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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.


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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 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748 		JBrowse link
G Bdnf brain derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352 		JBrowse link
G Cux2 cut-like homeobox 2 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar NCBI chr 5:121,996,025...122,188,522
Ensembl chr 5:121,994,429...122,188,165 		JBrowse link
G Cyp2d22 cytochrome P450, family 2, subfamily d, polypeptide 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16835697 NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), 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 4:155,575,514...155,643,726
Ensembl chr 4:155,575,818...155,643,726 		JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr18:36,637,980...36,648,858
Ensembl chr18:36,637,980...36,648,858 		JBrowse link
G Kcna1 potassium voltage-gated channel, shaker-related subfamily, member 1 ISO RGD PMID:22206926 RGD:10047237 NCBI chr 6:126,613,426...126,622,764
Ensembl chr 6:126,617,360...126,623,347 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO protein:decreased expression:dorsal plus ventral thalamus, cerebral cortex, astrocyte projection RGD PMID:23603404 RGD:8662897 NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652 		JBrowse link
G Lgi1 leucine-rich repeat LGI family, member 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr19:38,253,135...38,297,387
Ensembl chr19:38,252,984...38,300,662 		JBrowse link
G Lig1 ligase I, DNA, ATP-dependent ISO RGD PMID:30813600 RGD:14995940 NCBI chr 7:13,011,101...13,045,351
Ensembl chr 7:13,011,239...13,045,350 		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 2:48,839,511...49,209,702
Ensembl chr 2:48,839,520...49,215,417 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Nefh neurofilament, heavy polypeptide ISO protein:increased expression:cerebral spinal fluid RGD PMID:22509781 RGD:7257648 NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064 		JBrowse link
G Nes nestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16137769 NCBI chr 3:87,878,400...87,887,758
Ensembl chr 3:87,878,385...87,887,758 		JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329 		JBrowse link
G Ntf3 neurotrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 6:126,078,375...126,143,703
Ensembl chr 6:126,078,375...126,143,873 		JBrowse link
G Oxt oxytocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4988877 PMID:6407273 NCBI chr 2:130,416,432...130,418,974
Ensembl chr 2:130,418,093...130,418,974 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr  X:132,483,609...132,589,802
Ensembl chr  X:132,483,609...132,589,736 		JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:4371370 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642 		JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 More... NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184 		JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819 		JBrowse link
G Slc25a24 solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 24 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr 3:109,030,465...109,075,725
Ensembl chr 3:109,030,465...109,075,773 		JBrowse link
G Snap25 synaptosomal-associated protein 25 ISO ClinVar Annotator: match by term: Epilepsy with generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:33299146 NCBI chr 2:136,555,359...136,624,348
Ensembl chr 2:136,555,373...136,624,348 		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 2:29,855,572...29,921,463
Ensembl chr 2:29,855,572...29,921,463 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16273
    syndrome 10909
      electroclinical syndrome 1527
        absence epilepsy 239
          adolescence-adult electroclinical syndrome 134
            epilepsy with generalized tonic-clonic seizures 25
              Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures 0
Path 2
Term Annotations click to browse term
  disease 16273
    disease of anatomical entity 15865
      nervous system disease 13800
        central nervous system disease 12326
          brain disease 11569
            epilepsy 2945
              electroclinical syndrome 1527
                absence epilepsy 239
                  adolescence-adult electroclinical syndrome 134
                    epilepsy with generalized tonic-clonic seizures 25
                      Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures 0
paths to the root