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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Myoclonus
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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



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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:156,932,481...156,995,981
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Myoclonus ClinVar NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:50,302,877...50,437,214
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Myoclonus ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:131,982,480...132,151,292
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Myoclonus ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,209,895...13,236,050
JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Myoclonus ClinVar PMID:25741868
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy OMIM
ClinVar
PMID:25741868 NCBI chr 4:159,240,573...159,254,378
Ensembl chr 4:157,551,276...157,568,132
JBrowse link
developmental and epileptic encephalopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 ClinVar PMID:25741868 NCBI chr 1:205,966,392...205,972,359
Ensembl chr 1:196,536,834...196,542,699
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3
OMIM
CTD
ClinVar
PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25033742 More... NCBI chr 1:205,954,713...205,966,188
Ensembl chr 1:196,528,472...196,536,331
JBrowse link
Dravet syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: Dravet syndrome ClinVar PMID:22279524 PMID:25500575 PMID:25741868 PMID:28492532 PMID:29390993 NCBI chr12:19,043,004...19,065,686
Ensembl chr12:13,928,898...13,941,248
JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 2:184,997,425...185,024,785
Ensembl chr 2:182,308,714...182,334,645
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar NCBI chr10:26,876,926...26,965,523
Ensembl chr10:26,374,694...26,464,346
JBrowse link
G Lysmd1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,704,921...182,714,466
Ensembl chr 2:182,704,916...182,710,412
JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:185,229,392...185,261,697
Ensembl chr 2:182,540,567...182,588,488
JBrowse link
G Pip5k1a phosphatidylinositol-4-phosphate 5-kinase, type 1, alpha ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:185,317,319...185,361,859
Ensembl chr 2:182,628,300...182,671,598
JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 2:185,069,492...185,129,741
Ensembl chr 2:182,380,768...182,440,707
JBrowse link
G Psmb4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 2:185,131,787...185,134,561
Ensembl chr 2:182,442,756...182,445,746
JBrowse link
G Psmd4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:185,287,941...185,297,238
Ensembl chr 2:182,598,934...182,608,194
JBrowse link
G Rfx5 regulatory factor X5 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 2:182,521,191...182,528,720
Ensembl chr 2:182,521,202...182,528,717
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO
ISS
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6 | ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy 6 | ClinVar Annotator: match by term: SEVERE MYOCLONIC EPILEPSY OF INFANCY | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6 | ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy 6 | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
OMIM:607208
OMIM
ClinVar
MouseDO
PMID:1893009 PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 More... NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:95,481,298...95,491,211
Ensembl chr 1:86,353,917...86,363,739
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:50,302,877...50,437,214
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: SEVERE MYOCLONIC EPILEPSY OF INFANCY | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 More... NCBI chr 3:71,553,185...71,701,377
Ensembl chr 3:51,145,146...51,293,516
JBrowse link
G Selenbp1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 2:185,183,022...185,193,612
Ensembl chr 2:182,493,978...182,504,594
JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar Annotator: match by term: SEVERE MYOCLONIC EPILEPSY OF INFANCY | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894286 PMID:28492532 More... NCBI chr 2:184,824,930...184,907,931
Ensembl chr 2:182,135,905...182,218,906
JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:185,384,547...185,389,549
Ensembl chr 2:182,695,709...182,700,540
JBrowse link
G Tnfaip8l2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:185,399,442...185,415,798
Ensembl chr 2:182,709,378...182,726,760
JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 2:184,949,437...184,995,321
Ensembl chr 2:182,260,398...182,306,192
JBrowse link
G Vps72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,678,594...182,690,185
Ensembl chr 2:182,678,609...182,690,182
JBrowse link
G Zfp687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 2:182,572,893...182,581,641
Ensembl chr 2:182,572,662...182,583,647
