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 chr  X:128,445,028...128,519,892
Ensembl chr  X:128,453,577...128,455,785
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Myoclonus ClinVar NCBI chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Myoclonus ClinVar PMID:25741868 PMID:28492532 NCBI chr11:47,770,513...47,983,843
Ensembl chr11:47,838,358...47,978,399
JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Myoclonus ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:2,353,543...2,378,950 JBrowse link
G TNXB tenascin XB ISO ClinVar Annotator: match by term: Myoclonus ClinVar PMID:25741868 NCBI chr17:39,919,839...39,988,087
Ensembl chr17:39,919,772...39,986,868
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 chr11:6,959,568...6,973,341
Ensembl chr11:6,964,784...6,972,801
JBrowse link
developmental and epileptic encephalopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIDD1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 ClinVar PMID:25741868 NCBI chr 1:602,594...609,388
Ensembl chr 1:602,721...607,893
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 chr 1:593,914...601,603
Ensembl chr 1:593,890...598,585
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 chr28:18,945,857...18,964,077
Ensembl chr28:18,946,072...18,961,182
JBrowse link
G CGN cingulin ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr20:12,155,782...12,183,849 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 chr23:64,422,519...64,512,124
Ensembl chr23:64,422,391...64,513,652
JBrowse link
G LYSMD1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr20:12,523,798...12,541,970
Ensembl chr20:12,524,487...12,529,496
JBrowse link
G PI4KB phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr20:12,358,758...12,395,372
Ensembl chr20:12,358,762...12,394,661
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 chr20:12,439,726...12,490,331 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 chr20:12,236,036...12,290,937
Ensembl chr20:12,236,145...12,290,956
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 chr20:12,291,727...12,294,120
Ensembl chr20:12,291,070...12,294,311
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 chr20:12,424,557...12,434,929 JBrowse link
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr20:12,345,078...12,351,699
Ensembl chr20:12,345,063...12,352,646
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 chr10:51,490,204...51,653,916 JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 6:29,962,993...29,972,845
Ensembl chr 6:29,962,843...29,973,325
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar NCBI chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145
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 chr10:51,711,446...51,898,856
Ensembl chr10:51,714,931...51,829,621
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 chr20:12,321,445...12,330,495
Ensembl chr20:12,321,292...12,330,746
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 chr20:11,997,768...12,083,929
Ensembl chr20:11,998,527...12,083,528
JBrowse link
G TMOD4 tropomodulin 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr20:12,513,935...12,519,497
Ensembl chr20:12,515,429...12,519,402
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 chr20:12,530,625...12,534,278
Ensembl chr20:12,531,052...12,533,694
JBrowse link
G TUFT1 tuftelin 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr20:12,110,090...12,154,183
Ensembl chr20:12,109,717...12,154,201
JBrowse link
G VPS72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr20:12,498,627...12,513,838
Ensembl chr20:12,498,644...12,514,343
JBrowse link
G ZNF687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr20:12,395,592...12,405,898 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 chr 5:2,302,249...2,336,188
Ensembl chr 5:2,302,341...2,335,270
JBrowse link
G EGR2 early growth response 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr 9:68,472,640...68,479,612
Ensembl chr 9:68,475,102...68,479,595
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 chr 9:67,913,062...68,135,555 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 chr21:89,091,939...89,575,464 JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976
JBrowse link
G LOC103233654 GTP-binding protein Di-Ras1 ISO Epilepsy, generalized myoclonic, with photosensitivity OMIA PMID:28223533 PMID:29194766 PMID:38003185 NCBI chr 6:2,491,978...2,494,791
Ensembl chr 6:2,493,475...2,494,071
JBrowse link
G LOC103238261 tubulin alpha-1A chain ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:30744660 PMID:31833200 NCBI chr11:45,419,046...45,423,574
Ensembl chr11:45,418,748...45,423,685
JBrowse link
G NRBF2 nuclear receptor binding factor 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr 9:68,150,245...68,173,388
Ensembl chr 9:68,151,057...68,159,455
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:25326637 PMID:28492532 NCBI chr15:87,679,656...87,778,767
Ensembl chr15:87,679,077...87,779,102
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 More... NCBI chr10:51,490,204...51,653,916 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 chr10:51,711,446...51,898,856
Ensembl chr10:51,714,931...51,829,621
JBrowse link
G SLC25A22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar PMID:15592994 PMID:18414213 PMID:19780765 PMID:25033742 PMID:25741868 More... NCBI chr 1:593,914...601,603
Ensembl chr 1:593,890...598,585
JBrowse link
G SNX27 sorting nexin 27 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar PMID:25741868 PMID:28492532 NCBI chr20:11,997,768...12,083,929
Ensembl chr20:11,998,527...12,083,528
JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:18414213 PMID:22277662 PMID:23526554 PMID:24033266 PMID:24291220 More... NCBI chr 5:2,353,543...2,378,950 JBrowse link
G TSPAN12 tetraspanin 12 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr21:89,609,229...89,680,446
Ensembl chr21:89,609,124...89,680,297
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 chr 8:112,834,159...113,246,812
Ensembl chr 8:112,877,688...113,246,824
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 chr14:558,876...562,959
Ensembl chr14:561,057...562,400
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 chr14:613,118...636,542
Ensembl chr14:611,299...636,499
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 chr 4:9,891,847...9,970,617
Ensembl chr 4:9,891,580...9,970,300
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 chr15:5,607,788...5,716,245
Ensembl chr15:5,608,775...5,700,620
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 chr25:26,445,993...26,462,346
Ensembl chr25:26,453,242...26,462,549
JBrowse link
G ADORA1 adenosine A1 receptor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:26,180,898...26,221,424
Ensembl chr25:26,182,446...26,220,776
JBrowse link
G ARL8A ARF like GTPase 8A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:27,261,506...27,272,477
Ensembl chr25:27,261,562...27,271,416
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 chr25:28,274,562...28,287,783
Ensembl chr25:28,286,370...28,286,987
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 chr25:25,602,857...25,716,385
Ensembl chr25:25,602,715...25,661,553
JBrowse link
G AVPR1B arginine vasopressin receptor 1B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:23,234,651...23,244,403
Ensembl chr25:23,234,823...23,241,159
JBrowse link
G BTG2 BTG anti-proliferation factor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:26,032,404...26,036,500
Ensembl chr25:26,034,632...26,036,538
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 chr25:28,288,483...28,363,231
Ensembl chr25:28,289,342...28,363,327
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 chr25:28,542,480...28,659,197
Ensembl chr25:28,542,143...28,659,060
JBrowse link
G CDK18 cyclin dependent kinase 18 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:23,809,633...23,838,350
Ensembl chr25:23,809,352...23,838,345
JBrowse link
G CHI3L1 chitinase 3 like 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:26,160,993...26,169,005
Ensembl chr25:26,160,961...26,169,566
JBrowse link
G CHIT1 chitinase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:26,120,089...26,133,093 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 chr25:24,262,092...24,296,740
Ensembl chr25:24,261,651...24,296,850
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 chr25:27,908,426...27,932,107
Ensembl chr25:27,908,554...27,933,275
