Literature Report for an ALS gene set
Introduction (back to top)

This literature report is generated for a set of concepts that you have a particular interest in. This Start Set is provided by you. The Start Set consists of concepts such as human genes, metabolites, pathways, bacteria, phenotypes and diseases. This report helps in the look-up of the relevant literature for your Start Set: it displays abstracts about each of your concepts and all inter-connections. Next, relations between the concepts of your Start Set and concepts that are part of our BioSets are described. BioSets are expert-curated sets of different biological concepts that describe a certain topic. Examples of BioSets that can optionally be included are: gut health, skin health, brain health, oncology and immunity. Finally, relations between the concepts of your Start Set and the Discovery Set are described. The Discovery Set contains over 200,000 biological concepts that are the basis of our KMAP database. The above is described in the overview picture below:

The report has been divided into several sections, designed to answer specific questions. These are listed below, you can click on the links to directly jump to a specific section.

What is known about the members of my set?
How are the concepts related to each other?
Which facts are known about the members of my set?
How are my concepts related to BioSets?
How is each concept related to new concepts?

What is known about the members of my set? (back to top)
The table below lists the concepts in your Start Set. For each of the concepts, the names and its synonyms (if any) are shown. The name of each concept is hyperlinked to a TenWise literature overview page for this concept. You can use the buttons to export the Start Set to another program. You can also use the search box to search for a concept in your set. When you type in a part of the word in this box, the table is automatically filtered and updated.

Set member Synonyms
CCL19CKb11; ELC; MIP-3Beta; MIP-3b; MIP-3beta; SCYA19; exodus-3
IL22RA1CRF2-9; IL22R
IL22IL-21; IL-22; IL-D110; IL-TIF; ILTIF; MGC79382; MGC79384; TIFIL-23; TIFa; zcyto18
IL21IL-21; Za11
C9orf72DENND9; DENNL72; MGC23980
How are the concepts related to each other? (back to top)
The table below shows how each concept is connected with all other concepts in you Start Set. The table works as follows. Each of the concepts from your set is listed in the table in the left panel. The number between parentheses shows the number of other concepts in your set that it has a connection to. Clicking on the ">" link displays the actual members on the right hand side, each with a separate link. Clicking on this link brings you to the TenWise Literature overview page that shows the abstracts in which the relation between the two concepts are described.

The network below is a visual representation of the data that are shown in the section above. You can use the controller in the top left corner to zoom and shift the network. You can also drag the nodes in the network to alter the position of the nodes. Clicking on a single node opens a new window in which the most relevant abstracts for that node are shown.
Clicking on the lines that connect 2 nodes opens up a window in which the abstracts are shown in which both nodes co-occur.

Which facts are known about the members of my set? (back to top)
This section lists individual sentences that were obtained from all abstracts in which a concept of your Start Set was mentioned together with a BioSet concept. You can use the search box to filter for specific words. The leftmost columns links directly to the PubMed abstract.

20598774FUS gene in a "true" sporadic ALS case.
20598774Mutations in the Cu/Zn superoxide dismutase (SOD1), transactive response (TAR)-DNA binding protein (TARDBP) and fused in sarcoma (FUS) genes account for approximately 1 third of familial amyotrophic lateral sclerosis (ALS) cases.
20598774We present the first case of an ALS patient carrying a de novo missense mutation of the FUS gene (c.
20598774This report highlights the importance of screening ALS patients, both familial and sporadic, for FUS mutations and also suggests that de novo mutations is a relevant mechanism underlying sporadic neurodegenerative disease.
21834058Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by the misfolding and aggregation of distinct proteins in affected tissues, however, the pathogenic cause of disease remains unknown.
21834058Recent evidence indicates that endoplasmic reticulum (ER) stress plays a central role in ALS pathogenesis.
22181065An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.
22181065We have identified four male patients who presented with the clinical features of a pure MND/ALS phenotype (without dementia) but who had distinctive cortical and cerebellar pathology that was different from other TDP-43 proteinopathies.
22181065Western blots of cortical lysates, in contrast to those of sporadic MND/ALS and FTLD-TDP, showed high p62 levels and low TDP-43 levels with no high molecular weight smearing.
22181065We conclude that these chromosome 9-linked MND/ALS cases represent a pathological sub-group with abundant p62 pathology in the cerebral cortex, hippocampus and cerebellum but with no significant associated cognitive decline.
23257289RNA-binding ability of FUS regulates neurodegeneration, cytoplasmic mislocalization and incorporation into stress granules associated with FUS carrying ALS-linked mutations.
23257289Amyotrophic lateral sclerosis (ALS) is an uncommon neurodegenerative disease caused by degeneration of upper and lower motor neurons.
23257289FUS is a DNA/RNA-binding protein (RBP) that forms cytoplasmic inclusions in ALS and frontotemporal lobular degeneration (FTLD) patients' brains and spinal cords.
23257289However, it is unknown whether the RNA-binding ability of FUS is required for causing ALS pathogenesis.
23257289We observed that these RNA-binding mutations block neurodegenerative phenotypes seen in the fly brains, eyes and motor neurons compared with the expression of RNA-binding-competent FUS carrying ALS-causing mutations.
23257289Interestingly, RNA-binding-deficient FUS strongly localized to the nucleus of Drosophila motor neurons and mammalian neuronal cells, whereas FUS carrying ALS-linked mutations was distributed to the nucleus and cytoplasm.
23881933Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
23881933METHODS: Using targeted high-throughput sequencing, we characterised the variation of 10 Mendelian and 23 low penetrance/tentative ALS genes within a population-based cohort of 444 Irish ALS cases (50 fALS, 394 sALS) and 311 age-matched and geographically matched controls.
23881933RESULTS: Known or potential high-penetrance ALS variants were identified within 17.
23881933ALS, 14.
23881933ALS genes and 9.
23881933ALS, 7.
23881933ALS) carried previously described ALS variants (C9orf72 8.
23881933ALS variant (p<0.
23881933CONCLUSIONS: Up to 17% of Irish ALS cases may carry high-penetrance variants within the investigated genes.
24094577We recently initiated a program to screen mutations of SOD1, TARDBP, and C9orf72 genes, the most commonly mutated genes in ALS patients in Western countries, in Chinese ALS patients.
24094577C6W) based on HUGO Gene Nomenclature in a familial ALS pedigree.
24094577We also found that the activities of SOD1 were significantly decreased in the C7W patient and the carriers of the family, compared with the SOD1 activities of normal family members.
24094577Like those of many other familial ALS families, variable clinical phenotypes in the C7W intrafamily suggest that potential genetic modifiers may contribute to this disease.
24503148METHODS: Pubmed search for literature about ALS, SMA, and BSMA for the period 10/2012 to 9/2013.
24503148Juvenile (onset <20y) and adult ALS (early onset 20-60y, late onset >60y) are differentiated.