JBrowse link
early myoclonic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr10:13,757,884...13,783,669
Ensembl chr10:13,253,380...13,279,101
JBrowse link
G Diras1 DIRAS family GTPase 1 ISO Epilepsy, generalized myoclonic, with photosensitivity OMIA PMID:28223533 PMID:29194766 PMID:38003185 NCBI chr 7:8,687,964...8,692,828
Ensembl chr 7:8,687,942...8,693,831
JBrowse link
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr20:21,050,149...21,055,201
Ensembl chr20:21,051,277...21,055,562
JBrowse link
G Jmjd1c jumonji domain containing 1C ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22495311 PMID:25741868 More... NCBI chr20:21,330,990...21,508,580
Ensembl chr20:21,332,147...21,463,122
JBrowse link
G Kcnd2 potassium voltage-gated channel subfamily D member 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19171772 PMID:24501278 More... NCBI chr 4:50,741,595...51,243,540
Ensembl chr 4:49,776,246...50,277,728
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:25741868 PMID:28492532 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Nrbf2 nuclear receptor binding factor 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr20:21,307,389...21,325,724
Ensembl chr20:21,308,576...21,326,818
JBrowse link
G Nubpl NUBP iron-sulfur cluster assembly factor like ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 PMID:25326637 More... NCBI chr 6:75,294,609...75,516,603
Ensembl chr 6:69,559,291...69,781,253
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 More... NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 More... NCBI chr 3:71,553,185...71,701,377
Ensembl chr 3:51,145,146...51,293,516
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar PMID:15592994 PMID:18414213 PMID:19780765 PMID:25033742 PMID:25741868 More... NCBI chr 1:205,954,713...205,966,188
Ensembl chr 1:196,528,472...196,536,331
JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:184,824,930...184,907,931
Ensembl chr 2:182,135,905...182,218,906
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile
ClinVar PMID:18414213 PMID:22277662 PMID:23526554 PMID:24033266 PMID:24291220 More... NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,209,895...13,236,050
JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr 4:51,279,562...51,355,030
Ensembl chr 4:50,313,772...50,389,246
JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:30744660 PMID:31833200 NCBI chr 7:131,992,151...131,996,850
Ensembl chr 7:130,081,032...130,196,186
JBrowse link
familial adult myoclonic epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr 7:86,658,709...86,953,879
Ensembl chr 7:84,768,254...85,271,766
JBrowse link
familial adult myoclonic epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adra2b adrenoceptor alpha 2B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 ClinVar PMID:25741868 PMID:27124789 PMID:27431290 PMID:31130284 PMID:37644014 NCBI chr 3:135,038,481...135,042,527
Ensembl chr 3:114,585,169...114,589,355
JBrowse link
G Stard7 StAR-related lipid transfer domain containing 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2
OMIM
CTD
ClinVar
PMID:25741868 NCBI chr 3:114,487,161...114,515,828
Ensembl chr 3:114,485,600...114,515,813
JBrowse link
familial adult myoclonic epilepsy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Marchf6 membrane associated ring-CH-type finger 6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr 2:82,455,686...82,532,917
Ensembl chr 2:82,455,689...82,532,910
JBrowse link
familial adult myoclonic epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yeats2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 4 | ClinVar Annotator: match by term: YEATS2-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr11:94,247,538...94,333,652
Ensembl chr11:80,743,134...80,829,208
JBrowse link
familial adult myoclonic epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adipor1 adiponectin receptor 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,411,438...48,431,251
Ensembl chr13:45,859,533...45,879,241
JBrowse link
G Adora1 adenosine A1 receptor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,210,922...48,247,826
Ensembl chr13:45,658,872...45,695,801
JBrowse link
G Arl8a ARF like GTPase 8A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:49,137,632...49,146,633
Ensembl chr13:46,585,845...46,594,851
JBrowse link
G Ascl5 achaete-scute family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,491,799...47,493,269
Ensembl chr13:47,492,026...47,492,592
JBrowse link
G Atp2b4 ATPase plasma membrane Ca2+ transporting 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,708,157...47,807,389
Ensembl chr13:45,156,146...45,255,246
JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,046,531...43,059,046
Ensembl chr13:43,046,267...43,057,792
JBrowse link
G Btg2 BTG anti-proliferation factor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,083,931...48,087,690
Ensembl chr13:45,531,925...45,535,628
JBrowse link
G Cacna1s calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:50,045,668...50,115,903
