (71% of cases) and semantic dementia (65% of cases) and in association with C9orf72 mutations (6/6 cases), but also developed in Alzheimer's disease (45% of cases) and progressive non-fluent aphasia (25% of cases). 26463677 2015
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
0.320 SusceptibilityMutation disease ORPHANET Clinic, neuropathology and molecular genetics of frontotemporal dementia: a mini-review. 23597030 2013