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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:adolescence-adult electroclinical syndrome
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Accession:DOID:0050705 term browser browse the term
Definition:An electroclinical syndrome with onset in adolescence and adulthood. (DO)
Synonyms:primary_id: RDO:9002464


show annotations for term's descendants           Sort by:
epilepsy with generalized tonic-clonic seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15121994 NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481 		JBrowse link
G BDNF brain derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239 		JBrowse link
G CUX2 cut like homeobox 2 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar NCBI chr12:108,600,286...108,975,588
Ensembl chr12:112,175,555...112,311,221 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942 		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:29694806 PMID:30194818 More... NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614 		JBrowse link
G HBEGF heparin binding EGF like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 5:135,699,553...135,713,366
Ensembl chr 5:141,816,402...141,830,531 		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 1:135,391,321...135,424,100 JBrowse link
G LGI1 leucine rich glioma inactivated 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr10:90,506,131...90,546,582
Ensembl chr10:94,016,703...94,056,820 		JBrowse link
G LIG1 DNA ligase 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr19:45,056,737...45,110,867
Ensembl chr19:53,706,778...53,761,088 		JBrowse link
G LOC100988273 cytochrome P450 2D6-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:16835697 NCBI chr22:23,022,449...23,031,627 JBrowse link
G LOC100990756 mitochondrial adenyl nucleotide antiporter SLC25A24 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr 1:110,672,168...110,736,204
Ensembl chr 1:109,786,563...109,850,397 		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 chr2B:11,347,218...11,842,644
Ensembl chr2B:152,754,368...152,874,042 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G NES nestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16137769 NCBI chr 1:132,012,273...132,020,907
Ensembl chr 1:135,835,456...135,844,094 		JBrowse link
G NGF nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 1:87,223,597...87,276,759 JBrowse link
G NTF3 neurotrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr12:5,551,734...5,615,981
Ensembl chr12:5,530,508...5,533,989 		JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:4988877 PMID:6407273 NCBI chr20:3,157,246...3,159,013 JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr  X:89,504,404...89,622,354
Ensembl chr  X:99,643,595...99,759,631 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4371370 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706 		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 chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014 		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 chr12:36,950,057...37,172,235
Ensembl chr12:37,730,900...37,876,357 		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 chr20:10,164,236...10,252,856
Ensembl chr20:10,218,358...10,252,841 		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 9:99,674,819...99,755,973
Ensembl chr 9:128,341,739...128,422,971 		JBrowse link
familial adult myoclonic epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SAMD12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1 OMIM
ClinVar		 NCBI chr 8:114,823,792...115,312,738 JBrowse link
familial adult myoclonic epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRA2B adrenoceptor alpha 2B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 ClinVar PMID:25741868 NCBI chr2A:103,198,432...103,202,506
Ensembl chr2A:97,040,126...97,041,472 		JBrowse link
G STARD7 StAR related lipid transfer domain containing 7 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 OMIM
ClinVar		 PMID:25741868 NCBI chr2A:103,106,863...103,130,490
Ensembl chr2A:97,111,420...97,132,081 		JBrowse link
familial adult myoclonic epilepsy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARCHF6 membrane associated ring-CH-type finger 6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3 OMIM
ClinVar		 NCBI chr 5:10,666,978...10,753,050
Ensembl chr 5:10,524,958...10,608,046 		JBrowse link
familial adult myoclonic epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G YEATS2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 3:180,736,213...180,847,545
Ensembl chr 3:188,903,615...189,016,942 		JBrowse link
familial adult myoclonic epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOR1 adiponectin receptor 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:178,542,496...178,560,055