Ensembl chr13:47,493,949...47,564,318
JBrowse link
G Camsap2 calmodulin regulated spectrin-associated protein family, member 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,723,251...47,802,606
Ensembl chr13:47,723,121...47,802,597
JBrowse link
G Cdk18 cyclin-dependent kinase 18 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,555,597...43,582,210
Ensembl chr13:43,556,748...43,588,525
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,193,839...48,201,822
Ensembl chr13:45,641,802...45,649,787
JBrowse link
G Chit1 chitinase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,117,886...48,165,645
Ensembl chr13:45,593,845...45,613,592
JBrowse link
G Cntn2 contactin 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 OMIM
ClinVar
PMID:9536098 PMID:11178983 PMID:16199547 PMID:17576681 PMID:23518707 More... NCBI chr13:43,942,868...43,975,973
Ensembl chr13:43,947,265...43,975,887
JBrowse link
G Csrp1 cysteine and glycine-rich protein 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:49,709,928...49,731,141
Ensembl chr13:47,167,789...47,179,384
JBrowse link
G Ctse cathepsin E ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,644,168...45,666,722
Ensembl chr13:43,092,128...43,114,502
JBrowse link
G Cyb5r1 cytochrome b5 reductase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,849,017...45,855,458
Ensembl chr13:45,849,091...45,855,458
JBrowse link
G Ddx59 DEAD-box helicase 59 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,876,258...47,901,214
Ensembl chr13:47,876,261...47,901,214
JBrowse link
G Dstyk dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,857,266...43,905,280
Ensembl chr13:43,857,266...43,905,269
JBrowse link
G Dyrk3 dual specificity tyrosine phosphorylation regulated kinase 3 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:42,594,120...42,604,898
Ensembl chr13:42,594,121...42,604,778
JBrowse link
G Eif2d eukaryotic translation initiation factor 2D ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,168,161...45,189,362
Ensembl chr13:42,615,911...42,639,719
JBrowse link
G Elf3 E74 like ETS transcription factor 3 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,690,460...46,695,394
Ensembl chr13:46,690,466...46,695,481
JBrowse link
G Elk4 ETS transcription factor ELK4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,004,145...46,027,206
Ensembl chr13:43,435,843...43,475,035
JBrowse link
G Etnk2 ethanolamine kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,362,964...47,381,100
Ensembl chr13:44,811,015...44,829,037
JBrowse link
G Fam72a family with sequence similarity 72, member A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,519,940...45,531,322
Ensembl chr13:42,967,578...42,984,208
JBrowse link
G Fmod fibromodulin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,045,567...48,056,184
Ensembl chr13:45,493,517...45,504,133
JBrowse link
G Golt1a golgi transport 1A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,312,412...47,325,176
Ensembl chr13:44,760,380...44,773,122
JBrowse link
G Gpr25 G protein-coupled receptor 25 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,712,815...47,714,721
Ensembl chr13:47,713,592...47,714,671
JBrowse link
G Gpr37l1 G protein-coupled receptor 37-like 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:49,150,355...49,157,204
Ensembl chr13:46,598,578...46,605,421
JBrowse link
G Igfn1 immunoglobulin-like and fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,395,618...47,427,506
Ensembl chr13:47,395,595...47,437,879
JBrowse link
G Ikbke inhibitor of nuclear factor kappa B kinase subunit epsilon ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,264,404...45,290,737
Ensembl chr13:42,712,159...42,737,143
JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Inava innate immunity activator ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:50,218,149...50,238,430
Ensembl chr13:47,666,447...47,686,729
JBrowse link
G Ipo9 importin 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:49,362,244...49,414,477
Ensembl chr13:46,813,171...46,862,673
JBrowse link
G Kdm5b lysine demethylase 5B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,554,367...48,625,721
Ensembl chr13:46,002,542...46,073,872
JBrowse link
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:50,478,646...50,542,256
Ensembl chr13:47,927,044...47,989,164
JBrowse link
G Kif21b kinesin family member 21B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:50,127,842...50,177,822
Ensembl chr13:47,576,160...47,626,127
JBrowse link
G Kiss1 KiSS-1 metastasis-suppressor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,327,159...47,332,759
Ensembl chr13:44,774,823...44,780,612
JBrowse link
G Klhdc8a kelch domain containing 8A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,735,702...43,744,277
Ensembl chr13:43,736,192...43,744,277
JBrowse link
G Klhl12 kelch-like family member 12 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,451,920...48,485,638
Ensembl chr13:45,899,928...45,933,643
