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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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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 chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241 		JBrowse link
G Adora1 adenosine A1 receptor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801 		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 chr13:46,585,845...46,594,851
Ensembl chr13:46,585,845...46,594,851 		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 chr13:47,491,799...47,493,269
Ensembl chr13:47,492,026...47,492,592 		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 chr13:45,156,137...45,255,292
Ensembl chr13:45,156,146...45,255,246 		JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,046,531...43,059,046
Ensembl chr13:43,046,267...43,057,792 		JBrowse link
G Btg2 BTG anti-proliferation factor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,531,881...45,535,642
Ensembl chr13:45,531,925...45,535,628 		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 chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318 		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 chr13:47,723,251...47,802,606
Ensembl chr13:47,723,121...47,802,597 		JBrowse link
G Cdk18 cyclin-dependent kinase 18 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,555,597...43,582,210
Ensembl chr13:43,556,748...43,588,525 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Chit1 chitinase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,565,841...45,613,593
Ensembl chr13:45,593,845...45,613,592 		JBrowse link
G Cntn2 contactin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11178983 PMID:16199547 PMID:17576681 PMID:23518707 More... NCBI chr13:43,942,868...43,975,973
Ensembl chr13:43,947,265...43,975,887 		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 chr13:47,158,171...47,179,388
Ensembl chr13:47,167,789...47,179,384 		JBrowse link
G Ctse cathepsin E ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,091,954...43,114,509
Ensembl chr13:43,092,128...43,114,502 		JBrowse link
G Cyb5r1 cytochrome b5 reductase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,849,017...45,855,458
Ensembl chr13:45,849,091...45,855,458 		JBrowse link
G Ddx59 DEAD-box helicase 59 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,876,258...47,901,214
Ensembl chr13:47,876,261...47,901,214 		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 chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269 		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 chr13:42,594,120...42,604,898
Ensembl chr13:42,594,121...42,604,778 		JBrowse link
G Eif2d eukaryotic translation initiation factor 2D ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:42,615,901...42,637,107
Ensembl chr13:42,615,911...42,639,719 		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 chr13:46,690,460...46,695,394
Ensembl chr13:46,690,466...46,695,481 		JBrowse link
G Elk4 ETS transcription factor ELK4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,451,130...43,475,035
Ensembl chr13:43,435,843...43,475,035 		JBrowse link
G Etnk2 ethanolamine kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:44,811,012...44,829,052
Ensembl chr13:44,811,015...44,829,037 		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 chr13:42,967,701...42,979,083
Ensembl chr13:42,967,578...42,984,208 		JBrowse link
G Fmod fibromodulin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,493,517...45,504,134
Ensembl chr13:45,493,517...45,504,133 		JBrowse link
G Golt1a golgi transport 1A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:44,760,356...44,773,123
Ensembl chr13:44,760,380...44,773,122 		JBrowse link
G Gpr25 G protein-coupled receptor 25 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,712,815...47,714,721
Ensembl chr13:47,713,592...47,714,671 		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 chr13:46,598,574...46,605,421
Ensembl chr13:46,598,578...46,605,421 		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 chr13:47,395,618...47,427,506
Ensembl chr13:47,395,595...47,437,879 		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 chr13:42,712,154...42,738,470
Ensembl chr13:42,712,159...42,737,143 		JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Inava innate immunity activator ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,666,446...47,687,383
Ensembl chr13:47,666,447...47,686,729 		JBrowse link
G Ipo9 importin 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,810,460...46,862,694
Ensembl chr13:46,813,171...46,862,673 		JBrowse link
G Kdm5b lysine demethylase 5B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872 		JBrowse link
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164 		JBrowse link
G Kif21b kinesin family member 21B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,576,129...47,626,112
Ensembl chr13:47,576,160...47,626,127 		JBrowse link
G Kiss1 KiSS-1 metastasis-suppressor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612 		JBrowse link
G Klhdc8a kelch domain containing 8A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,735,702...43,744,277
Ensembl chr13:43,736,192...43,744,277 		JBrowse link
G Klhl12 kelch-like family member 12 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,899,913...45,933,648
Ensembl chr13:45,899,928...45,933,643 		JBrowse link
G Lad1 ladinin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,249,605...47,263,967
Ensembl chr13:47,249,605...47,263,967 		JBrowse link
G Lax1 lymphocyte transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,134,825...45,145,381
Ensembl chr13:45,134,834...45,145,381 		JBrowse link
G Lemd1 LEM domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,631,705...43,697,765
Ensembl chr13:43,665,926...43,697,948 		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 chr13:46,424,382...46,544,074
Ensembl chr13:46,424,383...46,543,945 		JBrowse link
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,754,048...46,796,186
Ensembl chr13:46,754,033...46,794,900 		JBrowse link
G Lrrn2 leucine rich repeat neuronal 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:44,321,944...44,382,454
Ensembl chr13:44,321,364...44,382,482 		JBrowse link
G Mapkapk2 MAPK activated protein kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:42,513,762...42,560,061
Ensembl chr13:42,513,762...42,560,457 		JBrowse link