Ensembl chr 1:182,837,589...182,854,782 		JBrowse link
G ADORA1 adenosine A1 receptor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:178,728,751...178,769,066
Ensembl chr 1:183,023,466...183,063,760 		JBrowse link
G ARL8A ADP ribosylation factor like GTPase 8A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:177,731,381...177,742,688
Ensembl chr 1:182,033,376...182,045,145 		JBrowse link
G ASCL5 achaete-scute family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:176,713,717...176,726,991 JBrowse link
G ATP2B4 ATPase plasma membrane Ca2+ transporting 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:179,231,712...179,348,759
Ensembl chr 1:183,580,773...183,639,882 		JBrowse link
G AVPR1B arginine vasopressin receptor 1B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:181,713,548...181,723,645
Ensembl chr 1:185,999,627...186,007,043 		JBrowse link
G BTG2 BTG anti-proliferation factor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:178,907,317...178,911,410
Ensembl chr 1:183,201,297...183,205,404 		JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:176,639,189...176,712,171
Ensembl chr 1:180,941,836...181,014,823 		JBrowse link
G CAMSAP2 calmodulin regulated spectrin associated protein family member 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:176,339,766...176,460,808
Ensembl chr 1:180,644,200...180,764,136 		JBrowse link
G CDK18 cyclin dependent kinase 18 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:181,113,560...181,141,758
Ensembl chr 1:185,399,162...185,427,631 		JBrowse link
G CHI3L1 chitinase 3 like 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229 		JBrowse link
G CHIT1 chitinase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:178,816,396...178,875,895 JBrowse link
G CNTN2 contactin 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 OMIM
ClinVar		 PMID:9536098 PMID:11178983 PMID:16199547 PMID:17576681 PMID:23518707 More... NCBI chr 1:180,645,259...180,680,081
Ensembl chr 1:184,931,497...184,966,482 		JBrowse link
G CSRP1 cysteine and glycine rich protein 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:177,081,772...177,105,448
Ensembl chr 1:181,382,994...181,406,863 		JBrowse link
G CTSE cathepsin E ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:181,617,421...181,632,260
Ensembl chr 1:185,900,746...185,915,519 		JBrowse link
G DDX59 DEAD-box helicase 59 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:176,227,065...176,270,421
Ensembl chr 1:180,532,445...180,571,460 		JBrowse link
G DSTYK dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:180,750,987...180,820,096
Ensembl chr 1:185,041,994...185,107,041 		JBrowse link
G DYRK3 dual specificity tyrosine phosphorylation regulated kinase 3 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:182,237,556...182,255,984
Ensembl chr 1:186,517,041...186,530,272 		JBrowse link
G EIF2D eukaryotic translation initiation factor 2D ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:182,193,709...182,214,981
Ensembl chr 1:186,473,496...186,494,896 		JBrowse link
G ELF3 E74 like ETS transcription factor 3 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:177,607,265...177,613,234
Ensembl chr 1:181,908,747...181,915,354 		JBrowse link
G ELK4 ETS transcription factor ELK4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:181,216,587...181,242,023
Ensembl chr 1:185,509,937...185,518,452 		JBrowse link
G ETNK2 ethanolamine kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:179,733,953...179,754,899
Ensembl chr 1:184,021,504...184,042,946 		JBrowse link
G FAM72A family with sequence similarity 72 member A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:181,792,764...181,811,141 JBrowse link
G FMOD fibromodulin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:178,942,472...178,953,158
Ensembl chr 1:183,238,130...183,244,074 		JBrowse link
G GOLT1A golgi transport 1A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:179,800,580...179,816,530
Ensembl chr 1:184,080,570...184,104,815
Ensembl chr 1:184,080,570...184,104,815 		JBrowse link
G GPR25 G protein-coupled receptor 25 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:176,473,049...176,474,934
Ensembl chr 1:180,776,181...180,777,215 		JBrowse link
G GPR37L1 G protein-coupled receptor 37 like 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:177,720,832...177,731,551
Ensembl chr 1:182,022,600...182,028,623 		JBrowse link
G IGFN1 immunoglobulin like and fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:176,792,309...176,828,813 JBrowse link
G IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:182,070,565...182,096,797
Ensembl chr 1:186,351,807...186,377,971 		JBrowse link
G IL10 interleukin 10 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