24503148Onset, phenotype, progression, and outcome of ALS are variable between different mutations, different genes, and different countries.
24615479IMPORTANCE: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder primarily affecting the motor system, with extramotor involvement to a variable extent.
24615479An autosomal dominant hexanucleotide (GGGGCC) expansion in the noncoding region of the chromosome 9 open reading frame 72 (C9orf72) gene is the most frequent genetic cause of ALS, but its metabolic pattern has not been studied systematically.
24615479OBJECTIVES: To evaluate the use of 18fluorodeoxyglucose-positron-emission tomography as a marker of ALS pathology and investigate whether a specific metabolic signature is present in patients with C9orf72 mutations.
24615479DESIGN, SETTING, AND PARTICIPANTS: In total, 81 patients with a suspected diagnosis of ALS at University Hospital Leuven were prospectively investigated.
24615479ALS was made in 70 of 81 patients.
24615479Of these, 11 were C9orf72 positive and 59 were C9orf72 negative.
24615479ALS cases and 71% of primary lateral sclerosis cases.
24615479Patients who were C9orf72 positive did not differ in survival compared with those who were C9orf72 negative.
25249294Evidence of genetic heterogeneity in ALS has been found, with at least 31 genes being identified to date as causing ALS, and other genes being suggested as risk factors for susceptibility to the disease and for phenotype modifications.
25249294In recent years, new molecular genetic methodologies, especially GWAS and exome sequencing, have contributed to the identification of new ALS genes.
25249294Some of these genes (SOD1, TARDBP, FUS, and C9orf72) have homogenous frequencies in different populations.
25249294Here we investigate the frequency of the PFN1 gene in a Catalan ALS population.
25249294Our results are consistent with those described in other populations with very low frequencies, suggesting that PFN1 is a very rare cause of ALS worldwide.
25681989The distinct genetic pattern of ALS in Turkey and novel mutations.
25681989The frequency of amyotrophic lateral sclerosis (ALS) mutations has been extensively investigated in several populations; however, a systematic analysis in Turkish cases has not been reported so far.
25681989In this study, we screened 477 ALS patients for mutations, including 116 familial ALS patients from 82 families and 361 sporadic ALS (sALS) cases.
25681989FUS (5%), TARDBP (3.
25681989ALS in Turkey.
25681989No SOD1 mutations were detected in sALS patients; however, C9orf72 (3.
25681989ALS in the population.
25681989The spectrum of mutations reflect both the distinct genetic background and the heterogeneous nature of the Turkish ALS population.
26515626The neuropathologic molecular signature common to almost all sporadic amyotrophic lateral sclerosis (ALS) and most familial ALS is TDP-43 immunoreactive neuronal cytoplasmic inclusions.
26515626Genetic causes, including mutations in SOD1, TDP-43, FUS, and C9orf72, all have distinctive molecular neuropathologic signatures.
26515626Neuropathology will continue to play an increasingly key role in solving the puzzle of ALS pathogenesis.
26777436Sporadic amyotrophic lateral sclerosis (ALS) is considered to be a complex disease with multiple genetic risk factors contributing to the pathogenesis.
26972116Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin.
26972116Juvenile onset ALS is a very rare form of motor neuron disease, with the first symptoms of motor neuron degeneration manifested before 25 years of age.
26972116Mutations in the alsin (ALS2), senataxin (SETX), and spatacsin (SPG11) genes have been associated with familial ALS with juvenile onset and slow progression, whereas the genetic architecture of sporadic juvenile ALS remains unclear.
26972116We screened mutations in C9orf72, SOD1, FUS, TARDBP, ANG, VCP and PFN1 in 16 juvenile sporadic ALS patients.
26972116Four cases (25%) carrying FUS mutations and one individual (6%) harbouring a SOD1 mutation were identified.
26972116Our results suggest that FUS mutations are the most frequent genetic cause in early-onset sporadic ALS patients of Chinese origin.
26972116Genetic testing of FUS should be performed in early-onset ALS patients especially those with an aggressive disease course.
27056076The aim of this study was to obtain the mutation prevalence of CHCHD10 and the phenotypes with mutations in Chinese ALS patients.
27056076ALS patients including 487 sporadic ALS (SALS) and 12 familial ALS (FALS), from the Department of Neurology, West China Hospital of Sichuan University, were screened for mutations of all exons of the CHCHD10 gene by Sanger sequencing.
27056076All patients identified with mutations of CHCHD10 gene were screened for mutations of the common ALS causative genes including C9orf72, SOD1, TARDBP, FUS, PFN1, and SQSTM1.
27056076No mutation was found in the aforementioned common ALS causative genes in the patients who carried CHCHD10 mutations.
27056076Chinese SALS population suggests CHCHD10 gene mutation appears to be an uncommon cause of ALS in Chinese populations.
27056981Amyotrophic lateral sclerosis (ALS) is characterized by the degeneration of motor neurons resulting in a catastrophic loss of motor function.
27056981Mutations in a large number of genes have now been linked to ALS, including SOD1, TARDBP (TDP-43), FUS and C9orf72.
27056981Defective axonal transport is hypothesized to be a key factor in the selective vulnerability of motor nerves due to their extraordinary length and evidence that ALS occurs as a distal axonopathy.
27056981These results further support defects in axonal transport as a common factor in models of ALS that may contribute to the pathogenic process.
27400686Amyotrophic Lateral Sclerosis (ALS) is the most frequent motor neuron disease in adults.
27400686Classical ALS is characterized by the death of upper and lower motor neurons leading to progressive paralysis.
27400686Approximately 10 % of ALS patients have familial form of the disease.
27400686Numerous different gene mutations have been found in familial cases of ALS, such as mutations in superoxide dismutase 1 (SOD1), TAR DNA-binding protein 43 (TDP-43), fused in sarcoma (FUS), C9ORF72, ubiquilin-2 (UBQLN2), optineurin (OPTN) and others.
27400686Importantly, the genetic and phenotypic heterogeneity of ALS leads to a variety of responses to similar treatment regimens.
27400686In this perspective, we used subgroups of specific ALS-linked gene mutations to go through existing animal models and to provide a comprehensive profile of the differences and similarities between animal models of disease and human disease.
27400686For instance, this includes viral delivering of antisense oligonucleotide and small interfering RNA in SOD1, TDP-43 and C9orf72 mice models.
27400686Promising gene therapies raised possibilities for treating differently the major mutations in familial ALS cases.
27838743Five structurally and functionally different proteins, an enzyme superoxide dismutase 1 (SOD1), a TAR-DNA binding protein-43 (TDP-43), an RNA-binding protein FUS, a cofilin-binding protein C9orf72, and polypeptides generated as a result of its intronic hexanucleotide expansions, and to lesser degree actin-binding profilin-1 (PFN1), are considered to be the major drivers of amyotrophic lateral sclerosis.
