GWAS: Mesial temporal lobe epilepsy with hippocampal sclerosis
Description:
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Mesial temporal lobe epilepsy with hippocampal sclerosis. The EFO term Mesial temporal lobe epilepsy with hippocampal sclerosis was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
D Kasperaviciute, CB Catarino, M Matarin, C Leu, J Novy, A Tostevin, B Leal, EV Hessel, K Hallmann, MS Hildebrand, HH Dahl, M Ryten, D Trabzuni, A Ramasamy, S Alhusaini, CP Doherty, T Dorn, J Hansen, G Krämer, BJ Steinhoff, D Zumsteg, S Duncan, RK Kälviäinen, KJ Eriksson, AM Kantanen, M Pandolfo, U Gruber-Sedlmayr, K Schlachter, EM Reinthaler, E Stogmann, F Zimprich, E Théâtre, C Smith, TJ O'Brien, K Meng Tan, S Petrovski, A Robbiano, R Paravidino, F Zara, P Striano, MR Sperling, RJ Buono, H Hakonarson, J Chaves, PP Costa, BM Silva, AM da Silva, PN de Graan, BP Koeleman, A Becker, S Schoch, M von Lehe, PS Reif, F Rosenow, F Becker, Y Weber, H Lerche, K Rössler, M Buchfelder, HM Hamer, K Kobow, R Coras, I Blumcke, IE Scheffer, SF Berkovic, ME Weale, N Delanty, C Depondt, GL Cavalleri, WS Kunz, SM Sisodiya
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Epilepsy (generalized). The EFO term epilepsy was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
M Steffens, C Leu, AK Ruppert, F Zara, P Striano, A Robbiano, G Capovilla, P Tinuper, A Gambardella, A Bianchi, A La Neve, G Crichiutti, CG de Kovel, D Kasteleijn-Nolst Trenité, GJ de Haan, D Lindhout, V Gaus, B Schmitz, D Janz, YG Weber, F Becker, H Lerche, BJ Steinhoff, AA Kleefuß-Lie, WS Kunz, R Surges, CE Elger, H Muhle, S von Spiczak, P Ostertag, I Helbig, U Stephani, RS Møller, H Hjalgrim, LM Dibbens, S Bellows, K Oliver, S Mullen, IE Scheffer, SF Berkovic, KV Everett, MR Gardiner, C Marini, R Guerrini, AE Lehesjoki, A Siren, M Guipponi, A Malafosse, P Thomas, R Nabbout, S Baulac, E Leguern, R Guerrero, JM Serratosa, PS Reif, F Rosenow, M Mörzinger, M Feucht, F Zimprich, C Kapser, CJ Schankin, A Suls, K Smets, P De Jonghe, A Jordanova, H Caglayan, Z Yapici, DA Yalcin, B Baykan, N Bebek, U Ozbek, C Gieger, HE Wichmann, T Balschun, D Ellinghaus, A Franke, C Meesters, T Becker, TF Wienker, A Hempelmann, H Schulz, F Rüschendorf, M Leber, SM Pauck, H Trucks, MR Toliat, P Nürnberg, G Avanzini, BP Koeleman, T Sander
Exomes were sequenced in parent-child autism trios to determine if de novo mutations are responsible for risk of developing ASD in families with no prior history.
Authors:
Brian J. O’Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P. Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D. Smith, Emily H. Turner, Ian B. Stanaway, Benjamin Vernot, Maika Malig, Carl Baker, Beau Reilly, Joshua M. Akey, Elhanan Borenstein, Mark J. Rieder, Deborah A. Nickerson, Raphael Bernier, Jay Shendure & Evan E. Eichler
A voltage-gated sodium channel subtype that is predominantly expressed in the CENTRAL NERVOUS SYSTEM. Defects in the SCN1A gene which codes for the alpha subunit of this sodium channel are associated with DRAVET SYNDROME, generalized epilepsy with febrile seizures plus, type 2 (GEFS+2), and familial hemiplegic migraine type 3.