G Mdm4 MDM4 regulator of p53 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226 		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 chr13:43,469,488...43,510,467
Ensembl chr13:43,469,488...43,510,467 		JBrowse link
G Mybph myosin binding protein H ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,653,156...45,660,893
Ensembl chr13:45,653,234...45,660,893 		JBrowse link
G Myog myogenin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,745,455...45,748,044
Ensembl chr13:45,745,436...45,748,039 		JBrowse link
G Nav1 neuron navigator 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,866,972...47,119,368
Ensembl chr13:46,873,689...47,126,449 		JBrowse link
G Nfasc neurofascin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,997,223...44,183,863
Ensembl chr13:43,997,224...44,183,880 		JBrowse link
G Nuak2 NUAK family kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,753,454...43,770,604
Ensembl chr13:43,753,832...43,770,604 		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 chr13:43,345,091...43,374,316
Ensembl chr13:43,345,115...43,370,229 		JBrowse link
G Optc opticin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,353,954...45,368,254
Ensembl chr13:45,355,148...45,365,237 		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 chr13:47,193,250...47,196,335
Ensembl chr13:47,193,086...47,196,335 		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 chr13:44,494,673...44,555,663
Ensembl chr13:44,495,050...44,555,612 		JBrowse link
G Pkp1 plakophilin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,309,607...47,357,432
Ensembl chr13:47,309,614...47,357,465 		JBrowse link
G Plekha6 pleckstrin homology domain containing A6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:44,614,740...44,754,951
Ensembl chr13:44,615,011...44,754,673 		JBrowse link
G Pm20d1 peptidase M20 domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,237,954...43,259,999
Ensembl chr13:43,237,971...43,259,999 		JBrowse link
G Ppfia4 PTPRF interacting protein alpha 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,753,827...45,802,305
Ensembl chr13:45,753,827...45,802,261 		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 chr13:46,199,418...46,397,108
Ensembl chr13:46,201,251...46,397,108 		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 chr13:44,577,840...44,585,737
Ensembl chr13:44,577,932...44,585,737 		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 chr13:45,368,407...45,391,480
Ensembl chr13:45,370,533...45,380,270 		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 chr13:46,570,904...46,584,048
Ensembl chr13:46,571,712...46,583,308 		JBrowse link
G Rab29 RAB29, member RAS oncogene family ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,307,757...43,313,420
Ensembl chr13:43,307,775...43,313,417 		JBrowse link
G Rabif RAB interacting factor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,936,371...45,948,929
Ensembl chr13:45,936,369...45,949,775 		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 chr13:42,637,513...42,703,024
Ensembl chr13:42,637,549...42,703,024 		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 chr13:43,912,254...43,939,107
Ensembl chr13:43,912,254...43,939,107 		JBrowse link
G Ren renin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
G Rnpep arginyl aminopeptidase ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,699,458...46,717,829
Ensembl chr13:46,699,463...46,717,998 		JBrowse link
G Shisa4 shisa family member 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,799,735...46,803,816
Ensembl chr13:46,799,772...46,803,998 		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 chr13:43,177,806...43,205,450
Ensembl chr13:43,177,867...43,204,330 		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 chr13:43,270,792...43,291,162
Ensembl chr13:43,270,792...43,291,162 		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 chr13:43,407,293...43,427,588
Ensembl chr13:43,407,293...43,427,588 		JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
Ensembl chr 8:45,050,986...45,057,310 		JBrowse link
G Sox13 SRY-box transcription factor 13 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:44,831,097...44,875,522
Ensembl chr13:44,831,085...44,875,762 		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 chr13:42,745,956...42,967,091
Ensembl chr13:42,745,947...42,967,058 		JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,088,046...46,197,976
Ensembl chr13:46,185,282...46,193,859 		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 chr13:46,731,117...46,742,604
Ensembl chr13:46,730,660...46,742,655 		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 chr13:43,794,029...43,831,716
Ensembl chr13:43,794,029...43,831,716 		JBrowse link
G Tmem183a transmembrane protein 183A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,803,641...45,820,409
Ensembl chr13:45,803,639...45,820,375 		JBrowse link
G Tmem81 transmembrane protein 81 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,939,677...43,942,108
Ensembl chr13:43,939,630...43,942,113 		JBrowse link
G Tmem9 transmembrane protein 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,458,486...47,475,832
Ensembl chr13:47,458,498...47,475,832 		JBrowse link
G Tnni1 troponin I1, slow skeletal type ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,229,217...47,241,640
Ensembl chr13:47,229,216...47,241,644 		JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388 		JBrowse link
G Ube2t ubiquitin-conjugating enzyme E2T ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,403,352...46,413,854
Ensembl chr13:46,403,375...46,414,835 		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 chr13:45,107,253...45,113,524
Ensembl chr13:45,071,718...45,114,009 		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 chr13:45,073,422...45,113,901
Ensembl chr13:45,071,718...45,114,009 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      electroclinical syndrome 1357
        absence epilepsy 247
          adolescence-adult electroclinical syndrome 136
            familial adult myoclonic epilepsy 96
              familial adult myoclonic epilepsy 5 89
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            movement disease 2584
              Dyskinesias 2197
                Myoclonus 380
                  Myoclonic Epilepsies 373
                    familial adult myoclonic epilepsy 96
                      familial adult myoclonic epilepsy 5 89
paths to the root