27838743To this end, we employed a broad set of computational tools for intrinsic disorder analysis and conducted intensive literature search to gain information on the structural peculiarities of SOD1, TDP-43, FUS, C9orf72, and PFN1 and their intrinsic disorder predispositions, and the roles of intrinsic disorder in their normal and pathological functions.
27942908Could Sirtuin Activities Modify ALS Onset and Progression?Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a complex etiology.
27942908Sirtuins have been implicated as disease-modifying factors in several neurological disorders, and in the past decade, attempts have been made to check if manipulating Sirtuin activities and levels could confer benefit in terms of neuroprotection and survival in ALS models.
27942908Moving forward, it is important that the potentially beneficial effect of Sirtuins in ALS disease onset and progression are assessed in ALS models with TDP-43, FUS, and C9orf72 mutations.
27978769OBJECTIVE: To investigate gene mutations in familial form (FALS) and sporadic form (SALS) of amyotrophic lateral sclerosis (ALS) in a highly miscegenated population.
27978769METHODS: Frequencies of mutations in the C9orfF72, TARDBP, SOD1, FUS and VAPB genes were investigated in a cohort of FALS (n = 39) and SALS (n = 189) subjects from the Research Centre of the University of São Paulo School of Medicine.
27978769All patients were subjected to C9orf72 and TARDBP analyses.
27978769SOD1, FUS and VAPB were also evaluated in FALS subjects.
27978769CONCLUSIONS: TARDBP and C9orf72 mutations in this cohort were similar to those found in other centres worldwide.
28057298Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder that affects upper and/or lower motor neurons.
28057298We examine the biological functions of these genes to assess how these pathogenic variants contribute to ALS pathogenesis by integrating findings from studies in Drosophila melanogaster and mammals.
28057713The overall pooled mutation frequencies of these major ALS-related genes were 47.
28057713ALS genes between European and Asian patients.
28072389Suppression of C9orf72 RNA repeat-induced neurotoxicity by the ALS-associated RNA-binding protein Zfp106.
28072389Expanded GGGGCC repeats in the first intron of the C9orf72 gene represent the most common cause of familial amyotrophic lateral sclerosis (ALS), but the mechanisms underlying repeat-induced disease remain incompletely resolved.
28105640Amyotrophic lateral sclerosis (ALS) is a clinically and genetically heterogeneous fatal neurodegenerative disease.
28105640Around 10% of ALS cases are hereditary.
28105640ALS gene discoveries have provided most of our understanding of disease pathogenesis.
28105640We aimed to describe the genetic landscape of ALS in Australia by assessing 1013 Australian ALS patients for known ALS mutations by direct sequencing, whole exome sequencing or repeat primed polymerase chain reaction.
28105640Australian ALS families in this cohort harbour a known ALS mutation.
28105640We also report ALS families with mutations in SOD1 (13.
28105640Notably, C9orf72 hexanucleotide repeat expansion positive patients experienced significantly later disease onset than ALS mutation patients.
28105640Our report highlights a unique spectrum of ALS gene frequencies among patients from the Australian population, and further, provides correlations between specific ALS mutations with disease onset and/or duration.
28159885Genetic testing in ALS: A survey of current practices.
28159885OBJECTIVE: To determine the degree of consensus among clinicians on the clinical use of genetic testing in amyotrophic lateral sclerosis (ALS) and the factors that determine decision-making.
28159885METHODS: ALS researchers worldwide were invited to participate in a detailed online survey to determine their attitudes and practices relating to genetic testing.
28159885Four main genes (SOD1, C9orf72, TARDBP, and FUS) are commonly tested.
28159885Responses varied between ALS specialists and nonspecialists and based on the number of new patients seen per year.
28159885Substantial variation exists in attitude and practices related to genetic testing of patients and presymptomatic testing of their relatives across geographic regions and between experienced specialists in ALS and nonspecialists.
28430856We found an increased burden of rare variants in patients within the untranslated regions of known disease-causing genes, driven by SOD1, TARDBP, FUS, VCP, OPTN and UBQLN2.
28444446Comparison of the clinical and cognitive features of genetically positive ALS patients from the largest tertiary center in Serbia.
28444446Discovering novel mutations in C9orf72, FUS, ANG, and TDP-43 genes in ALS patients arises necessities for better clinical characterizations of these subjects.
28444446The aim is to determine clinical and cognitive profile of genetically positive Serbian ALS patients.
28444446The following genes were analyzed: SOD1, C9orf72, ANG, FUS, and TDP-43.
28444446ALS patients carried mutations in tested genes-among 17 familiar ALS patients 16 (94.
28444446ALS patients.
28444446Our results suggest that meaningful clinical suspicion of certain ALS genotype might be made based on thorough clinical evaluation of patients.
28468939Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that primarily affects the motor system and presents with progressive muscle weakness.
28468939To date, around 20 genes are associated with ALS, with the most common causes of typical ALS associated with mutations in SOD1, TARDBP, FUS and C9orf72 Advances in our understanding of the genetic basis of ALS have led to the creation of different models of this disease.
28468939Here, we review the different model systems used to study ALS and discuss how they have contributed to our current knowledge of ALS disease mechanisms.
28468939ALS will accelerate progress in the development of novel treatments.
28620717Mutation screening of FUS, SOD1 and TARDBP genes was performed by direct sequencing.
28620717We found genetic variants in additional ALS or dementia-related genes in four pedigrees, including the p.
28620717Our observation supports the hypothesis that the co-presence of mutations in different genes may be relevant for the clinical expression of ALS/FTD and of their oligogenic nature.
28792508Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder.
28792508Here, we tested the DCTN1 protein-coding exons in 510 sporadic ALS patients in whom SOD1, TARDBP, FUS, and C9orf72 genes were screened before.
28792508These two patients exhibited spinal disease onset without cognitive impairment, and their onset age and diagnosis delay was within the average range of Chinese ALS patients.
28792508Our results suggested that variants in DCTN1 are not common risk factors for Chinese sporadic ALS and that the frequency of variants of unknown significance in the cohort study was 0.
28859526OBJECTIVE: More than 180 different superoxide dismutase 1 (SOD1) mutations have been described to date in amyotrophic lateral sclerosis (ALS) patients, including not completely penetrant ones leading to phenotypic heterogeneity among carriers.
28859526We collected DNA samples from five ALS families with not fully penetrant SOD1 mutations (p.
28859526Gly130_Glu133del) searching for epigenetic differences among ALS patients, asymptomatic/paucisymptomatic carriers and non-carrier family members.
28859526METHODS: Global DNA methylation levels (5-methylcytosine levels) were determined in blood DNA samples with an enzyme-linked immunosorbent assay (ELISA), and the methylation analysis of SOD1, FUS, TARDBP and C9orf72 genes was performed using Methylation-Sensitive High-Resolution Melting (MS-HRM) technique.