Generated by gene2mesh v. 1.1.1
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Febrile seizures (MMR vaccine-related). The EFO term MMR-related febrile seizures was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
B Feenstra, B Pasternak, F Geller, L Carstensen, T Wang, F Huang, JL Eitson, MV Hollegaard, H Svanström, M Vestergaard, DM Hougaard, JW Schoggins, LY Jan, M Melbye, A Hviid
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Febrile seizures (MMR vaccine-unrelated). The EFO term febrile seizures was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
B Feenstra, B Pasternak, F Geller, L Carstensen, T Wang, F Huang, JL Eitson, MV Hollegaard, H Svanström, M Vestergaard, DM Hougaard, JW Schoggins, LY Jan, M Melbye, A Hviid
The chromosome 1 region has peak markers with of LOD of 3.45 and 3.46 for Alcoholism gender age and constraint as D1S2878 (165403366) D1S196 (167604128). Arbitrary interval of 25 MBp on each side of the peak makers was uploaded.
Authors:
Hill SY, Shen S, Zezza N, Hoffman EK, Perlin M, Allan W
All genes from DisGeNet and OMIM with evidence for an association is Epilepsy, found using the query term "epilepsy," are aggregated into this list. A binary score of 1 was added to indicate list membership.
All genes from DisGeNet and OMIM with evidence for an association is Autism Spectrum Disorder, found using the query term "Autism Spectrum Disorders" are aggregated into this list. A binary score of 1 was added to indicate list membership.
The total transcriptome including genes that are differentially expressed in cocaine addicts compared to control subjects. Post-mortem brain samples were collected from the dorsolateral prefrontal cortex (dlPFC) of the cocaine addict group and the control group. To assess gene expression, RNA-seq was performed. Data taken from Supplementary Table 2. Values presented are k.diff values. Data available from GEO with accession number GSE99349."
Authors:
Efrain A Ribeiro, Joseph R Scarpa, Susanna P Garamszegi, Andrew Kasarskis, Deborah C Mash, Eric J Nestler
Data from GEO GSE194368 and analyzed using GEO2R, only top gene shown. Authors identified transcriptional adaptations of GR signaling in the amygdala of humans with OUD. Thus, GRs, their coregulators and downstream systems may represent viable therapeutic targets to treat the “stress side” of OUD.
Authors:
Stephanie A Carmack, Janaina C M Vendruscolo, M Adrienne McGinn, Jorge Miranda-Barrientos, Vez Repunte-Canonigo, Gabriel D Bosse, Daniele Mercatelli, Federico M Giorgi, Yu Fu, Anthony J Hinrich, Francine M Jodelka, Karen Ling, Robert O Messing, Randall T Peterson, Frank Rigo, Scott Edwards, Pietro P Sanna, Marisela Morales, Michelle L Hastings, George F Koob, Leandro F Vendruscolo
Opioid use disorder_human_dorsolateral prefrontal cortex_coefficient
Description:
RNA sequencing on the dorsolateral prefrontal cortex (DLPFC) and nucleus accumbens (NAc) from unaffected comparison subjects (n = 20) and subjects diagnosed with opioid use disorder OUD (n = 20). Transcriptomic analyses identified differentially expressed transcripts and investigated the transcriptional coherence between brain regions using rank-rank hypergeometric orderlap.transcriptional differences by brain region in unaffected comparison subjects, finding unique transcriptional profiles in the DLPFC and NAc
Authors:
Marianne L Seney, Sam-Moon Kim, Jill R Glausier, Mariah A Hildebrand, Xiangning Xue, Wei Zong, Jiebiao Wang, Micah A Shelton, BaDoi N Phan, Chaitanya Srinivasan, Andreas R Pfenning, George C Tseng, David A Lewis, Zachary Freyberg, Ryan W Logan
Whole Brain Gene Expression Correlates for C2HCOUNT30 measured in BXD RI Males obtained using INIA Brain mRNA M430 (Jun06) RMA. The C2HCOUNT30 measures Open Field locomotion (activity beam breaks) 15-30 min post 2nd cocaine under the domain Cocaine. The correlates were thresholded at a p-value of less than 0.001.
