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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 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:202,940,825...202,958,572
Ensembl chr 1:202,940,826...202,958,572 		JBrowse link
G ADORA1 adenosine A1 receptor IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:203,127,726...203,167,405
Ensembl chr 1:203,090,654...203,167,405 		JBrowse link
G ARL8A ADP ribosylation factor like GTPase 8A IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:202,133,404...202,144,737
Ensembl chr 1:202,133,404...202,144,743 		JBrowse link
G ASCL5 achaete-scute family bHLH transcription factor 5 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:201,113,943...201,127,184
Ensembl chr 1:201,113,943...201,127,184 		JBrowse link
G ATP2B4 ATPase plasma membrane Ca2+ transporting 4 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:203,626,832...203,744,081
Ensembl chr 1:203,626,832...203,744,081 		JBrowse link
G AVPR1B arginine vasopressin receptor 1B IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:206,106,936...206,117,388
Ensembl chr 1:206,106,936...206,117,699 		JBrowse link
G BTG2 BTG anti-proliferation factor 2 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:203,305,519...203,309,602
Ensembl chr 1:203,305,491...203,309,602 		JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451 		JBrowse link
G CAMSAP2 calmodulin regulated spectrin associated protein family member 2 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:200,738,893...200,860,704
Ensembl chr 1:200,738,893...200,860,704 		JBrowse link
G CDK18 cyclin dependent kinase 18 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:205,504,669...205,532,790
Ensembl chr 1:205,504,596...205,532,793 		JBrowse link
G CHI3L1 chitinase 3 like 1 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704 		JBrowse link
G CHIT1 chitinase 1 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:203,216,079...203,230,099
Ensembl chr 1:203,212,827...203,273,641 		JBrowse link
G CNTN2 contactin 2 IAGP
EXP		 ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:11178983 PMID:16199547 PMID:17576681 PMID:23518707 More... NCBI chr 1:205,042,949...205,078,289
Ensembl chr 1:205,042,937...205,078,289 		JBrowse link
G CSRP1 cysteine and glycine rich protein 1 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:201,483,530...201,507,123
Ensembl chr 1:201,483,530...201,509,456 		JBrowse link
G CTSE cathepsin E IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:206,009,264...206,023,895
Ensembl chr 1:206,008,535...206,023,909 		JBrowse link
G CYB5R1 cytochrome b5 reductase 1 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:202,961,873...202,967,257
Ensembl chr 1:202,961,873...202,967,275 		JBrowse link
G DDX59 DEAD-box helicase 59 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907 		JBrowse link
G DSTYK dual serine/threonine and tyrosine protein kinase IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:205,142,505...205,211,702
Ensembl chr 1:205,142,505...205,211,702 		JBrowse link
G DYRK3 dual specificity tyrosine phosphorylation regulated kinase 3 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:206,635,536...206,655,158
Ensembl chr 1:206,635,536...206,684,419 		JBrowse link
G EIF2D eukaryotic translation initiation factor 2D IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:206,569,146...206,612,465
Ensembl chr 1:206,571,292...206,612,465 		JBrowse link
G ELF3 E74 like ETS transcription factor 3 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:202,010,587...202,017,183
Ensembl chr 1:202,007,945...202,017,183 		JBrowse link
G ELK4 ETS transcription factor ELK4 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:205,607,943...205,632,011
Ensembl chr 1:205,597,556...205,632,011 		JBrowse link
G ETNK2 ethanolamine kinase 2 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:204,131,062...204,152,044
Ensembl chr 1:204,131,062...204,152,044 		JBrowse link
G FAM72A family with sequence similarity 72 member A IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:206,186,179...206,205,773
Ensembl chr 1:206,186,179...206,204,414 		JBrowse link
G FMOD fibromodulin IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:203,340,628...203,351,122
Ensembl chr 1:203,340,628...203,351,758 		JBrowse link
G GOLT1A golgi transport 1A IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:204,198,163...204,213,988
Ensembl chr 1:204,198,163...204,213,988 		JBrowse link
G GPR25 G protein-coupled receptor 25 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:200,872,981...200,874,178
Ensembl chr 1:200,872,981...200,874,178 		JBrowse link
G GPR37L1 G protein-coupled receptor 37 like 1 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:202,122,917...202,133,592
Ensembl chr 1:202,122,886...202,133,592 		JBrowse link
G IGFN1 immunoglobulin like and fibronectin type III domain containing 1 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:201,190,824...201,228,952
Ensembl chr 1:201,190,824...201,228,952 		JBrowse link
G IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:206,470,476...206,496,889
Ensembl chr 1:206,470,476...206,496,889 		JBrowse link
G IKBKE-AS1 IKBKE antisense RNA 1 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:206,491,116...206,497,728
Ensembl chr 1:206,491,116...206,497,728 		JBrowse link
