Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100329167
Gene Symbol: AAA1
AAA1
0.010 GeneticVariation disease BEFREE The effects caused by these mutations strongly resemble those of pathological mutations of the AAA-ATPase p97 which cause the hereditary proteinopathy IBMPFD (inclusion body myopathy associated with Paget's disease of the bone and frontotemporal dementia). 28303975 2017
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
0.010 GeneticVariation disease BEFREE The effects caused by these mutations strongly resemble those of pathological mutations of the AAA-ATPase p97 which cause the hereditary proteinopathy IBMPFD (inclusion body myopathy associated with Paget's disease of the bone and frontotemporal dementia). 28303975 2017
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
0.010 Biomarker disease BEFREE These results show that pathogenic variants of known FTD genes are rare in Korean FTD patients but the CSF1R and AARS2 genes should be screened for a genetic diagnosis of FTD or other dementias. 30054184 2018
Entrez Id: 25
Gene Symbol: ABL1
ABL1
0.020 GeneticVariation disease BEFREE Mutations in the p150 subunit of the axonal transport protein dynactin (DCTN1) have been reported in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). 17824900 2007
Entrez Id: 25
Gene Symbol: ABL1
ABL1
0.020 GeneticVariation disease BEFREE A heterozygous R1101K mutation of the p150 subunit of dynactin (DCTN1) is reported in a family with amyotrophic lateral sclerosis (ALS) and co-occurrence of frontotemporal dementia (FTD). 16240349 2005
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.010 GeneticVariation disease BEFREE We screened 37 AD, 8 mild cognitive impairment (MCI), 3 AD and CVD (cerebrovascular disease), 3 MCI and CVD, 8 frontotemporal dementia (FTD) and 2 progressive supranuclear palsy (PSP) patients, and 28 normal controls (NCs).We sequenced PSEN1, PSEN2 and APP (EOAD risk factors), as well as MAPT, GRN and TARDBP for all cases and NCs, and analysed the APOE, CLU, CR1 and PICALM genotypes as well as the MAPT and ACE haplotypes (LOAD risk factors) for the AD (n = 37) and AD + MCI (n = 45) cases and NCs (n = 28).We identified variants in PSEN1, PSEN2 and TARDBP across a range of phenotypes (AD, AD and CVD, FTD and PSP), suggesting that screening of all known candidate genes of Alzheimer's and non-Alzheimer's forms of dementias in all dementia cases might be warranted. 26159191 2015
Entrez Id: 43
Gene Symbol: ACHE
ACHE
0.020 AlteredExpression disease BEFREE We investigated microglial activation with [(11)C]DAA1106 positron emission tomography (PET), striatal dopaminergic function with l-[beta-(11)C]dopa PET, acetylcholinesterase (AChE) activity with [(11)C]N-methylpiperidin-4-yl acetate PET, and morphologic brain changes with MRI in three persons (aged 38-41 years) with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17), who were presymptomatic gene carriers (PGCs) from an American kindred with pallidopontonigral degeneration. 20452812 2010
Entrez Id: 43
Gene Symbol: ACHE
ACHE
0.020 GeneticVariation disease BEFREE Biologically, plausible treatment strategies include the use of antidepressants (selective serotonin reuptake inhibitors or serotonin-specific reuptake inhibitor and monoamine oxidase inhibitors), acetylcholinesterase inhibitors, N-methyl-D-aspartic acid antagonists, mood stabilizers, antipsychotics, stimulants, antihypertensives, and agents that may ameliorate the symptoms of parkinsonism, pseudobulbar affect, and motor neuron disease that can often coexist with FTD. 21647712 2011
Entrez Id: 100
Gene Symbol: ADA
ADA
0.010 Biomarker disease BEFREE Here, we provide evidence that the RNA editing enzyme adenosine deaminase acting on RNA 2 (ADAR2) is mislocalized in C9orf72 repeat expansion mediated ALS/FTD. 30945056 2019
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2
0.010 Biomarker disease BEFREE The present findings showed that Anodal tDCS applied bilaterally over the fronto-temporal cortex significantly improves (1) neuropsychiatric symptoms (as measured by the neuropsychiatric inventory, NPI) in FTD patients immediately after tDCS treatment, and (2) simple visual reaction times (sVRTs) up to 1 month after tDCS treatment. 30420799 2018
Entrez Id: 104
Gene Symbol: ADARB1
ADARB1
0.010 Biomarker disease BEFREE Here we show the mislocalization of ADAR2 in human induced pluripotent stem cell-derived motor neurons (hiPSC-MNs) from C9orf72 patients, in mice expressing (G<sub>4</sub>C<sub>2</sub>)<sub>149</sub>, and in C9orf72 ALS/FTD patient postmortem tissue. 30945056 2019