Authors:
Philip VM, Duvvuru S, Gomero B, Ansah TA, Blaha CD, Cook MN, Hamre KM, Lariviere WR, Matthews DB, Mittleman G, Goldowitz D, Chesler EJ
Whole Brain Gene Expression Correlates for C2HDIS30 measured in BXD RI Males obtained using INIA Brain mRNA M430 (Jun06) RMA. The C2HDIS30 measures Open Field locomotion (cm) 15-30 min post 2nd cocaine under the domain Cocaine. The correlates were thresholded at a p-value of less than 0.001.
Authors:
Philip VM, Duvvuru S, Gomero B, Ansah TA, Blaha CD, Cook MN, Hamre KM, Lariviere WR, Matthews DB, Mittleman G, Goldowitz D, Chesler EJ
Hippocampus Gene Expression Correlates for OF_HAB_RATIO measured in BXD RI Females & Males obtained using GeneNetwork Hippocampus Consortium M430v2 (Jun06) RMA. The OF_HAB_RATIO measures Open Field - Habituation ratio (First:Last intervals) under the domain Basal Behavior. The correlates were thresholded at a p-value of less than 0.001.
Authors:
Philip VM, Duvvuru S, Gomero B, Ansah TA, Blaha CD, Cook MN, Hamre KM, Lariviere WR, Matthews DB, Mittleman G, Goldowitz D, Chesler EJ
Whole Brain Gene Expression Correlates for C1HDIS15 measured in BXD RI Females & Males obtained using INIA Brain mRNA M430 (Jun06) RMA. The C1HDIS15 measures Open Field locomotion (cm) 0-15 min post cocaine under the domain Cocaine. The correlates were thresholded at a p-value of less than 0.001.
Authors:
Philip VM, Duvvuru S, Gomero B, Ansah TA, Blaha CD, Cook MN, Hamre KM, Lariviere WR, Matthews DB, Mittleman G, Goldowitz D, Chesler EJ
Whole Brain Gene Expression Correlates for C2HCOUNT15 measured in BXD RI Females & Males obtained using INIA Brain mRNA M430 (Jun06) RMA. The C2HCOUNT15 measures Open Field locomotion (activity beam breaks) 0-15 min post 2nd cocaine under the domain Cocaine. The correlates were thresholded at a p-value of less than 0.001.
Authors:
Philip VM, Duvvuru S, Gomero B, Ansah TA, Blaha CD, Cook MN, Hamre KM, Lariviere WR, Matthews DB, Mittleman G, Goldowitz D, Chesler EJ
Whole Brain Gene Expression Correlates for C2HCOUNT15 measured in BXD RI Males obtained using INIA Brain mRNA M430 (Jun06) RMA. The C2HCOUNT15 measures Open Field locomotion (activity beam breaks) 0-15 min post 2nd cocaine under the domain Cocaine. The correlates were thresholded at a p-value of less than 0.001.
Authors:
Philip VM, Duvvuru S, Gomero B, Ansah TA, Blaha CD, Cook MN, Hamre KM, Lariviere WR, Matthews DB, Mittleman G, Goldowitz D, Chesler EJ
Whole Brain Gene Expression Correlates for C2HDIS15 measured in BXD RI Females & Males obtained using INIA Brain mRNA M430 (Jun06) RMA. The C2HDIS15 measures Open Field locomotion (cm) 0-15 min post 2nd cocaine under the domain Cocaine. The correlates were thresholded at a p-value of less than 0.001.
Authors:
Philip VM, Duvvuru S, Gomero B, Ansah TA, Blaha CD, Cook MN, Hamre KM, Lariviere WR, Matthews DB, Mittleman G, Goldowitz D, Chesler EJ
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