JBrowse link
G Lad1 ladinin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:49,801,347...49,815,709
Ensembl chr13:47,249,605...47,263,967
JBrowse link
G Lax1 lymphocyte transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,134,825...45,145,381
Ensembl chr13:45,134,834...45,145,381
JBrowse link
G Lemd1 LEM domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,631,705...43,697,765
Ensembl chr13:43,665,926...43,697,948
JBrowse link
G Lgr6 leucine-rich repeat-containing G protein-coupled receptor 6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,976,193...49,095,870
Ensembl chr13:46,424,383...46,543,945
JBrowse link
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:49,305,693...49,347,970
Ensembl chr13:46,754,033...46,794,900
JBrowse link
G Lrrn2 leucine rich repeat neuronal 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:44,321,944...44,382,454
Ensembl chr13:44,321,364...44,382,482
JBrowse link
G Mapkapk2 MAPK activated protein kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,066,027...45,112,326
Ensembl chr13:42,513,762...42,560,457
JBrowse link
G Mdm4 MDM4 regulator of p53 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,922,236...47,068,241
Ensembl chr13:44,406,213...44,474,226
JBrowse link
G Mfsd4a major facilitator superfamily domain containing 4A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,469,488...43,510,467
Ensembl chr13:43,469,488...43,510,467
JBrowse link
G Mybph myosin binding protein H ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,205,162...48,212,928
Ensembl chr13:45,653,234...45,660,893
JBrowse link
G Myog myogenin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,297,476...48,300,065
Ensembl chr13:45,745,436...45,748,039
JBrowse link
G Nav1 neuron navigator 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:49,418,755...49,671,117
Ensembl chr13:46,873,689...47,126,449
JBrowse link
G Nfasc neurofascin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,549,369...46,735,989
Ensembl chr13:43,997,224...44,183,880
JBrowse link
G Nuak2 NUAK family kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,305,744...46,322,755
Ensembl chr13:43,753,832...43,770,604
JBrowse link
G Nucks1 nuclear casein kinase and cyclin-dependent kinase substrate 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,897,275...45,926,491
Ensembl chr13:43,345,115...43,370,229
JBrowse link
G Optc opticin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,906,145...47,920,334
Ensembl chr13:45,355,148...45,365,237
JBrowse link
G Phlda3 pleckstrin homology-like domain, family A, member 3 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:49,745,003...49,748,088
Ensembl chr13:47,193,086...47,196,335
JBrowse link
G Pik3c2b phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:44,494,673...44,555,663
Ensembl chr13:44,495,050...44,555,612
JBrowse link
G Pkp1 plakophilin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:49,861,340...49,909,162
Ensembl chr13:47,309,614...47,357,465
JBrowse link
G Plekha6 pleckstrin homology domain containing A6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,166,899...47,307,003
Ensembl chr13:44,615,011...44,754,673
JBrowse link
G Pm20d1 peptidase M20 domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,237,954...43,259,999
Ensembl chr13:43,237,971...43,259,999
JBrowse link
G Ppfia4 PTPRF interacting protein alpha 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,305,844...48,354,329
Ensembl chr13:45,753,827...45,802,261
JBrowse link
G Ppp1r12b protein phosphatase 1, regulatory subunit 12B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,751,256...48,948,933
Ensembl chr13:46,201,251...46,397,108
JBrowse link
G Ppp1r15b protein phosphatase 1, regulatory subunit 15B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,130,000...47,137,805
Ensembl chr13:44,577,932...44,585,737
JBrowse link
G Prelp proline and arginine rich end leucine rich repeat protein ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,920,480...47,943,547
Ensembl chr13:45,370,533...45,380,270
JBrowse link
G Ptpn7 protein tyrosine phosphatase, non-receptor type 7 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:49,122,679...49,136,096
Ensembl chr13:46,571,712...46,583,308
JBrowse link
G Rab29 RAB29, member RAS oncogene family ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,859,930...45,865,468
Ensembl chr13:43,307,775...43,313,417
JBrowse link
G Rabif RAB interacting factor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,936,371...45,948,929
Ensembl chr13:45,936,369...45,949,775
JBrowse link
G Rassf5 Ras association domain family member 5 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:42,637,513...42,703,024
Ensembl chr13:42,637,549...42,703,024
JBrowse link
G Rbbp5 RB binding protein 5, histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,464,389...46,494,244
Ensembl chr13:43,912,254...43,939,107
JBrowse link
G Ren renin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,348,312...47,359,539