G INAVA innate immunity activator ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:176,491,264...176,514,719
Ensembl chr 1:180,794,646...180,818,853 		JBrowse link
G IPO9 importin 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:177,426,144...177,480,948
Ensembl chr 1:181,727,697...181,775,242 		JBrowse link
G KDM5B lysine demethylase 5B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:178,323,073...178,406,608
Ensembl chr 1:182,622,425...182,702,994 		JBrowse link
G KIF14 kinesin family member 14 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:176,156,870...176,223,093
Ensembl chr 1:180,462,578...180,526,323 		JBrowse link
G KIF21B kinesin family member 21B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:176,569,305...176,623,403
Ensembl chr 1:180,872,306...180,925,725 		JBrowse link
G KISS1 KiSS-1 metastasis suppressor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532
G KLHDC8A kelch domain containing 8A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:180,944,827...180,965,141
Ensembl chr 1:185,232,882...185,239,077 		JBrowse link
G KLHL12 kelch like family member 12 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:178,490,467...178,527,919
Ensembl chr 1:182,785,420...182,821,965 		JBrowse link
G LAD1 ladinin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:176,979,109...176,997,837
Ensembl chr 1:181,281,294...181,298,732 		JBrowse link
G LAX1 lymphocyte transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:179,370,097...179,379,618
Ensembl chr 1:183,660,297...183,671,335 		JBrowse link
G LEMD1 LEM domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:180,989,459...181,064,139
Ensembl chr 1:185,272,595...185,349,976 		JBrowse link
G LGR6 leucine rich repeat containing G protein-coupled receptor 6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:177,789,079...177,917,234
Ensembl chr 1:182,101,420...182,214,825 		JBrowse link
G LMOD1 leiomodin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:177,493,627...177,543,853
Ensembl chr 1:181,798,304...181,845,295 		JBrowse link
G LOC100967245 NADH-cytochrome b5 reductase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:178,563,539...178,568,997
Ensembl chr 1:182,858,966...182,864,381 		JBrowse link
G LRRN2 leucine rich repeat neuronal 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:180,208,932...180,287,250
Ensembl chr 1:184,507,321...184,509,462 		JBrowse link
G MAPKAPK2 MAPK activated protein kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:182,286,854...182,336,306
Ensembl chr 1:186,608,158...186,613,911 		JBrowse link
G MDM4 MDM4 regulator of p53 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:180,117,364...180,151,144
Ensembl chr 1:184,406,124...184,439,344 		JBrowse link
G MFSD4A major facilitator superfamily domain containing 4A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:181,177,517...181,211,432
Ensembl chr 1:185,474,032...185,497,408 		JBrowse link
G MYBPH myosin binding protein H ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:178,769,183...178,777,737
Ensembl chr 1:183,065,021...183,072,188 		JBrowse link
G MYOG myogenin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:178,684,933...178,687,971
Ensembl chr 1:182,979,700...182,982,611 		JBrowse link
G NAV1 neuron navigator 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:177,136,609...177,424,075
Ensembl chr 1:181,547,017...181,718,626 		JBrowse link
G NFASC neurofascin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:180,430,523...180,624,953
Ensembl chr 1:184,759,115...184,905,467 		JBrowse link
G NUAK2 NUAK family kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:180,910,956...180,931,147
Ensembl chr 1:185,197,678...185,217,264 		JBrowse link
G NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:181,322,760...181,359,321
Ensembl chr 1:185,606,796...185,642,984 		JBrowse link
G OPTC opticin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:179,097,003...179,113,903
Ensembl chr 1:183,391,155...183,407,509 		JBrowse link
G PHLDA3 pleckstrin homology like domain family A member 3 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:177,063,775...177,067,714
Ensembl chr 1:181,367,976...181,368,359 		JBrowse link
G PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:180,024,889...180,096,287
Ensembl chr 1:184,313,233...184,384,454 		JBrowse link
G PKP1 plakophilin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:176,881,154...176,930,814
Ensembl chr 1:181,182,829...181,232,347 		JBrowse link
G PLEKHA6 pleckstrin homology domain containing A6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:179,821,249...179,980,149
Ensembl chr 1:184,109,553...184,164,492 		JBrowse link
G PM20D1 peptidase M20 domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:181,437,045...181,459,103
Ensembl chr 1:185,720,642...185,742,757 		JBrowse link
