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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


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 chr 7:240,035...254,287
Ensembl chr 7:240,065...282,845 		JBrowse link
G ADORA1 adenosine A1 receptor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:44,819...74,217
Ensembl chr 7:44,820...73,051 		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 7:875,679...877,184 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 7:2,106,480...2,107,046 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 chr38:321,246...420,262
Ensembl chr38:366,656...416,952 		JBrowse link
G AVPR1B arginine vasopressin receptor 1B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:2,440,574...2,446,037
Ensembl chr38:2,440,615...2,446,037 		JBrowse link
G BTG2 BTG anti-proliferation factor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:70,921...75,149
Ensembl chr38:70,452...72,976 		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 7:2,108,716...2,172,246
Ensembl chr 7:2,108,455...2,303,220 		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 7:2,317,986...2,432,421
Ensembl chr 7:2,320,220...2,432,603 		JBrowse link
G CDK18 cyclin dependent kinase 18 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:1,978,128...2,005,319
Ensembl chr38:1,990,061...2,002,321 		JBrowse link
G CHI3L1 chitinase 3 like 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427 		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 chr38:1,570,598...1,600,524
Ensembl chr38:1,576,898...1,596,621 		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 7:1,400,650...1,421,918
Ensembl chr 7:1,397,912...1,421,007 		JBrowse link
G CTSE cathepsin E ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:2,368,711...2,380,554
Ensembl chr38:2,369,265...2,380,459 		JBrowse link
G CYB5R1 cytochrome b5 reductase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:232,280...237,496
Ensembl chr 7:232,098...237,031 		JBrowse link
G DDX59 DEAD-box helicase 59 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:2,448,991...2,530,076
Ensembl chr 7:2,501,195...2,530,069 		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 chr38:1,669,721...1,716,407
Ensembl chr38:1,669,726...1,716,254 		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 7:5,816,839...5,826,194
Ensembl chr 7:5,814,201...5,902,220 		JBrowse link
G EIF2D eukaryotic translation initiation factor 2D ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:2,851,972...2,871,574
Ensembl chr38:2,851,978...2,871,518 		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 7:959,408...965,533
Ensembl chr 7:859,585...963,788 		JBrowse link
G ELK4 ETS transcription factor ELK4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:2,069,829...2,085,381
Ensembl chr38:2,078,008...2,125,069 		JBrowse link
G ETNK2 ethanolamine kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:722,479...740,404
Ensembl chr38:725,200...736,851 		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 chr38:2,495,180...2,505,313 JBrowse link
G FMOD fibromodulin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:102,106...112,267
Ensembl chr38:103,230...112,154 		JBrowse link
G GOLT1A golgi transport 1A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:774,454...790,899
Ensembl chr38:774,454...789,655 		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 7:2,303,398...2,305,999
Ensembl chr 7:2,304,913...2,305,986 		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 7:882,672...887,679
Ensembl chr 7:883,279...887,811 		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 7:1,462,093...1,490,330 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 chr38:2,747,303...2,772,574
Ensembl chr38:2,747,297...2,772,587 		JBrowse link
G IL10 interleukin 10 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057 		JBrowse link
G INAVA innate immunity activator ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:2,264,120...2,284,196 JBrowse link
G IPO9 importin 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:1,076,628...1,131,579
Ensembl chr 7:1,077,212...1,109,988 		JBrowse link
G KDM5B lysine demethylase 5B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:336,452...415,568
Ensembl chr 7:330,705...412,386 		JBrowse link
G KIF14 kinesin family member 14 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:2,548,407...2,602,371
Ensembl chr 7:2,548,258...2,601,581 		JBrowse link
G KIF21B kinesin family member 21B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:2,185,040...2,231,046
Ensembl chr 7:2,184,733...2,231,058 		JBrowse link
G KISS1 KiSS-1 metastasis suppressor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:768,333...774,328
Ensembl chr38:768,585...773,382 		JBrowse link
G KLHDC8A kelch domain containing 8A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:1,832,201...1,839,117
Ensembl chr38:1,833,591...1,839,399 		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 7:256,814...284,132 JBrowse link
G LAD1 ladinin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:1,623,839...1,639,314
Ensembl chr 7:1,624,056...1,641,104 		JBrowse link
G LAX1 lymphocyte transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:429,062...438,069
Ensembl chr38:429,528...436,696 		JBrowse link
G LEMD1 LEM domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:1,872,196...1,898,493
Ensembl chr38:1,872,473...1,898,389 		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 7:731,934...837,092
Ensembl chr 7:731,931...834,893 		JBrowse link
G LMOD1 leiomodin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:1,025,022...1,059,254 JBrowse link
G LRRN2 leucine rich repeat neuronal 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:1,163,974...1,218,069
Ensembl chr38:1,164,664...1,166,802 		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 7:5,873,088...5,903,484
Ensembl chr 7:5,814,201...5,902,220 		JBrowse link
G MDM4 MDM4 regulator of p53 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:1,055,978...1,122,348
Ensembl chr38:1,056,109...1,107,166 		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 chr38:2,037,365...2,066,822
