Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:Myoclonic Epilepsies
go back to main search page
Accession:DOID:9005154 term browser browse the term
Definition:A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).
Synonyms:exact_synonym: Cryptogenic Myoclonic Epilepsy;   Idiopathic Myoclonic Epilepsy;   MYOCLONIC ABSENCE SEIZURE;   Myoclonic Absence Epilepsies;   Myoclonic Absence Epilepsy;   Myoclonic Astatic Epilepsies;   Myoclonic Astatic Epilepsy;   Myoclonic Encephalopathies;   Myoclonic Encephalopathy;   Myoclonic Epilepsy;   Myoclonic Seizure Disorder;   Myoclonic Seizure Disorders;   Myoclonus Epilepsies;   cryptogenic myoclonic epilepsies;   idiopathic myoclonic epilepsies;   myoclonia epileptica;   myoclonic epilepsy;   myoclonic epileptic seizures;   myoclonic seizure;   myoclonic seizure disorder;   myoclonus epilepsy;   symptomatic myoclonic epilepsies;   symptomatic myoclonic epilepsy
 narrow_synonym: GENERALIZED MYOCLONIC SEIZURES
 primary_id: MESH:D004831
 alt_id: OMIA:002095
 xref: EFO:1001900



show annotations for term's descendants           Sort by:
Myoclonic Epilepsies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adsl adenylosuccinate lyase ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:10888601 PMID:17188615 PMID:18524658 PMID:20127976 PMID:22180458 More... NCBI chr 7:114,359,440...114,383,618 JBrowse link
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,894,602...147,208,060 JBrowse link
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,750,821...146,766,050 JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar NCBI chr 1:136,597,993...136,726,874 JBrowse link
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: myoclonic epilepsy ClinVar PMID:28492532 NCBI chr15:44,517,862...44,534,144 JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Myoclonus epilepsy ClinVar PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 More... NCBI chr20:10,245,462...10,247,505 JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Myoclonus epilepsy ClinVar PMID:9771710 PMID:9931343 PMID:11175283 PMID:12019207 PMID:14532330 More... NCBI chr 1:5,727,111...5,845,338 JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,234,633...148,299,035 JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,740,863...146,747,547 JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,865,712...146,869,621 JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Myoclonus epilepsy ClinVar PMID:16199547 PMID:21549339 PMID:25326637 PMID:25741868 PMID:28492532 More... NCBI chr10:89,085,323...89,105,665 JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Myoclonic absence seizure ClinVar PMID:25741868 PMID:28492532 NCBI chr13:92,609,791...92,618,580 JBrowse link
G Irak2 interleukin-1 receptor-associated kinase 2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,341,704...148,398,211 JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Myoclonic absence seizure ClinVar PMID:25741868 PMID:26477325 PMID:28492532 PMID:28806457 PMID:29264397 More... NCBI chr 3:176,239,285...176,332,408 JBrowse link
G Lmnb2 lamin B2 ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:28492532 NCBI chr 7:8,792,628...8,808,665 JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO DNA:missense mutation: :m.14487T>C (p.M63V) (human) RGD PMID:20019223 RGD:6482231
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17275665 NCBI chr10:48,294,932...48,324,941 JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:6088243 NCBI chr 6:32,659,137...32,665,175 JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Myoclonus epilepsy | ClinVar Annotator: match by term: myoclonic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 4:124,869,655...125,214,862 JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:25741868 PMID:33085104 NCBI chr19:34,110,724...34,161,531 JBrowse link
G Rapgef2 Rap guanine nucleotide exchange factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chr 2:164,207,513...164,322,157 JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chr 7:86,658,709...86,953,879 JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Myoclonus epilepsy ClinVar PMID:18308289 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28492532 More... NCBI chr14:15,558,271...15,609,813 JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myoclonic encephalopathy | ClinVar Annotator: match by term: myoclonic epilepsy
CTD
ClinVar
PMID:12907273 PMID:17347258 PMID:19099883 PMID:21480876 PMID:28492532 More... NCBI chr 3:71,360,840...71,479,870 JBrowse link
G Sec13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,433,344...148,446,735 JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25741868 NCBI chr 9:950,939...967,905 JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25741868 NCBI chr 5:138,002,522...138,030,742 JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy | ClinVar Annotator: match by term: Myoclonus epilepsy ClinVar PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More... NCBI chr 4:147,448,961...147,482,295 JBrowse link
G Slc6a11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:147,297,972...147,413,319 JBrowse link
G Slc7a6os solute carrier family 7, member 6 opposite strand ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:25741868 PMID:33085104 NCBI chr19:34,101,978...34,110,666 JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:131,470,348...131,670,794 JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18469812 PMID:29929108 NCBI chr 3:16,076,725...16,138,431 JBrowse link
G Tatdn2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,845,156...146,865,708 JBrowse link
G Tnrc6a trinucleotide repeat containing adaptor 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chr 1:186,992,457...187,146,764 JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,772,483...146,779,376 JBrowse link
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy OMIM
ClinVar
PMID:25741868 NCBI chr 4:157,554,287...157,568,092 JBrowse link
developmental and epileptic encephalopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 ClinVar PMID:25741868 NCBI chr 1:205,966,392...205,972,359 JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3
OMIM
CTD
ClinVar
PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25033742 More... NCBI chr 1:205,954,713...205,966,188 JBrowse link
Dravet syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: Dravet syndrome ClinVar PMID:22279524 PMID:25500575 PMID:25741868 PMID:28492532 PMID:29390993 NCBI chr12:13,928,889...13,951,760 JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 2:182,308,389...182,335,747 JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar NCBI chr10:26,876,926...26,965,523 JBrowse link
G Lysmd1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:185,394,145...185,403,475 JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:185,229,392...185,261,697 JBrowse link
G Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:185,317,319...185,361,859 JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 2:185,069,492...185,129,741 JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 2:182,442,757...182,445,532 JBrowse link
G Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:185,287,941...185,297,238 JBrowse link
G Rfx5 regulatory factor X5 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 2:182,521,191...182,528,720 JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO
ISS
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6 | ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy 6 | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
OMIM:607208
OMIM
ClinVar
MouseDO
PMID:1893009 PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 More... NCBI chr 3:71,360,840...71,479,870 JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:95,481,298...95,491,211 JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar NCBI chr 3:70,710,862...70,845,569 JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 More... NCBI chr 3:71,553,185...71,701,377 JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 2:182,494,004...182,504,594 JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894286 PMID:28492532 More... NCBI chr 2:182,135,904...182,218,906 JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,695,709...182,700,540 JBrowse link
G Tnfaip8l2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,710,433...182,726,724 JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 2:184,949,437...184,995,321 JBrowse link
G Vps72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:185,367,329...185,379,199 JBrowse link
G Zfp687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,572,893...182,581,641 JBrowse link
early myoclonic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr10:13,757,884...13,783,669 JBrowse link
G Diras1 DIRAS family GTPase 1 ISO Epilepsy, generalized myoclonic, with photosensitivity OMIA PMID:28223533 PMID:29194766 PMID:38003185 NCBI chr 7:8,687,964...8,692,828 JBrowse link
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr20:21,051,270...21,056,322 JBrowse link
G Jmjd1c jumonji domain containing 1C ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22495311 PMID:25741868 More... NCBI chr20:21,330,990...21,508,580 JBrowse link
G Kcnd2 potassium voltage-gated channel subfamily D member 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19171772 PMID:24501278 More... NCBI chr 4:49,775,812...50,277,746 JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar PMID:25741868 PMID:28492532 NCBI chr14:32,901,615...32,978,895 JBrowse link
G Nrbf2 nuclear receptor binding factor 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr20:21,308,555...21,326,881 JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:25326637 PMID:28492532 NCBI chr11:84,612,943...84,690,025 JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 More... NCBI chr 3:71,360,840...71,479,870 JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 More... NCBI chr 3:71,553,185...71,701,377 JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar PMID:15592994 PMID:18414213 PMID:19780765 PMID:25033742 PMID:25741868 More... NCBI chr 1:205,954,713...205,966,188 JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:182,135,904...182,218,906 JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:18414213 PMID:22277662 PMID:23526554 PMID:24033266 PMID:24291220 More... NCBI chr10:13,205,819...13,236,013 JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr 4:50,313,768...50,389,246 JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:30744660 PMID:31833200 NCBI chr 7:131,992,151...131,996,850 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr 7:86,658,709...86,953,879 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 PMID:27124789 PMID:27431290 PMID:31130284 PMID:37644014 NCBI chr 3:114,585,174...114,589,220 JBrowse link
G Stard7 StAR-related lipid transfer domain containing 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2
OMIM
CTD
ClinVar
PMID:25741868 NCBI chr 3:114,487,161...114,515,828 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr 2:82,455,686...82,532,917 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 | ClinVar Annotator: match by term: YEATS2-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr11:80,743,134...80,829,253 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 chr13:48,411,438...48,431,251 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 JBrowse link
G Arl8a ARF 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 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 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 chr13:47,708,157...47,807,389 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 JBrowse link
G Btg2 BTG anti-proliferation factor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,083,931...48,087,690 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 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 JBrowse link
G Cdk18 cyclin-dependent kinase 18 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,107,763...46,140,705 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 JBrowse link
G Chit1 chitinase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,117,886...48,165,645 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 chr13:43,942,868...43,975,973 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 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 JBrowse link
G Cyb5r1 cytochrome b5 reductase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,401,061...48,407,466 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 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 chr13:46,409,412...46,457,426 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 chr13:45,146,383...45,157,082 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 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 chr13:49,242,265...49,247,102 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 JBrowse link
G Etnk2 ethanolamine kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,362,964...47,381,100 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 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 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 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 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 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 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 chr13:45,264,404...45,290,737 JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,024,921...45,029,586 JBrowse link
G Inava innate immunity activator ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:50,218,149...50,238,430 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 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 JBrowse link
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:50,478,646...50,542,256 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 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 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 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 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 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 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 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 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 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 JBrowse link