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G Rnpep arginyl aminopeptidase ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:49,251,259...49,271,440
Ensembl chr13:46,699,463...46,717,998
JBrowse link
G Shisa4 shisa family member 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,799,735...46,803,816
Ensembl chr13:46,799,772...46,803,998
JBrowse link
G Slc26a9 solute carrier family 26 member 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,177,806...43,205,450
Ensembl chr13:43,177,867...43,204,330
JBrowse link
G Slc41a1 solute carrier family 41 member 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,270,792...43,291,162
Ensembl chr13:43,270,792...43,291,162
JBrowse link
G Slc45a3 solute carrier family 45, member 3 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,959,467...45,979,763
Ensembl chr13:43,407,293...43,427,588
JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
Ensembl chr 8:45,050,986...45,057,310
JBrowse link
G Sox13 SRY-box transcription factor 13 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,383,145...47,427,572
Ensembl chr13:44,831,085...44,875,762
JBrowse link
G Srgap2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,298,192...45,519,330
Ensembl chr13:42,745,947...42,967,058
JBrowse link
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:48,639,634...48,749,814
Ensembl chr13:46,185,282...46,193,859
JBrowse link
G Timm17a translocase of inner mitochondrial membrane 17A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:49,282,918...49,296,363
Ensembl chr13:46,730,660...46,742,655
JBrowse link
G Tmcc2 transmembrane and coiled-coil domain family 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,346,177...46,383,862
Ensembl chr13:43,794,029...43,831,716
JBrowse link
G Tmem183a transmembrane protein 183A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:45,803,641...45,820,409
Ensembl chr13:45,803,639...45,820,375
JBrowse link
G Tmem81 transmembrane protein 81 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:43,939,677...43,942,108
Ensembl chr13:43,939,630...43,942,113
JBrowse link
G Tmem9 transmembrane protein 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:50,008,829...50,027,556
Ensembl chr13:47,458,498...47,475,832
JBrowse link
G Tnni1 troponin I1, slow skeletal type ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:49,781,529...49,793,385
Ensembl chr13:47,229,216...47,241,644
JBrowse link
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:49,819,123...49,837,125
Ensembl chr13:47,267,204...47,285,388
JBrowse link
G Ube2t ubiquitin-conjugating enzyme E2T ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:46,403,352...46,413,854
Ensembl chr13:46,403,375...46,414,835
JBrowse link
G Zbed6 zinc finger, BED-type containing 6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,659,269...47,665,540
Ensembl chr13:45,071,718...45,114,009
JBrowse link
G Zc3h11a zinc finger CCCH-type containing 11A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr13:47,625,444...47,665,971
Ensembl chr13:45,071,718...45,114,009
JBrowse link
familial adult myoclonic epilepsy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnrc6a trinucleotide repeat containing adaptor 6A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 1:177,561,898...177,715,669
Ensembl chr 1:177,646,030...177,715,660
JBrowse link
familial adult myoclonic epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rapgef2 Rap guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7 OMIM
ClinVar
PMID:25741868 NCBI chr 2:166,505,868...166,728,139
Ensembl chr 2:164,207,513...164,244,247
JBrowse link
familial encephalopathy with neuroserpin inclusion bodies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies ClinVar PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532 NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
JBrowse link
G Serpinb7 serpin family B member 7 ISO RGD PMID:16782060 RGD:7207386 NCBI chr13:23,884,466...23,956,834
Ensembl chr13:23,395,671...23,442,205
JBrowse link
G Serpini1 serpin family I member 1 ISO
ISS
ClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies
OMIM:604218
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:11138927 PMID:11880376 PMID:12103288 PMID:15090543 More... NCBI chr 2:162,645,209...162,731,737
Ensembl chr 2:160,346,758...160,433,135
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 chr19:50,066,493...50,068,175
Ensembl chr19:33,154,062...33,158,250
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:24888894 PMID:25568300 PMID:25741868 PMID:25951352 PMID:26029160 More... NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:131,982,480...132,151,292
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 OMIM
ClinVar
PMID:1521363 PMID:9536098 PMID:12612585 PMID:15252188 PMID:15505175 More... NCBI chr11:93,702,382...93,716,059
Ensembl chr11:80,198,153...80,211,657
JBrowse link
idiopathic generalized epilepsy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 ClinVar
OMIM
PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 More... NCBI chr10:27,096,731...27,152,563
