Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912438
rs121912438
0.010 GeneticVariation BEFREE BNIP1 expression was significantly reduced in spinal cord motor neurons from patients with ALS (4 controls: mean age, 60.5 years, mean [SE] value, 3984 [760.8] arbitrary units [AU]; 7 patients with ALS: mean age, 56 years, mean [SE] value, 1999 [274.1] AU; P = .02), in an ALS mouse model (mean [SE] value, 13.75 [0.09] AU for 2 SOD1 WT mice and 11.45 [0.03] AU for 2 SOD1 G93A mice; P = .002) and in brains of patients with PSP (80 controls: 39 females; mean age, 82 years, mean [SE] value, 6.8 [0.2] AU; 84 patients with PSP: 33 females, mean age 74 years, mean [SE] value, 6.8 [0.1] AU; β = -0.19; P = .009) or FTD (11 controls: 4 females; mean age, 67 years; mean [SE] value, 6.74 [0.05] AU; 17 patients with FTD: 10 females; mean age, 69 years; mean [SE] value, 6.53 [0.04] AU; P = .005). 29630712

2018

dbSNP: rs1223904774
rs1223904774
APP
0.010 GeneticVariation BEFREE The PS-1 M146V mutation was found in the 50-year-old subject (the proband) with family history of early-onset FTD. 23489366

2013

dbSNP: rs1235948930
rs1235948930
0.010 GeneticVariation BEFREE Neuropathological and biochemical findings are reported in a patient who had suffered from frontotemporal dementia associated with a P310L mutation in the tau gene and included in the H1 haplotype. 14757934

2003

dbSNP: rs1251696640
rs1251696640
0.010 GeneticVariation BEFREE We found a novel heterozygous missense mutation (c.973A>G, p.N325D) in a sporadic ALS patient, which suggests that TIA1 LCD mutations are not common in Chinese ALS/ALS-FTD. 29699721

2018

dbSNP: rs1254158201
rs1254158201
0.010 GeneticVariation BEFREE The clinical phenotype of patient 1 (mutation p.Glu396*) was compatible with the behavioural variant (bv) of FTD. 26234378

2016

dbSNP: rs12546767
rs12546767
0.700 GeneticVariation GWASCAT C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. 24931836

2014

dbSNP: rs1284201310
rs1284201310
0.010 GeneticVariation BEFREE We found genetic etiology in 6 patients: 2 mutations in the PSEN1 gene (p.Pro264Ser and p.Phe105Cys) in the EOAD patients, C9orf72 expansion and MAPT (c.1920+16C>T), mutation in the FTD group of patients as well as MAPT (c.1920+16C>T) mutation and likely pathogenic mutation in the TYROBP mutation (p.Asp32Asn) in patients with unspecified diagnosis. 29930232

2018

dbSNP: rs1291370551
rs1291370551
GRN
0.020 GeneticVariation BEFREE Our data show not only that the IVS1 + 5G > C mutation has an exclusive association with FTLD-TDP type A proteinopathy but also that other proteinopathies can occur and should be looked for. 29370838

2018

dbSNP: rs1291370551
rs1291370551
GRN
0.020 GeneticVariation BEFREE Furthermore, elevated FLNC expression levels, observed previously in FTLD-TDP patients, were mainly attributable to FTD patients with the progranulin (GRN) p.0(IVS1 + 5G > C) loss-of-function mutation. 26555887

2015

dbSNP: rs1295855402
rs1295855402
0.010 GeneticVariation BEFREE Novel P397S MAPT variant associated with late onset and slow progressive frontotemporal dementia. 31402617

2019

dbSNP: rs13072484
rs13072484
A 0.700 GeneticVariation GWASCAT Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. 29724592

2018

dbSNP: rs1314736087
rs1314736087
0.010 GeneticVariation BEFREE Then, we investigated if an altered tau, such as the P301L mutated protein associated with frontotemporal dementia, could produce nuclear pathology. 18583940

2008

dbSNP: rs13302855
rs13302855
0.010 GeneticVariation BEFREE Among 124 876 cases and controls, genome-wide conjunction analyses of ALS, FTD, PD, AD, CBD, and PSP revealed significant genetic overlap between ALS and FTD at known ALS loci: rs13302855 and rs3849942 (nearest gene, C9orf72; P = .03 for rs13302855 and P = .005 for rs3849942) and rs4239633 (nearest gene, UNC13A; P = .03). 29630712

2018

dbSNP: rs13393316
rs13393316
A 0.700 GeneticVariation GWASCAT Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. 29724592

2018

dbSNP: rs1358071
rs1358071
0.010 GeneticVariation BEFREE Meta-analysis across two independent FTD cohorts revealed a genome-wide signal within the APOE region (rs6857, 3'-UTR=PVRL2, p=2.21×10<sup>-12</sup>), and a suggestive signal for rs1358071 within the MAPT region (intronic=CRHR1, p=4.91×10<sup>-7</sup>) with the effect allele tagging the H1 haplotype. 27899424

2017

dbSNP: rs1386649838
rs1386649838
GRN
0.010 GeneticVariation BEFREE Two novel (p.Thr262Ser and p.Arg159Ser) and one reported (p.Met158Val) VCP mutations in three patients with a clinical diagnosis of FTD were identified, and were absence in population-match controls. 30103325

2018

dbSNP: rs1386984902
rs1386984902
APP
0.010 GeneticVariation BEFREE The soluble fractalkine overexpression with adenoviral vectors reduced tau pathology and prevented neurodegeneration in a Tg4510 model of taupathy Finally, animals with Aβ (1-42) infused by lentivirus (cortex) or mice with the P301L mutation (frontotemporal dementia) had caspase-3 activation (8-fold) and higher proinflammatory TNF alpha levels and p-Tau deposits at 4 weeks postinfusion. 26567742

2016

dbSNP: rs139108915
rs139108915
0.010 GeneticVariation BEFREE This is the first report of familial FTD with the P301L mutation in Japan. 10865093

2000

dbSNP: rs1399104933
rs1399104933
0.010 GeneticVariation BEFREE Here we report an ALS/FTD kindred with a novel K181E TDP-43 mutation that is located in close proximity to the RRM1 domain. 31605140

2019

dbSNP: rs1401496725
rs1401496725
0.010 GeneticVariation BEFREE We consider G55R to be a candidate mutation for bvFTD since additional criteria required to establish causality are not yet available for assessment. 24086739

2013

dbSNP: rs140547520
rs140547520
0.010 GeneticVariation BEFREE Here, we combine a screen of a new cohort of 383 ALS patients with multiple-sequence datasets to refine estimates of the ALS and FTD risk associated with PFN1 E117G. 24309268

2014

dbSNP: rs1417373701
rs1417373701
0.010 GeneticVariation BEFREE We reported a Chinese FTD patient carrying TBK1 p.Ile334Thr variant detected by target sequencing and Sanger sequencing. 30672142

2019

dbSNP: rs142444896
rs142444896
0.010 GeneticVariation BEFREE Two missense variants, 5C>T (Pro2Leu) and 238A>G (Ile80Val), were identified in five unrelated patients with AD while no mutations were observed in patients with ALS or FTD. 29749507

2018

dbSNP: rs143624519
rs143624519
0.040 GeneticVariation BEFREE Thus, MAPT p.A152T is associated with a variety of FTD spectrum clinical presentations, although patients with clinical AD are also identified. 23518664

2014

dbSNP: rs143624519
rs143624519
0.040 GeneticVariation BEFREE MAPT p.A152T was borderline significantly associated with FTD [odds ratio (OR) = 2.03; p = 0.063], but not with AD. 26444794

2016