G IL10 interleukin 10 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G INAVA innate immunity activator IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:200,891,531...200,915,742
Ensembl chr 1:200,891,048...200,915,742 		JBrowse link
G IPO9 importin 9 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:201,829,157...201,884,291
Ensembl chr 1:201,829,149...201,884,291 		JBrowse link
G KDM5B lysine demethylase 5B IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487 		JBrowse link
G KIF14 kinesin family member 14 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751 		JBrowse link
G KIF21B kinesin family member 21B IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:200,969,390...201,023,714
Ensembl chr 1:200,969,390...201,023,714 		JBrowse link
G KISS1 KiSS-1 metastasis suppressor IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
G KLHDC8A kelch domain containing 8A IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:205,336,061...205,357,039
Ensembl chr 1:205,336,061...205,357,090 		JBrowse link
G KLHL12 kelch like family member 12 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:202,891,120...202,928,599
Ensembl chr 1:202,891,116...202,928,636 		JBrowse link
G LAD1 ladinin 1 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:201,380,833...201,399,324
Ensembl chr 1:201,380,833...201,399,915 		JBrowse link
G LAX1 lymphocyte transmembrane adaptor 1 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:203,765,183...203,776,372
Ensembl chr 1:203,765,177...203,776,372 		JBrowse link
G LEMD1 LEM domain containing 1 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:205,381,378...205,449,966
Ensembl chr 1:205,381,378...205,455,954 		JBrowse link
G LGR6 leucine rich repeat containing G protein-coupled receptor 6 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:202,193,799...202,319,761
Ensembl chr 1:202,193,799...202,319,781 		JBrowse link
G LMOD1 leiomodin 1 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:201,896,456...201,946,548
Ensembl chr 1:201,896,456...201,946,548 		JBrowse link
G LOC126805985 MED14-independent group 3 enhancer GRCh37_chr1:205041546-205042745 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:9536098 PMID:11178983 PMID:17576681 PMID:23518707 PMID:25741868 More... NCBI chr 1:205,072,418...205,073,617 JBrowse link
G LRRN2 leucine rich repeat neuronal 2 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:204,617,170...204,685,738
Ensembl chr 1:204,617,170...204,685,738 		JBrowse link
G MAPKAPK2 MAPK activated protein kinase 2 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:206,684,905...206,734,281
Ensembl chr 1:206,684,905...206,734,281 		JBrowse link
G MDM4 MDM4 regulator of p53 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:204,516,406...204,558,120
Ensembl chr 1:204,516,379...204,558,120 		JBrowse link
G MFSD4A major facilitator superfamily domain containing 4A IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:205,569,014...205,602,918
Ensembl chr 1:205,568,885...205,602,918 		JBrowse link
G MYBPH myosin binding protein H IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:203,167,811...203,179,214
Ensembl chr 1:203,167,811...203,175,826 		JBrowse link
G MYOG myogenin IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:203,083,129...203,086,012
Ensembl chr 1:203,083,129...203,086,012 		JBrowse link
G NAV1 neuron navigator 1 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:201,539,127...201,826,969
Ensembl chr 1:201,539,127...201,826,969 		JBrowse link
G NFASC neurofascin IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:204,828,652...205,022,822
Ensembl chr 1:204,828,651...205,022,822 		JBrowse link
G NUAK2 NUAK family kinase 2 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:205,302,063...205,321,745
Ensembl chr 1:205,302,063...205,321,745 		JBrowse link
G NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:205,712,822...205,750,182
Ensembl chr 1:205,712,822...205,750,182 		JBrowse link
G OPTC opticin IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:203,494,153...203,508,949
Ensembl chr 1:203,494,121...203,508,949 		JBrowse link
G PCAT6 prostate cancer associated transcript 6 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:202,810,946...202,811,913
Ensembl chr 1:202,810,850...202,812,473 		JBrowse link
G PHLDA3 pleckstrin homology like domain family A member 3 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:201,464,278...201,469,188
Ensembl chr 1:201,464,278...201,469,237 		JBrowse link
G PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:204,422,633...204,494,805
Ensembl chr 1:204,422,628...204,494,805 		JBrowse link
G PKP1 plakophilin 1 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:201,283,506...201,332,989
Ensembl chr 1:201,283,452...201,332,993 		JBrowse link
G PLEKHA6 pleckstrin homology domain containing A6 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:204,218,853...204,378,168
Ensembl chr 1:204,218,853...204,378,214 		JBrowse link
G PM20D1 peptidase M20 domain containing 1 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:205,828,025...205,850,132
Ensembl chr 1:205,828,025...205,850,132 		JBrowse link
G PPFIA4 PTPRF interacting protein alpha 4 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:203,026,491...203,078,736
Ensembl chr 1:203,026,491...203,078,740 		JBrowse link
G PPP1R12B protein phosphatase 1 regulatory subunit 12B IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:202,348,699...202,592,702