G Mapkapk2 MAPK activated protein kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,066,027...45,112,326 JBrowse link
G Mdm4 MDM4 regulator of p53 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,922,236...47,068,241 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 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 JBrowse link
G Myog myogenin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,297,476...48,300,065 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 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 JBrowse link
G Nuak2 NUAK family kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,305,744...46,322,755 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 chr13:45,897,275...45,926,491 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 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 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 chr13:47,046,866...47,107,733 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 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 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 JBrowse link
G Ppfia4 PTPRF interacting protein alpha 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,305,844...48,354,329 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 chr13:48,751,256...48,948,933 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 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 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 JBrowse link
G Rab29 RAB29, member RAS oncogene family ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,859,930...45,865,468 JBrowse link
G Rabif RAB interacting factor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,488,370...48,500,853 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 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 JBrowse link
G Ren renin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,348,312...47,359,539 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 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 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 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 chr13:45,822,999...45,843,364 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 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 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 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 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 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 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 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 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 JBrowse link
G Tmem9 transmembrane protein 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:50,008,829...50,027,556 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 JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:49,819,123...49,837,125 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 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 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 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 NCBI chr 1:186,992,457...187,146,764 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 NCBI chr 2:164,207,513...164,322,157 JBrowse link
familial encephalopathy with neuroserpin inclusion bodies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies ClinVar PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532 NCBI chr 2:160,303,465...160,346,086 JBrowse link
G Serpinb7 serpin family B member 7 ISO RGD PMID:16782060 RGD:7207386 NCBI chr13:23,369,830...23,442,205 JBrowse link
G Serpini1 serpin family I member 1 ISO
ISS
ClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies
OMIM:604218
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:11138927 PMID:11880376 PMID:12103288 PMID:15090543 More... NCBI chr 2:160,346,403...160,433,135 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 chr11:80,197,741...80,211,657 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 alpha 1 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 chr10:27,096,731...27,152,563 JBrowse link
idiopathic generalized epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25326635 PMID:25741868 NCBI chr 1:126,123,425...126,249,181 JBrowse link
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 9:23,375,815...23,414,283 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 chr 3:70,554,496...70,666,198 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 chr20:4,728,282...4,737,286 JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr10:79,851,886...79,919,926 JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD
ClinVar
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:36,906,771...37,169,165 JBrowse link
G Caprin1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:25741868 PMID:35979925 NCBI chr 3:90,152,305...90,230,447 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 chr 3:78,862,286...78,877,353 JBrowse link
G Efhc1 EF-hand domain containing 1 susceptibility ISO
ISS
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:254770
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:8737649 PMID:9536098 PMID:12439895 PMID:15258581 PMID:16199547 More... NCBI chr 9:23,375,815...23,414,283 JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD
ClinVar
NCBI chr10:27,096,731...27,152,563 JBrowse link
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:27899157 PMID:28492532 PMID:33468338 PMID:35432193 PMID:36110220 More... NCBI chr17:1,027,229...1,058,554 JBrowse link
G Jrk Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 7:106,590,662...106,595,345 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 ISO ClinVar Annotator: match by term: CILK1-related condition ClinVar
OMIM
PMID:25741868 PMID:28492532 NCBI chr 8:87,868,294...87,922,995 JBrowse link
Lafora disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epm2a EPM2A glucan phosphatase, laforin ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lafora disease
OMIM:254780
CTD
ClinVar
MouseDO
PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 More... NCBI chr 1:5,727,111...5,845,338 JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISS
ISO
OMIM:254780
ClinVar Annotator: match by term: Epilepsy progressive myoclonic 2 | ClinVar Annotator: match by term: Lafora disease
MouseDO
ClinVar
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16021330 More... NCBI chr17:17,674,303...17,677,144 JBrowse link
G Tpmt thiopurine S-methyltransferase ISO ClinVar Annotator: match by term: Lafora disease ClinVar PMID:15781812 PMID:17389303 PMID:23317923 PMID:28492532 NCBI chr17:17,644,088...17,662,709 JBrowse link
MERRF Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:136,979,804...136,990,236 JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:137,030,200...137,036,581 JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: MERRF syndrome ClinVar PMID:15767514 PMID:16816025 PMID:17400793 PMID:18332249 PMID:25741868 NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