Ensembl chr38:2,037,026...2,064,696 		JBrowse link
G MYBPH myosin binding protein H ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:34,181...44,479
Ensembl chr 7:36,428...43,803 		JBrowse link
G MYOG myogenin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:112,116...114,604
Ensembl chr 7:112,034...113,892 		JBrowse link
G NAV1 neuron navigator 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:1,134,208...1,305,204
Ensembl chr 7:1,140,824...1,304,213 		JBrowse link
G NFASC neurofascin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:1,367,128...1,546,909
Ensembl chr38:1,366,251...1,543,630 		JBrowse link
G NUAK2 NUAK family kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:1,797,899...1,816,087
Ensembl chr38:1,798,802...1,816,185 		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 chr38:2,157,109...2,188,543
Ensembl chr38:2,160,233...2,170,560 		JBrowse link
G OPTC opticin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:215,404...223,247
Ensembl chr38:215,404...223,247 		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 7:1,438,539...1,440,701 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 chr38:974,248...1,016,226
Ensembl chr38:975,749...1,027,679 		JBrowse link
G PKP1 plakophilin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:1,921,143...1,966,910
Ensembl chr 7:1,921,143...1,967,703 		JBrowse link
G PLEKHA6 pleckstrin homology domain containing A6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:795,368...851,823
Ensembl chr38:799,918...838,835 		JBrowse link
G PM20D1 peptidase M20 domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:2,247,645...2,270,286
Ensembl chr38:2,250,272...2,270,653 		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 7:118,795...164,937
Ensembl chr 7:120,908...164,964 		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 7:512,692...713,848
Ensembl chr 7:512,575...713,709 		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 chr38:957,320...965,683
Ensembl chr38:959,721...965,933 		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 chr38:198,681...212,320
Ensembl chr38:198,583...209,937 		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 7:859,124...869,168
Ensembl chr 7:859,214...869,183 		JBrowse link
G RAB29 RAB29, member RAS oncogene family ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:2,196,618...2,204,150
Ensembl chr38:2,198,040...2,203,896 		JBrowse link
G RABIF RAB interacting factor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:286,660...295,383
Ensembl chr 7:286,672...293,750 		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 chr38:2,783,049...2,849,188
Ensembl chr38:2,783,122...2,847,909 		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 chr38:1,606,751...1,646,444
Ensembl chr38:1,608,314...1,646,094 		JBrowse link
G REN renin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:744,540...766,998
Ensembl chr38:744,614...755,012 		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 chr38:2,416,825...2,434,203
Ensembl chr38:2,416,749...2,433,831 		JBrowse link
G RNPEP arginyl aminopeptidase ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:966,563...985,169
Ensembl chr 7:966,607...984,714 		JBrowse link
G SHISA4 shisa family member 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:1,064,833...1,066,591 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 chr38:2,267,404...2,303,997
Ensembl chr38:2,276,065...2,304,066 		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 chr38:2,216,378...2,239,303
Ensembl chr38:2,218,706...2,236,672 		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 chr38:2,110,209...2,130,233
Ensembl chr38:2,078,008...2,125,069 		JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:515,808...521,536
Ensembl chr38:515,860...521,535 		JBrowse link
G SOX13 SRY-box transcription factor 13 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:702,974...721,340
Ensembl chr38:523,481...720,195 		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 chr38:2,506,617...2,741,866 JBrowse link
G SYT2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:497,387...509,338
Ensembl chr 7:497,394...502,952 		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 7:1,002,710...1,015,803
Ensembl chr 7:1,003,236...1,015,694 		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 chr38:1,733,826...1,775,072
Ensembl chr38:1,734,051...1,773,817 		JBrowse link
G TMEM183A transmembrane protein 183A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:166,640...180,680
Ensembl chr 7:166,974...180,660 		JBrowse link
G TMEM81 transmembrane protein 81 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr38:1,604,068...1,606,594
Ensembl chr38:1,604,288...1,605,254 		JBrowse link
G TMEM9 transmembrane protein 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:2,069,017...2,087,961 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 7:1,647,138...1,658,648
Ensembl chr 7:1,647,377...1,658,724 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 7:1,598,306...1,620,531
Ensembl chr 7:1,598,306...1,613,741 		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 7:719,128...726,128
Ensembl chr 7:719,116...725,898 		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 chr38:461,394...467,894 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 chr38:477,900...505,754 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15615
    syndrome 10115
      electroclinical syndrome 1342
        absence epilepsy 233
          adolescence-adult electroclinical syndrome 131
            familial adult myoclonic epilepsy 96
              familial adult myoclonic epilepsy 5 89
Path 2
Term Annotations click to browse term
  disease 15615
    disease of anatomical entity 15198
      nervous system disease 13267
        central nervous system disease 11877
          brain disease 11159
            movement disease 2500
              Dyskinesias 2129
                Myoclonus 379
                  Myoclonic Epilepsies 373
                    familial adult myoclonic epilepsy 96
                      familial adult myoclonic epilepsy 5 89
paths to the root