JBrowse link
G CTSE cathepsin E ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:23,318,421...23,333,885
Ensembl chr25:23,319,248...23,332,980
JBrowse link
G CYB5R1 cytochrome b5 reductase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:26,437,439...26,442,851
Ensembl chr25:26,437,334...26,444,110
JBrowse link
G DDX59 DEAD-box helicase 59 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:28,730,217...28,755,879
Ensembl chr25:28,730,718...28,756,034
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 chr25:24,128,889...24,200,115
Ensembl chr25:24,128,899...24,195,085
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 chr25:22,718,056...22,728,143
Ensembl chr25:22,718,284...22,728,074
JBrowse link
G EIF2D eukaryotic translation initiation factor 2D ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:22,752,852...22,773,566
Ensembl chr25:22,752,926...22,773,568
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 chr25:27,390,707...27,398,312
Ensembl chr25:27,390,809...27,397,441
JBrowse link
G ELK4 ETS transcription factor ELK4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:23,714,591...23,731,330
Ensembl chr25:23,714,708...23,729,925
JBrowse link
G ETNK2 ethanolamine kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:25,196,260...25,217,122
Ensembl chr25:25,196,324...25,217,916
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 chr25:23,147,233...23,185,148 JBrowse link
G FMOD fibromodulin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:25,992,006...26,002,909
Ensembl chr25:25,992,228...26,003,109
JBrowse link
G GOLT1A golgi transport 1A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:25,134,810...25,151,403
Ensembl chr25:25,135,616...25,151,395
JBrowse link
G GPR25 G protein-coupled receptor 25 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:28,529,682...28,533,545
Ensembl chr25:28,530,364...28,531,449
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 chr25:27,276,393...27,283,231
Ensembl chr25:27,277,360...27,283,350
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 chr25:28,173,011...28,207,977 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 chr25:22,865,720...22,892,346
Ensembl chr25:22,865,734...22,891,920
JBrowse link
G IL10 interleukin 10 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
JBrowse link
G INAVA innate immunity activator ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:28,488,990...28,513,997
Ensembl chr25:28,488,901...28,509,704
JBrowse link
G IPO9 importin 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:27,533,114...27,585,273
Ensembl chr25:27,534,042...27,585,336
JBrowse link
G KDM5B lysine demethylase 5B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:26,599,740...26,685,256
Ensembl chr25:26,600,736...26,683,632
JBrowse link
G KIF14 kinesin family member 14 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:28,789,952...28,856,713
Ensembl chr25:28,789,614...28,856,570
JBrowse link
G KIF21B kinesin family member 21B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:28,379,019...28,434,172
Ensembl chr25:28,379,014...28,434,170
JBrowse link
G KISS1 KiSS-1 metastasis suppressor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:25,151,642...25,159,723 JBrowse link
G KLHDC8A kelch domain containing 8A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:23,982,566...24,002,959
Ensembl chr25:23,982,370...24,004,802
JBrowse link
G KLHL12 kelch like family member 12 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:26,479,798...26,516,293 JBrowse link
G LAD1 ladinin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:28,013,713...28,032,481
Ensembl chr25:28,013,826...28,031,076
JBrowse link
G LAX1 lymphocyte transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:25,569,543...25,583,523
Ensembl chr25:25,567,555...25,581,798
JBrowse link
G LEMD1 LEM domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:23,886,528...23,957,716
Ensembl chr25:23,894,573...23,957,434
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 chr25:27,093,242...27,218,694
Ensembl chr25:27,092,717...27,215,943
JBrowse link
G LMOD1 leiomodin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:27,460,230...27,511,667
Ensembl chr25:27,460,460...27,511,024
JBrowse link
G LRRN2 leucine rich repeat neuronal 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:24,660,036...24,727,653
Ensembl chr25:24,724,833...24,726,974
JBrowse link
G MAPKAPK2 MAPK activated protein kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:22,632,180...22,681,250
Ensembl chr25:22,629,729...22,681,373
JBrowse link
G MDM4 MDM4 regulator of p53 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:24,797,238...24,843,034
Ensembl chr25:24,797,278...24,833,485
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 chr25:23,740,916...23,774,514
Ensembl chr25:23,743,360...23,774,451
JBrowse link
G MYBPH myosin binding protein H ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:26,172,236...26,180,502
Ensembl chr25:26,172,495...26,179,656
JBrowse link
G MYOG myogenin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:26,264,872...26,269,652
Ensembl chr25:26,266,717...26,268,867
JBrowse link
G NAV1 neuron navigator 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:27,593,875...27,872,515
Ensembl chr25:27,594,709...27,761,637
JBrowse link
G NFASC neurofascin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:24,315,877...24,516,524
Ensembl chr25:24,321,574...24,474,635
JBrowse link
G NUAK2 NUAK family kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:24,016,909...24,036,640
Ensembl chr25:24,016,930...24,036,641
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 chr25:23,597,210...23,634,262
Ensembl chr25:23,597,464...23,629,169
JBrowse link
G OPTC opticin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:25,835,809...25,840,282
Ensembl chr25:25,835,906...25,839,749
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 chr25:27,945,013...27,948,870
Ensembl chr25:27,945,608...27,945,991
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 chr25:24,855,712...24,926,050
Ensembl chr25:24,855,766...24,926,346
JBrowse link
G PKP1 plakophilin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:28,083,358...28,129,356
Ensembl chr25:28,081,983...28,128,173
JBrowse link
G PLEKHA6 pleckstrin homology domain containing A6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:24,973,035...25,130,439
Ensembl chr25:25,000,340...25,130,573
JBrowse link
G PM20D1 peptidase M20 domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:23,498,460...23,521,233
Ensembl chr25:23,498,845...23,520,637
JBrowse link
G PPFIA4 PTPRF interacting protein alpha 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:26,274,388...26,327,507
Ensembl chr25:26,276,014...26,305,025
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 chr25:26,832,411...27,063,528
Ensembl chr25:26,833,355...27,062,870
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 chr25:24,935,435...24,945,220 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 chr25:25,854,443...25,867,179
Ensembl chr25:25,851,674...25,867,177
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 chr25:27,243,907...27,258,088 JBrowse link
G RAB29 RAB29, member RAS oncogene family ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:23,572,001...23,579,881
Ensembl chr25:23,572,542...23,577,695
JBrowse link
G RABIF RAB interacting factor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:26,516,394...26,526,483
Ensembl chr25:26,518,124...26,526,329
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 chr25:22,775,917...22,854,739
Ensembl chr25:22,774,661...22,807,353
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 chr25:24,217,090...24,253,532
Ensembl chr25:24,217,125...24,256,420
JBrowse link
G REN renin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:25,159,816...25,193,620
Ensembl chr25:25,183,037...25,193,420
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 chr25:23,248,283...23,266,664
Ensembl chr25:23,248,404...23,266,420
JBrowse link
G RNPEP arginyl aminopeptidase ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:27,401,749...27,426,371
Ensembl chr25:27,401,757...27,426,410
JBrowse link
G SHISA4 shisa family member 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:27,517,915...27,521,536
Ensembl chr25:27,518,369...27,521,219
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 chr25:23,406,997...23,432,003