JBrowse link
Myoclonic Epilepsy of Lafora 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: EPM2A-related condition | ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1 OMIM
ClinVar
PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11739371 More... NCBI chr 1:5,727,111...5,845,338 JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1 ClinVar PMID:25741868 NCBI chr17:17,674,303...17,677,144 JBrowse link
Myoclonic Epilepsy of Lafora 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b | ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 2 OMIM
ClinVar
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16134145 More... NCBI chr17:17,674,303...17,677,144 JBrowse link
Myoclonic Epilepsy, Familial Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr10:13,757,884...13,783,669 JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:32,901,615...32,978,895 JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy ClinVar PMID:25326637 PMID:28492532 NCBI chr11:84,612,943...84,690,025 JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy
DNA:mutation:cds:c.751T>C(p.F251L)(human)
DNA:mutation:cds:c.457G>A (p.E153K)(human)
OMIM
ClinVar
RGD
PMID:10574461 PMID:10741954 PMID:18414213 PMID:20727515 PMID:20797691 More... RGD:11537393, RGD:11537392 NCBI chr10:13,205,819...13,236,013 JBrowse link
myoclonic-atonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc4 actin related protein 2/3 complex, subunit 4 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,077,799...148,088,427 JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 1:80,572,790...80,601,936 JBrowse link
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,894,602...147,208,060 JBrowse link
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,750,821...146,766,050 JBrowse link
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,456,325...146,472,781 JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 More... NCBI chr19:40,425,560...40,724,810 JBrowse link
G Camk1 calcium/calmodulin-dependent protein kinase I ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,036,843...148,047,675 JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:14,753,594...14,772,745 JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset ClinVar PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 More... NCBI chr 1:136,597,993...136,726,874 JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,569,288...146,582,173 JBrowse link
G Cpne9 copine family member 9 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,429,961...146,454,335 JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,631,883...146,641,493 JBrowse link
G Dnm1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chr 3:36,002,535...36,055,220 JBrowse link
G Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,663,065...146,678,976 JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,234,633...148,299,035 JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,740,863...146,747,547 JBrowse link
G Fgf12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 More... NCBI chr11:85,501,947...86,069,543 JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 IEP protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:147,240,239...147,278,057 JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,865,712...146,869,621 JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,618,321...146,631,444 JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,604,547...146,618,206 JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:21,254,799...21,337,179 JBrowse link
G Irak2 interleukin-1 receptor-associated kinase 2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,341,704...148,398,211 JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,591,577...146,596,287 JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar NCBI chr12:27,663,177...27,697,085 JBrowse link
G Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,386,949...146,429,990 JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,030,237...148,037,599 JBrowse link
G Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:250,040,250...250,194,364 JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:14,773,398...14,776,035 JBrowse link
G Prrt3 proline-rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,641,173...146,650,487 JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chr 6:72,977,432...73,252,378 JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr10:8,152,198...10,248,120 JBrowse link
G Rpusd3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,553,743...146,562,789 JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More... NCBI chr 3:71,360,840...71,479,870 JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 PMID:37845033 NCBI chr 1:95,481,298...95,491,211 JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood ClinVar PMID:25741868 NCBI chr 3:70,710,862...70,845,569 JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:133,860,901...134,034,809 JBrowse link
G Sec13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,433,344...148,446,735 JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More... NCBI chr10:56,866,249...56,891,189 JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
OMIM
ClinVar
PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More... NCBI chr 4:147,448,961...147,482,295 JBrowse link
G Slc6a11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:147,297,972...147,413,319 JBrowse link
G Srgap2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr13:42,745,956...42,967,091 JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 More... NCBI chr 3:16,076,725...16,138,431 JBrowse link
G Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,510,213...146,521,975 JBrowse link
G Tatdn2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,845,156...146,865,708 JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) RGD PMID:23526554 RGD:11537471 NCBI chr10:13,205,819...13,236,013 JBrowse link
G Ttll3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,532,958...146,558,425 JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,772,483...146,779,376 JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:17,448,195...17,454,117 JBrowse link
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med11 mediator complex subunit 11 ISO ClinVar Annotator: match by term: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities OMIM
ClinVar
PMID:36001086 NCBI chr10:55,164,322...55,165,940 JBrowse link
Progressive Myoclonic Epilepsy 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b ClinVar PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16311711 More... NCBI chr17:17,674,303...17,677,144 JBrowse link
progressive myoclonus epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,128,056...9,184,312 JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,222,569...11,350,854 JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr18:63,224,163...63,269,000 JBrowse link
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,330,960...10,415,358 JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,635,775...10,650,709 JBrowse link