28859526RESULTS: Global DNA methylation levels were significantly higher in blood DNA of ALS patients than in asymptomatic/paucisymptomatic carriers or family members non-carriers of SOD1 mutations, and a positive correlation between global DNA methylation levels and disease duration (months) was observed.
28859526SOD1, FUS, TARDBP and C9orf72 gene promoters were demethylated in all subjects.
28859526CONCLUSIONS: The present study suggests that global changes in DNA methylation might contribute to the ALS phenotype in carriers of not fully penetrant SOD1 mutations, thus reinforcing the role of epigenetic factors in modulating the phenotypic expression of the disease.
28860970Amyotrophic Lateral Sclerosis (ALS) is a progressive and fatal neurodegenerative disease affecting both upper and lower motor neurons.
28860970Multiple genetic loci including genes involved in proteostasis and ribostasis have been linked to ALS providing key insights into the molecular mechanisms underlying disease.
28860970In particular, the identification of the RNA binding proteins TDP-43 and fused in sarcoma (FUS) as causative factors of ALS resulted in a paradigm shift centered on the study of RNA dysregulation as a major mechanism of disease.
28860970Here we will review recent efforts directed at understanding how altered RNA metabolism contributes to ALS pathogenesis.
28987183Amyotrophic lateral sclerosis (ALS) is the major motor neuron disorder.
28987183The hallmark proteins of the pathognomonic inclusions are SOD-1, TDP-43, or FUS; rarely the disease is caused by mutation of the respective genes.
28987183C9orf72 mutation) and the subsequent neuropathologic characterization have revealed remarkable overlap between ALS and non-tau FTLD also at a molecular level, indicating common molecular pathways in pathogenesis.
29031901Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are neurodegenerative disorders, related by signs of deteriorating motor and cognitive functions, and short survival.
29031901The overlap between ALS and frontotemporal dementia (FTD), the clinical syndrome associated with FTLD, occurs at clinical, genetic, and pathological levels.
29031901The hallmark proteins of the pathognomonic inclusions are SOD-1, TDP-43 or FUS, rarely the disease is caused by mutations in the respective genes.
29031901Almost all cases of ALS, as well as tau-negative FTLD share a common neuropathology, neuronal and glial inclusion bodies containing abnormal TDP-43 protein, collectively called TDP-43 proteinopathy.
29031901C9orf72 hexanucleotide expansion) and the subsequent neuropathological characterization have revealed remarkable overlap between ALS and FTLD-TDP indicating common pathways in pathogenesis.
29031901For ALS, an anti-glutamate agent riluzole may be offered to slow disease progression (Level A), and a promising molecule, arimoclomol, is currently in clinical trials.
29031901As new therapeutic approaches continue to emerge by targeting SOD1, TDP-43, or GRN, we present some advances that are being made in our understanding of the molecular mechanisms of these diseases, which together with gene and stem cell therapies may translate into new treatment options.
29650794Comprehensive analysis of the mutation spectrum in 301 German ALS families.
29650794OBJECTIVES: Recent advances in amyotrophic lateral sclerosis (ALS) genetics have revealed that mutations in any of more than 25 genes can cause ALS, mostly as an autosomal-dominant Mendelian trait.
29650794Detailed knowledge about the genetic architecture of ALS in a specific population will be important for genetic counselling but also for genotype-specific therapeutic interventions.
29650794We report C9orf72 mutations as well as variants in consensus splice sites and non-synonymous variants in protein-coding regions of ALS genes.
29650794RESULTS: 49% of our German ALS families carried a likely pathogenic variant in at least one of the earlier identified ALS genes.
29650794We identified several previously unreported rare variants and demonstrated the absence of likely pathogenic variants in some of the recently described ALS disease genes.
30014505At-risk individuals are enrolled through Pre-Symptomatic Familial ALS (Pre-fALS), a longitudinal natural history and biomarker study of individuals who are carriers of any ALS-associated gene mutation (in SOD1, C9orf72, TARDBP, FUS, VCP, etc), but who, at the time of enrollment, demonstrated no clinical symptoms or signs (including electromyographic evidence) of manifest disease.
30014505RESULTS: Serum and CSF NfL are substantially higher in ALS patients compared to controls and at-risk individuals and remain relatively stable over time.
30014505INTERPRETATION: Serum (and CSF) NfL are informative biomarkers of presymptomatic ALS, providing a new tool to quantify presymptomatic disease progression and to potentially predict the timing of clinical phenoconversion.
30045958The multistep hypothesis of ALS revisited: The role of genetic mutations.
30045958OBJECTIVE: Amyotrophic lateral sclerosis (ALS) incidence rates are consistent with the hypothesis that ALS is a multistep process.
30045958We tested the hypothesis that carrying a large effect mutation might account for ≥1 steps through the effect of the mutation, thus leaving fewer remaining steps before ALS begins.
30045958METHODS: We generated incidence data from an ALS population register in Italy (2007-2015) for which genetic analysis for C9orf72, SOD1, TARDBP, and FUS genes was performed in 82% of incident cases.
30045958This estimate was confirmed by data from the Irish ALS register.
30088417AIM: To investigate mitochondrial DNA (mtDNA) copy number and D-loop region methylation in carriers of SOD1, TARDBP, FUS and C9orf72 mutations.
30088417METHODS: Investigations were performed in blood DNA from 114 individuals, including amyotrophic lateral sclerosis (ALS) patients, presymptomatic carriers and noncarrier family members.
30088417ALS patients, and particularly in those with SOD1 or C9orf72 mutations.
30088417CONCLUSION: Demethylation of the D-loop region could represent a compensatory mechanism for mtDNA upregulation in carriers of ALS-linked SOD1 mutations.
30220791Amyotrophic lateral sclerosis (ALS) is the most frequent motor neuron disease, affecting the upper and/or lower motor neurons.
30220791However, extramotor symptoms can also occur; cognitive deficits are present in more than 40% of patients and 5-8% of ALS patients develop frontotemporal dementia.
30220791There is no effective treatment for ALS and median survival is 2-3 years after onset.
30220791By contrast, a monogenic cause can be identified in 70% of familial and 10% of sporadic ALS cases.
30220791Genetic counseling should be offered to all ALS patients and their first- and possibly second-degree relatives, and should include information about the possibilities and limitations of genetic testing.
30425620ALS Yeast Models-Past Success Stories and New Opportunities.
30425620Expressing ALS-associated proteins, such as superoxide dismutase (SOD1), TAR DNA binding protein 43 (TDP-43) and Fused in sarcoma (FUS), in yeast recapitulates major hallmarks of ALS pathology, including protein aggregation, mislocalization and cellular toxicity.
30425620Results from yeast have consistently been recapitulated in other model systems and even specimens from human patients, thus providing evidence for the power and validity of ALS yeast models.