Ensembl chr25:23,408,157...23,429,198
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 chr25:23,536,187...23,560,182
Ensembl chr25:23,535,263...23,560,174
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 chr25:23,666,388...23,689,816
Ensembl chr25:23,682,834...23,689,928
JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:25,474,620...25,483,427 JBrowse link
G SOX13 SRY-box transcription factor 13 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:25,220,341...25,275,981
Ensembl chr25:25,221,945...25,235,449
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 chr25:22,897,699...23,147,097
Ensembl chr25:22,897,469...23,145,218
JBrowse link
G SYT2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:26,702,627...26,821,108
Ensembl chr25:26,808,007...26,817,314
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 chr25:27,436,066...27,450,512 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 chr25:24,066,163...24,110,847
Ensembl chr25:24,065,269...24,110,589
JBrowse link
G TMEM183A transmembrane protein 183A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:26,329,213...26,346,850
Ensembl chr25:26,328,841...26,346,750
JBrowse link
G TMEM81 transmembrane protein 81 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:24,255,997...24,258,150
Ensembl chr25:24,256,951...24,257,718
JBrowse link
G TMEM9 transmembrane protein 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:28,230,915...28,266,835
Ensembl chr25:28,246,845...28,267,421
JBrowse link
G TNNI1 troponin I1, slow skeletal type ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:27,989,743...28,009,234
Ensembl chr25:27,997,709...28,002,646
JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:28,035,563...28,054,322
Ensembl chr25:28,040,087...28,054,120
JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr25:27,069,971...27,084,360
Ensembl chr25:27,070,240...27,081,749
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 chr25:25,541,014...25,547,258
Ensembl chr25:25,543,414...25,546,344
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 chr25:25,490,837...25,548,262
Ensembl chr25:25,489,127...25,541,281
JBrowse link
familial adult myoclonic epilepsy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNRC6A trinucleotide repeat containing adaptor 6A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 5:22,341,159...22,553,822
Ensembl chr 5:22,453,931...22,553,843
JBrowse link
familial adult myoclonic epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAPGEF2 Rap guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7 OMIM
ClinVar
PMID:25741868 NCBI chr 7:105,672,583...105,883,544
Ensembl chr 7:105,624,608...105,884,366
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 chr15:21,697,366...21,748,760
Ensembl chr15:21,706,675...21,749,470
JBrowse link
G SERPINB7 serpin family B member 7 ISO RGD PMID:16782060 RGD:7207386 NCBI chr18:15,992,154...16,020,001
Ensembl chr18:15,992,186...16,044,650
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 chr15:21,610,545...21,696,611
Ensembl chr15:21,610,791...21,645,701
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 chr 5:60,281,492...60,286,865 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 chr11:47,770,513...47,983,843
Ensembl chr11:47,838,358...47,978,399
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 chr15:5,057,687...5,073,596
Ensembl chr15:5,057,900...5,073,184
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 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 ClinVar
OMIM
PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 More... NCBI chr23:64,199,372...64,255,996
Ensembl chr23:64,200,752...64,255,996
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 chr26:50,554,143...50,686,847
Ensembl chr26:50,551,829...50,686,803
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 chr17:20,011,684...20,083,639
Ensembl chr17:20,011,530...20,083,592
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 chr10:50,563,560...50,679,179
Ensembl chr10:50,563,568...50,637,179
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 chr 4:163,726...190,145 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 chr17:39,113,519...39,126,267 JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr16:42,710,640...42,776,736
Ensembl chr16:42,708,638...42,768,843
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 chr10:37,240,749...37,518,174
Ensembl chr10:37,246,991...37,388,059
JBrowse link
G CAPRIN1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:25741868 PMID:35979925 NCBI chr 1:31,173,846...31,224,118
Ensembl chr 1:31,172,785...31,223,370
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 chr10:60,279,837...60,298,931 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 chr17:20,011,684...20,083,639
Ensembl chr17:20,011,530...20,083,592
JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr23:64,199,372...64,255,996
Ensembl chr23:64,200,752...64,255,996
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 chr12:106,831,807...106,885,543
Ensembl chr12:106,832,034...106,886,385
JBrowse link
G JRK Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 8:136,896,858...136,916,951
Ensembl chr 8:136,911,217...136,912,923
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 chr17:19,509,955...19,572,011
Ensembl chr17:19,510,106...19,572,002
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 chr13:26,152,974...26,266,676
Ensembl chr13:26,153,319...26,264,568
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 chr17:54,017,947...54,020,015
Ensembl chr17:54,018,703...54,019,887
JBrowse link
G TPMT thiopurine S-methyltransferase ISO ClinVar Annotator: match by term: Lafora disease ClinVar PMID:15781812 PMID:17389303 PMID:23317923 PMID:28492532 NCBI chr17:53,987,561...54,012,647
Ensembl chr17:53,987,559...54,014,650
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 chr14:15,789,710...15,801,938
Ensembl chr14:15,789,013...15,796,611
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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 chr19:22,920,971...22,940,468 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 chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220
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 chr22:46,157,063...46,169,833
Ensembl chr22:46,156,652...46,170,546
JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar NCBI chr29:11,436,170...11,579,468
Ensembl chr29:11,450,799...11,579,594
JBrowse link
G CHRNA2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: myoclonic epilepsy ClinVar PMID:28492532 NCBI chr 8:25,571,958...25,591,982
Ensembl chr 8:25,571,863...25,591,788
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 chr 2:87,551,341...87,555,145 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 chr13:26,152,974...26,266,676
Ensembl chr13:26,153,319...26,264,568
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 chr22:46,072,797...46,141,107
Ensembl chr22:46,072,761...46,140,713
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:46,144,575...46,150,638
Ensembl chr22:46,144,859...46,145,392
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 chr22:46,326,458...46,332,906
Ensembl chr22:46,325,913...46,330,962
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 chr16:60,630,505...60,664,596
Ensembl chr16:60,630,509...60,646,133
JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Myoclonic absence seizure ClinVar PMID:25741868 PMID:28492532 NCBI chr25:81,879,532...81,890,684
Ensembl chr25:81,878,111...81,890,701
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 chr22:46,204,600...46,279,863
Ensembl chr22:46,204,893...46,278,260
JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Myoclonic absence seizure ClinVar PMID:25741868 PMID:26477325 PMID:28492532 PMID:28806457 PMID:29264397 More... NCBI chr 2:14,510,176...14,623,054
Ensembl chr 2:14,510,464...14,619,023
JBrowse link
G LMNB2 lamin B2 ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:28492532 NCBI chr 6:2,207,096...2,234,258
Ensembl chr 6:2,209,989...2,234,215
JBrowse link
G LOC103243271 leucine-rich repeat-containing protein 37A3 ISO ClinVar Annotator: match by term: Myoclonus epilepsy ClinVar PMID:16199547 PMID:21549339 PMID:25326637 PMID:25741868 PMID:28492532 More... NCBI chr16:59,592,891...59,634,813 JBrowse link
G PMP22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17275665 NCBI chr16:14,527,892...14,563,223
Ensembl chr16:14,527,672...14,563,171