Ensembl chr 1:202,348,699...202,592,706 		JBrowse link
G PPP1R15B protein phosphatase 1 regulatory subunit 15B IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887 		JBrowse link
G PRELP proline and arginine rich end leucine rich repeat protein IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:203,475,806...203,491,352
Ensembl chr 1:203,475,806...203,491,352 		JBrowse link
G PTPN7 protein tyrosine phosphatase non-receptor type 7 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:202,147,013...202,161,588
Ensembl chr 1:202,147,013...202,161,588 		JBrowse link
G RAB29 RAB29, member RAS oncogene family IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:205,767,986...205,775,482
Ensembl chr 1:205,767,986...205,775,482 		JBrowse link
G RABIF RAB interacting factor IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:202,878,282...202,889,149
Ensembl chr 1:202,878,282...202,889,149 		JBrowse link
G RASSF5 Ras association domain family member 5 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:206,507,531...206,589,448
Ensembl chr 1:206,507,531...206,589,448 		JBrowse link
G RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:205,086,142...205,121,978
Ensembl chr 1:205,086,142...205,122,015 		JBrowse link
G REN renin IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:204,154,819...204,166,337
Ensembl chr 1:204,154,819...204,190,324 		JBrowse link
G RHEX regulator of hemoglobinization and erythroid cell expansion IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:206,053,173...206,102,449
Ensembl chr 1:206,053,173...206,102,449 		JBrowse link
G RNPEP arginyl aminopeptidase IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:201,982,648...202,006,143
Ensembl chr 1:201,982,372...202,006,147 		JBrowse link
G SHISA4 shisa family member 4 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:201,888,677...201,892,587
Ensembl chr 1:201,888,680...201,892,587 		JBrowse link
G SLC26A9 solute carrier family 26 member 9 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:205,913,052...205,943,456
Ensembl chr 1:205,913,048...205,943,460 		JBrowse link
G SLC41A1 solute carrier family 41 member 1 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:205,789,095...205,813,198
Ensembl chr 1:205,789,094...205,813,748 		JBrowse link
G SLC45A3 solute carrier family 45 member 3 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:205,657,851...205,680,509
Ensembl chr 1:205,657,851...205,680,509 		JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:203,861,599...203,871,152
Ensembl chr 1:203,861,599...203,871,152 		JBrowse link
G SOX13 SRY-box transcription factor 13 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:204,073,115...204,127,743
Ensembl chr 1:204,073,115...204,127,743 		JBrowse link
G SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:206,203,541...206,464,436
Ensembl chr 1:206,203,346...206,464,436 		JBrowse link
G SYT2 synaptotagmin 2 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G TIMM17A translocase of inner mitochondrial membrane 17A IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:201,955,503...201,970,664
Ensembl chr 1:201,955,503...201,970,664 		JBrowse link
G TMCC2 transmembrane and coiled-coil domain family 2 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:205,227,946...205,273,343
Ensembl chr 1:205,227,946...205,285,632 		JBrowse link
G TMEM183A transmembrane protein 183A IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:203,007,374...203,024,848
Ensembl chr 1:203,007,374...203,024,848 		JBrowse link
G TMEM81 transmembrane protein 81 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:205,083,129...205,084,460
Ensembl chr 1:205,083,129...205,084,460 		JBrowse link
G TMEM9 transmembrane protein 9 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:201,134,772...201,171,558
Ensembl chr 1:201,134,772...201,171,574 		JBrowse link
G TNNI1 troponin I1, slow skeletal type IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:201,403,784...201,421,730
Ensembl chr 1:201,403,784...201,429,866 		JBrowse link
G TNNT2 troponin T2, cardiac type IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:201,359,014...201,377,680
Ensembl chr 1:201,359,008...201,377,764 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984 		JBrowse link
G ZBED6 zinc finger BED-type containing 6 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:203,795,623...203,854,124
Ensembl chr 1:203,795,623...203,854,124 		JBrowse link
G ZC3H11A zinc finger CCCH-type containing 11A IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:203,795,623...203,854,124
Ensembl chr 1:203,795,623...203,854,999 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    syndrome 18145
      electroclinical syndrome 1766
        absence epilepsy 258
          adolescence-adult electroclinical syndrome 140
            familial adult myoclonic epilepsy 103
              familial adult myoclonic epilepsy 5 93
Path 2
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      nervous system disease 26373
        central nervous system disease 23608
          brain disease 22047
            movement disease 3285
              Dyskinesias 2692
                Myoclonus 463
                  Myoclonic Epilepsies 455
                    familial adult myoclonic epilepsy 103
                      familial adult myoclonic epilepsy 5 93
paths to the root