30425620Focusing on impaired ribonucleic acid (RNA) metabolism and protein misfolding and their cytotoxic consequences in ALS, we summarize exemplary discoveries that originated from work in yeast.
30425620We also propose previously unexplored experimental strategies to modernize ALS yeast models, which will help to decipher the basic pathomechanisms underlying ALS and thus, possibly contribute to finding a cure.
30454072Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features.
30454072C9orf72 patients are known to have transactive response DNA binding protein 43 kDa (TDP-43) proteinopathy, but whether there is further cross over between C9orf72 pathology and the pathology of other ALS sub-types has yet to be revealed.
30454072We also characterised pathology in human C9orf72-ALS cases.
30454072Additionally, HSR activation correlated with disease progression in our C9-ALS/FTD zebrafish model.
30454072Lastly, we identified that the compound ivermectin, as well as riluzole, reduced HSR activation in both C9-ALS/FTD and SOD1 zebrafish models.
30454072Thus, our C9-ALS/FTD zebrafish model is a stable transgenic model which recapitulates key features of human C9orf72-ALS/FTD, and represents a powerful drug-discovery tool.
30723494Amyotrophic lateral sclerosis (ALS) is the most common adult-onset motor neuron disease and is characterized by the degeneration of upper and lower motor neurons.
30723494It has become increasingly clear that RNA dysregulation is a key contributor to ALS pathogenesis.
30723494The major ALS genes SOD1, TARDBP, FUS, and C9orf72 are involved in aspects of RNA metabolism processes such as mRNA transcription, alternative splicing, RNA transport, mRNA stabilization, and miRNA biogenesis.
30863961Continual discoveries of new genes and unraveling the genetic etiology in amyotrophic lateral sclerosis (ALS) have provided greater insight into the underlying pathogenesis in motor neuron degeneration, as well as facilitating the disease modeling and the testing of targeted therapeutics.
30863961However, the contributions of these causative genes to ALS vary among different populations.
30863961We systemically reviewed genetics literature of Chinese ALS populations and updated the mutation frequencies of the main ALS-implicated genes aiming to determine the genetic features of ALS in Chinese population.
30863961We also reviewed the associations between ALS-implicated single nucleotide polymorphisms (SNPs) and the risk of ALS in Chinese population.
30863961The results showed that the overall gene mutation rates of ALS-related causative genes were 55.
30863961ALS (FALS) and 11.
30863961ALS (SALS) in Chinese population.
30863961The associations between several SNPs and risk of ALS were also reported in Chinese population.
30863961The genetic features of ALS in Chinese population are significantly different from those in Caucasian population, indicating an association between genetic susceptibility and origin of population.
30863961Further explorations are required to understand the gene complexity of ALS, including the contribution of most minor genes and the molecular mechanisms in ALS pathologies.
30893702ALS patients, both sporadic and familial, without cognitive impairment was analyzed by next-generation sequencing with a multiple-gene panel comprising 23 genes, including MAPT, known to be associated with ALS and frontotemporal dementia.
30893702Twelve patients had mutations in the SOD1, TARDBP, MATR3, and FUS genes, while 10 patients carried the C9orf72 expansion.
30893702The present case further broadens the clinical phenotype associated with MAPT mutations and suggests that, although rarely, MAPT mutations can cause ALS and, therefore, should be analyzed in ALS patients, especially in those with early breathing difficulties and long-lasting disease.
30992063To date, over 25 genes have been implicated as causative in ALS with C9orf72, SOD1, FUS, and TARDBP accounting for the majority of genetically positive cases.
30992063RESULTS: We identified two patients of Italian and French ancestry with a clinical diagnosis of juvenile-onset ALS who were mutation-negative in any of the known ALS causative genes.
30992063We next parsed all candidates against a cohort of 3641 ALS cases; only ATP13A2 was found to harbor recessive changes, in a patient with juvenile-onset ALS, similar to the index case.
30992063CONCLUSIONS: We here expand the phenotypic spectrum associated with genetic variants in ATP13A2 that previously comprised Kufor-Rakeb syndrome, spastic paraplegia 78, and neuronal ceroid lipofuscinosis type 12 (CLN12), to also include juvenile-onset ALS, as supported by both genetic and functional data.
31108504Altered calcium dynamics and glutamate receptor properties in iPSC-derived motor neurons from ALS patients with C9orf72, FUS, SOD1 or TDP43 mutations.
31108504Until now only riluzole minimally extends life expectancy in ALS, presumably by inhibiting glutamatergic neurotransmission and calcium overload of MNs.
31108504Furthermore, the expression of kainate receptors and voltage gated calcium channels in mutant C9orf72 MNs as well as metabotropic glutamate receptors in mutant SOD1 cells was markedly elevated compared to controls.
31108504Our data of iPSC-derived MNs from familial ALS patients revealed several mutation-specific alterations in glutamate receptor properties and calcium dynamics that could play a role in ALS pathogenesis and may lead to future translational strategies with individual stratification of neuroprotective ALS treatments.
31127772Mutations and variants in APP, PSEN1, PSEN2, MAPT, GRN, VCP, CHMP2B, FUS, TARDBP, TREM2, TMEM106B, UBQLN2, SOD1, PRNP, UBQLN1, and BIN1 were screened by using a targeted next generation sequencing panel.
31736708The neuromuscular disorder amyotrophic lateral sclerosis (ALS) is characterized by protein inclusions formed by either TAR DNA-binding protein of 43 kDa (TDP-43), Cu/Zn superoxide dismutase (SOD1), or fused in sarcoma (FUS), in both upper and lower motor neurons.
31736708We suggest that the idiopathic nature of ALS may stem from its prion-like nature and that elucidation of the specific propagating protein assemblies is paramount to developing effective therapies.
31822699SMN complex member Gemin3 self-interacts and has a functional relationship with ALS-linked proteins TDP-43, FUS and Sod1.
31822699The predominant motor neuron disease in infants and adults is spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS), respectively.
31822699Focusing on motor behaviour, muscle mass and survival, we show that disruption of either TBPH/TDP-43 or Caz/FUS enhance defects associated with Gemin3 loss-of-function.
31822699In addition to reinforcing the link between SMA and ALS, further exploration of mechanistic overlaps is now possible in a genetically tractable model organism.
32028661Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms.
32028661We selected 213 consecutive patients with sporadic or familial (16%) ALS, tested negative for SOD1, FUS, TARDBP, and C9orf72 mutations.
32028661We also found 49 novel or rare gene variants of unknown significance in 30 patients (14%), 44 unlikely pathogenic variants (39%), and 48 variants in ALS susceptibility genes.
How are my concepts related to BioSets? (back to top)

The concepts in your Start Set can also be connected to predefined sets of terms of your interest (BioSets) that describe a certain disease, state or process. These BioSet typically consists of around 50 terms. BioSets can be added upon your request. The link in the table brings you to the page on the TenWise Literature overview page that shows the abstracts in which the relation between the two concepts are described.

