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:Myoclonus
go back to main search page
Accession:DOID:9007722 term browser browse the term
Definition:Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).
Synonyms:exact_synonym: Intention Myoclonus;   Myoclonic Jerk;   Myoclonic Jerking;   Myoclonic Jerks;   Myoclonus Simplex;   Nocturnal Myoclonus;   Oculopalatal Myoclonus;   Palatal Myoclonus;   Polymyoclonus;   action myoclonus;   eyelid myoclonus;   lower extremity myoclonus;   segmental myoclonus;   sleep myoclonus;   upper extremity myoclonus
 primary_id: MESH:D009207
 xref: MIM:PS614937


GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Myoclonus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecp2 methyl-CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19559301 NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Myoclonus ClinVar NCBI chrNW_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Myoclonus ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971
JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Myoclonus ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224
JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Myoclonus ClinVar PMID:25741868 NCBI chrNW_004955437:516,713...561,188
Ensembl chrNW_004955437:511,963...553,856
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 chrNW_004955413:4,511,251...4,524,037
Ensembl chrNW_004955413:4,516,532...4,522,831
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 chrNW_004955476:11,325,877...11,331,447
Ensembl chrNW_004955476:11,326,626...11,331,360
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3 OMIM
ClinVar
PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25033742 More... NCBI chrNW_004955476:11,334,508...11,338,781
Ensembl chrNW_004955476:11,334,507...11,338,835
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 chrNW_004955460:12,662,005...12,674,223
Ensembl chrNW_004955460:12,662,779...12,673,287
JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chrNW_004955589:855,715...881,123
Ensembl chrNW_004955589:856,618...881,150
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar NCBI chrNW_004955408:15,766,161...15,857,121
Ensembl chrNW_004955408:15,765,984...15,857,244
JBrowse link
G Lysmd1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chrNW_004955588:517,313...526,857
Ensembl chrNW_004955588:517,313...526,856
JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chrNW_004955588:648,180...679,374
Ensembl chrNW_004955588:648,180...679,374
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 chrNW_004955588:555,818...605,459
Ensembl chrNW_004955588:555,821...605,723
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 chrNW_004955589:920,729...975,242
Ensembl chrNW_004955589:920,508...976,366
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 chrNW_004955589:976,216...978,566
Ensembl chrNW_004955589:976,321...978,617
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 chrNW_004955588:607,763...618,040
Ensembl chrNW_004955588:607,289...618,040
JBrowse link
G Rfx5 regulatory factor X5 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chrNW_004955588:687,086...695,696
Ensembl chrNW_004955588:689,170...695,695
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO 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
ClinVar
PMID:1893009 PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 More... NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
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 chrNW_004955468:4,375,517...4,383,383
Ensembl chrNW_004955468:4,375,157...4,383,502
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar NCBI chrNW_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200
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 chrNW_004955449:7,858,156...8,017,569
Ensembl chrNW_004955449:7,923,801...8,017,569
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 chrNW_004955588:703,928...713,941
Ensembl chrNW_004955588:703,928...714,763
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 chrNW_004955589:719,892...799,367
Ensembl chrNW_004955589:719,898...799,366
JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chrNW_004955588:530,288...535,789
Ensembl chrNW_004955588:526,380...535,895
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 chrNW_004955588:514,567...517,314
Ensembl chrNW_004955588:514,567...517,314
JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chrNW_004955589:817,001...854,492
Ensembl chrNW_004955589:817,001...854,492
JBrowse link
G Vps72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chrNW_004955588:537,122...550,564
Ensembl chrNW_004955588:536,788...551,241
JBrowse link
G Znf687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chrNW_004955588:639,677...647,978
Ensembl chrNW_004955588:642,521...647,396
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 chrNW_004955442:14,864,935...14,890,802
Ensembl chrNW_004955442:14,865,954...14,890,709
JBrowse link
G Diras1 DIRAS family GTPase 1 ISO Epilepsy, generalized myoclonic, with photosensitivity OMIA PMID:28223533 PMID:29194766 PMID:38003185 NCBI chrNW_004955495:5,002,803...5,005,203
Ensembl chrNW_004955495:5,004,548...5,005,144
JBrowse link
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955425:16,055,748...16,068,429
Ensembl chrNW_004955425:16,055,748...16,060,048
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 chrNW_004955425:16,343,314...16,552,552
Ensembl chrNW_004955425:16,344,141...16,493,527
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 chrNW_004955479:2,062,607...2,545,576
Ensembl chrNW_004955479:2,062,608...2,543,125
JBrowse link
G Kit KIT proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955447:16,149,014...16,226,151
Ensembl chrNW_004955447:16,148,605...16,226,734
JBrowse link
G Nrbf2 nuclear receptor binding factor 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955425:16,330,115...16,336,798
Ensembl chrNW_004955425:16,330,114...16,340,621
JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:25326637 PMID:28492532 NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO 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 chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
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 chrNW_004955449:7,858,156...8,017,569
Ensembl chrNW_004955449:7,923,801...8,017,569
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 chrNW_004955476:11,334,508...11,338,781
Ensembl chrNW_004955476:11,334,507...11,338,835
JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955589:719,892...799,367
Ensembl chrNW_004955589:719,898...799,366
JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile
ClinVar PMID:18414213 PMID:22277662 PMID:23526554 PMID:24033266 PMID:24291220 More... NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224
JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955479:2,570,937...2,636,884
Ensembl chrNW_004955479:2,570,937...2,635,857
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 OMIM
ClinVar
PMID:25741868 NCBI chrNW_004955417:24,137,340...24,541,572
Ensembl chrNW_004955417:24,145,264...24,541,599
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 chrNW_004955470:3,711,075...3,714,450
Ensembl chrNW_004955470:3,711,031...3,714,241
JBrowse link
G Stard7 StAR related lipid transfer domain containing 7 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 OMIM
ClinVar
PMID:25741868 NCBI chrNW_004955470:3,771,410...3,790,667
Ensembl chrNW_004955470:3,770,817...3,790,667
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 OMIM
ClinVar
PMID:25741868 NCBI chrNW_004955426:228,807...278,888
Ensembl chrNW_004955426:228,788...278,888
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 chrNW_004955420:23,590,636...23,666,689
Ensembl chrNW_004955420:23,589,071...23,666,680
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 chrNW_004955406:38,939,167...38,955,647
Ensembl chrNW_004955406:38,936,588...38,955,352
JBrowse link
G Adora1 adenosine A1 receptor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,148,811...39,183,577
Ensembl chrNW_004955406:39,149,689...39,187,688
JBrowse link
G Arl8a ARF like GTPase 8A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,223,115...38,226,563
Ensembl chrNW_004955406:38,224,124...38,226,542
JBrowse link
G Ascl5 achaete-scute family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,264,753...37,265,337 JBrowse link
G Atp2b4 ATPase plasma membrane Ca2+ transporting 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,552,034...39,645,694
Ensembl chrNW_004955406:39,552,019...39,645,694
JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,706,088...41,716,173
Ensembl chrNW_004955406:41,705,305...41,716,173
JBrowse link
G Btg2 BTG anti-proliferation factor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,303,221...39,307,308
Ensembl chrNW_004955406:39,303,175...39,308,778
JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,201,180...37,263,328
Ensembl chrNW_004955406:37,201,180...37,263,371
JBrowse link
G Camsap2 calmodulin regulated spectrin associated protein family member 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:36,958,337...37,055,748