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:6088243 NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447
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 chr22:25,128,160...25,481,385
Ensembl chr22:25,133,352...25,303,131
JBrowse link
G PRMT7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:25741868 PMID:33085104 NCBI chr 5:59,058,827...59,106,177
Ensembl chr 5:59,058,846...59,106,106
JBrowse link
G RAPGEF2 Rap guanine nucleotide exchange factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chr 7:105,672,583...105,883,544
Ensembl chr 7:105,624,608...105,884,366
JBrowse link
G SAMD12 sterile alpha motif domain containing 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chr 8:112,834,159...113,246,812
Ensembl chr 8:112,877,688...113,246,824
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 chr 7:24,658,734...24,714,631
Ensembl chr 7:24,658,211...24,714,597
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 chr10:51,490,204...51,653,916 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 chr22:46,336,909...46,357,435
Ensembl chr22:46,336,829...46,355,723
JBrowse link
G SEMA6B semaphorin 6B ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25741868 NCBI chr 6:4,276,548...4,304,738 JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25741868 NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033
JBrowse link
G SLC6A1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy | ClinVar Annotator: match by term: Myoclonus epilepsy ClinVar PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More... NCBI chr22:47,033,436...47,076,785
Ensembl chr22:47,033,467...47,078,844
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 chr22:46,857,117...46,978,652
Ensembl chr22:46,857,569...46,978,088
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 chr 5:59,106,191...59,116,540
Ensembl chr 5:59,106,220...59,115,874
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 chr20:88,875,525...89,108,001 JBrowse link
G STXBP1 syntaxin binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18469812 PMID:29929108 NCBI chr12:10,440,061...10,519,798
Ensembl chr12:10,439,801...10,519,777
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 chr22:46,284,624...46,321,473
Ensembl chr22:46,284,685...46,321,710
JBrowse link
G TNRC6A trinucleotide repeat containing adaptor 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chr 5:22,341,159...22,553,822
Ensembl chr 5:22,453,931...22,553,843
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 chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428
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 chr13:26,152,974...26,266,676
Ensembl chr13:26,153,319...26,264,568
JBrowse link
G NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1 ClinVar PMID:25741868 NCBI chr17:54,017,947...54,020,015
Ensembl chr17:54,018,703...54,019,887
JBrowse link
Myoclonic Epilepsy of Lafora 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b | ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 2 OMIM
ClinVar
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16134145 More... NCBI chr17:54,017,947...54,020,015
Ensembl chr17:54,018,703...54,019,887
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 chr 5:2,302,249...2,336,188
Ensembl chr 5:2,302,341...2,335,270
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 chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976
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 chr15:87,679,656...87,778,767
Ensembl chr15:87,679,077...87,779,102
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 chr 5:2,353,543...2,378,950 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 chr22:45,799,225...45,814,343
Ensembl chr22:45,799,645...45,814,870
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 6:36,166,586...36,195,343
Ensembl chr 6:36,166,262...36,195,363
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 chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220
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 chr22:46,157,063...46,169,833
Ensembl chr22:46,156,652...46,170,546
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 chr22:45,740,192...45,756,327
Ensembl chr22:45,740,351...45,756,390
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 chr 6:11,883,353...12,307,023 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 chr22:45,763,799...45,776,792
Ensembl chr22:45,762,499...45,774,597
JBrowse link
G CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:46,161,238...46,178,128
Ensembl chr  X:46,170,651...46,177,244
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 chr29:11,436,170...11,579,468
Ensembl chr29:11,450,799...11,579,594
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 chr22:45,895,455...45,917,236
Ensembl chr22:45,895,249...45,910,658
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 chr22:45,714,168...45,738,368 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 chr22:45,960,253...45,969,973
Ensembl chr22:45,961,010...45,969,712
JBrowse link
G DNM1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chr12:9,874,098...9,927,737
Ensembl chr12:9,878,966...9,927,744
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 chr22:45,990,708...46,015,697
Ensembl chr22:45,987,731...46,015,712
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 chr22:46,072,797...46,141,107
Ensembl chr22:46,072,761...46,140,713
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:46,144,575...46,150,638
Ensembl chr22:46,144,859...46,145,392
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 chr15:86,252,816...86,836,363 JBrowse link
G FMR1 Fragile X messenger ribonucleoprotein 1 ISO protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:122,635,383...122,674,298
Ensembl chr  X:122,635,439...122,674,355
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 chr22:46,326,458...46,332,906
Ensembl chr22:46,325,913...46,330,962
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 chr22:45,944,385...45,960,188
Ensembl chr22:45,944,669...45,960,164
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 chr22:45,929,339...45,943,749 JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:49,363,569...49,452,872
Ensembl chr  X:49,364,909...49,387,050
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 chr22:46,204,600...46,279,863
Ensembl chr22:46,204,893...46,278,260
JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,917,319...45,921,082
Ensembl chr22:45,917,444...45,920,250
JBrowse link
G LIMK1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar NCBI chr28:8,953,095...8,988,848
Ensembl chr28:8,952,957...8,988,672
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 chr22:45,650,544...45,704,237
Ensembl chr22:45,650,556...45,713,176
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 chr22:45,757,414...45,763,690 JBrowse link
G PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:89,750,792...89,875,309 JBrowse link
G PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:46,179,842...46,182,769
Ensembl chr  X:46,179,835...46,183,552
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 chr22:45,970,474...45,978,764
Ensembl chr22:45,971,148...45,975,076
JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chr24:12,344,951...12,615,669
Ensembl chr24:12,344,934...12,615,622
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 chr 5:4,896,225...7,365,137 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 chr22:45,848,749...45,857,122
Ensembl chr22:45,848,788...45,857,117
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 chr10:51,490,204...51,653,916 JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 PMID:37845033 NCBI chr 6:29,962,993...29,972,845
Ensembl chr 6:29,962,843...29,973,325
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 chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145
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 chr11:47,770,513...47,983,843
Ensembl chr11:47,838,358...47,978,399
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 chr22:46,336,909...46,357,435
Ensembl chr22:46,336,829...46,355,723
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 chr16:6,060,445...6,089,867 JBrowse link
G SLC6A1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
OMIM
ClinVar
PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More... NCBI chr22:47,033,436...47,076,785
Ensembl chr22:47,033,467...47,078,844
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 chr22:46,857,117...46,978,652