Ensembl chr10:26,595,160...26,650,864
JBrowse link
idiopathic generalized epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25326635 PMID:25741868 NCBI chr 1:126,123,425...126,249,181
Ensembl chr 1:116,714,711...116,837,240
JBrowse link
G Efhc1 EF-hand domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:30,872,238...30,910,703
Ensembl chr 9:23,375,840...23,414,283
JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25741868 NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
juvenile myoclonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd2 bromodomain containing 2 ISO DNA:SNPs:promoter (human) RGD PMID:12830434 RGD:1358444 NCBI chr20:4,728,282...4,737,286
Ensembl chr20:4,728,151...4,735,388
JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr10:79,851,886...79,919,926
Ensembl chr10:79,355,008...79,422,752
JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD
ClinVar
PMID:10762541 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28492532 NCBI chr 3:57,315,900...57,578,271
Ensembl chr 3:36,910,427...37,168,944
JBrowse link
G Caprin1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:25741868 PMID:35979925 NCBI chr 3:110,606,489...110,685,408
Ensembl chr 3:90,153,620...90,230,502
JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:78,862,286...78,877,353
Ensembl chr 3:58,454,744...58,469,840
JBrowse link
G Efhc1 EF-hand domain containing 1 susceptibility ISO
ISS
ClinVar Annotator: match by term: EJM1 | ClinVar Annotator: match by term: Janz syndrome | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy | ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1
OMIM:254770
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:8737649 PMID:9536098 PMID:12439895 PMID:15258581 PMID:16199547 More... NCBI chr 9:30,872,238...30,910,703
Ensembl chr 9:23,375,840...23,414,283
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD
ClinVar
PMID:26467025 NCBI chr10:27,096,731...27,152,563
Ensembl chr10:26,595,160...26,650,864
JBrowse link
G Hsd17b3 hydroxysteroid (17-beta) dehydrogenase 3 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:25741868 PMID:27899157 PMID:28492532 PMID:33468338 PMID:35432193 More... NCBI chr17:1,032,958...1,064,283
Ensembl chr17:1,027,229...1,058,554
JBrowse link
G Jrk Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 7:108,479,646...108,484,329
Ensembl chr 7:106,589,484...106,596,371
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 susceptibility ISO ClinVar Annotator: match by term: CILK1-related condition ClinVar
OMIM
PMID:25741868 PMID:28492532 NCBI chr 8:87,868,294...87,922,995
Ensembl chr 8:78,984,258...79,042,691
JBrowse link
Lafora disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epm2a EPM2A glucan phosphatase, laforin ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lafora disease
OMIM:254780
CTD
ClinVar
MouseDO
PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 More... NCBI chr 1:7,547,369...7,673,449
Ensembl chr 1:5,727,066...5,920,555
JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISS
ISO
OMIM:254780
ClinVar Annotator: match by term: Epilepsy progressive myoclonic 2 | ClinVar Annotator: match by term: Lafora disease
MouseDO
ClinVar
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16021330 More... NCBI chr17:17,674,303...17,677,144
Ensembl chr17:17,674,319...17,677,148
JBrowse link
G Tpmt thiopurine S-methyltransferase ISO ClinVar Annotator: match by term: Lafora disease ClinVar PMID:15781812 PMID:17389303 PMID:23317923 PMID:28492532 NCBI chr17:17,850,308...17,868,976
Ensembl chr17:17,644,173...17,662,709
JBrowse link
MERRF Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: MERRF syndrome ClinVar PMID:15767514 PMID:16816025 PMID:17400793 PMID:18332249 PMID:25741868 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
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 chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
JBrowse link
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,450,207...148,763,653
Ensembl chr 4:146,896,332...147,140,665
JBrowse link
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,306,436...148,321,668
Ensembl chr 4:146,750,821...146,768,856
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar NCBI chr 1:136,597,993...136,726,874
Ensembl chr 1:127,190,059...127,300,502
JBrowse link
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: myoclonic epilepsy ClinVar PMID:28492532 NCBI chr15:44,517,862...44,534,144
Ensembl chr15:40,342,317...40,358,601
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Myoclonus epilepsy ClinVar PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 More... NCBI chr20:10,245,157...10,247,199
Ensembl chr20:10,245,462...10,247,526
JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Myoclonus epilepsy ClinVar PMID:9771710 PMID:9931343 PMID:11175283 PMID:12019207 PMID:14532330 More... NCBI chr 1:7,547,369...7,673,449
Ensembl chr 1:5,727,066...5,920,555
JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,234,633...148,299,035