Ensembl chrNW_004955406:36,957,523...37,055,748
JBrowse link
G Cdk18 cyclin dependent kinase 18 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,228,802...41,256,413
Ensembl chrNW_004955406:41,228,678...41,252,543
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,195,101...39,201,808
Ensembl chrNW_004955406:39,191,073...39,202,020
JBrowse link
G Chit1 chitinase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,229,161...39,253,328
Ensembl chrNW_004955406:39,229,356...39,241,540
JBrowse link
G Cntn2 contactin 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 OMIM
ClinVar
PMID:9536098 PMID:11178983 PMID:16199547 PMID:17576681 PMID:23518707 More... NCBI chrNW_004955406:40,831,897...40,862,445
Ensembl chrNW_004955406:40,831,850...40,858,569
JBrowse link
G Csrp1 cysteine and glycine rich protein 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,595,481...37,615,384
Ensembl chrNW_004955406:37,595,420...37,615,612
JBrowse link
G Ctse cathepsin E ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,641,412...41,653,261
Ensembl chrNW_004955406:41,641,311...41,653,296
JBrowse link
G Ddx59 DEAD-box helicase 59 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:36,861,420...36,885,746
Ensembl chrNW_004955406:36,861,259...36,885,746
JBrowse link
G Dstyk dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,922,972...40,971,433
Ensembl chrNW_004955406:40,922,972...40,971,582
JBrowse link
G Dyrk3 dual specificity tyrosine phosphorylation regulated kinase 3 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:42,190,043...42,199,323
Ensembl chrNW_004955406:42,190,043...42,199,730
JBrowse link
G Eif2d eukaryotic translation initiation factor 2D ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:42,163,508...42,181,482
Ensembl chrNW_004955406:42,163,632...42,181,337
JBrowse link
G Elf3 E74 like ETS transcription factor 3 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,126,633...38,131,292
Ensembl chrNW_004955406:38,126,349...38,132,123
JBrowse link
G Elk4 ETS transcription factor ELK4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,325,921...41,333,503
Ensembl chrNW_004955406:41,325,921...41,334,359
JBrowse link
G Etnk2 ethanolamine kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,996,850...40,013,753
Ensembl chrNW_004955406:39,996,850...40,013,753
JBrowse link
G Fam72a family with sequence similarity 72 member A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,788,278...41,801,141 JBrowse link
G Fmod fibromodulin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,328,743...39,340,113
Ensembl chrNW_004955406:39,328,743...39,340,258
JBrowse link
G Golt1a golgi transport 1A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,049,060...40,061,902
Ensembl chrNW_004955406:40,050,069...40,053,369
JBrowse link
G Gpr25 G protein-coupled receptor 25 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,065,511...37,066,771
Ensembl chrNW_004955406:37,065,610...37,066,674
JBrowse link
G Gpr37l1 G protein-coupled receptor 37 like 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,214,490...38,223,281
Ensembl chrNW_004955406:38,214,423...38,223,281
JBrowse link
G Igfn1 immunoglobulin like and fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,332,936...37,363,694 JBrowse link
G Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:42,056,014...42,077,701
Ensembl chrNW_004955406:42,056,014...42,077,701
JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
JBrowse link
G Inava innate immunity activator ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,086,302...37,107,221
Ensembl chrNW_004955406:37,086,302...37,107,221
JBrowse link
G Ipo9 importin 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,898,415...37,946,991
Ensembl chrNW_004955406:37,897,864...37,946,991
JBrowse link
G Kdm5b lysine demethylase 5B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,755,220...38,823,094
Ensembl chrNW_004955406:38,755,220...38,823,088
JBrowse link
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:36,732,135...36,791,756
Ensembl chrNW_004955406:36,737,484...36,791,756
JBrowse link
G Kif21b kinesin family member 21B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,139,168...37,187,543
Ensembl chrNW_004955406:37,139,168...37,187,543
JBrowse link
G Kiss1 KiSS-1 metastasis suppressor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,043,139...40,045,973
Ensembl chrNW_004955406:40,043,133...40,045,386
JBrowse link
G Klhdc8a kelch domain containing 8A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,080,154...41,087,381
Ensembl chrNW_004955406:41,077,925...41,087,574
JBrowse link
G Klhl12 kelch like family member 12 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,903,233...38,931,756
Ensembl chrNW_004955406:38,900,022...38,931,374
JBrowse link
G Lad1 ladinin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,510,675...37,526,178
Ensembl chrNW_004955406:37,510,298...37,526,225
JBrowse link
G Lax1 lymphocyte transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,656,549...39,667,448
Ensembl chrNW_004955406:39,656,128...39,670,244
JBrowse link
G Lemd1 LEM domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,126,284...41,181,007
Ensembl chrNW_004955406:41,126,359...41,153,742
JBrowse link
G Lgr6 leucine rich repeat containing G protein-coupled receptor 6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,274,998...38,381,677
Ensembl chrNW_004955406:38,274,958...38,383,822
JBrowse link
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,967,098...38,012,908
Ensembl chrNW_004955406:37,964,643...38,013,405
JBrowse link
G LOC102004351 NADH-cytochrome b5 reductase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,958,766...38,964,597
Ensembl chrNW_004955406:38,955,997...38,965,127
JBrowse link
G Lrrn2 leucine rich repeat neuronal 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,442,680...40,499,945 JBrowse link
G Mapkapk2 MAPK activated protein kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:42,231,858...42,276,477
Ensembl chrNW_004955406:42,231,858...42,276,477
JBrowse link
G Mdm4 MDM4 regulator of p53 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,346,617...40,387,977
Ensembl chrNW_004955406:40,346,588...40,387,977
JBrowse link
G Mfsd4a major facilitator superfamily domain containing 4A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,286,679...41,315,666
Ensembl chrNW_004955406:41,286,679...41,322,158
JBrowse link
G Mybph myosin binding protein H ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,174,864...39,191,969
Ensembl chrNW_004955406:39,184,691...39,191,741
JBrowse link
G Myog myogenin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,099,044...39,102,479
Ensembl chrNW_004955406:39,099,716...39,102,501
JBrowse link
G Nav1 neuron navigator 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,644,715...37,896,759
Ensembl chrNW_004955406:37,644,421...37,890,151
JBrowse link
G Nfasc neurofascin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,632,971...40,814,930
Ensembl chrNW_004955406:40,743,872...40,808,962
JBrowse link
G Nuak2 NUAK family kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,050,396...41,069,066
Ensembl chrNW_004955406:41,051,419...41,069,066
JBrowse link
G Nucks1 nuclear casein kinase and cyclin dependent kinase substrate 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,412,855...41,448,551
Ensembl chrNW_004955406:41,417,983...41,449,177
JBrowse link
G Optc opticin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,446,875...39,458,571
Ensembl chrNW_004955406:39,445,677...39,453,906
JBrowse link
G Phlda3 pleckstrin homology like domain family A member 3 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,579,006...37,582,230
Ensembl chrNW_004955406:37,579,006...37,582,230
JBrowse link
G Pik3c2b phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,247,690...40,317,556
Ensembl chrNW_004955406:40,247,382...40,317,556
JBrowse link
G Pkp1 plakophilin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,420,019...37,465,588
Ensembl chrNW_004955406:37,419,856...37,465,655
JBrowse link
G Plekha6 pleckstrin homology domain containing A6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,066,260...40,200,629
Ensembl chrNW_004955406:40,066,206...40,134,597
JBrowse link
G Pm20d1 peptidase M20 domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,522,800...41,544,332
Ensembl chrNW_004955406:41,518,526...41,544,348
JBrowse link
G Ppfia4 PTPRF interacting protein alpha 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,047,069...39,094,663
Ensembl chrNW_004955406:39,047,019...39,092,597
JBrowse link
G Ppp1r12b protein phosphatase 1 regulatory subunit 12B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,405,297...38,636,503
Ensembl chrNW_004955406:38,405,535...38,629,688
JBrowse link
G Ppp1r15b protein phosphatase 1 regulatory subunit 15B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,232,516...40,238,711
Ensembl chrNW_004955406:40,232,607...40,238,901
JBrowse link
G Prelp proline and arginine rich end leucine rich repeat protein ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,429,845...39,442,577
