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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:epilepsy with generalized tonic-clonic seizures
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Accession:DOID:7725 term browser browse the term
Definition:An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. (DO)
Synonyms:exact_synonym: Cryptogenic Tonic Clonic Epilepsy;   Epilepsy, Tonic-Clonic;   Familial Tonic Clonic Epilepsy;   Familial Tonic-Clonic Epilepsies;   GENERALIZED TONIC-CLONIC SEIZURES;   Grand Mal Convulsion;   Grand Mal Convulsions;   Grand Mal Epilepsy;   Grand Mal Seizure Disorder;   Major Epilepsies;   Major Epilepsy;   Major Motor Seizure Disorder;   Symptomatic Tonic Clonic Epilepsy;   Symptomatic Tonic-Clonic Epilepsies;   Tonic Clonic Convulsion;   Tonic Clonic Convulsion Disorder;   Tonic Clonic Convulsion Syndrome;   Tonic Clonic Convulsions;   Tonic Clonic Seizure Disorder;   Tonic Clonic Seizure Syndrome;   Tonic-Clonic Convulsion Disorders;   Tonic-Clonic Convulsion Syndromes;   Tonic-Clonic Epilepsies;   Tonic-Clonic Seizure Disorders;   cryptogenic tonic-clonic epilepsies;   tonic-clonic epileptic seizures;   tonic-clonic seizure syndromes
 primary_id: MESH:D004830
 xref: EFO:0007262;   NCI:C3022
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
epilepsy with generalized tonic-clonic seizures term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15121994 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Cux2 cut-like homeobox 2 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar NCBI chr12:40,168,402...40,368,303
Ensembl chr12:34,520,959...34,705,806 		JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16835697 NCBI chr 7:115,762,662...115,771,832
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:27108799 PMID:28087732 PMID:28492532 PMID:29694806 More... NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr18:28,380,337...28,390,220
Ensembl chr18:28,105,760...28,116,441 		JBrowse link
G Kcna1 potassium voltage-gated channel subfamily A member 1 IAGP RGD PMID:22206926 RGD:10047237 NCBI chr 4:161,150,378...161,160,051
Ensembl chr 4:159,464,188...159,472,682 		JBrowse link
G Kcna1Adms potassium voltage-gated channel subfamily A member 1;autosomal dominant myokymia and seizures IAGP RGD PMID:22206926 RGD:10047237
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP protein:decreased expression:dorsal plus ventral thalamus, cerebral cortex, astrocyte projection RGD PMID:23603404 RGD:8662897 NCBI chr13:87,334,510...87,367,747
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 IMP RGD PMID:30813600 RGD:14995940 NCBI chr 1:236,043,269...236,084,617
Ensembl chr 1:236,042,954...236,084,616 		JBrowse link
G Lgi1m1Kyo leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo IMP RGD PMID:30813600 RGD:14995940
G Lig1 DNA ligase 1 IMP RGD PMID:30813600 RGD:14995940 NCBI chr 1:83,243,043...83,281,707
Ensembl chr 1:74,165,842...74,204,413 		JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nefh neurofilament heavy chain ISO protein:increased expression:cerebral spinal fluid RGD PMID:22509781 RGD:7257648 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351 		JBrowse link
G Nes nestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16137769 NCBI chr 2:175,735,715...175,745,631
Ensembl chr 2:173,438,734...173,447,777 		JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Ntf3 neurotrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:158,914,957...158,984,596 		JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:4988877 PMID:6407273 NCBI chr 3:138,235,754...138,236,594
Ensembl chr 3:117,782,650...117,783,490 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr  X:101,061,002...101,166,777
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4371370 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 More... NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G Slc25a24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr 2:196,761,076...196,799,236
Ensembl chr 2:196,761,274...196,799,231 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Epilepsy with generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:33299146 NCBI chr 3:144,494,579...144,576,449
Ensembl chr 3:124,041,898...124,123,760 		JBrowse link
G Sptan1 spectrin, alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:33,639,020...33,703,890
Ensembl chr 3:13,241,217...13,306,046 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    syndrome 11406
      electroclinical syndrome 1522
        absence epilepsy 255
          adolescence-adult electroclinical syndrome 141
            epilepsy with generalized tonic-clonic seizures 32
              Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures 0
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        central nervous system disease 12646
          brain disease 11866
            epilepsy 2941
              electroclinical syndrome 1522
                absence epilepsy 255
                  adolescence-adult electroclinical syndrome 141
                    epilepsy with generalized tonic-clonic seizures 32
                      Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures 0
paths to the root