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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:familial adult myoclonic epilepsy 5
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Accession:DOID:0111691 term browser browse the term
Definition:A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1. (DO)
Synonyms:exact_synonym: FAME5;   FCMTE5;   familial cortical myoclonic tremor and epilepsy 5;   familial cortical myoclonic tremor with epilepsy 5
 primary_id: OMIM:615400

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show annotations for term's descendants           Sort by:
familial adult myoclonic epilepsy 5 term browser
Symbol Object Name 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 chrNW_004955406:38,939,167...38,955,647
Ensembl chrNW_004955406:38,936,588...38,955,352 		JBrowse link
G Adora1 adenosine A1 receptor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,148,811...39,183,577
Ensembl chrNW_004955406:39,149,689...39,187,688 		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 chrNW_004955406:38,223,115...38,226,563
Ensembl chrNW_004955406:38,224,124...38,226,542 		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 chrNW_004955406:37,264,753...37,265,337 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 chrNW_004955406:39,552,034...39,645,694
Ensembl chrNW_004955406:39,552,019...39,645,694 		JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,706,088...41,716,173
Ensembl chrNW_004955406:41,705,305...41,716,173 		JBrowse link
G Btg2 BTG anti-proliferation factor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,303,221...39,307,308
Ensembl chrNW_004955406:39,303,175...39,308,778 		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 chrNW_004955406:37,201,180...37,263,328
Ensembl chrNW_004955406:37,201,180...37,263,371 		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 chrNW_004955406:36,958,337...37,055,748
Ensembl chrNW_004955406:36,957,523...37,055,748 		JBrowse link
G Cdk18 cyclin dependent kinase 18 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,228,802...41,256,413
Ensembl chrNW_004955406:41,228,678...41,252,543 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,195,101...39,201,808
Ensembl chrNW_004955406:39,191,073...39,202,020 		JBrowse link
G Chit1 chitinase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,229,161...39,253,328
Ensembl chrNW_004955406:39,229,356...39,241,540 		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 chrNW_004955406:40,831,897...40,862,445
Ensembl chrNW_004955406:40,831,850...40,858,569 		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 chrNW_004955406:37,595,481...37,615,384
Ensembl chrNW_004955406:37,595,420...37,615,612 		JBrowse link
G Ctse cathepsin E ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,641,412...41,653,261
Ensembl chrNW_004955406:41,641,311...41,653,296 		JBrowse link
G Ddx59 DEAD-box helicase 59 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:36,861,420...36,885,746
Ensembl chrNW_004955406:36,861,259...36,885,746 		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 chrNW_004955406:40,922,972...40,971,433
Ensembl chrNW_004955406:40,922,972...40,971,582 		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 chrNW_004955406:42,190,043...42,199,323
Ensembl chrNW_004955406:42,190,043...42,199,730 		JBrowse link
G Eif2d eukaryotic translation initiation factor 2D ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:42,163,508...42,181,482
Ensembl chrNW_004955406:42,163,632...42,181,337 		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 chrNW_004955406:38,126,633...38,131,292
Ensembl chrNW_004955406:38,126,349...38,132,123 		JBrowse link
G Elk4 ETS transcription factor ELK4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,325,921...41,333,503
Ensembl chrNW_004955406:41,325,921...41,334,359 		JBrowse link
G Etnk2 ethanolamine kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,996,850...40,013,753
Ensembl chrNW_004955406:39,996,850...40,013,753 		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 chrNW_004955406:41,788,278...41,801,141 JBrowse link
G Fmod fibromodulin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,328,743...39,340,113
Ensembl chrNW_004955406:39,328,743...39,340,258 		JBrowse link
G Golt1a golgi transport 1A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,049,060...40,061,902
Ensembl chrNW_004955406:40,050,069...40,053,369 		JBrowse link
G Gpr25 G protein-coupled receptor 25 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,065,511...37,066,771
Ensembl chrNW_004955406:37,065,610...37,066,674 		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 chrNW_004955406:38,214,490...38,223,281
Ensembl chrNW_004955406:38,214,423...38,223,281 		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 chrNW_004955406:37,332,936...37,363,694 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 chrNW_004955406:42,056,014...42,077,701
Ensembl chrNW_004955406:42,056,014...42,077,701 		JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779 		JBrowse link