Ensembl chrNW_004955406:39,429,690...39,443,299
JBrowse link
G Ptpn7 protein tyrosine phosphatase non-receptor type 7 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,233,409...38,249,940
Ensembl chrNW_004955406:38,232,589...38,250,195
JBrowse link
G Rab29 RAB29, member RAS oncogene family ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,452,733...41,468,467
Ensembl chrNW_004955406:41,462,534...41,468,948
JBrowse link
G Rabif RAB interacting factor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,883,050...38,893,012
Ensembl chrNW_004955406:38,883,050...38,893,251
JBrowse link
G Rassf5 Ras association domain family member 5 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:42,086,081...42,159,204
Ensembl chrNW_004955406:42,086,081...42,159,204
JBrowse link
G Rbbp5 RB binding protein 5, histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,868,290...40,904,343
Ensembl chrNW_004955406:40,867,527...40,904,349
JBrowse link
G Ren renin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286
JBrowse link
G Rhex regulator of hemoglobinization and erythroid cell expansion ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,687,577...41,703,282
Ensembl chrNW_004955406:41,687,455...41,705,014
JBrowse link
G Rnpep arginyl aminopeptidase ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,103,701...38,122,162
Ensembl chrNW_004955406:38,103,426...38,122,358
JBrowse link
G Shisa4 shisa family member 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,959,156...37,961,972
Ensembl chrNW_004955406:37,957,326...37,962,468
JBrowse link
G Slc26a9 solute carrier family 26 member 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,559,424...41,587,748
Ensembl chrNW_004955406:41,557,275...41,582,753
JBrowse link
G Slc41a1 solute carrier family 41 member 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,481,831...41,502,992
Ensembl chrNW_004955406:41,481,831...41,502,992
JBrowse link
G Slc45a3 solute carrier family 45 member 3 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,362,077...41,381,981
Ensembl chrNW_004955406:41,360,380...41,382,115
JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,725,841...39,732,527
Ensembl chrNW_004955406:39,725,446...39,734,586
JBrowse link
G Sox13 SRY-box transcription factor 13 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,959,458...39,994,214
Ensembl chrNW_004955406:39,966,055...39,994,214
JBrowse link
G Srgap2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:41,801,235...42,050,731
Ensembl chrNW_004955406:41,801,235...42,050,731
JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,638,192...38,743,077
Ensembl chrNW_004955406:38,643,911...38,743,222
JBrowse link
G Timm17a translocase of inner mitochondrial membrane 17A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,020,886...38,031,651
Ensembl chrNW_004955406:38,020,850...38,031,651
JBrowse link
G Tmcc2 transmembrane and coiled-coil domain family 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,985,771...41,025,929
Ensembl chrNW_004955406:40,985,478...41,025,955
JBrowse link
G Tmem183a transmembrane protein 183A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,029,390...39,044,502
Ensembl chrNW_004955406:39,029,390...39,046,339
JBrowse link
G Tmem81 transmembrane protein 81 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:40,865,574...40,867,602 JBrowse link
G Tmem9 transmembrane protein 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,279,885...37,299,196
Ensembl chrNW_004955406:37,279,694...37,314,251
JBrowse link
G Tnni1 troponin I1, slow skeletal type ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,535,397...37,554,868
Ensembl chrNW_004955406:37,534,453...37,554,868
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:37,491,462...37,507,360
Ensembl chrNW_004955406:37,487,154...37,507,639
JBrowse link
G Ube2t ubiquitin conjugating enzyme E2 T ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:38,391,824...38,400,946
Ensembl chrNW_004955406:38,391,785...38,400,995
JBrowse link
G Zbed6 zinc finger BED-type containing 6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,679,365...39,683,454
Ensembl chrNW_004955406:39,680,253...39,683,192
JBrowse link
G Zc3h11a zinc finger CCCH-type containing 11A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chrNW_004955406:39,678,544...39,718,062 JBrowse link
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 chrNW_004955493:3,057,035...3,243,668
Ensembl chrNW_004955493:3,090,088...3,243,731
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 ClinVar
OMIM
PMID:25741868 NCBI chrNW_004955471:12,670,837...12,838,910
Ensembl chrNW_004955471:12,670,764...12,815,430
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 chrNW_004955448:16,866,577...16,887,215
Ensembl chrNW_004955448:16,864,031...16,887,626
JBrowse link
G Serpinb7 serpin family B member 7 ISO RGD PMID:16782060 RGD:7207386 NCBI chrNW_004955402:47,599,503...47,649,537
Ensembl chrNW_004955402:47,599,150...47,649,885
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies OMIM
ClinVar
PMID:9536098 PMID:11138927 PMID:11880376 PMID:12103288 PMID:15090543 More... NCBI chrNW_004955448:16,947,375...16,982,114
Ensembl chrNW_004955448:16,947,403...16,984,130
JBrowse link
Familial Myoclonus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nol3 nucleolar protein 3 ISO ClinVar Annotator: match by term: Myoclonus, familial, 1 OMIM
ClinVar
PMID:22926851 PMID:25741868 NCBI chrNW_004955484:9,443,090...9,447,142
Ensembl chrNW_004955484:9,443,090...9,447,095
JBrowse link
Familial Myoclonus 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Myoclonus, familial, 2 OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:27875746 PMID:28492532 PMID:29726066 More... NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971
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 chrNW_004955420:23,138,558...23,152,462
Ensembl chrNW_004955420:23,138,605...23,152,311
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 alpha1 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 OMIM
ClinVar
PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 More... NCBI chrNW_004955408:15,608,984...15,662,309
Ensembl chrNW_004955408:15,608,984...15,662,597
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 chrNW_004955416:30,687,518...30,798,700
Ensembl chrNW_004955416:30,687,478...30,798,700
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 chrNW_004955411:5,624,510...5,676,165
Ensembl chrNW_004955411:5,624,053...5,677,534
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 chrNW_004955449:8,896,454...9,009,304
Ensembl chrNW_004955449:8,896,454...9,009,304
JBrowse link
Infantile Polymyoclonus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Infantile polymyoclonus ClinVar PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 More... NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494
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 chrNW_004955437:1,584,890...1,592,486
Ensembl chrNW_004955437:1,584,479...1,592,826
JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chrNW_004955451:11,136,885...11,194,321
Ensembl chrNW_004955451:11,137,214...11,194,036
JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955440:17,364,996...17,497,446
Ensembl chrNW_004955440:17,371,321...17,497,616
JBrowse link
G Caprin1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:25741868 PMID:35979925 NCBI chrNW_004955422:12,126,893...12,170,877 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 chrNW_004955449:661,310...683,873
Ensembl chrNW_004955449:661,304...683,873
JBrowse link
G Efhc1 EF-hand domain containing 1 susceptibility ISO 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
ClinVar
PMID:8737649 PMID:9536098 PMID:12439895 PMID:15258581 PMID:16199547 More... NCBI chrNW_004955411:5,624,510...5,676,165
Ensembl chrNW_004955411:5,624,053...5,677,534
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chrNW_004955408:15,608,984...15,662,309
Ensembl chrNW_004955408:15,608,984...15,662,597
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 chrNW_004955422:23,104,752...23,251,250
Ensembl chrNW_004955422:23,101,795...23,148,999
JBrowse link
G Jrk Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chrNW_004955454:1,415,811...1,423,705
Ensembl chrNW_004955454:1,415,811...1,423,705
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 chrNW_004955411:2,997,726...3,065,106
Ensembl chrNW_004955411:3,019,525...3,068,090
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 ClinVar Annotator: match by term: Lafora disease ClinVar PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 More... NCBI chrNW_004955436:14,925,452...14,982,357
Ensembl chrNW_004955436:14,926,123...14,983,180
JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Epilepsy progressive myoclonic 2 | ClinVar Annotator: match by term: Lafora disease ClinVar PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16021330 More... NCBI chrNW_004955483:8,078,796...8,079,612 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 chrNW_004955483:8,052,867...8,072,235
Ensembl chrNW_004955483:8,052,849...8,072,764