G Art3 ADP-ribosyltransferase 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,637,230...15,719,442 JBrowse link
G Atn1 atrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10814707 NCBI chr 4:157,554,287...157,568,092 JBrowse link
G C20h21orf58 similar to human chromosome 21 open reading frame 58 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,165,853...12,187,271 JBrowse link
G C2cd2 C2 calcium-dependent domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr11:37,225,321...37,289,741 JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,708,089...9,732,623 JBrowse link
G Ccdc158 coiled-coil domain containing 158 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,411,178...15,468,579 JBrowse link
G Cdkl2 cyclin dependent kinase like 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:16,312,154...16,347,524 JBrowse link
G Cers1 ceramide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:19,131,271...19,146,480 JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,687,863...10,694,736 JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:136,597,993...136,726,874 JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:27843123 More... NCBI chr 1:181,156,071...181,169,458 JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:18414213 PMID:24767253 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:79,893,573...79,903,438 JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive
CTD
ClinVar
PMID:25401298 PMID:25741868 NCBI chr 8:63,303,356...63,318,360 JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,474,104...11,582,593 JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,905,690...11,924,111 JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,021,676...12,049,425 JBrowse link
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,783,605...9,787,351 JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chr20:10,245,462...10,247,505 JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,989,066...15,991,263 JBrowse link
G Cxcl11 C-X-C motif chemokine ligand 11 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,973,728...15,976,503 JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:16,007,166...16,012,077 JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:168,621,905...168,656,570 JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,614,591...10,628,989 JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9536098 PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 More... RGD:9685621 NCBI chr 1:5,727,111...5,845,338 JBrowse link
G Fam47e family with sequence similarity 47, member E ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,485,537...15,521,599 JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:18414213 PMID:24767253 PMID:25741868 PMID:28492532 NCBI chr15:79,906,795...79,926,678 JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,055,203...12,068,717 JBrowse link
G G3bp2 G3BP stress granule assembly factor 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,932,403...16,020,555 JBrowse link
G Gatd3a glutamine amidotransferase class 1 domain containing 3A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,514,459...10,522,556 JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19057520 PMID:21549339 More... NCBI chr10:89,085,323...89,105,665 JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,035,562...10,123,059 JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,600,420...10,610,718 JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,061,009...11,097,242 JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 1:96,902,953...96,944,744 JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar NCBI chr12:26,520,969...26,532,327 JBrowse link
G Krtap10-1 keratin associated protein 10-1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,880,524...10,881,445 JBrowse link
G Krtap10-10 keratin associated protein 10-10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,854,951...10,864,402 JBrowse link
G Krtap10-2 keratin associated protein 10-2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,888,588...10,889,386 JBrowse link
G Krtap10-8 keratin associated protein 10-8 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,871,991...10,872,927 JBrowse link
G Krtap10-9 keratin associated protein 10-9 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,939,609...10,940,526 JBrowse link
G Krtap12-1 keratin associated protein 12-1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,917,340...10,917,949 JBrowse link
G Krtap12-2 keratin associated protein 12-2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,904,422...10,904,751 JBrowse link
G Krtap12-4 keratin associated protein 12-4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,910,350...10,910,682 JBrowse link
G Lmnb2 lamin B2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:8,792,628...8,808,665 JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,758,919...10,763,736 JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,090,641...12,118,230 JBrowse link
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,127,570...12,165,165 JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:28492532 NCBI chr 2:123,822,042...123,847,808 JBrowse link
G Naaa N-acylethanolamine acid amidase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,777,306...15,796,411 JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,613,786...9,622,941 JBrowse link
G Neu1 neuraminidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr20:3,897,480...3,901,745 JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr17:17,674,303...17,677,144 JBrowse link
G Nup54 nucleoporin 54 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,617,630...15,636,029 JBrowse link
G Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:16,071,835...16,080,151 JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:12379221 PMID:22318854 RGD:724387, RGD:6480499 NCBI chr17:73,209,572...73,260,251 JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,678,218...11,878,210 JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,190,597...12,278,723 JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,469,809...9,562,949 JBrowse link
G Pfkl phosphofructokinase, liver type ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,663,907...10,685,967 JBrowse link
G Pknox1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,662,866...9,705,030 JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,367,073...11,377,788 JBrowse link
G Ppef2 protein phosphatase with EF-hand domain 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,797,414...15,831,620 JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:9425237 PMID:9664077 PMID:9733046 PMID:10649502 PMID:10679943 More... NCBI chr 5:135,121,164...135,142,048 JBrowse link
G Prdm15 PR/SET domain 15 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr11:37,164,608...37,225,172 JBrowse link
G Prdm8 PR/SET domain 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:11,403,202...11,424,059 JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: PME
ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar PMID:18414213 PMID:20301774 PMID:21901791 PMID:25741868 PMID:26467025 More... NCBI chr 7:124,639,142...124,735,027 JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:21276947 PMID:23711981 PMID:25741868 PMID:26467025 PMID:26942291 More... NCBI chr 4:124,869,655...125,214,862 JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 3:139,639,076...139,654,420 JBrowse link
G Pttg1ip PTTG1 interacting protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,030,013...11,047,742 JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,499,332...10,512,965 JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr11:50,591,926...50,614,169 JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,260,892...10,272,141 JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,122,825...10,148,404 JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,341,910...9,360,640 JBrowse link
G Sacs sacsin molecular chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr15:35,285,783...35,370,335 JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISS
ISO
OMIM:254900 | OMIM:310370 | OMIM:611726 | OMIM:612437 | OMIM:614018
ClinVar Annotator: match by term: Familial progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy
ClinVar Annotator: match by term: Familial progressive myoclonic epilepsy | ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
MouseDO
ClinVar
PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 More... NCBI chr14:15,558,271...15,609,813 JBrowse link
G Sdad1 SDA1 domain containing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,741,489...15,768,271 JBrowse link
G Serpini1 serpin family I member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 2:160,346,403...160,433,135 JBrowse link
G Shroom3 shroom family member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,099,415...15,396,832 JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,947,104...9,958,729 JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,584,410...11,602,429 JBrowse link
G Slc37a1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,360,501...9,433,895 JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,114,632...11,147,532 JBrowse link
G Spatc1l spermatogenesis and centriole associated 1-like ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,074,040...12,083,873 JBrowse link
G Stbd1 starch binding domain 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,470,452...15,473,857 JBrowse link
G Sumo3 small ubiquitin-like modifier 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,009,730...11,020,502 JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr10:13,205,819...13,236,013 JBrowse link
G Tff1 trefoil factor 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,235,736...9,239,597 JBrowse link
G Tff2 trefoil factor 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,217,110...9,220,979 JBrowse link
G Tff3 trefoil factor 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,193,259...9,197,969 JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,254,102...9,273,808 JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:160,097,984...160,104,108 JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,438,404...10,498,740 JBrowse link
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,703,568...10,753,189 JBrowse link
G Tsc1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17484760 NCBI chr 3:32,367,434...32,416,565 JBrowse link
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,771,806...10,837,419 JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,742,904...9,753,840 JBrowse link
G Ubash3a ubiquitin associated and SH3 domain containing, A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,291,471...9,334,685 JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,983,734...11,005,468 JBrowse link
G Umodl1 uromodulin-like 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,027,751...9,087,133 JBrowse link
G Uso1 USO1 vesicle transport factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,866,638...15,932,185 JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,587,205...9,611,434 JBrowse link
G Wnt3 Wnt family member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:21549339 PMID:28492532 NCBI chr10:89,180,224...89,224,195 JBrowse link
G Wnt9b Wnt family member 9B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:21549339 PMID:28492532 NCBI chr10:89,135,362...89,157,065 JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,165,192...12,174,713 JBrowse link
G Zbtb21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr11:37,312,337...37,327,040 JBrowse link
progressive myoclonus epilepsy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Early-onset Lafora body disease ClinVar PMID:28492532 NCBI chr14:11,541,718...11,682,110 JBrowse link
G Prdm8 PR/SET domain 8 ISO ClinVar Annotator: match by term: Early-onset Lafora body disease | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10 OMIM
ClinVar
PMID:22961547 PMID:25741868 PMID:28492532 NCBI chr14:11,403,202...11,424,059 JBrowse link
Progressive Myoclonus Epilepsy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 11 | ClinVar Annotator: match by term: SEMA6B-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:32169168 PMID:35604360 NCBI chr 9:950,939...967,905 JBrowse link
Progressive Myoclonus Epilepsy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 ClinVar PMID:25741868 PMID:33085104 NCBI chr19:34,110,724...34,161,531 JBrowse link
G Slc7a6os solute carrier family 7, member 6 opposite strand ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 OMIM
ClinVar
PMID:25741868 PMID:33085104 NCBI chr19:34,101,978...34,110,666 JBrowse link
progressive myoclonus epilepsy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cstb cystatin B ISO OMIM NCBI chr20:10,245,462...10,247,505 JBrowse link
progressive myoclonus epilepsy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prickle1 prickle planar cell polarity protein 1 ISO
ISS
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B | ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia
OMIM:612437
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18976727 PMID:20301774 More... NCBI chr 7:124,639,142...124,735,027 JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B ClinVar PMID:25401298 PMID:25741868 PMID:27281533 PMID:28492532 PMID:30335140 NCBI chr10:13,205,819...13,236,013 JBrowse link
progressive myoclonus epilepsy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:181,156,071...181,169,458 JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 3, with intracellular inclusions OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17455289 PMID:17576681 PMID:18414213 More... NCBI chr12:26,520,969...26,532,327 JBrowse link
progressive myoclonus epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnh8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome ClinVar PMID:25741868 NCBI chr 9:5,506,044...5,945,828 JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome ClinVar PMID:25741868 NCBI chr 3:168,427,247...168,465,349 JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 4, with or without renal failure | ClinVar Annotator: match by term: SCARB2-related condition OMIM