Entrez Id: 2334
Gene Symbol: AFF2
AFF2
0.010 AlteredExpression disease BEFREE Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD. 31784536 2019
Entrez Id: 213
Gene Symbol: ALB
ALB
0.010 Biomarker disease BEFREE We examined the presence of NMDA-R Abs in serum and CSF using a cell-based immunofluorescence assay as well as the function of the blood-CSF-barrier (B-CSF-B) by determination of Q albumin (ratio of albumin in CSF and serum) in patients with mild cognitive impairment (MCI; N = 59) and different types of dementia, Alzheimer's disease (AD; N = 156), subcortical ischemic vascular dementia (SIVD; N = 61), and frontotemporal dementia (FTD; N = 34). 28176002 2018
Entrez Id: 10189
Gene Symbol: ALYREF
ALYREF
0.010 Biomarker disease BEFREE These data support ALYREF as a contributor to ALS/FTD and highlight its downregulation as a potential therapeutic target that may affect co-existing disease etiologies. 31036086 2019
Entrez Id: 290
Gene Symbol: ANPEP
ANPEP
0.020 GeneticVariation disease BEFREE Mutations in the p150 subunit of the axonal transport protein dynactin (DCTN1) have been reported in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). 17824900 2007
Entrez Id: 290
Gene Symbol: ANPEP
ANPEP
0.020 GeneticVariation disease BEFREE A heterozygous R1101K mutation of the p150 subunit of dynactin (DCTN1) is reported in a family with amyotrophic lateral sclerosis (ALS) and co-occurrence of frontotemporal dementia (FTD). 16240349 2005
Entrez Id: 328
Gene Symbol: APEX1
APEX1
0.010 AlteredExpression disease BEFREE Drosophila Ref1/ALYREF regulates transcription and toxicity associated with ALS/FTD disease etiologies. 31036086 2019
Entrez Id: 341
Gene Symbol: APOC1
APOC1
0.010 Biomarker disease BEFREE TOMM40, APOE, and APOC1 in primary progressive aphasia and frontotemporal dementia. 22710912 2012
Entrez Id: 347
Gene Symbol: APOD
APOD
0.010 Biomarker disease BEFREE Apolipoprotein D Upregulation in Alzheimer's Disease but Not Frontotemporal Dementia. 30467822 2019
Entrez Id: 348
Gene Symbol: APOE
APOE
0.100 Biomarker disease BEFREE The frequency of ApoE epsilon4 was 21% in patients with FTD, significantly less than the ApoE epsilon4 frequency in those patients with EOAD (38%) and those with LOAD (40%), but not significantly different from the ApoE epsilon4 frequency in elderly controls (13%). 9667603 1998
Entrez Id: 348
Gene Symbol: APOE
APOE
0.100 GeneticVariation disease BEFREE Logistic regression analysis showed that APOE gene variability affects the probability of disease, with allele epsilon4 increasing (exp(beta1) = 2.68 with [1.51-4.76] 95% confidence interval; p = 0.001) and allele epsilon2 decreasing (exp(beta1) = 0.28 with [0.12-0.66] 95% confidence interval; p = 0.003) the risk of FTD. 15904995 2006
Entrez Id: 348
Gene Symbol: APOE
APOE
0.100 Biomarker disease BEFREE APOE genotyping was performed in patients with probable Alzheimer's disease (AD) (n=504), frontotemporal dementia (FTD) (n=47), vascular dementia (VaD) (n=152), mixed dementia (n=132), mild cognitive impairment (MCI) (n=44), Parkinson's disease (PD) (n=30), dementia with Lewy bodies (DLB) (n=17), and multisystem atrophy (MSA)/progressive supranuclear palsy (PSP) (n=12). 12876259 2003
Entrez Id: 348
Gene Symbol: APOE
APOE
0.100 GeneticVariation disease BEFREE These data suggest a potential link between APOE 4 genotype and the specific form of frontotemporal dementia found in IBMPFD. 17224685 2007
Entrez Id: 348
Gene Symbol: APOE
APOE
0.100 Biomarker disease BEFREE We screened 37 AD, 8 mild cognitive impairment (MCI), 3 AD and CVD (cerebrovascular disease), 3 MCI and CVD, 8 frontotemporal dementia (FTD) and 2 progressive supranuclear palsy (PSP) patients, and 28 normal controls (NCs).We sequenced PSEN1, PSEN2 and APP (EOAD risk factors), as well as MAPT, GRN and TARDBP for all cases and NCs, and analysed the APOE, CLU, CR1 and PICALM genotypes as well as the MAPT and ACE haplotypes (LOAD risk factors) for the AD (n = 37) and AD + MCI (n = 45) cases and NCs (n = 28).We identified variants in PSEN1, PSEN2 and TARDBP across a range of phenotypes (AD, AD and CVD, FTD and PSP), suggesting that screening of all known candidate genes of Alzheimer's and non-Alzheimer's forms of dementias in all dementia cases might be warranted. 26159191 2015
Entrez Id: 348
Gene Symbol: APOE
APOE
0.100 GeneticVariation disease BEFREE Only 1 FTD patient (homozygous for apolipoprotein E ε4) displayed high cortical (18)F-florbetapir retention, whereas (18)F-FDG PET demonstrated mesiofrontal hypometabolism consistent with the clinical diagnosis of FTD. 25655625 2015