Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 Biomarker disease BEFREE Bidirectional Transcriptional Inhibition as Therapy for ALS/FTD Caused by Repeat Expansion in C9orf72. 28009271 2016
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 GeneticVariation disease BEFREE Pathogenic mutations in known frontotemporal dementia (FTD)/ALS genes were identified in 100% of these familial PPA cases but only 50% of familial PPA-ALS cases, suggesting the involvement of novel genetic variants in this underacknowledged phenotype. 30770429 2019
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 Biomarker disease BEFREE Collectively, our evidence demonstrates that human ALS/FTD-linked mutations in FUS induce a gain of toxicity that includes stress-mediated suppression in intra-axonal translation, synaptic dysfunction, and progressive age-dependent motor and cognitive disease without cytoplasmic aggregation, altered nuclear localization, or aberrant splicing of FUS-bound pre-mRNAs.VIDEO ABSTRACT. 30344044 2018
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 Biomarker disease BEFREE Elucidation of the genetic basis of ALS/PDC should improve our understanding of related neurodegenerative disorders including Alzheimer disease, Parkinson disease, frontotemporal dementia and ALS. 19567404 2009
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 Biomarker disease BEFREE Clinical and neuroimaging data were compared between C9+ (15 behavioral variant FTD [bvFTD], 11 FTD-motor neuron disease [MND], 5 amyotrophic lateral sclerosis [ALS]) and sporadic noncarriers (48 bvFTD, 19 FTD-MND, 6 ALS). 22875087 2012
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 Biomarker disease BEFREE We investigated the primary motor cortices isolated from post-mortem normal control subjects, patients with familial ALS (fALS), sporadic ALS (sALS), ALS with frontotemporal dementia (FTD-ALS), and Alzheimer's disease (AD), and found profound apical dendrite degeneration of Betz cells in both fALS and sALS, as well as FTD-ALS patients. 28165465 2017
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 GeneticVariation disease BEFREE Behavioral changes were defined as >22 points on the ALS-Frontotemporal-Dementia-Questionnaire or ≥3 points on ≥2 items of the Neuropsychiatric Inventory. 27671483 2016
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 GeneticVariation disease BEFREE An expanded hexanucleotide repeat in the C9orf72 gene is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). 23818065 2013
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 GeneticVariation disease BEFREE This further supports the concept that ALS genes are a rare cause of FTD. 25179229 2015
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 GeneticVariation disease BEFREE Previous studies indicate that causative mutations in AD and FTD/ALS genes can be found in clinical familial AD. 29091718 2017
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 Biomarker disease BEFREE Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features. 30454072 2018
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 Biomarker disease BEFREE He later developed ALS symptoms, and post mortem neuropathological findings were diagnostic of FTD-ALS, while no findings suggested AD. 23216213 2014
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 Biomarker disease BEFREE The spectrum of TDP-43 proteinopathies includes FTLD-TDP with or without ALS, with or without mutations in GRN, VCP, or TARDBP, with or without chromosome 9p linkage, and sporadic and non-SOD1 familial ALS with or without FTLD-TDP. 21607722 2011
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 GeneticVariation disease BEFREE Fifty-seven percent consider a family history of frontotemporal dementia and 48.5% the presence of a known ALS genetic mutation as sufficient for a diagnosis of FALS. 28159885 2017
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 Biomarker disease BEFREE Cluster analysis revealed significant class separation of FTD-ALS from controls. 28827549 2017
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 GeneticVariation disease BEFREE Genotype/phenotype correlation reveals clinical pleiotropy for several ALS genes, which can be linked, for example, to ataxia or Parkinsonian syndromes beyond classical ALS and frontotemporal dementia (FTD) phenotypes. 31335339 2019
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 Biomarker disease BEFREE This review summarizes the key points leading up to our current understanding of the genetic, clinical and neuropathological overlap between FTD and ALS. 28449882 2017
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 Biomarker disease BEFREE Modules were also examined for their overlap with TDP-43 protein-protein interactions, revealing one module enriched with RNA-binding proteins and other causal ALS genes that increased in FTD/ALS and FTD cases. 29191947 2018
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 Biomarker disease BEFREE This unusual combination of inclusions appears pathognomonic for C9orf72 repeat expansion positive MND/ALS and FTLD-TDP which we believe form a pathologically distinct subset of TDP-43 proteinopathies. 22101323 2011
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 Biomarker disease BEFREE hnRNPA2, a component of RNA-processing membraneless organelles, forms inclusions when mutated in a syndrome characterized by the degeneration of neurons (bearing features of amyotrophic lateral sclerosis [ALS] and frontotemporal dementia), muscle, and bone. 29358076 2018
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 GeneticVariation disease BEFREE To evaluate the frequency of SQSTM1 mutations, we sequenced this gene in a cohort of patients with FTD or FTD-ALS, with no mutations in known FTD and ALS genes. 24042580 2013
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 GeneticVariation disease BEFREE To describe clinical, pathologic, and genetic features of three FTD patients having either a family history of FTD (A.III.1 and B.II.1) or of ALS (C.III.1). 17202431 2007
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 Biomarker disease BEFREE FTD and ALS: genetic ties that bind. 22017980 2011
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 Biomarker disease BEFREE All five compounds also inhibited RAN translation of expanded GGGGCC repeats associated with ALS and FTD. 31649034 2019
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.100 GeneticVariation disease BEFREE An expanded hexanucleotide repeat in C9orf72 causes amyotrophic lateral sclerosis and frontotemporal dementia (c9FTD/ALS). 27516603 2016