ClinVar
PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 More... NCBI chr14:15,558,271...15,609,813 JBrowse link
progressive myoclonus epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:142,736,636...142,792,999 JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr 6:12,316,190...12,333,505 JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5
ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:142,792,119...142,808,933 JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 ClinVar PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 More... NCBI chr 4:124,869,655...125,214,862 JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 ClinVar PMID:21689831 PMID:25741868 PMID:28492532 NCBI chr 1:243,867,568...243,874,802 JBrowse link
progressive myoclonus epilepsy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: GOSR2-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 OMIM
ClinVar
PMID:16199547 PMID:19057520 PMID:21549339 PMID:23449775 PMID:24458321 More... NCBI chr10:89,085,323...89,105,665 JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 ClinVar PMID:22200994 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr13:83,654,402...83,671,474 JBrowse link
progressive myoclonus epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:98,528,067...98,546,647 JBrowse link
G Gtf2h1 general transcription factor IIH subunit 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,321,417...97,349,455 JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,281,626...97,320,945 JBrowse link
G Igsf22 immunoglobulin superfamily member 22 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,601,938...97,618,144 JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: KCNC1-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25363768 PMID:25401298 PMID:25741868 More... NCBI chr 1:96,902,953...96,944,744 JBrowse link
G Ldha lactate dehydrogenase A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,371,823...97,381,247 JBrowse link
G Ldhc lactate dehydrogenase C ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,385,984...97,403,382 JBrowse link
G Mrgprb2 MAS-related GPR, member B2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:98,401,140...98,403,162 JBrowse link
G Mrgprx1 MAS related GPR family member X1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,806,099...97,807,070 JBrowse link
G Mrgprx2 MAS related GPR family member X2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:98,116,192...98,135,534 JBrowse link
G Mrgprx3 MAS related GPR family member X3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,720,377...97,746,953 JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:106,021,161...106,023,871 JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:96,746,336...96,815,416 JBrowse link
G Ptpn5 protein tyrosine phosphatase, non-receptor type 5 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,620,638...97,681,186 JBrowse link
G Saa4 serum amyloid A4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,247,580...97,251,882 JBrowse link
G Saal1 serum amyloid A-like 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,198,685...97,218,131 JBrowse link
G Sergef secretion regulating guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:96,949,660...97,152,529 JBrowse link
G Spty2d1 SPT2 chromatin protein domain containing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,531,495...97,549,616 JBrowse link
G Tmem86a transmembrane protein 86A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,595,910...97,600,260 JBrowse link
G Tph1 tryptophan hydroxylase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,157,375...97,178,415 JBrowse link
G Tsg101 tumor susceptibility 101 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:106,549,035...106,578,859 JBrowse link
G Uevld UEV and lactate/malate dehydrogenase domains ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,454,188...97,486,004 JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:96,695,303...96,743,671 JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:98,487,319...98,525,906 JBrowse link
progressive myoclonus epilepsy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc6 armadillo repeat containing 6 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,191,106...19,201,528 JBrowse link
G Borcs8 BLOC-1 related complex subunit 8 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,274,305...19,280,969 JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19243074 PMID:24033266 More... NCBI chr16:19,131,271...19,146,480 JBrowse link
G Comp cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,047,206...19,055,584 JBrowse link
G Cope COPI coat complex subunit epsilon ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,148,832...19,159,052 JBrowse link
G Ddx49 DEAD-box helicase 49 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,125,388...19,133,042 JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19243074 PMID:24033266 More... NCBI chr16:19,131,271...19,146,480 JBrowse link
G Homer3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,132,177...19,142,739 JBrowse link
G Mef2b myocyte enhancer factor 2B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,286,951...19,305,547 JBrowse link
G Nr2c2ap nuclear receptor 2C2-associated protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,288,454...19,290,940 JBrowse link
G Rfxank regulatory factor X-associated ankyrin-containing protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,280,857...19,288,886 JBrowse link
G Slc25a42 solute carrier family 25, member 42 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,247,874...19,286,598 JBrowse link
G Sugp2 SURP and G patch domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,159,951...19,191,412 JBrowse link
G Tmem161a transmembrane protein 161A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,237,638...19,248,151 JBrowse link
G Upf1 UPF1, RNA helicase and ATPase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,076,594...19,097,365 JBrowse link
progressive myoclonus epilepsy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd17a abhydrolase domain containing 17A, depalmitoylase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,124,332...9,132,762 JBrowse link
G Adamtsl5 ADAMTS-like 5 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,362,623...9,371,248 JBrowse link
G Adat3 adenosine deaminase, tRNA-specific 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,109,070...9,113,673 JBrowse link
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,557,451...9,559,867 JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,970,249...9,005,651 JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:10,043,010...10,065,037 JBrowse link
G Atp8b3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,175,544...9,195,449 JBrowse link
G Btbd2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,058,609...9,075,341 JBrowse link
G C7h19orf25 similar to human chromosome 19 open reading frame 25 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,390,255...9,392,383 JBrowse link