Ensembl chr22:46,857,569...46,978,088
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 chr25:22,897,699...23,147,097
Ensembl chr25:22,897,469...23,145,218
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 chr12:10,440,061...10,519,798
Ensembl chr12:10,439,801...10,519,777
JBrowse link
G TADA3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,787,945...45,799,529
Ensembl chr22:45,786,012...45,798,019
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 chr22:46,284,624...46,321,473
Ensembl chr22:46,284,685...46,321,710
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 chr 5:2,353,543...2,378,950 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 chr22:45,817,048...45,843,878 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 chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428
JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:46,183,278...46,188,564
Ensembl chr  X:46,183,443...46,188,536
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 ISO ClinVar Annotator: match by term: KIF5A-related intractable neonatal myoclonus | ClinVar Annotator: match by term: Myoclonus, intractable, neonatal ClinVar
OMIM
PMID:18500496 PMID:18853458 PMID:21623771 PMID:22552817 PMID:22714410 More... NCBI chr11:53,458,795...53,493,801 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 chr16:4,211,592...4,213,639
Ensembl chr16:4,211,692...4,213,232
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 chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447
JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome ClinVar NCBI chr 5:21,021,181...21,107,746
Ensembl chr 5:21,022,133...21,107,824
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 chr 4:163,726...190,145 JBrowse link
Progressive Myoclonic Epilepsy 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b ClinVar PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16311711 More... NCBI chr17:54,017,947...54,020,015
Ensembl chr17:54,018,703...54,019,887
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 chr 2:86,098,818...86,176,101
Ensembl chr 2:86,099,414...86,179,949
JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:88,780,954...88,915,672
Ensembl chr 2:88,833,707...88,918,066
JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr18:70,890,939...70,939,504
Ensembl chr18:70,891,554...70,939,352
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 chr 2:87,622,839...87,735,552
Ensembl chr 2:87,654,097...87,730,785
JBrowse link
G AIRE autoimmune regulator ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:88,019,122...88,031,998
Ensembl chr 2:88,019,522...88,031,801
JBrowse link
G ART3 ADP-ribosyltransferase 3 (inactive) ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 7:24,505,862...24,614,799
Ensembl chr 7:24,577,172...24,616,629
JBrowse link
G ATN1 atrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10814707 NCBI chr11:6,959,568...6,973,341
Ensembl chr11:6,964,784...6,972,801
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 chr 2:85,769,419...85,837,269
Ensembl chr 2:85,766,996...85,837,182
JBrowse link
G CCDC158 coiled-coil domain containing 158 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 7:24,806,412...24,921,781
Ensembl chr 7:24,806,543...24,904,107
JBrowse link
G CDKL2 cyclin dependent kinase like 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 7:24,087,771...24,137,348
Ensembl chr 7:24,087,771...24,137,214
JBrowse link
G CERS1 ceramide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:17,331,021...17,351,542 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 chr 2:88,065,948...88,074,820
Ensembl chr 2:88,063,604...88,075,289
JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr29:11,436,170...11,579,468
Ensembl chr29:11,450,799...11,579,594
JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:27843123 More... NCBI chr 5:26,320,132...26,343,009
Ensembl chr 5:26,320,061...26,337,402
JBrowse link
G CLN5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:18414213 PMID:24767253 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:56,074,701...56,086,433
Ensembl chr 3:56,076,226...56,086,963
JBrowse link
G CLN6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:25741868 NCBI chr26:15,259,186...15,278,249 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 chr 2:89,129,674...89,186,490 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 chr 2:89,608,525...89,649,823 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 chr 2:89,724,355...89,758,389
Ensembl chr 2:89,737,003...89,758,425
JBrowse link
G CSTB cystatin B ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chr 2:87,551,341...87,555,145 JBrowse link
G CUNH21orf58 chromosome unknown C21orf58 homolog ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:89,916,904...89,934,889 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 chr 7:24,526,657...24,529,193
Ensembl chr 7:24,526,680...24,529,130
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 chr 7:24,540,401...24,543,456
Ensembl chr 7:24,541,767...24,542,832
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 chr 7:24,507,121...24,513,830
Ensembl chr 7:24,507,130...24,513,121
JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:303,195...310,618
Ensembl chr 2:307,988...310,475
JBrowse link
G DNMT3L DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:87,991,868...88,006,399
Ensembl chr 2:87,991,936...88,005,459
JBrowse link
G EPM2A EPM2A glucan phosphatase, laforin ISO 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 Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar PMID:9536098 PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 More... NCBI chr13:26,152,974...26,266,676
Ensembl chr13:26,153,319...26,264,568
JBrowse link
G FAM47E family with sequence similarity 47 member E ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 7:24,750,287...24,782,574 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 chr 3:56,089,147...56,111,472
Ensembl chr 3:56,088,938...56,105,977
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 chr 7:24,149,920...24,236,502
Ensembl chr 7:24,148,750...24,180,210
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 chr 2:87,884,102...87,902,413
Ensembl chr 2:87,884,118...87,904,379
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 chr16:60,630,505...60,664,596
Ensembl chr16:60,630,509...60,646,133
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 chr 2:87,262,882...87,434,217 JBrowse link
G ICOSLG inducible T cell costimulator ligand ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:87,974,651...87,986,867
Ensembl chr 2:87,973,786...87,986,639
JBrowse link
G ITGB2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:88,597,554...88,644,890
Ensembl chr 2:88,597,556...88,624,025
JBrowse link
G KCNC1 potassium voltage-gated channel subfamily C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 1:47,189,485...47,237,093
Ensembl chr 1:47,190,806...47,236,775
JBrowse link
G KCTD7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar NCBI chr28:2,255,817...2,276,616
Ensembl chr28:2,256,743...2,271,099
JBrowse link
G KRTAP12-1 keratin associated protein 12-1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:88,397,074...88,398,186 JBrowse link
G KRTAP12-2 keratin associated protein 12-2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:88,382,006...88,383,652 JBrowse link
G KRTAP12-3 keratin associated protein 12-3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:88,373,725...88,374,783
Ensembl chr 2:88,374,230...88,374,517
JBrowse link
G LMNB2 lamin B2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:2,207,096...2,234,258
Ensembl chr 6:2,209,989...2,234,215
JBrowse link
G LOC103219520 splicing factor U2AF 35 kDa subunit-like protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:86,949,910...86,964,655
Ensembl chr 2:86,950,056...86,964,579
JBrowse link
G LOC103219558 serine/threonine-protein kinase SIK1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:87,204,386...87,217,044
Ensembl chr 2:87,204,357...87,216,180
JBrowse link
G LOC103219922 keratin-associated protein 10-12 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:88,292,219...88,295,532 JBrowse link
G LOC103219967 thrombospondin-type laminin G domain and EAR repeat-containing protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:88,219,663...88,425,531
Ensembl chr 2:88,221,529...88,287,701
JBrowse link