Your set BioSet member Hits Score
C9orf72 colitis 1 0.3
C9orf72 cancer 3 0.0
SP1 Recurrent infection of the gastrointestinal tract 1 0.48
IL22 Recurrent infection of the gastrointestinal tract 4 1.18
IL21 Recurrent infection of the gastrointestinal tract 1 0.85
FUS colitis 1 0.0
FUS diarrhea 1 0.0
FUS cancer 121 0.3
FUS ulcerative colitis 1 0.0
FUS Crohn's disease 1 0.0
FUS colorectal cancer 3 0.0
FUS irritable bowel syndrome 1 0.3
FUS Vomiting 1 0.0
SOD1 Abdominal pain 1 0.0
IL22 irritable bowel syndrome 1 0.0
IL22 Constipation 2 0.0
SOD1 Nausea 1 0.0
SP1 Nausea 1 0.0
SULT1A1 Nausea 1 0.3
IL22 Nausea 2 0.0
IL21 Nausea 2 0.0
SP1 Vomiting 1 0.0
IL21 Vomiting 1 0.0
CCL19 Crohn's disease 4 0.48
SOD1 Crohn's disease 5 0.0
SP1 Crohn's disease 7 0.0
IL22 Crohn's disease 131 1.18
IL21 Crohn's disease 42 0.95
CCL19 colorectal carcinoma 3 0.78
SP1 colorectal carcinoma 9 0.48
IL22 colorectal carcinoma 3 0.3
IL21 colorectal carcinoma 2 0.3
CCL19 cancer 148 0.48
SOD1 cancer 229 0.3
SP1 cancer 1842 0.6
SULT1A1 cancer 189 0.78
TARDBP cancer 27 0.0
IL22RA1 cancer 18 0.6
IL22 cancer 382 0.3
IGFALS cancer 25 0.0
IL21 cancer 298 0.48
CCL19 ileitis 1 1.04
IL22 ileitis 6 1.18
CCL19 colitis 7 0.48
SOD1 colitis 12 0.3
SP1 colitis 12 0.0
IL22 colitis 297 1.36
IL21 colitis 95 1.15
IL22 gastroesophageal reflux disease 1 0.0
SOD1 inflammatory bowel disease 9 0.3
SOD1 diarrhea 2 0.0
SOD1 ulcerative colitis 7 0.3
SOD1 colorectal cancer 13 0.3
SOD1 Allergy 1 0.0
SOD1 serotonin metabolism 1 0.6
IGFALS diarrhea 2 0.0
IGFALS colorectal cancer 1 0.0
CCL19 inflammatory bowel disease 3 0.48
CCL19 ulcerative colitis 3 0.48
CCL19 colorectal cancer 12 0.6
CCL19 Celiac disease 2 0.7
CCL19 Allergy 2 0.3
SP1 ulcerative colitis 8 0.3
IL22 ulcerative colitis 120 1.2
IL21 ulcerative colitis 48 1.08
SP1 serotonin metabolism 1 0.48
SULT1A1 inflammatory bowel disease 1 0.3
SULT1A1 diarrhea 1 0.0
SULT1A1 colorectal cancer 19 0.95
SULT1A1 Allergy 1 0.3
IL21 inflammatory bowel disease 68 1.2
IL21 immunoglobulin alpha deficiency 4 1.32
IL21 diarrhea 9 0.3
IL21 colorectal cancer 18 0.48
IL21 Celiac disease 37 1.45
IL21 Allergy 26 0.7
SP1 inflammatory bowel disease 12 0.3
SP1 diarrhea 5 0.0
SP1 colorectal cancer 95 0.48
SP1 Allergy 4 0.0
IL22RA1 diarrhea 1 0.6
IL22 diarrhea 31 0.48
IL22 Celiac disease 25 1.04
IL22 inflammatory bowel disease 203 1.38
IL22 immunoglobulin alpha deficiency 3 0.95
IL22 colorectal cancer 47 0.48
IL22 Allergy 56 0.7
IL22RA1 inflammatory bowel disease 3 1.28
IL22RA1 Allergy 1 0.7
Your set BioSet member Hits Score
SOD1 Lewy bodies 7 0.7
SP1 Lewy bodies 1 0.0
TARDBP Lewy bodies 55 1.95
C9orf72 Lewy bodies 9 1.59
FUS Lewy bodies 9 1.28
IGFALS Lewy bodies 2 0.85
SOD1 autism spectrum disorder 1 0.0
SP1 autism spectrum disorder 4 0.3
IL22 autism spectrum disorder 7 0.48
C9orf72 autism spectrum disorder 1 0.48
FUS autism spectrum disorder 1 0.3
IL21 autism spectrum disorder 4 0.48
C9orf72 Lewy body dementia 11 1.81
C9orf72 Huntington's disease 18 1.58
C9orf72 dementia 450 2.14
C9orf72 Parkinson's disease 29 1.04
C9orf72 epilepsy 4 0.3
C9orf72 anxiety disorder 3 0.3
C9orf72 bipolar disorder 1 0.3
C9orf72 amyotrophic lateral sclerosis 575 2.91
C9orf72 mood disorder 1 0.85
C9orf72 schizophrenia 12 0.7
C9orf72 Neurodegeneration 164 2.04
C9orf72 Neurofibrillary tangles 1 0.7
C9orf72 Senile plaques 2 1.11
SOD1 Huntington's disease 50 1.15
SP1 Huntington's disease 33 0.78
TARDBP Huntington's disease 25 1.3
FUS Huntington's disease 18 1.26
IGFALS Huntington's disease 13 1.26
FUS Lewy body dementia 10 1.45
FUS dementia 190 1.45
FUS Parkinson's disease 44 0.9
FUS epilepsy 7 0.3
FUS anxiety disorder 4 0.0
FUS amyotrophic lateral sclerosis 652 2.64
FUS mood disorder 1 0.6
FUS schizophrenia 1 0.0
FUS Neurodegeneration 234 1.86
FUS Neurofibrillary tangles 4 0.9
FUS Transient ischemic attack 5 0.85
FUS Senile plaques 1 0.6
SOD1 Lewy body dementia 3 0.48
SP1 Lewy body dementia 1 0.0
TARDBP Lewy body dementia 40 1.95
IGFALS Lewy body dementia 2 0.95
CCL19 epilepsy 2 0.0
SOD1 epilepsy 11 0.0
SP1 epilepsy 14 0.0
TARDBP epilepsy 5 0.3
IL22 epilepsy 3 0.0
IGFALS epilepsy 5 0.3
IL21 epilepsy 2 0.0
CCL19 anxiety disorder 1 0.0
SOD1 anxiety disorder 17 0.0
SP1 anxiety disorder 8 0.0
TARDBP anxiety disorder 3 0.0
IL22 anxiety disorder 5 0.0
IGFALS anxiety disorder 1 0.0
IL21 anxiety disorder 1 0.0
SOD1 Transient ischemic attack 5 0.48
SP1 Transient ischemic attack 1 0.0
TARDBP Transient ischemic attack 10 1.0
IL22 Transient ischemic attack 1 0.0