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 chrNW_004955470:1,527,710...1,538,418
Ensembl chrNW_004955470:1,527,674...1,538,466
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004955470:1,486,936...1,491,888
Ensembl chrNW_004955470:1,486,967...1,491,947
JBrowse link
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 chrNW_004955413:26,067,463...26,084,669
Ensembl chrNW_004955413:26,067,516...26,088,527
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 chrNW_004955561:1,727,935...1,851,907
Ensembl chrNW_004955561:1,727,935...1,851,907
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 chrNW_004955561:1,545,921...1,554,423
Ensembl chrNW_004955561:1,545,576...1,554,618
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar NCBI chrNW_004955416:21,085,570...21,210,321
Ensembl chrNW_004955416:21,085,570...21,210,321
JBrowse link
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: myoclonic epilepsy ClinVar PMID:28492532 NCBI chrNW_004955403:49,970,398...49,989,095
Ensembl chrNW_004955403:49,970,398...49,989,137
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 chrNW_004955407:41,475,533...41,478,943
Ensembl chrNW_004955407:41,475,533...41,479,150
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 chrNW_004955436:14,925,452...14,982,357
Ensembl chrNW_004955436:14,926,123...14,983,180
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 chrNW_004955561:1,460,080...1,538,026
Ensembl chrNW_004955561:1,464,869...1,538,045
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,538,960...1,542,130
Ensembl chrNW_004955561:1,538,960...1,542,130
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 chrNW_004955561:1,676,475...1,682,205
Ensembl chrNW_004955561:1,676,576...1,681,812
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 chrNW_004955478:10,868,912...10,889,405
Ensembl chrNW_004955478:10,868,912...10,889,405
JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Myoclonic absence seizure ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955406:8,000,269...8,021,554
Ensembl chrNW_004955406:8,000,269...8,021,554
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 chrNW_004955561:1,585,842...1,650,268
Ensembl chrNW_004955561:1,585,827...1,653,197
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 chrNW_004955445:8,680,979...8,779,662
Ensembl chrNW_004955445:8,680,965...8,774,110
JBrowse link
G Lmnb2 lamin B2 ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:28492532 NCBI chrNW_004955495:4,826,653...4,851,984
Ensembl chrNW_004955495:4,828,638...4,851,928
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17275665 NCBI chrNW_004955467:2,422,181...2,456,925
Ensembl chrNW_004955467:2,423,659...2,457,307
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:6088243 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
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 chrNW_004955517:1,501,322...1,806,996
Ensembl chrNW_004955517:1,501,706...1,802,169
JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:25741868 PMID:33085104 NCBI chrNW_004955484:8,299,427...8,352,465
Ensembl chrNW_004955484:8,299,427...8,340,287
JBrowse link
G Rapgef2 Rap guanine nucleotide exchange factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chrNW_004955471:12,670,837...12,838,910
Ensembl chrNW_004955471:12,670,764...12,815,430
JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chrNW_004955417:24,137,340...24,541,572
Ensembl chrNW_004955417:24,145,264...24,541,599
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 chrNW_004955433:884,740...962,932
Ensembl chrNW_004955433:884,740...962,932
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Myoclonic encephalopathy | ClinVar Annotator: match by term: myoclonic epilepsy ClinVar PMID:17347258 PMID:28492532 PMID:35571373 NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
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 chrNW_004955561:1,707,053...1,723,715
Ensembl chrNW_004955561:1,707,053...1,723,862
JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25741868 NCBI chrNW_004955495:4,387,147...4,399,430
Ensembl chrNW_004955495:4,388,516...4,399,313
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25741868 NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511
JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy
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 chrNW_004955429:13,930,899...13,946,010
Ensembl chrNW_004955429:13,930,905...13,947,389
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 chrNW_004955429:13,774,455...13,880,690
Ensembl chrNW_004955429:13,774,455...13,880,690
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 chrNW_004955484:8,340,059...8,348,776
Ensembl chrNW_004955484:8,340,076...8,347,472
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 chrNW_004955537:3,258,076...3,458,742
Ensembl chrNW_004955537:3,258,076...3,458,742
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18469812 PMID:29929108 NCBI chrNW_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759
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 chrNW_004955561:1,653,471...1,673,260
Ensembl chrNW_004955561:1,653,471...1,671,407
JBrowse link
G Tnrc6a trinucleotide repeat containing adaptor 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chrNW_004955493:3,057,035...3,243,668
Ensembl chrNW_004955493:3,090,088...3,243,731
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 chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511
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 chrNW_004955436:14,925,452...14,982,357
Ensembl chrNW_004955436:14,926,123...14,983,180
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 chrNW_004955483:8,078,796...8,079,612 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 chrNW_004955483:8,078,796...8,079,612 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 chrNW_004955442:14,864,935...14,890,802
Ensembl chrNW_004955442:14,865,954...14,890,709
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 chrNW_004955447:16,149,014...16,226,151
Ensembl chrNW_004955447:16,148,605...16,226,734
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 chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081
JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy OMIM
ClinVar
PMID:10574461 PMID:10741954 PMID:18414213 PMID:20727515 PMID:20797691 More... NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224
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 chrNW_004955561:1,314,299...1,327,300
Ensembl chrNW_004955561:1,314,299...1,327,300
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 chrNW_004955555:869,508...892,510
Ensembl chrNW_004955555:869,325...893,542
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 chrNW_004955561:1,727,935...1,851,907
Ensembl chrNW_004955561:1,727,935...1,851,907
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 chrNW_004955561:1,545,921...1,554,423
Ensembl chrNW_004955561:1,545,576...1,554,618
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 chrNW_004955561:1,260,237...1,275,953
Ensembl chrNW_004955561:1,259,700...1,276,015
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 chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595
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 chrNW_004955561:1,282,970...1,292,710
Ensembl chrNW_004955561:1,282,970...1,294,972
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chrNW_004955543:577,078...594,076
Ensembl chrNW_004955543:587,321...592,544
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 chrNW_004955416:21,085,570...21,210,321
Ensembl chrNW_004955416:21,085,570...21,210,321
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 chrNW_004955561:1,363,907...1,376,144 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 chrNW_004955561:1,238,916...1,258,000
Ensembl chrNW_004955561:1,238,862...1,258,045
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 chrNW_004955561:1,423,229...1,430,679
Ensembl chrNW_004955561:1,423,405...1,433,314
JBrowse link
G Dnm1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chrNW_004955570:752,335...781,770
Ensembl chrNW_004955570:752,335...781,770
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 chrNW_004955561:1,442,953...1,459,988
Ensembl chrNW_004955561:1,442,953...1,459,988
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 chrNW_004955561:1,460,080...1,538,026
Ensembl chrNW_004955561:1,464,869...1,538,045
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,538,960...1,542,130
Ensembl chrNW_004955561:1,538,960...1,542,130
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 chrNW_004955420:15,783,184...16,310,743
Ensembl chrNW_004955420:16,070,096...16,306,103
JBrowse link
G Fmr1 Fragile X messenger ribonucleoprotein 1 ISO protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chrNW_004955498:566,741...594,837
Ensembl chrNW_004955498:566,688...595,360
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 chrNW_004955561:1,676,475...1,682,205
Ensembl chrNW_004955561:1,676,576...1,681,812
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 chrNW_004955561:1,410,100...1,423,041
Ensembl chrNW_004955561:1,410,941...1,423,023
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 chrNW_004955561:1,397,286...1,409,999