G LOC103220313 formimidoyltransferase-cyclodeaminase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:89,761,600...89,778,572
Ensembl chr 2:89,761,248...89,782,238
JBrowse link
G LOC103220344 spermatogenesis and centriole associated 1 like ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:89,781,950...89,805,927
Ensembl chr 2:89,782,182...89,803,593
JBrowse link
G LOC103221104 cystathionine beta-synthase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:86,905,104...86,933,780 JBrowse link
G LOC103243271 leucine-rich repeat-containing protein 37A3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19057520 PMID:21549339 More... NCBI chr16:59,592,891...59,634,813 JBrowse link
G LOC119619328 keratin-associated protein 12-4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532
G LOC119619413 keratin-associated protein 10-3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532
G LRRC3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:88,176,282...88,179,587
Ensembl chr 2:88,177,399...88,178,172
JBrowse link
G LSS lanosterol synthase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:89,809,065...89,846,295
Ensembl chr 2:89,811,698...89,846,242
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 chr 2:89,852,450...89,900,002
Ensembl chr 2:89,852,447...89,890,054
JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:28492532 NCBI chr 7:75,043,740...75,096,894
Ensembl chr 7:75,046,545...75,072,258
JBrowse link
G NAAA N-acylethanolamine acid amidase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 7:24,420,378...24,450,010
Ensembl chr 7:24,423,052...24,449,793
JBrowse link
G NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:86,750,630...86,759,744
Ensembl chr 2:86,750,648...86,759,826
JBrowse link
G NEU1 neuraminidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr17:40,158,530...40,162,254
Ensembl chr17:40,158,679...40,161,723
JBrowse link
G NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr17:54,017,947...54,020,015
Ensembl chr17:54,018,703...54,019,887
JBrowse link
G NUP54 nucleoporin 54 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 7:24,616,645...24,649,595
Ensembl chr 7:24,613,767...24,650,359
JBrowse link
G ODAPH odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 7:24,062,924...24,073,371
Ensembl chr 7:24,063,695...24,072,500
JBrowse link
G OPTN optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr 9:13,142,036...13,176,996
Ensembl chr 9:13,150,426...13,177,021
JBrowse link
G PCBP3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:89,304,497...89,585,037 JBrowse link
G PCNT pericentrin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:89,934,888...90,046,767
Ensembl chr 2:89,936,210...90,046,328
JBrowse link
G PDE9A phosphodiesterase 9A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:86,541,151...86,656,390
Ensembl chr 2:86,541,326...86,658,157
JBrowse link
G PFKL phosphofructokinase, liver type ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:88,035,409...88,063,376
Ensembl chr 2:88,035,347...88,063,442
JBrowse link
G PKNOX1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:86,857,155...86,882,365
Ensembl chr 2:86,856,632...86,881,550
JBrowse link
G POFUT2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:88,949,293...88,973,007 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 chr 7:24,371,242...24,407,311
Ensembl chr 7:24,371,587...24,406,695
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 chr20:92,809,373...92,833,048
Ensembl chr20:92,809,552...92,833,244
JBrowse link
G PRDM15 PR/SET domain 15 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:85,686,292...85,761,365
Ensembl chr 2:85,685,932...85,742,611
JBrowse link
G PRDM8 PR/SET domain 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:28,610,166...28,631,712
Ensembl chr 7:28,626,265...28,629,707
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 chr11:38,696,771...38,819,324
Ensembl chr11:38,694,602...38,718,519
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 chr22:25,128,160...25,481,385
Ensembl chr22:25,133,352...25,303,131
JBrowse link
G PRNP prion protein (Kanno blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 2:33,368,020...33,384,556
Ensembl chr 2:33,369,629...33,370,366
JBrowse link
G PTTG1IP PTTG1 interacting protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:88,559,286...88,586,016
Ensembl chr 2:88,559,285...88,585,091
JBrowse link
G PWP2 PWP2 small subunit processome component ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:87,858,003...87,881,072
Ensembl chr 2:87,858,029...87,881,102
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 chr 2:85,627,307...85,654,079
Ensembl chr 2:85,627,073...85,653,927
JBrowse link
G RRP1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:87,560,229...87,579,019 JBrowse link
G RRP1B ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:87,434,214...87,471,553
Ensembl chr 2:87,434,304...87,471,627
JBrowse link
G RSPH1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:86,348,365...86,371,908
Ensembl chr 2:86,348,056...86,371,858
JBrowse link
G SACS sacsin molecular chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 3:3,217,640...3,323,801
Ensembl chr 3:3,216,397...3,323,754
JBrowse link
G SCARB2 scavenger receptor class B member 2 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
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 PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 More... NCBI chr 7:24,658,734...24,714,631
Ensembl chr 7:24,658,211...24,714,597
JBrowse link
G SDAD1 SDA1 domain containing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 7:24,458,854...24,496,946 JBrowse link
G SERPINI1 serpin family I member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr15:21,610,545...21,696,611
Ensembl chr15:21,610,791...21,645,701
JBrowse link
G SHROOM3 shroom family member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 7:25,185,130...25,279,765
Ensembl chr 7:25,215,232...25,283,214
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 chr 2:89,188,171...89,232,081
Ensembl chr 2:89,188,733...89,209,281
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 chr 2:86,375,198...86,457,028
Ensembl chr 2:86,390,936...86,457,096
JBrowse link
G SLX9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:88,652,219...88,703,220
Ensembl chr 2:88,652,222...88,690,577
JBrowse link
G STBD1 starch binding domain 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 7:24,799,870...24,804,273
Ensembl chr 7:24,799,906...24,804,473
JBrowse link
G SUMO3 small ubiquitin like modifier 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:88,516,906...88,529,098 JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 5:2,353,543...2,378,950 JBrowse link
G TFF1 trefoil factor 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:86,239,101...86,244,491
Ensembl chr 2:86,239,105...86,243,795
JBrowse link
G TFF2 trefoil factor 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:86,223,113...86,228,964 JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:86,248,792...86,273,715
Ensembl chr 2:86,245,507...86,272,196
JBrowse link
G TPP1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:58,205,999...58,211,743
Ensembl chr 1:58,206,072...58,210,945
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 chr 2:87,760,813...87,856,630
Ensembl chr 2:87,761,479...87,857,418
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 chr 2:88,082,391...88,170,340
Ensembl chr 2:88,087,448...88,170,344
JBrowse link
G TSC1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17484760 NCBI chr12:5,195,604...5,249,042
Ensembl chr12:5,195,675...5,244,157
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 chr 2:86,279,762...86,330,281
Ensembl chr 2:86,280,198...86,332,756
JBrowse link
G UBE2G2 ubiquitin conjugating enzyme E2 G2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:88,481,221...88,512,998
Ensembl chr 2:88,483,204...88,498,067
JBrowse link
G UMODL1 uromodulin like 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:85,894,102...86,023,577
Ensembl chr 2:85,959,746...86,019,950
JBrowse link
G USO1 USO1 vesicle transport factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 7:24,236,601...24,325,575
Ensembl chr 7:24,236,698...24,325,630
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 chr 2:86,715,939...86,745,972
Ensembl chr 2:86,716,922...86,745,547
JBrowse link
G WNT9B Wnt family member 9B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:21549339 PMID:28492532 NCBI chr16:60,560,132...60,596,782