IGFALS Transient ischemic attack 1 0.48
IL21 Transient ischemic attack 1 0.3
CCL19 schizophrenia 1 0.0
SOD1 schizophrenia 9 0.0
SP1 schizophrenia 23 0.3
TARDBP schizophrenia 5 0.3
IL22 schizophrenia 4 0.0
IGFALS schizophrenia 3 0.3
IL21 schizophrenia 3 0.0
SOD1 dementia 114 0.7
SOD1 Parkinson's disease 117 0.78
SOD1 bipolar disorder 6 0.3
SOD1 amyotrophic lateral sclerosis 2886 2.72
SOD1 mood disorder 1 0.3
SOD1 acute stress disorder 1 0.0
SOD1 vascular dementia 2 0.3
SOD1 Neurodegeneration 811 1.84
SOD1 Neurofibrillary tangles 12 0.85
SOD1 Senile plaques 12 1.0
IGFALS dementia 77 1.2
IGFALS Parkinson's disease 21 0.78
IGFALS bipolar disorder 1 0.3
IGFALS amyotrophic lateral sclerosis 667 2.79
IGFALS Neurodegeneration 165 1.86
IGFALS Neurofibrillary tangles 4 1.04
IGFALS Senile plaques 2 0.95
TARDBP dementia 606 1.85
TARDBP Parkinson's disease 75 1.04
TARDBP bipolar disorder 1 0.0
TARDBP amyotrophic lateral sclerosis 1387 2.87
TARDBP vascular dementia 1 0.48
TARDBP Neurodegeneration 538 2.13
TARDBP Neurofibrillary tangles 44 1.83
TARDBP Senile plaques 12 1.43
CCL19 bipolar disorder 1 0.3
CCL19 Neurodegeneration 1 0.0
CCL19 Neurofibrillary tangles 1 0.6
SP1 Parkinson's disease 36 0.3
SULT1A1 Parkinson's disease 1 0.0
IL22 Parkinson's disease 3 0.0
IL21 Parkinson's disease 1 0.0
SP1 amyotrophic lateral sclerosis 7 0.3
SP1 vascular dementia 1 0.0
SP1 Neurodegeneration 42 0.48
IL22RA1 Neurodegeneration 1 0.78
IL22 Neurodegeneration 10 0.3
IL21 Neurodegeneration 4 0.3
SP1 Neurofibrillary tangles 2 0.3
IL21 dementia 3 0.0
SP1 dementia 19 0.0
IL22 dementia 3 0.0
SP1 bipolar disorder 9 0.3
SP1 Senile plaques 2 0.3
IL22 bipolar disorder 3 0.3
How is each concept related to new concepts? (back to top)
The table below shows the link between the concepts in your set and other concepts. For each term, the 25 most significant links are shown for each concept category. The hits are the number of abstracts in which both concepts co-occur. Clicking on this link opens a new window in which the abstracts are shown in which both concepts co-occur. You can use the search button in the top right corner to filter the results for your concept of interest.

Your setRelationHitsScore
SOD1 lateral sclerosis 2892 7844
SOD1 amyotrophic lateral sclerosis 2886 7843
TARDBP lateral sclerosis 1391 3989
TARDBP amyotrophic lateral sclerosis 1387 3984
TARDBP frontotemporal dementia 953 3013
IGFALS lateral sclerosis 669 1865
IGFALS amyotrophic lateral sclerosis 667 1862
FUS lateral sclerosis 655 1725
FUS amyotrophic lateral sclerosis 652 1720
C9orf72 frontotemporal dementia 511 1694
C9orf72 lateral sclerosis 578 1682
C9orf72 amyotrophic lateral sclerosis 575 1676
TARDBP dementia 606 1121
SP1 cancer 1842 1108
SOD1 neurodegenerative disease 523 1075
C9orf72 dementia 450 964
IL22 psoriasis 505 901
FUS sarcoma 460 901
FUS frontotemporal dementia 286 781
SOD1 motor neuron disease 312 771
TARDBP motor neuron disease 182 493
TARDBP neurodegenerative disease 216 463
SOD1 amyotrophic lateral sclerosis type 1 124 442
IL22 colitis 297 404
IL22 dermatitis 291 384
IL22 arthritis 366 381
SP1 carcinoma 613 369
IL22 rheumatoid arthritis 279 319
FUS liposarcoma 117 292
SP1 breast cancer 405 283
IL22 inflammatory bowel disease 203 280
FUS dementia 190 274
IGFALS frontotemporal dementia 105 256
IL21 arthritis 225 250
IL21 rheumatoid arthritis 187 230
SP1 hepatocellular carcinoma 272 229
IL21 autoimmune hypersensitivity disease 127 204
IL21 lupus erythematosus 157 200
IGFALS neurodegenerative disease 95 192
SOD1 amyotrophic lateral sclerosis type 3 57 181
IL21 systemic lupus erythematosus 127 172
C9orf72 motor neuron disease 61 162
SULT1A1 cancer 189 147
SP1 leukemia 242 145
IL21 cancer 298 142
C9orf72 neurodegenerative disease 68 140
IGFALS motor neuron disease 52 125
SP1 neuroblastoma 122 122
SULT1A1 breast cancer 81 92
IGFALS dementia 77 92
CCL19 cancer 148 70
CCL19 obsolete metastatic squamous cell carcinoma 13 31
CCL19 rheumatoid arthritis 35 31
CCL19 arthritis 38 29
CCL19 lymphocytic leukemia 24 24
CCL19 chronic lymphocytic leukemia 19 24
SULT1A1 carcinoma 35 21
SULT1A1 urinary bladder cancer 15 19
SULT1A1 colorectal cancer 19 18
SULT1A1 hepatocellular carcinoma 14 11
IL22RA1 cancer 18 10
IL22RA1 pancreatic cancer 5 7
IL22RA1 psoriasis 5 7
IL22RA1 pancreatitis 4 5
IL22RA1 rheumatoid arthritis 4 4
IL22RA1 influenza 4 4
Your setRelationHitsScore
SP1 apoptosis 713 554
SOD1 apoptosis 577 521
IL22 necrosis 443 400
TARDBP RNA metabolism 110 267