G Csnk1g2 casein kinase 1, gamma 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,727,430...9,746,341 JBrowse link
G Diras1 DIRAS family GTPase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,687,964...8,692,828 JBrowse link
G Dot1l DOT1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,918,764...8,959,474 JBrowse link
G Gadd45b growth arrest and DNA-damage-inducible, beta ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,428,689...9,430,991 JBrowse link
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,814,285...8,828,628 JBrowse link
G Gng7 G protein subunit gamma 7 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,348,148...9,411,924 JBrowse link
G Izumo4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,007,276...9,010,428 JBrowse link
G Klf16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,138,503...9,148,322 JBrowse link
G Lingo3 leucine rich repeat and Ig domain containing 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,869,025...8,878,431 JBrowse link
G Lmnb2 lamin B2 susceptibility ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar
OMIM
PMID:9536098 PMID:16826530 PMID:17576681 PMID:22768673 PMID:22995991 More... NCBI chr 7:8,792,628...8,808,665 JBrowse link
G Lsm7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,507,373...9,509,787 JBrowse link
G Mbd3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,961,053...9,970,845 JBrowse link
G Mex3d mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,325,575...9,332,705 JBrowse link
G Mknk2 MAPK interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,690,385...9,701,527 JBrowse link
G Mob3a MOB kinase activator 3A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,010,490...9,027,888 JBrowse link
G Oaz1 ornithine decarboxylase antizyme 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,534,530...9,536,990 JBrowse link
G Onecut3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,199,997...9,219,303 JBrowse link
G Pcsk4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,381,366...9,389,589 JBrowse link
G Plekhj1 pleckstrin homology domain containing J1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,915,492...8,920,491 JBrowse link
G Plk5 polo-like kinase 5 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,997,453...10,006,959 JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,373,927...9,380,845 JBrowse link
G Rexo1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,154,050...9,174,035 JBrowse link
G Scamp4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,101,504...9,113,929 JBrowse link
G Sf3a2 splicing factor 3A subunit 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,909,507...8,916,104 JBrowse link
G Sgta small glutamine rich tetratricopeptide repeat co-chaperone alpha ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,653,681...8,670,460 JBrowse link
G Slc39a3 solute carrier family 39 member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,676,845...8,682,846 JBrowse link
G Sppl2b signal peptide peptidase-like 2B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,843,918...8,856,642 JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,931,251...9,952,994 JBrowse link
G Thop1 thimet oligopeptidase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,283,617...9,295,957 JBrowse link
G Timm13 translocase of inner mitochondrial membrane 13 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,459,490...9,460,849 JBrowse link
G Tle2 TLE family member 2, transcriptional corepressor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,119,049...8,135,385 JBrowse link
G Tle5 TLE family member 5, transcriptional modulator ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,794,123...8,801,056 JBrowse link
G Tle6 TLE family member 6, subcortical maternal complex member ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,107,050...8,118,639 JBrowse link
G Tmprss9 transmembrane serine protease 9 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,810,321...8,831,177 JBrowse link
G Uqcr11 ubiquinol-cytochrome c reductase, complex III subunit XI ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,305,042...9,309,753 JBrowse link
G Zfp77 zinc finger protein 77 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:7,269,879...7,316,286 JBrowse link
spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY | ClinVar Annotator: match by term: Spinal muscular atrophy with progressive myoclonic epilepsy OMIM
ClinVar
PMID:16199547 PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 More... NCBI chr16:57,669,927...57,701,349 JBrowse link
Unverricht-Lundborg syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cstb cystatin B ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
CTD
ClinVar
MouseDO
OMIM
PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chr20:10,245,462...10,247,505 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            epilepsy 2932
              Myoclonic Epilepsies 404
                Ataxia with Myoclonic Epilepsy and Presenile Dementia 0
                Congenital Deafness and Familial Myoclonic Epilepsy 0
                Dravet syndrome 21
                Feigenbaum Bergeron Richardson Syndrome 0
                Hydroxylysinuria 0
                Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 0
                Myoclonic Epilepsy, Familial Infantile 4
                Myoclonic Epilepsy, Hartung Type 0
                NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES 1
                Photoparoxysmal Response 3 0
                Spastic Paraplegia with Myoclonic Epilepsy 0
                early myoclonic encephalopathy + 16
                familial adult myoclonic epilepsy + 96
                familial encephalopathy with neuroserpin inclusion bodies 3
                juvenile myoclonic epilepsy + 13
                myoclonic-atonic epilepsy 49
                progressive myoclonus epilepsy + 208
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            movement disease 2633
              Dyskinesias 2234
                Myoclonus 410
                  Myoclonic Epilepsies 404
                    Ataxia with Myoclonic Epilepsy and Presenile Dementia 0
                    Congenital Deafness and Familial Myoclonic Epilepsy 0
                    Dravet syndrome 21
                    Feigenbaum Bergeron Richardson Syndrome 0
                    Hydroxylysinuria 0
                    Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 0
                    Myoclonic Epilepsy, Familial Infantile 4
                    Myoclonic Epilepsy, Hartung Type 0
                    NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES 1
                    Photoparoxysmal Response 3 0
                    Spastic Paraplegia with Myoclonic Epilepsy 0
                    early myoclonic encephalopathy + 16
                    familial adult myoclonic epilepsy + 96
                    familial encephalopathy with neuroserpin inclusion bodies 3
                    juvenile myoclonic epilepsy + 13
                    myoclonic-atonic epilepsy 49
                    progressive myoclonus epilepsy + 208
paths to the root