G Inava innate immunity activator ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,086,302...37,107,221
Ensembl chrNW_004955406:37,086,302...37,107,221 		JBrowse link
G Ipo9 importin 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,898,415...37,946,991
Ensembl chrNW_004955406:37,897,864...37,946,991 		JBrowse link
G Kdm5b lysine demethylase 5B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,755,220...38,823,094
Ensembl chrNW_004955406:38,755,220...38,823,088 		JBrowse link
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:36,732,135...36,791,756
Ensembl chrNW_004955406:36,737,484...36,791,756 		JBrowse link
G Kif21b kinesin family member 21B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,139,168...37,187,543
Ensembl chrNW_004955406:37,139,168...37,187,543 		JBrowse link
G Kiss1 KiSS-1 metastasis suppressor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,043,139...40,045,973
Ensembl chrNW_004955406:40,043,133...40,045,386 		JBrowse link
G Klhdc8a kelch domain containing 8A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,080,154...41,087,381
Ensembl chrNW_004955406:41,077,925...41,087,574 		JBrowse link
G Klhl12 kelch like family member 12 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,903,233...38,931,756
Ensembl chrNW_004955406:38,900,022...38,931,374 		JBrowse link
G Lad1 ladinin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,510,675...37,526,178
Ensembl chrNW_004955406:37,510,298...37,526,225 		JBrowse link
G Lax1 lymphocyte transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,656,549...39,667,448
Ensembl chrNW_004955406:39,656,128...39,670,244 		JBrowse link
G Lemd1 LEM domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,126,284...41,181,007
Ensembl chrNW_004955406:41,126,359...41,153,742 		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 chrNW_004955406:38,274,998...38,381,677
Ensembl chrNW_004955406:38,274,958...38,383,822 		JBrowse link
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,967,098...38,012,908
Ensembl chrNW_004955406:37,964,643...38,013,405 		JBrowse link
G LOC102004351 NADH-cytochrome b5 reductase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,958,766...38,964,597
Ensembl chrNW_004955406:38,955,997...38,965,127 		JBrowse link
G Lrrn2 leucine rich repeat neuronal 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,442,680...40,499,945 JBrowse link
G Mapkapk2 MAPK activated protein kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:42,231,858...42,276,477
Ensembl chrNW_004955406:42,231,858...42,276,477 		JBrowse link
G Mdm4 MDM4 regulator of p53 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,346,617...40,387,977
Ensembl chrNW_004955406:40,346,588...40,387,977 		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 chrNW_004955406:41,286,679...41,315,666
Ensembl chrNW_004955406:41,286,679...41,322,158 		JBrowse link
G Mybph myosin binding protein H ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,174,864...39,191,969
Ensembl chrNW_004955406:39,184,691...39,191,741 		JBrowse link
G Myog myogenin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,099,044...39,102,479
Ensembl chrNW_004955406:39,099,716...39,102,501 		JBrowse link
G Nav1 neuron navigator 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,644,715...37,896,759
Ensembl chrNW_004955406:37,644,421...37,890,151 		JBrowse link
G Nfasc neurofascin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,632,971...40,814,930
Ensembl chrNW_004955406:40,743,872...40,808,962 		JBrowse link
G Nuak2 NUAK family kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,050,396...41,069,066
Ensembl chrNW_004955406:41,051,419...41,069,066 		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 chrNW_004955406:41,412,855...41,448,551
Ensembl chrNW_004955406:41,417,983...41,449,177 		JBrowse link
G Optc opticin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,446,875...39,458,571
Ensembl chrNW_004955406:39,445,677...39,453,906 		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 chrNW_004955406:37,579,006...37,582,230
Ensembl chrNW_004955406:37,579,006...37,582,230 		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 chrNW_004955406:40,247,690...40,317,556
Ensembl chrNW_004955406:40,247,382...40,317,556 		JBrowse link
G Pkp1 plakophilin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,420,019...37,465,588
Ensembl chrNW_004955406:37,419,856...37,465,655 		JBrowse link
G Plekha6 pleckstrin homology domain containing A6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,066,260...40,200,629
Ensembl chrNW_004955406:40,066,206...40,134,597 		JBrowse link
G Pm20d1 peptidase M20 domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,522,800...41,544,332
Ensembl chrNW_004955406:41,518,526...41,544,348 		JBrowse link
G Ppfia4 PTPRF interacting protein alpha 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,047,069...39,094,663
Ensembl chrNW_004955406:39,047,019...39,092,597 		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 chrNW_004955406:38,405,297...38,636,503