G PPFIA4 PTPRF interacting protein alpha 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:178,628,003...178,680,528
Ensembl chr 1:182,922,758...182,975,300 		JBrowse link
G PPP1R12B protein phosphatase 1 regulatory subunit 12B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:177,945,674...178,185,871
Ensembl chr 1:182,243,497...182,482,216 		JBrowse link
G PPP1R15B protein phosphatase 1 regulatory subunit 15B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:180,002,895...180,014,956
Ensembl chr 1:184,293,640...184,302,316 		JBrowse link
G PRELP proline and arginine rich end leucine rich repeat protein ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:179,077,892...179,092,796
Ensembl chr 1:183,372,028...183,386,619 		JBrowse link
G PTPN7 protein tyrosine phosphatase non-receptor type 7 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:177,744,963...177,759,611
Ensembl chr 1:182,049,084...182,061,151 		JBrowse link
G RAB29 RAB29, member RAS oncogene family ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:181,377,018...181,384,496
Ensembl chr 1:185,661,317...185,668,066 		JBrowse link
G RABIF RAB interacting factor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:178,479,806...178,488,599
Ensembl chr 1:182,774,480...182,783,647 		JBrowse link
G RASSF5 Ras association domain family member 5 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:182,107,396...182,191,346
Ensembl chr 1:186,388,571...186,471,134 		JBrowse link
G RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:180,688,220...180,724,087
Ensembl chr 1:184,974,254...185,010,065 		JBrowse link
G REN renin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393 		JBrowse link
G RHEX regulator of hemoglobinization and erythroid cell expansion ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:181,704,422...181,709,056
Ensembl chr 1:185,973,510...185,992,391 		JBrowse link
G RNPEP arginyl aminopeptidase ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:177,579,349...177,602,865
Ensembl chr 1:181,880,404...181,903,906 		JBrowse link
G SHISA4 shisa family member 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:177,485,825...177,489,458
Ensembl chr 1:181,787,839...181,791,472 		JBrowse link
G SLC26A9 solute carrier family 26 member 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:181,521,826...181,544,564
Ensembl chr 1:185,807,517...185,828,444 		JBrowse link
G SLC41A1 solute carrier family 41 member 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:181,398,145...181,422,830
Ensembl chr 1:185,681,822...185,705,844 		JBrowse link
G SLC45A3 solute carrier family 45 member 3 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:181,266,533...181,289,536
Ensembl chr 1:185,552,015...185,566,359 		JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:179,466,263...179,474,779
Ensembl chr 1:183,755,392...183,764,937 		JBrowse link
G SOX13 SRY-box transcription factor 13 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:179,675,017...179,730,628
Ensembl chr 1:184,003,907...184,016,504 		JBrowse link
G SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:181,808,318...182,064,583
Ensembl chr 1:186,092,113...186,346,019 		JBrowse link
G SYT2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:178,187,872...178,308,522
Ensembl chr 1:182,490,401...182,538,123 		JBrowse link
G TIMM17A translocase of inner mitochondrial membrane 17A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:177,552,399...177,567,148
Ensembl chr 1:181,854,412...181,868,960 		JBrowse link
G TMCC2 transmembrane and coiled-coil domain family 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:180,836,861...180,882,276
Ensembl chr 1:185,123,484...185,168,975 		JBrowse link
G TMEM183A transmembrane protein 183A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:178,608,896...178,626,376
Ensembl chr 1:182,903,898...182,919,283 		JBrowse link
G TMEM81 transmembrane protein 81 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:180,685,214...180,686,789
Ensembl chr 1:184,972,046...184,972,813 		JBrowse link
G TMEM9 transmembrane protein 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:176,734,640...176,771,476
Ensembl chr 1:181,037,050...181,056,841 		JBrowse link
G TNNI1 troponin I1, slow skeletal type ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:177,006,262...177,054,525
Ensembl chr 1:181,309,609...181,314,889 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:176,957,298...176,976,033 JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:177,929,298...177,939,027
Ensembl chr 1:182,227,166...182,236,712 		JBrowse link
G ZBED6 zinc finger BED-type containing 6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:179,400,520...179,405,501
Ensembl chr 1:183,691,160...183,694,099 		JBrowse link