Ensembl chr16:60,581,258...60,586,596
JBrowse link
G YBEY ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr 2:89,905,119...89,910,307
Ensembl chr 2:89,905,127...89,909,324
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 chr 2:85,871,708...85,894,964
Ensembl chr 2:85,875,805...85,879,005
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 chr 7:28,345,849...28,499,818
Ensembl chr 7:28,375,899...28,499,522
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 chr 7:28,610,166...28,631,712
Ensembl chr 7:28,626,265...28,629,707
JBrowse link
Progressive Myoclonus Epilepsy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SEMA6B semaphorin 6B ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 11 | ClinVar Annotator: match by term: SEMA6B-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:32169168 PMID:35604360 NCBI chr 6:4,276,548...4,304,738 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 chr 5:59,058,827...59,106,177
Ensembl chr 5:59,058,846...59,106,106
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 chr 5:59,106,191...59,116,540
Ensembl chr 5:59,106,220...59,115,874
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 chr 2:87,551,341...87,555,145 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 chr11:38,696,771...38,819,324
Ensembl chr11:38,694,602...38,718,519
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 chr 5:2,353,543...2,378,950 JBrowse link
progressive myoclonus epilepsy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:26,320,132...26,343,009
Ensembl chr 5:26,320,061...26,337,402
JBrowse link
G KCTD7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 3, with intracellular inclusions OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17455289 PMID:17576681 PMID:18414213 More... NCBI chr28:2,255,817...2,276,616
Ensembl chr28:2,256,743...2,271,099
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 chr15:63,954,331...64,334,300 JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome ClinVar PMID:25741868 NCBI chr 2:531,905...567,430
Ensembl chr 2:531,085...566,840
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 chr 7:24,658,734...24,714,631
Ensembl chr 7:24,658,211...24,714,597
JBrowse link
progressive myoclonus epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr29:7,788,983...7,864,505
Ensembl chr29:7,790,458...7,855,552
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 chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5
ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr29:7,864,319...7,881,577
Ensembl chr29:7,863,277...7,882,068
JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 ClinVar PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 More... NCBI chr22:25,128,160...25,481,385
Ensembl chr22:25,133,352...25,303,131
JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 ClinVar PMID:21689831 PMID:25741868 PMID:28492532 NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164
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 chr16:60,630,505...60,664,596
Ensembl chr16:60,630,509...60,646,133
JBrowse link
G LOC103243271 leucine-rich repeat-containing protein 37A3 ISO ClinVar Annotator: match by term: GOSR2-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 ClinVar PMID:16199547 PMID:19057520 PMID:21549339 PMID:23449775 PMID:24458321 More... NCBI chr16:59,592,891...59,634,813 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 chr20:2,767,864...2,780,336
Ensembl chr20:2,768,064...2,780,704
JBrowse link
progressive myoclonus epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSRP3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:45,792,106...45,813,715
Ensembl chr 1:45,803,243...45,813,800
JBrowse link
G GTF2H1 general transcription factor IIH subunit 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:46,573,907...46,620,443
Ensembl chr 1:46,573,393...46,609,261
JBrowse link
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:46,620,544...46,665,334
Ensembl chr 1:46,619,914...46,664,126
JBrowse link
G IGSF22 immunoglobulin superfamily member 22 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:46,201,214...46,222,115
Ensembl chr 1:46,201,855...46,225,533
JBrowse link
G KCNC1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: KCNC1-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25363768 PMID:25401298 PMID:25741868 More... NCBI chr 1:47,189,485...47,237,093
Ensembl chr 1:47,190,806...47,236,775
JBrowse link
G LDHA lactate dehydrogenase A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:46,525,090...46,542,587 JBrowse link
G LDHAL6A lactate dehydrogenase A like 6A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:46,452,330...46,476,419
Ensembl chr 1:46,452,552...46,475,222
JBrowse link
G LDHC lactate dehydrogenase C ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:46,480,425...46,528,307 JBrowse link
G LOC103239275 serum amyloid A-4 protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:46,703,086...46,709,083
Ensembl chr 1:46,702,959...46,712,572
JBrowse link
G LOC103239432 myoblast determination protein 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:47,250,927...47,254,572
Ensembl chr 1:47,251,551...47,253,284
JBrowse link
G MRGPRX2 MAS related GPR family member X2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:45,925,912...45,932,284
Ensembl chr 1:45,930,332...45,931,324
JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:47,323,579...47,428,029
Ensembl chr 1:47,325,745...47,425,607
JBrowse link
G PTPN5 protein tyrosine phosphatase non-receptor type 5 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:46,134,109...46,197,246
Ensembl chr 1:46,153,340...46,199,002
JBrowse link
G SAAL1 serum amyloid A like 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:46,868,005...46,894,634
Ensembl chr 1:46,868,143...46,894,914
JBrowse link
G SERGEF secretion regulating guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:46,956,423...47,185,574 JBrowse link
G SPTY2D1 SPT2 chromatin protein domain containing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:46,289,350...46,315,653
Ensembl chr 1:46,289,466...46,316,910
JBrowse link
G TMEM86A transmembrane protein 86A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:46,220,818...46,227,848
Ensembl chr 1:46,224,426...46,227,727
JBrowse link
G TPH1 tryptophan hydroxylase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:46,921,682...46,947,906 JBrowse link
G TSG101 tumor susceptibility 101 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:46,401,889...46,451,122
Ensembl chr 1:46,402,024...46,450,916
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 chr 1:46,332,198...46,396,855
Ensembl chr 1:46,334,562...46,400,375
JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834
JBrowse link
G ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:45,819,877...45,873,302
Ensembl chr 1:45,820,339...45,854,299
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 chr 6:17,496,163...17,523,144
Ensembl chr 6:17,496,215...17,523,298
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 chr 6:17,331,021...17,351,542 JBrowse link
G COMP cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 6:17,246,617...17,255,561
Ensembl chr 6:17,246,762...17,255,126
JBrowse link
G COPE COPI coat complex subunit epsilon ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 6:17,354,926...17,375,935
Ensembl chr 6:17,354,508...17,375,922
JBrowse link
G DDX49 DEAD-box helicase 49 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 6:17,376,050...17,384,625
Ensembl chr 6:17,376,273...17,384,663
JBrowse link
G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19243074 PMID:24033266 More... Ensembl chr 6:17,329,143...17,330,837 JBrowse link
G HOMER3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 6:17,385,176...17,396,506
Ensembl chr 6:17,385,175...17,394,319
JBrowse link
G LOC103234208 BLOC-1-related complex subunit 8 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 6:17,648,714...17,660,931
Ensembl chr 6:17,648,758...17,660,877
JBrowse link
G NR2C2AP nuclear receptor 2C2 associated protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 6:17,669,412...17,671,640
Ensembl chr 6:17,669,933...17,671,398
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 chr 6:17,657,069...17,669,872
Ensembl chr 6:17,657,942...17,671,417
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 chr 6:17,529,048...17,577,092
Ensembl chr 6:17,529,312...17,577,093