Ensembl chrNW_004955561:1,397,287...1,409,999
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 chrNW_004955475:285,977...369,380
Ensembl chrNW_004955475:284,168...369,400
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 chrNW_004955561:1,585,842...1,650,268
Ensembl chrNW_004955561:1,585,827...1,653,197
JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,388,592...1,392,107
Ensembl chrNW_004955561:1,388,592...1,392,107
JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar NCBI chrNW_004955456:13,751,135...13,773,722
Ensembl chrNW_004955456:13,750,889...13,774,021
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 chrNW_004955561:1,195,689...1,237,852
Ensembl chrNW_004955561:1,195,650...1,237,997
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 chrNW_004955561:1,277,362...1,282,949
Ensembl chrNW_004955561:1,277,365...1,282,793
JBrowse link
G Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955507:2,805,782...2,918,664
Ensembl chrNW_004955507:2,801,970...2,918,670
JBrowse link
G Praf2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chrNW_004955543:594,662...597,695
Ensembl chrNW_004955543:594,606...598,264
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 chrNW_004955561:1,430,767...1,437,981
Ensembl chrNW_004955561:1,431,375...1,435,670
JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chrNW_004955409:25,336,503...25,582,881
Ensembl chrNW_004955409:25,337,699...25,583,657
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 chrNW_004955442:10,345,261...10,694,602
Ensembl chrNW_004955442:10,344,365...10,908,434
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 chrNW_004955561:1,358,003...1,361,634
Ensembl chrNW_004955561:1,358,197...1,361,619
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 chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
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 chrNW_004955468:4,375,517...4,383,383
Ensembl chrNW_004955468:4,375,157...4,383,502
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 chrNW_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200
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 chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971
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 chrNW_004955561:1,707,053...1,723,715
Ensembl chrNW_004955561:1,707,053...1,723,862
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 chrNW_004955467:12,181,555...12,217,280
Ensembl chrNW_004955467:12,182,766...12,216,842
JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy | 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 chrNW_004955429:13,930,899...13,946,010
Ensembl chrNW_004955429:13,930,905...13,947,389
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 chrNW_004955429:13,774,455...13,880,690
Ensembl chrNW_004955429:13,774,455...13,880,690
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 chrNW_004955406:41,801,235...42,050,731
Ensembl chrNW_004955406:41,801,235...42,050,731
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 chrNW_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759
JBrowse link
G Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chrNW_004955561:1,304,222...1,314,092
Ensembl chrNW_004955561:1,304,232...1,348,121
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 chrNW_004955561:1,653,471...1,673,260
Ensembl chrNW_004955561:1,653,471...1,671,407
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 chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224
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 chrNW_004955561:1,330,378...1,353,217 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 chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963
JBrowse link
Neonatal Intractable Myoclonus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: KIF5A-related intractable neonatal myoclonus | ClinVar Annotator: match by term: Myoclonus, intractable, neonatal OMIM
ClinVar
PMID:18500496 PMID:18853458 PMID:21623771 PMID:22552817 PMID:22714410 More... NCBI chrNW_004955458:5,264,274...5,310,962
Ensembl chrNW_004955458:5,287,111...5,310,962
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 chrNW_004955467:10,129,005...10,130,612
Ensembl chrNW_004955467:10,129,005...10,130,612
JBrowse link
Opsoclonus-Myoclonus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:1318289 NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome ClinVar NCBI chrNW_004955493:1,937,507...1,956,248
Ensembl chrNW_004955493:1,904,220...1,956,303
JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome ClinVar PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 More... NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494
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 chrNW_004955483:8,078,796...8,079,612 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 chrNW_004955407:39,410,262...39,459,383
Ensembl chrNW_004955407:39,410,262...39,459,383
JBrowse link
G Adarb1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:41,886,286...41,962,846
Ensembl chrNW_004955407:41,886,286...41,962,897
JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chrNW_004955402:1,037,414...1,069,165
Ensembl chrNW_004955402:1,037,402...1,069,165
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 chrNW_004955407:41,365,920...41,434,090
Ensembl chrNW_004955407:41,365,887...41,434,090
JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:41,157,503...41,165,032
Ensembl chrNW_004955407:41,157,484...41,165,014
JBrowse link
G Art3 ADP-ribosyltransferase 3 (inactive) ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chrNW_004955433:743,631...850,612
Ensembl chrNW_004955433:810,703...853,589
JBrowse link
G Atn1 atrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10814707 NCBI chrNW_004955413:4,511,251...4,524,037
Ensembl chrNW_004955413:4,516,532...4,522,831
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 chrNW_004955407:39,627,435...39,665,156
Ensembl chrNW_004955407:39,618,252...39,663,885
JBrowse link
G Cbs cystathionine beta-synthase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:38,924,355...38,939,790
Ensembl chrNW_004955407:38,924,321...38,939,790
JBrowse link
G Ccdc158 coiled-coil domain containing 158 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chrNW_004955433:1,040,193...1,120,585
Ensembl chrNW_004955433:1,042,049...1,116,349
JBrowse link
G Cdkl2 cyclin dependent kinase like 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chrNW_004955474:1,514,566...1,550,120
Ensembl chrNW_004955474:1,513,391...1,550,385
JBrowse link
G Cers1 ceramide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955524:2,788,672...2,798,068
Ensembl chrNW_004955524:2,788,653...2,796,370
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 chrNW_004955407:41,120,820...41,128,089
Ensembl chrNW_004955407:41,121,048...41,126,996
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955416:21,085,570...21,210,321
Ensembl chrNW_004955416:21,085,570...21,210,321
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 chrNW_004955493:6,696,520...6,707,849
Ensembl chrNW_004955493:6,696,241...6,707,849
JBrowse link
G Cln5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:18414213 PMID:24767253 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955404:30,229,632...30,235,677
Ensembl chrNW_004955404:30,229,632...30,235,679
JBrowse link
G Cln6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:25741868 NCBI chrNW_004955450:7,876,572...7,885,305
Ensembl chrNW_004955450:7,876,522...7,886,581
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 chrNW_004955407:42,091,211...42,131,343
Ensembl chrNW_004955407:42,091,211...42,131,343
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 chrNW_004955407:42,461,837...42,479,048
Ensembl chrNW_004955407:42,461,952...42,478,261
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 chrNW_004955407:42,575,677...42,600,967
Ensembl chrNW_004955407:42,575,170...42,600,495
JBrowse link
G Cryaa crystallin alpha A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:38,880,088...38,892,946
Ensembl chrNW_004955407:38,880,086...38,925,642
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chrNW_004955407:41,475,533...41,478,943
Ensembl chrNW_004955407:41,475,533...41,479,150
JBrowse link
G CUNH21orf58 chromosome unknown C21orf58 homolog ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:42,712,152...42,728,690 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 chrNW_004955433:748,392...750,890
Ensembl chrNW_004955433:748,284...750,927
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 chrNW_004955433:769,449...771,137
Ensembl chrNW_004955433:766,272...771,231
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 chrNW_004955433:724,566...731,945
Ensembl chrNW_004955433:724,515...732,192
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: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955528:317,891...366,299
Ensembl chrNW_004955528:317,891...366,293
JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:41,177,582...41,186,965
Ensembl chrNW_004955407:41,177,582...41,186,965
JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO 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