G ZC3H11A zinc finger CCCH-type containing 11A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:179,399,533...179,458,811
Ensembl chr 1:183,710,919...183,746,214 		JBrowse link
familial adult myoclonic epilepsy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNRC6A trinucleotide repeat containing adaptor 6A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6 OMIM
ClinVar		 PMID:25741868 PMID:28492532 Ensembl chr16:24,966,474...25,064,998 JBrowse link
familial adult myoclonic epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAPGEF2 Rap guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7 OMIM
ClinVar		 PMID:25741868 PMID:25741909 NCBI chr 4:151,419,402...151,680,769
Ensembl chr 4:163,316,396...163,487,495 		JBrowse link
idiopathic generalized epilepsy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN2 chloride voltage-gated channel 2 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 11 ClinVar
OMIM		 PMID:1521363 PMID:12612585 PMID:15252188 PMID:15505175 PMID:16199547 More... NCBI chr 3:181,383,608...181,399,200
Ensembl chr 3:189,862,489...189,881,049 		JBrowse link
idiopathic generalized epilepsy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 ClinVar
OMIM		 PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 More... NCBI chr 5:157,234,725...157,287,475
Ensembl chr 5:163,928,392...163,981,117 		JBrowse link
idiopathic generalized epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EFHC1 EF-hand domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:51,972,041...52,044,219
Ensembl chr 6:53,239,474...53,344,404 		JBrowse link
G LOC100977072 neuronal acetylcholine receptor subunit alpha-7 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25326635 PMID:25741868 NCBI chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25741868 NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590 		JBrowse link
juvenile absence epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EFHC1 EF-hand domain containing 1 susceptibility ISO ClinVar Annotator: match by term: Epilepsy, juvenile absence, susceptibility to, 1 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 6:51,972,041...52,044,219
Ensembl chr 6:53,239,474...53,344,404 		JBrowse link
juvenile myoclonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRD2 bromodomain containing 2 ISO DNA:SNPs:promoter (human) RGD PMID:12830434 RGD:1358444 NCBI chr 6:32,538,130...32,550,823
Ensembl chr 6:33,657,648...33,666,031 		JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr17:44,654,558...44,786,037
Ensembl chr17:49,529,402...49,595,166 		JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: EJM1 | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr2B:39,137,777...39,399,007
Ensembl chr2B:156,379,469...156,639,328 		JBrowse link
G CAPRIN1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:25741868 PMID:35979925 NCBI chr11:34,023,981...34,079,335
Ensembl chr11:33,902,072...33,957,134 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:62,022,498...62,039,370
Ensembl chr2B:179,476,677...179,504,763 		JBrowse link
G EFHC1 EF-hand domain containing 1 susceptibility ISO ClinVar Annotator: match by term: EJM1 | ClinVar Annotator: match by term: Janz syndrome | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy | ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1 OMIM
ClinVar		 PMID:8737649 PMID:9536098 PMID:12439895 PMID:15258581 PMID:16199547 More... NCBI chr 6:51,972,041...52,044,219
Ensembl chr 6:53,239,474...53,344,404 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:25741868 NCBI chr 5:157,234,725...157,287,475
Ensembl chr 5:163,928,392...163,981,117 		JBrowse link
G JRK Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 8:139,362,543...139,382,226
Ensembl chr 8:142,413,460...142,426,103 		JBrowse link
juvenile myoclonic epilepsy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CILK1 ciliogenesis associated kinase 1 susceptibility ISO OMIM NCBI chr 6:52,556,272...52,617,199
Ensembl chr 6:54,198,594...54,255,435 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      electroclinical syndrome 1357
        absence epilepsy 234
          adolescence-adult electroclinical syndrome 132
            epilepsy with generalized tonic-clonic seizures + 23
            familial adult myoclonic epilepsy + 97
            juvenile absence epilepsy + 2
            juvenile myoclonic epilepsy + 12
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            epilepsy 2800
              electroclinical syndrome 1357
                absence epilepsy 234
                  adolescence-adult electroclinical syndrome 132
                    epilepsy with generalized tonic-clonic seizures + 23
                    familial adult myoclonic epilepsy + 97
                    juvenile absence epilepsy + 2
                    juvenile myoclonic epilepsy + 12
paths to the root