Ensembl chrNW_004955406:38,405,535...38,629,688 		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 chrNW_004955406:40,232,516...40,238,711
Ensembl chrNW_004955406:40,232,607...40,238,901 		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 chrNW_004955406:39,429,845...39,442,577
Ensembl chrNW_004955406:39,429,690...39,443,299 		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 chrNW_004955406:38,233,409...38,249,940
Ensembl chrNW_004955406:38,232,589...38,250,195 		JBrowse link
G Rab29 RAB29, member RAS oncogene family ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,452,733...41,468,467
Ensembl chrNW_004955406:41,462,534...41,468,948 		JBrowse link
G Rabif RAB interacting factor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,883,050...38,893,012
Ensembl chrNW_004955406:38,883,050...38,893,251 		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 chrNW_004955406:42,086,081...42,159,204
Ensembl chrNW_004955406:42,086,081...42,159,204 		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 chrNW_004955406:40,868,290...40,904,343
Ensembl chrNW_004955406:40,867,527...40,904,349 		JBrowse link
G Ren renin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286 		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 chrNW_004955406:41,687,577...41,703,282
Ensembl chrNW_004955406:41,687,455...41,705,014 		JBrowse link
G Rnpep arginyl aminopeptidase ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,103,701...38,122,162
Ensembl chrNW_004955406:38,103,426...38,122,358 		JBrowse link
G Shisa4 shisa family member 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,959,156...37,961,972
Ensembl chrNW_004955406:37,957,326...37,962,468 		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 chrNW_004955406:41,559,424...41,587,748
Ensembl chrNW_004955406:41,557,275...41,582,753 		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 chrNW_004955406:41,481,831...41,502,992
Ensembl chrNW_004955406:41,481,831...41,502,992 		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 chrNW_004955406:41,362,077...41,381,981
Ensembl chrNW_004955406:41,360,380...41,382,115 		JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,725,841...39,732,527
Ensembl chrNW_004955406:39,725,446...39,734,586 		JBrowse link
G Sox13 SRY-box transcription factor 13 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,959,458...39,994,214
Ensembl chrNW_004955406:39,966,055...39,994,214 		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 chrNW_004955406:41,801,235...42,050,731
Ensembl chrNW_004955406:41,801,235...42,050,731 		JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,638,192...38,743,077
Ensembl chrNW_004955406:38,643,911...38,743,222 		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 chrNW_004955406:38,020,886...38,031,651
Ensembl chrNW_004955406:38,020,850...38,031,651 		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 chrNW_004955406:40,985,771...41,025,929
Ensembl chrNW_004955406:40,985,478...41,025,955 		JBrowse link
G Tmem183a transmembrane protein 183A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,029,390...39,044,502
Ensembl chrNW_004955406:39,029,390...39,046,339 		JBrowse link
G Tmem81 transmembrane protein 81 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,865,574...40,867,602 JBrowse link
G Tmem9 transmembrane protein 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,279,885...37,299,196
Ensembl chrNW_004955406:37,279,694...37,314,251 		JBrowse link
G Tnni1 troponin I1, slow skeletal type ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,535,397...37,554,868
Ensembl chrNW_004955406:37,534,453...37,554,868 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,491,462...37,507,360
Ensembl chrNW_004955406:37,487,154...37,507,639 		JBrowse link
G Ube2t ubiquitin conjugating enzyme E2 T ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,391,824...38,400,946
Ensembl chrNW_004955406:38,391,785...38,400,995 		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 chrNW_004955406:39,679,365...39,683,454
Ensembl chrNW_004955406:39,680,253...39,683,192 		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 chrNW_004955406:39,678,544...39,718,062 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14206
    syndrome 9376
      electroclinical syndrome 1242
        absence epilepsy 228
          adolescence-adult electroclinical syndrome 130
            familial adult myoclonic epilepsy 97
              familial adult myoclonic epilepsy 5 90
Path 2
Term Annotations click to browse term
  disease 14206
    disease of anatomical entity 13864
      nervous system disease 12142
        central nervous system disease 10886
          brain disease 10219
            movement disease 2347
              Dyskinesias 2010
                Myoclonus 360
                  Myoclonic Epilepsies 353
                    familial adult myoclonic epilepsy 97
                      familial adult myoclonic epilepsy 5 90
paths to the root