ClinVar PMID:9536098 PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 More... NCBI chrNW_004955436:14,925,452...14,982,357
Ensembl chrNW_004955436:14,926,123...14,983,180
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 chrNW_004955404:30,215,140...30,229,798
Ensembl chrNW_004955404:30,215,108...30,229,798
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:42,608,249...42,617,167
Ensembl chrNW_004955407:42,607,872...42,617,166
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 chrNW_004955474:1,565,048...1,632,427
Ensembl chrNW_004955474:1,562,163...1,632,449
JBrowse link
G Gatd3 glutamine amidotransferase class 1 domain containing 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:41,247,749...41,255,369
Ensembl chrNW_004955407:41,247,687...41,254,884
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19057520 PMID:21549339 More... NCBI chrNW_004955478:10,868,912...10,889,405
Ensembl chrNW_004955478:10,868,912...10,889,405
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 chrNW_004955407:38,577,463...38,671,929
Ensembl chrNW_004955407:38,577,789...38,671,929
JBrowse link
G Icoslg inducible T cell costimulator ligand ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:41,190,875...41,197,521
Ensembl chrNW_004955407:41,189,974...41,198,254
JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:41,779,849...41,805,637
Ensembl chrNW_004955407:41,777,777...41,800,201
JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chrNW_004955414:32,538,968...32,580,370
Ensembl chrNW_004955414:32,538,938...32,580,370
JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar NCBI chrNW_004955456:8,627,763...8,637,882
Ensembl chrNW_004955456:8,627,763...8,636,206
JBrowse link
G Lmnb2 lamin B2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955495:4,826,653...4,851,984
Ensembl chrNW_004955495:4,828,638...4,851,928
JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:41,053,671...41,056,103
Ensembl chrNW_004955407:41,052,184...41,092,196
JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:42,633,658...42,653,399
Ensembl chrNW_004955407:42,633,658...42,653,399
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 chrNW_004955407:42,657,422...42,706,339
Ensembl chrNW_004955407:42,657,588...42,705,315
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:28492532 NCBI chrNW_004955428:13,519,285...13,548,007
Ensembl chrNW_004955428:13,519,277...13,544,695
JBrowse link
G Naaa N-acylethanolamine acid amidase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chrNW_004955433:630,627...674,675
Ensembl chrNW_004955433:630,483...674,675
JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:39,029,943...39,039,425
Ensembl chrNW_004955407:39,026,057...39,039,347
JBrowse link
G Neu1 neuraminidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chrNW_004955437:378,708...383,076
Ensembl chrNW_004955437:378,708...383,085
JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chrNW_004955483:8,078,796...8,079,612 JBrowse link
G Nup54 nucleoporin 54 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chrNW_004955433:853,921...879,861 JBrowse link
G Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chrNW_004955474:1,502,798...1,509,307
Ensembl chrNW_004955474:1,502,791...1,509,294
JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chrNW_004955462:1,098,118...1,150,291
Ensembl chrNW_004955462:1,107,510...1,151,269
JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:42,395,149...42,447,312
Ensembl chrNW_004955407:42,377,972...42,446,722
JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:42,735,078...42,835,851
Ensembl chrNW_004955407:42,735,188...42,835,465
JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:39,090,718...39,165,363
Ensembl chrNW_004955407:39,087,952...39,165,370
JBrowse link
G Pfkl phosphofructokinase, liver type ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:41,131,022...41,145,392
Ensembl chrNW_004955407:41,131,022...41,145,394
JBrowse link
G Pknox1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:38,949,060...38,982,984
Ensembl chrNW_004955407:38,948,200...38,982,984
JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:41,972,833...41,984,095
Ensembl chrNW_004955407:41,972,717...41,984,095
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 chrNW_004955474:1,758,988...1,770,427 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 chrNW_004955452:17,518,345...17,549,112
Ensembl chrNW_004955452:17,529,115...17,549,664
JBrowse link
G Prdm15 PR/SET domain 15 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:39,680,757...39,714,917
Ensembl chrNW_004955407:39,680,770...39,712,104
JBrowse link
G Prdm8 PR/SET domain 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955433:4,443,339...4,463,687
Ensembl chrNW_004955433:4,459,669...4,462,928
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 chrNW_004955500:1,897,899...1,990,791
Ensembl chrNW_004955500:1,897,912...1,990,875
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 chrNW_004955517:1,501,322...1,806,996
Ensembl chrNW_004955517:1,501,706...1,802,169
JBrowse link
G Prnp prion protein (Kanno blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chrNW_004955415:15,442,313...15,454,644
Ensembl chrNW_004955415:15,442,313...15,454,644
JBrowse link
G Pttg1ip PTTG1 interacting protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:41,753,855...41,769,107
Ensembl chrNW_004955407:41,755,162...41,769,010
JBrowse link
G Pwp2 PWP2 small subunit processome component ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:41,256,603...41,269,648
Ensembl chrNW_004955407:41,256,855...41,269,582
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 chrNW_004955407:39,728,645...39,748,752
Ensembl chrNW_004955407:39,728,634...39,748,791
JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:41,456,291...41,466,040
Ensembl chrNW_004955407:41,456,191...41,466,856
JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:38,553,866...38,577,547
Ensembl chrNW_004955407:38,553,814...38,577,465
JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:39,266,888...39,284,972
Ensembl chrNW_004955407:39,266,888...39,284,972
JBrowse link
G Sacs sacsin molecular chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chrNW_004955497:3,701,515...3,752,627
Ensembl chrNW_004955497:3,706,882...3,754,663
JBrowse link
G Scarb2 scavenger receptor class B member 2 ISO 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
ClinVar PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 More... NCBI chrNW_004955433:884,740...962,932
Ensembl chrNW_004955433:884,740...962,932
JBrowse link
G Sdad1 SDA1 domain containing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chrNW_004955433:690,305...717,737
Ensembl chrNW_004955433:689,577...717,737
JBrowse link
G Serpini1 serpin family I member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chrNW_004955448:16,947,375...16,982,114
Ensembl chrNW_004955448:16,947,403...16,984,130
JBrowse link
G Shroom3 shroom family member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chrNW_004955433:1,135,589...1,423,449
Ensembl chrNW_004955433:1,358,444...1,422,498
JBrowse link
G Sik1 salt inducible kinase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:38,739,062...38,749,293
Ensembl chrNW_004955407:38,739,062...38,749,758
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 chrNW_004955407:42,132,216...42,154,252
Ensembl chrNW_004955407:42,132,165...42,141,992
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 chrNW_004955407:39,203,934...39,268,273
Ensembl chrNW_004955407:39,203,942...39,268,273
JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:41,812,808...41,834,661
Ensembl chrNW_004955407:41,812,825...41,833,020
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 chrNW_004955407:42,621,167...42,629,350
Ensembl chrNW_004955407:42,620,679...42,629,350
JBrowse link
G Stbd1 starch binding domain 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chrNW_004955433:1,036,265...1,038,652 JBrowse link
G Sumo3 small ubiquitin like modifier 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:41,725,992...41,732,692
Ensembl chrNW_004955407:41,727,181...41,732,692
JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224
JBrowse link
G Tff1 trefoil factor 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:39,363,693...39,365,724 JBrowse link
G Tff2 trefoil factor 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:39,379,669...39,382,367
Ensembl chrNW_004955407:39,379,526...39,382,420
JBrowse link
G Tff3 trefoil factor 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:39,398,534...39,401,085
Ensembl chrNW_004955407:39,398,074...39,401,248
JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:39,332,517...39,351,699
Ensembl chrNW_004955407:39,332,052...39,354,488
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 chrNW_004955414:22,324,847...22,330,912
Ensembl chrNW_004955414:22,324,856...22,330,912
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 chrNW_004955407:41,271,526...41,347,850
Ensembl chrNW_004955407:41,271,526...41,347,850