IL22 Th17 differentiation 98 266
IL22 STAT3 signalling 115 229
IL21 Th17 differentiation 59 163
FUS RNA metabolism 68 157
IL22 apoptosis 255 153
TARDBP autophagy 102 149
SOD1 axonal transport 83 146
SOD1 autophagy 119 128
IL21 necrosis 160 124
SP1 necrosis 232 110
IL21 apoptosis 148 103
IL22 Th17 pathway 35 100
IL22 IL17 signalling 36 91
IL21 STAT3 signalling 48 90
SP1 Akt signalling 78 78
SOD1 necrosis 150 71
FUS nuclear transport 40 70
IGFALS RNA metabolism 31 65
SP1 ERK signalling 57 63
SP1 MAPK signalling 63 63
TARDBP nuclear transport 38 62
C9orf72 nucleocytoplasmic transport 22 59
C9orf72 autophagy 40 59
SOD1 NRF2 signalling 34 57
SP1 SMAD signalling 38 53
CCL19 necrosis 63 49
IGFALS autophagy 35 43
TARDBP nucleocytoplasmic transport 19 42
SULT1A1 estrogen metabolism 16 41
IL21 STAT signalling 25 41
CCL19 antigen presentation 24 39
SOD1 NRF2-ARE signalling 20 39
TARDBP protein metabolism 32 39
SULT1A1 drug metabolism 20 38
FUS autophagy 35 38
C9orf72 RNA metabolism 18 37
FUS RNA transport 16 37
IL21 JAK-STAT signalling 21 34
TARDBP apoptosis 68 32
CCL19 apoptosis 49 29
C9orf72 nuclear transport 17 29
FUS mRNA transport 14 29
SULT1A1 hormone metabolism 11 23
IL22RA1 STAT3 signalling 8 20
FUS apoptosis 42 20
CCL19 atherosclerosis 25 19
IGFALS branched-chain amino acid metabolism 8 19
C9orf72 RNA transport 8 18
IGFALS apoptosis 39 18
SULT1A1 xenobiotic metabolism 8 17
IGFALS IGF signalling 9 17
SULT1A1 steroid hormone metabolism 6 15
IGFALS amino acid metabolism 11 15
C9orf72 macroautophagy 6 11
CCL19 Akt signalling 10 10
CCL19 CXCR4 signalling 4 7
IL22RA1 apoptosis 8 6
IL22RA1 STAT signalling 3 6
IL22RA1 JAK-STAT signalling 3 6
IL22RA1 IL10 signalling 2 6
IL22RA1 wound healing 5 6
SULT1A1 steroid metabolism 3 4
Your setRelationHitsScore
SOD1 glutathione 713 970
SP1 chloramphenicol 341 508
SOD1 H2O2 388 504
SP1 estrogen 378 319
SOD1 malondialdehyde 216 289
SOD1 lipid 394 237
SULT1A1 phenol 105 214
SOD1 glutamate 216 195
SP1 glucocorticoid 194 175
SP1 serine 209 162
IL22 LPS 184 155
SOD1 cysteine 164 148
SP1 myristate 122 143
SP1 acetate 233 140
SULT1A1 estrogen 92 133
CCL19 LPS 97 116
SULT1A1 cytochrome 75 104
IL22 dextran 88 94
IGFALS glutamate 72 80
SULT1A1 3-phosphoadenylylsulfate 21 61
IL21 LPS 74 57
SULT1A1 estradiol 38 48
SULT1A1 glutathione 36 40
IL22 retinoid 39 40
IL22 tyrosine 75 35
FUS arginine 41 34
TARDBP glycine 37 33
IGFALS leucine 29 32
CCL19 prostaglandin 31 28
CCL19 sphingosine 18 28
C9orf72 arginine 28 28
IGFALS serine 29 24
IGFALS valine 18 24
IL22 myristate 27 22
IGFALS glycine 22 20
IGFALS alanine 24 20
IL21 tyrosine 42 20
TARDBP glutamate 33 19
TARDBP glutamine 22 19
IL22 lipid 65 19
C9orf72 glycine 19 19
C9orf72 guanine 15 17
FUS tyrosine 29 17
FUS doxorubicin 19 17
FUS glycine 21 16
TARDBP serine 25 15
C9orf72 proline 15 15
CCL19 phosphatidylinositol 17 14
CCL19 dextran 13 12
TARDBP arginine 21 12
IL21 retinoid 14 12
IL21 rapamycin 17 11
CCL19 glycosaminoglycan 10 10
TARDBP adenosine 21 10
IL21 phosphatidylinositol 18 10
IL21 dextran 15 10
FUS glutamine 12 9
IL22RA1 LPS 7 8
C9orf72 alanine 12 8
FUS proline 12 8
C9orf72 5-methylcytosine 4 6
IL22RA1 tyrosine 4 3
IL22RA1 serine 2 1
IL22RA1 biotin 1 1
IL22RA1 erythropoietin 1 1
IL22RA1 retinoid 1 1
Your setRelationHitsScore
IL22 IL21 2252 8024
IL21 IL22 2252 8024
IL22 IL17A 2267 6151
SP1 SP3 1067 3518
IL22 CD4 1617 2963
IL22 IL23A 847 2347
SOD1 SOD2 767 2329
CCL19 CCL21 532 2085
CCL19 CCR7 572 2017
IL21 CD4 1040 1984
IL21 IL17A 780 1967
IL22 IL10 1012 1947
IL22 IL6 1094 1829
TARDBP FUS 424 1478
FUS TARDBP 424 1478
SP1 FOS 615 1232
IL21 IL2 594 1195
SOD1 ROS1 681 1105
SP1 TFAP2A 393 1068
IL21 IL21R 259 1001
IL21 IL6 590 986
SOD1 CAT 459 916
IGFALS IGF1 360 854
SOD1 TARDBP 300 831
TARDBP SOD1 300 831
SP1 GTF3A 297 773
SP1 EGR1 314 713
SP1 NFKB1 442 698
TARDBP C9orf72 189 655
C9orf72 TARDBP 189 655
SOD1 GPX1 192 555
TARDBP GRN 176 546
SOD1 FUS 202 543
FUS SOD1 202 543
FUS EWSR1 155 495
CCL19 CXCL13 121 407
C9orf72 GRN 120 403
SULT1A1 SULT1A2 85 383
C9orf72 MAPT 109 368
CCL19 CXCL12 138 365
SULT1A1 SULT1A3 80 357
TARDBP VCP 110 335
IGFALS SOD1 122 319
CCL19 CCL20 99 300
C9orf72 FUS 90 291
FUS C9orf72 90 291
SULT1A1 SULT1E1 70 283
C9orf72 SOD1 103 281
IL22RA1 IL22 78 277
FUS TAF15 70 268
CCL19 CD4 168 255
IGFALS IGF2 99 239
SULT1A1 SULT2A1 55 220
FUS VCP 62 179
SULT1A1 SLC38A1 46 143
SULT1A1 SULT1B1 32 140
C9orf72 RAN 33 105
IL22RA1 IL10RB 19 81
IL22RA1 IL10 34 73
IL22RA1 STAT3 26 65
IL22RA1 IL24 16 59
IL22RA1 IL20 12 47