Ensembl chr 4:146,679,179...146,743,412
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:146,865,712...146,869,621
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Myoclonus epilepsy ClinVar PMID:16199547 PMID:21549339 PMID:25326637 PMID:25741868 PMID:26467025 More... NCBI chr10:89,085,323...89,105,665
Ensembl chr10:88,586,299...88,605,625
JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Myoclonic absence seizure ClinVar PMID:25741868 PMID:28492532 NCBI chr13:92,609,791...92,618,580
Ensembl chr13:90,074,181...90,086,588
JBrowse link
G Irak2 interleukin-1 receptor-associated kinase 2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,341,704...148,398,211
Ensembl chr 4:146,786,100...146,842,602
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Myoclonic absence seizure ClinVar PMID:25741868 PMID:26477325 PMID:28492532 PMID:28806457 PMID:29264397 More... NCBI chr 3:176,239,285...176,332,408
Ensembl chr 3:155,822,963...155,916,194
JBrowse link
G Lmnb2 lamin B2 ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:28492532 NCBI chr 7:8,792,628...8,808,665
Ensembl chr 7:8,789,314...8,808,665
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO DNA:missense mutation: :m.14487T>C (p.M63V) (human) RGD PMID:20019223 RGD:6482231 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17275665 NCBI chr10:48,294,932...48,324,941
Ensembl chr10:47,795,709...47,825,714
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:6088243 NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Myoclonus epilepsy | ClinVar Annotator: match by term: myoclonic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 4:126,426,767...126,771,986
Ensembl chr 4:124,869,552...125,214,824
JBrowse link
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:25741868 PMID:33085104 NCBI chr19:51,020,596...51,071,401
Ensembl chr19:34,110,747...34,162,577
JBrowse link
G Rapgef2 Rap guanine nucleotide exchange factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chr 2:166,505,868...166,728,139
Ensembl chr 2:164,207,513...164,244,247
JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chr 7:86,658,709...86,953,879
Ensembl chr 7:84,768,254...85,271,766
JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Myoclonus epilepsy ClinVar PMID:18308289 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28492532 More... NCBI chr14:15,842,583...15,894,123
Ensembl chr14:15,558,236...15,609,813
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myoclonic encephalopathy | ClinVar Annotator: match by term: myoclonic epilepsy
CTD
ClinVar
PMID:12907273 PMID:17347258 PMID:19099883 PMID:21480876 PMID:28492532 More... NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Sec13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,877,739...146,891,130
Ensembl chr 4:146,875,524...146,891,173
JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25741868 NCBI chr 9:1,038,103...1,055,063
Ensembl chr 9:950,939...961,521
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25741868 NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416
JBrowse link
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy | ClinVar Annotator: match by term: Myoclonus epilepsy ClinVar PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More... NCBI chr 4:149,004,447...149,037,840
Ensembl chr 4:147,466,965...147,482,293
JBrowse link
G Slc6a11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,853,557...148,968,895
Ensembl chr 4:147,297,969...147,413,443
JBrowse link
G Slc7a6os solute carrier family 7, member 6 opposite strand ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:25741868 PMID:33085104 NCBI chr19:34,101,978...34,110,666
Ensembl chr19:34,101,982...34,110,651
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:136,755,780...136,958,081
Ensembl chr 5:131,470,348...131,670,810
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18469812 PMID:29929108 NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Tatdn2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,400,454...148,416,501
Ensembl chr 4:146,845,156...146,860,897
JBrowse link
G Tnrc6a trinucleotide repeat containing adaptor 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chr 1:177,561,898...177,715,669
Ensembl chr 1:177,646,030...177,715,660
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377
JBrowse link
Myoclonic Epilepsy of Lafora 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: EPM2A-related condition | ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1 OMIM
ClinVar
PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11739371 More... NCBI chr 1:7,547,369...7,673,449
Ensembl chr 1:5,727,066...5,920,555
JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1 ClinVar PMID:25741868 NCBI chr17:17,674,303...17,677,144
Ensembl chr17:17,674,319...17,677,148
JBrowse link
Myoclonic Epilepsy of Lafora 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b | ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 2 OMIM
ClinVar