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 chrNW_004955407:41,062,217...41,110,500
Ensembl chrNW_004955407:41,057,941...41,110,668
JBrowse link
G Tsc1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17484760 NCBI chrNW_004955513:2,197,037...2,244,992
Ensembl chrNW_004955513:2,197,037...2,244,992
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 chrNW_004955407:41,513,538...41,566,931
Ensembl chrNW_004955407:41,513,829...41,656,564
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 chrNW_004955407:38,895,741...38,909,820
Ensembl chrNW_004955407:38,895,711...38,909,820
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 chrNW_004955407:39,290,025...39,325,810
Ensembl chrNW_004955407:39,290,827...39,326,004
JBrowse link
G Ube2g2 ubiquitin conjugating enzyme E2 G2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:41,683,771...41,724,014
Ensembl chrNW_004955407:41,683,720...41,724,014
JBrowse link
G Umodl1 uromodulin like 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:39,508,526...39,555,604
Ensembl chrNW_004955407:39,508,471...39,548,147
JBrowse link
G Uso1 USO1 vesicle transport factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chrNW_004955474:1,647,670...1,704,869
Ensembl chrNW_004955474:1,647,361...1,705,548
JBrowse link
G Wdr4 WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:39,044,328...39,066,277
Ensembl chrNW_004955407:39,044,328...39,066,277
JBrowse link
G Wnt9b Wnt family member 9B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:21549339 PMID:28492532 NCBI chrNW_004955478:10,816,405...10,841,416
Ensembl chrNW_004955478:10,816,405...10,841,416
JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chrNW_004955407:42,706,407...42,710,962
Ensembl chrNW_004955407:42,706,439...42,710,962
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 chrNW_004955407:39,583,998...39,599,381
Ensembl chrNW_004955407:39,584,146...39,599,381
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 chrNW_004955433:4,212,729...4,345,611
Ensembl chrNW_004955433:4,212,729...4,345,066
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 chrNW_004955433:4,443,339...4,463,687
Ensembl chrNW_004955433:4,459,669...4,462,928
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 chrNW_004955495:4,387,147...4,399,430
Ensembl chrNW_004955495:4,388,516...4,399,313
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 chrNW_004955484:8,299,427...8,352,465
Ensembl chrNW_004955484:8,299,427...8,340,287
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 chrNW_004955484:8,340,059...8,348,776
Ensembl chrNW_004955484:8,340,076...8,347,472
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 chrNW_004955407:41,475,533...41,478,943
Ensembl chrNW_004955407:41,475,533...41,479,150
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 ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B | ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18976727 PMID:20301774 More... NCBI chrNW_004955500:1,897,899...1,990,791
Ensembl chrNW_004955500:1,897,912...1,990,875
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 chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224
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 chrNW_004955493:6,696,520...6,707,849
Ensembl chrNW_004955493:6,696,241...6,707,849
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: 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 chrNW_004955456:8,627,763...8,637,882
Ensembl chrNW_004955456:8,627,763...8,636,206
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 chrNW_004955430:11,298,850...11,654,835
Ensembl chrNW_004955430:11,298,850...11,654,835
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 chrNW_004955528:531,680...578,003
Ensembl chrNW_004955528:532,385...572,398
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 chrNW_004955433:884,740...962,932
Ensembl chrNW_004955433:884,740...962,932
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 PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480
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 chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227
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: Progressive myoclonic epilepsy type 5 ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 ClinVar PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 More... NCBI chrNW_004955517:1,501,322...1,806,996
Ensembl chrNW_004955517:1,501,706...1,802,169
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 chrNW_004955485:9,193,838...9,198,697
Ensembl chrNW_004955485:9,191,919...9,198,697
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 chrNW_004955478:10,868,912...10,889,405
Ensembl chrNW_004955478:10,868,912...10,889,405
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 chrNW_004955468:12,961,873...12,971,278
Ensembl chrNW_004955468:12,961,915...12,971,095
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 chrNW_004955476:155,913...176,122
Ensembl chrNW_004955476:154,917...176,616
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 chrNW_004955414:33,028,701...33,063,233
Ensembl chrNW_004955414:33,028,701...33,063,233
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 chrNW_004955414:32,992,669...33,028,620
Ensembl chrNW_004955414:32,992,669...33,028,442
JBrowse link
G Igsf22 immunoglobulin superfamily member 22 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chrNW_004955414:33,364,637...33,378,363 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 chrNW_004955414:32,538,968...32,580,370
Ensembl chrNW_004955414:32,538,938...32,580,370
JBrowse link
G Ldha lactate dehydrogenase A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chrNW_004955414:33,087,745...33,100,846 JBrowse link
G LOC102020557 L-lactate dehydrogenase C chain ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chrNW_004955414:33,109,535...33,138,756
Ensembl chrNW_004955414:33,110,120...33,138,756
JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chrNW_004955414:32,523,959...32,526,575
Ensembl chrNW_004955414:32,523,924...32,526,674
JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chrNW_004955414:32,353,896...32,435,097
Ensembl chrNW_004955414:32,357,054...32,433,849
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 chrNW_004955414:33,381,783...33,436,974
Ensembl chrNW_004955414:33,377,322...33,437,118
JBrowse link
G Saal1 serum amyloid A like 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chrNW_004955414:32,853,291...32,868,061
Ensembl chrNW_004955414:32,852,959...32,868,068
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 chrNW_004955414:32,579,419...32,796,714
Ensembl chrNW_004955414:32,584,839...32,796,725
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 chrNW_004955414:33,255,048...33,272,861
Ensembl chrNW_004955414:33,256,850...33,272,556
JBrowse link
G Tmem86a transmembrane protein 86A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chrNW_004955414:33,357,432...33,361,478
Ensembl chrNW_004955414:33,357,383...33,361,478
JBrowse link
G Tph1 tryptophan hydroxylase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chrNW_004955414:32,803,417...32,828,682
Ensembl chrNW_004955414:32,800,477...32,828,501
JBrowse link
G Tsg101 tumor susceptibility 101 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chrNW_004955414:33,154,812...33,193,769
Ensembl chrNW_004955414:33,154,812...33,193,769
JBrowse link
G Uevld UEV and lactate/malate dehyrogenase domains ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chrNW_004955414:33,197,202...33,238,473
Ensembl chrNW_004955414:33,197,202...33,238,473
JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chrNW_004955414:32,303,045...32,351,401
Ensembl chrNW_004955414:32,298,759...32,351,505
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 chrNW_004955476:105,347...152,415
Ensembl chrNW_004955476:105,347...154,615
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 chrNW_004955524:2,695,720...2,709,163
Ensembl chrNW_004955524:2,692,758...2,709,262
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 chrNW_004955524:2,641,907...2,646,275
Ensembl chrNW_004955524:2,641,907...2,646,275
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 chrNW_004955524:2,788,672...2,798,068
Ensembl chrNW_004955524:2,788,653...2,796,370
JBrowse link
G Cope COPI coat complex subunit epsilon ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chrNW_004955524:2,767,996...2,779,671
Ensembl chrNW_004955524:2,767,997...2,779,671
JBrowse link
G Ddx49 DEAD-box helicase 49 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chrNW_004955524:2,760,692...2,767,709
Ensembl chrNW_004955524:2,760,860...2,767,665
JBrowse link
G Homer3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chrNW_004955524:2,754,970...2,760,198
Ensembl chrNW_004955524:2,755,367...2,760,198
JBrowse link
G Mef2b myocyte enhancer factor 2B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chrNW_004955524:2,649,413...2,664,173
Ensembl chrNW_004955524:2,661,278...2,664,084
JBrowse link
G Nr2c2ap nuclear receptor 2C2 associated protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chrNW_004955524:2,634,302...2,635,982
Ensembl chrNW_004955524:2,618,957...2,635,982