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 chr 6:17,453,085...17,496,161
Ensembl chr 6:17,455,840...17,492,313
JBrowse link
G TMEM161A transmembrane protein 161A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 6:17,586,202...17,604,835
Ensembl chr 6:17,584,268...17,601,206
JBrowse link
G UPF1 UPF1 RNA helicase and ATPase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 6:17,291,189...17,328,768
Ensembl chr 6:17,291,175...17,330,193
JBrowse link
progressive myoclonus epilepsy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD17A abhydrolase domain containing 17A, depalmitoylase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,678,836...1,687,370
Ensembl chr 6:1,676,438...1,687,353
JBrowse link
G ADAMTSL5 ADAMTS like 5 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,278,045...1,287,257
Ensembl chr 6:1,279,036...1,284,946
JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,695,897...1,705,718 JBrowse link
G AMH anti-Mullerian hormone ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,047,756...2,051,073
Ensembl chr 6:2,048,319...2,050,958
JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,901,669...1,951,352
Ensembl chr 6:1,901,507...1,951,314
JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,218,684...1,244,343 JBrowse link
G ATP8B3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,575,914...1,602,798 JBrowse link
G BTBD2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,785,433...1,809,931 JBrowse link
G CSNK1G2 casein kinase 1 gamma 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,743,018...1,781,844
Ensembl chr 6:1,743,061...1,783,406
JBrowse link
G CUNH19orf25 chromosome unknown C19orf25 homolog ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,245,150...1,250,512
Ensembl chr 6:1,245,729...1,250,461
JBrowse link
G DOT1L DOT1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,962,077...2,030,732
Ensembl chr 6:1,962,279...2,026,455
JBrowse link
G GADD45B growth arrest and DNA damage inducible beta ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,248,566...2,250,718
Ensembl chr 6:2,248,583...2,250,889
JBrowse link
G GNA11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,858,880...2,887,694
Ensembl chr 6:2,858,937...2,887,704
JBrowse link
G GNG7 G protein subunit gamma 7 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,287,339...2,485,304
Ensembl chr 6:2,287,895...2,293,067
JBrowse link
G IZUMO4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,897,533...1,900,266
Ensembl chr 6:1,897,573...1,900,295
JBrowse link
G KLF16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,657,265...1,668,431
Ensembl chr 6:1,659,316...1,668,327
JBrowse link
G LINGO3 leucine rich repeat and Ig domain containing 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,081,234...2,103,094
Ensembl chr 6:2,082,224...2,084,002
JBrowse link
G LMNB2 lamin B2 susceptibility ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar
OMIM
PMID:9536098 PMID:16826530 PMID:17576681 PMID:22768673 PMID:22995991 More... NCBI chr 6:2,207,096...2,234,258
Ensembl chr 6:2,209,989...2,234,215
JBrowse link
G LOC103233614 cytochrome b-c1 complex subunit 10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,378,019...1,388,975 JBrowse link
G LOC103233654 GTP-binding protein Di-Ras1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,491,978...2,494,791
Ensembl chr 6:2,493,475...2,494,071
JBrowse link
G LSM7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,108,212...2,121,547
Ensembl chr 6:2,108,212...2,121,571
JBrowse link
G MBD3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,357,388...1,371,835
Ensembl chr 6:1,357,204...1,371,777
JBrowse link
G MEX3D mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,315,113...1,347,540 JBrowse link
G MKNK2 MAPK interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,836,009...1,851,325
Ensembl chr 6:1,835,993...1,851,039
JBrowse link
G MOB3A MOB kinase activator 3A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,872,426...1,897,476
Ensembl chr 6:1,870,701...1,885,300
JBrowse link
G OAZ1 ornithine decarboxylase antizyme 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,061,774...2,065,595
Ensembl chr 6:2,061,811...2,065,265
JBrowse link
G ONECUT3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 Ensembl chr 6:1,540,584...1,569,628 JBrowse link
G PCSK4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,253,729...1,264,114
Ensembl chr 6:1,254,276...1,263,847
JBrowse link
G PEAK3 PEAK family member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,066,731...2,074,189
Ensembl chr 6:2,067,476...2,072,727
JBrowse link
G PLEKHJ1 pleckstrin homology domain containing J1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,031,245...2,034,791
Ensembl chr 6:2,031,650...2,034,324
JBrowse link
G PLK5 polo like kinase 5 (inactive) ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,301,199...1,309,349 JBrowse link
G REEP6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,264,551...1,271,674 JBrowse link
G REXO1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,605,913...1,638,819
Ensembl chr 6:1,604,929...1,638,468
JBrowse link
G SCAMP4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,695,545...1,718,633
Ensembl chr 6:1,695,876...1,719,189
JBrowse link
G SF3A2 splicing factor 3a subunit 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,034,892...2,047,653
Ensembl chr 6:2,041,384...2,047,542
JBrowse link
G SGTA small glutamine rich tetratricopeptide repeat co-chaperone alpha ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,534,398...2,562,306
Ensembl chr 6:2,534,376...2,548,604
JBrowse link
G SLC39A3 solute carrier family 39 member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532
G SPPL2B signal peptide peptidase like 2B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,121,568...2,142,746
Ensembl chr 6:2,121,634...2,144,682
JBrowse link
G TCF3 transcription factor 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:1,393,147...1,440,515
Ensembl chr 6:1,393,107...1,440,479
JBrowse link
G THOP1 thimet oligopeptidase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,564,445...2,590,029 JBrowse link
G TIMM13 translocase of inner mitochondrial membrane 13 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,204,751...2,207,044
Ensembl chr 6:2,206,089...2,206,673
JBrowse link
G TLE2 TLE family member 2, transcriptional corepressor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,770,558...2,792,228 JBrowse link
G TLE5 TLE family member 5, transcriptional modulator ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,822,814...2,832,625 JBrowse link
G TLE6 TLE family member 6, subcortical maternal complex member ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,750,838...2,768,451
Ensembl chr 6:2,751,525...2,768,269
JBrowse link
G TMPRSS9 transmembrane serine protease 9 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,148,025...2,205,398 JBrowse link
G ZNF554 zinc finger protein 554 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,595,297...2,610,917 JBrowse link
G ZNF555 zinc finger protein 555 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,617,392...2,632,038
Ensembl chr 6:2,628,241...2,631,603
JBrowse link
G ZNF556 zinc finger protein 556 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,649,000...2,662,610 JBrowse link
G ZNF77 zinc finger protein 77 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 6:2,709,670...2,719,315 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 chr 8:16,151,974...16,181,726
Ensembl chr 8:16,151,247...16,181,155
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 chr 2:87,551,341...87,555,145 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15417
    Pathological Conditions, Signs and Symptoms 12061
      Signs and Symptoms 10142
        Neurologic Manifestations 9819
          Dyskinesias 2140
            Myoclonus 406
              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 + 400
              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 15417
    disease of anatomical entity 15080
      nervous system disease 13230
        central nervous system disease 11819
          brain disease 11089
            movement disease 2514
              Dyskinesias 2140
                Myoclonus 406
                  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 + 400
                  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