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 chrNW_004955524:2,635,358...2,642,206
Ensembl chrNW_004955524:2,635,358...2,641,765
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 chrNW_004955524:2,674,508...2,683,304
Ensembl chrNW_004955524:2,675,747...2,683,282
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 chrNW_004955524:2,710,656...2,731,849
Ensembl chrNW_004955524:2,710,656...2,732,203
JBrowse link
G Tmem161a transmembrane protein 161A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chrNW_004955524:2,667,089...2,674,550
Ensembl chrNW_004955524:2,666,885...2,674,215
JBrowse link
G Upf1 UPF1 RNA helicase and ATPase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chrNW_004955524:2,798,336...2,814,063
Ensembl chrNW_004955524:2,798,336...2,913,176
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 chrNW_004955495:6,159,314...6,167,429
Ensembl chrNW_004955495:6,159,314...6,168,123
JBrowse link
G Adamtsl5 ADAMTS like 5 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955764:4,813...12,653
Ensembl chrNW_004955764:5,177...12,653
JBrowse link
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:5,893,375...5,896,152
Ensembl chrNW_004955495:5,893,446...5,895,912
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 chrNW_004955495:5,972,177...6,012,525
Ensembl chrNW_004955495:5,972,433...6,012,433
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 chrNW_004955495:6,466,434...6,489,612
Ensembl chrNW_004955495:6,467,357...6,489,633
JBrowse link
G Atp8b3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:6,222,764...6,242,104
Ensembl chrNW_004955495:6,222,602...6,242,569
JBrowse link
G Btbd2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:6,072,112...6,085,180
Ensembl chrNW_004955495:6,072,112...6,084,298
JBrowse link
G Csnk1g2 casein kinase 1 gamma 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:6,087,159...6,103,413
Ensembl chrNW_004955495:6,087,159...6,103,412
JBrowse link
G CUNH19orf25 chromosome unknown C19orf25 homolog ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:6,461,082...6,464,720
Ensembl chrNW_004955495:6,461,082...6,464,720
JBrowse link
G Diras1 DIRAS family GTPase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:5,002,803...5,005,203
Ensembl chrNW_004955495:5,004,548...5,005,144
JBrowse link
G Dot1l DOT1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:5,907,486...5,958,241
Ensembl chrNW_004955495:5,909,880...5,959,027
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 chrNW_004955495:4,864,932...4,866,728
Ensembl chrNW_004955495:4,864,868...4,867,658
JBrowse link
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:5,286,891...5,302,631
Ensembl chrNW_004955495:5,285,380...5,302,631
JBrowse link
G Gng7 G protein subunit gamma 7 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:4,889,198...4,995,288
Ensembl chrNW_004955495:4,889,198...4,893,353
JBrowse link
G Izumo4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:6,014,852...6,018,342
Ensembl chrNW_004955495:6,015,038...6,018,162
JBrowse link
G Klf16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:6,178,565...6,189,469 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 chrNW_004955495:5,850,956...5,862,249
Ensembl chrNW_004955495:5,860,126...5,861,939
JBrowse link
G Lmnb2 lamin B2 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 chrNW_004955495:4,826,653...4,851,984
Ensembl chrNW_004955495:4,828,638...4,851,928
JBrowse link
G LOC102028311 cytochrome b-c1 complex subunit 10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:6,368,827...6,372,938
Ensembl chrNW_004955495:6,368,827...6,372,938
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 chrNW_004955495:5,829,976...5,836,785
Ensembl chrNW_004955495:5,829,247...5,836,900
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 chrNW_004955495:6,385,449...6,388,911
Ensembl chrNW_004955495:6,336,367...6,389,056
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 chrNW_004955495:6,394,784...6,401,963 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 chrNW_004955495:6,048,346...6,061,579
Ensembl chrNW_004955495:6,048,128...6,062,913
JBrowse link
G Mob3a MOB kinase activator 3A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:6,018,368...6,033,399
Ensembl chrNW_004955495:6,018,368...6,035,489
JBrowse link
G Oaz1 ornithine decarboxylase antizyme 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:5,871,418...5,874,200
Ensembl chrNW_004955495:5,871,418...5,874,200
JBrowse link
G Onecut3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:6,246,855...6,267,989 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 chrNW_004955495:6,424,426...6,460,252
Ensembl chrNW_004955495:6,453,991...6,459,744
JBrowse link
G Peak3 PEAK family member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:5,866,204...5,869,808 JBrowse link
G Plekhj1 pleckstrin homology domain containing J1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:5,904,410...5,907,211
Ensembl chrNW_004955495:5,904,410...5,907,211
JBrowse link
G Plk5 polo like kinase 5 (inactive) ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:6,415,172...6,424,445 JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955764:17,640...22,996
Ensembl chrNW_004955764:3,793...23,152
JBrowse link
G Rexo1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:6,194,380...6,219,907
Ensembl chrNW_004955495:6,194,521...6,220,031
JBrowse link
G Sf3a2 splicing factor 3a subunit 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:5,896,648...5,904,287
Ensembl chrNW_004955495:5,896,648...5,904,056
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 chrNW_004955495:5,025,038...5,051,810
Ensembl chrNW_004955495:5,031,229...5,052,389
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 chrNW_004955899:808...9,721
Ensembl chrNW_004955899:590...9,721
JBrowse link
G Sppl2b signal peptide peptidase like 2B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:5,816,979...5,829,938
Ensembl chrNW_004955495:5,818,337...5,829,889
JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:6,337,311...6,365,193
Ensembl chrNW_004955495:6,337,870...6,367,487
JBrowse link
G Thop1 thimet oligopeptidase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:5,055,389...5,070,710
Ensembl chrNW_004955495:5,054,986...5,071,279
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 chrNW_004955495:5,781,024...5,782,300 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 chrNW_004955495:5,347,496...5,366,743
Ensembl chrNW_004955495:5,347,496...5,368,385
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 chrNW_004955495:5,328,299...5,336,195
Ensembl chrNW_004955495:5,327,595...5,336,715
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 chrNW_004955495:5,367,237...5,369,601 JBrowse link
G Tmprss9 transmembrane serine protease 9 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chrNW_004955495:5,782,817...5,800,988
Ensembl chrNW_004955495:5,782,929...5,800,980
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 chrNW_004955552:1,623,263...1,660,285
Ensembl chrNW_004955552:1,623,738...1,659,086
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 ClinVar Annotator: match by term: Unverricht-Lundborg syndrome OMIM
ClinVar
PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chrNW_004955407:41,475,533...41,478,943
Ensembl chrNW_004955407:41,475,533...41,479,150
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    Pathological Conditions, Signs and Symptoms 11318
      Signs and Symptoms 9516
        Neurologic Manifestations 9211
          Dyskinesias 2042
            Myoclonus 389
              Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 0
              Familial Convulsive Disorder with Prenatal or Early Onset 0
              Familial Myoclonus 1 1
              Familial Myoclonus 2 1
              Feigenbaum Bergeron Richardson Syndrome 0
              Herrmann Syndrome 0
              Myoclonic Epilepsies + 383
              Myoclonic Nystagmus 0
              Myoclonus, Cerebellar Ataxia, and Deafness 0
              Neonatal Intractable Myoclonus 1
              Opsoclonus-Myoclonus Syndrome + 3
              Progressive External Ophthalmoplegia with Myoclonus 0
Path 2
Term Annotations click to browse term
  disease 14337
    disease of anatomical entity 14030
      nervous system disease 12349
        central nervous system disease 11072
          brain disease 10390
            movement disease 2391
              Dyskinesias 2042
                Myoclonus 389
                  Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 0
                  Familial Convulsive Disorder with Prenatal or Early Onset 0
                  Familial Myoclonus 1 1
                  Familial Myoclonus 2 1
                  Feigenbaum Bergeron Richardson Syndrome 0
                  Herrmann Syndrome 0
                  Myoclonic Epilepsies + 383
                  Myoclonic Nystagmus 0
                  Myoclonus, Cerebellar Ataxia, and Deafness 0
                  Neonatal Intractable Myoclonus 1
                  Opsoclonus-Myoclonus Syndrome + 3
                  Progressive External Ophthalmoplegia with Myoclonus 0
paths to the root