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16134145 More... NCBI chr17:17,674,303...17,677,144
Ensembl chr17:17,674,319...17,677,148
JBrowse link
Myoclonic Epilepsy, Familial Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr10:13,757,884...13,783,669
Ensembl chr10:13,253,380...13,279,101
JBrowse link
G Nubpl NUBP iron-sulfur cluster assembly factor like ISO ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy ClinVar PMID:20818383 PMID:22072591 PMID:23553477 PMID:23828044 PMID:25326637 More... NCBI chr 6:75,294,609...75,516,603
Ensembl chr 6:69,559,291...69,781,253
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy
DNA:mutation:cds:c.751T>C(p.F251L)(human)
DNA:mutation:cds:c.457G>A (p.E153K)(human)
OMIM
ClinVar
RGD
PMID:10574461 PMID:10741954 PMID:18414213 PMID:20727515 PMID:20797691 More... RGD:11537393, RGD:11537392 NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,209,895...13,236,050
JBrowse link
myoclonic-atonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc4 actin related protein 2/3 complex, subunit 4 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,077,799...148,088,427
Ensembl chr 4:146,522,176...146,532,785
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,450,207...148,763,653
Ensembl chr 4:146,896,332...147,140,665
JBrowse link
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,306,436...148,321,668
Ensembl chr 4:146,750,821...146,768,856
JBrowse link
G Brpf1 bromodomain and PHD finger containing, 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,011,977...148,028,431
Ensembl chr 4:146,456,318...146,472,649
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 More... NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Camk1 calcium/calmodulin-dependent protein kinase I ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,036,843...148,047,675
Ensembl chr 4:146,481,196...146,492,081
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:14,753,594...14,772,745
Ensembl chr  X:14,753,696...14,772,743
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset ClinVar PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 More... NCBI chr 1:136,597,993...136,726,874
Ensembl chr 1:127,190,059...127,300,502
JBrowse link
G Cidec cell death-inducing DFFA-like effector c ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,124,924...148,137,806
Ensembl chr 4:146,569,289...146,582,173
JBrowse link
G Cpne9 copine family member 9 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,429,961...146,454,335
Ensembl chr 4:146,430,792...146,454,333
JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,187,510...148,197,120
Ensembl chr 4:146,631,883...146,641,499
JBrowse link
G Dnm1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chr 3:36,002,535...36,055,220
Ensembl chr 3:15,604,784...15,648,538
JBrowse link
G Emc3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,218,686...148,234,595
Ensembl chr 4:146,663,067...146,679,029
JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,234,633...148,299,035
Ensembl chr 4:146,679,179...146,743,412
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
JBrowse link
G Fgf12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 More... NCBI chr11:85,501,947...86,069,543
Ensembl chr11:71,997,099...72,562,607
JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 IEP protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:152,284,857...152,322,686
Ensembl chr  X:147,240,301...147,278,050
JBrowse link
G Ghrl ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:146,865,712...146,869,621
JBrowse link
G Il17rc interleukin 17 receptor C ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,174,573...148,187,071
Ensembl chr 4:146,619,004...146,631,442
JBrowse link
G Il17re interleukin 17 receptor E ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,604,547...146,618,206
Ensembl chr 4:146,605,526...146,618,206
JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584
JBrowse link
G Irak2 interleukin-1 receptor-associated kinase 2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,341,704...148,398,211
Ensembl chr 4:146,786,100...146,842,602
JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,147,213...148,151,915
Ensembl chr 4:146,591,510...146,596,288
JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar NCBI chr12:27,663,177...27,697,085
Ensembl chr12:22,026,672...22,060,606
JBrowse link
G Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:147,942,604...147,985,649
Ensembl chr 4:146,386,956...146,429,990
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:250,040,250...250,194,364
Ensembl chr 1:240,093,065...240,204,828
JBrowse link
G Praf2 PRA1 domain family, member 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:14,773,398...14,776,035
Ensembl chr  X:14,773,420...14,775,909
JBrowse link
G Prrt3 proline-rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,641,173...146,650,487
Ensembl chr 4:146,641,173...146,650,317
JBrowse link
G Ralgapa1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chr 6:78,712,554...78,987,486
Ensembl chr 6:72,977,432...73,252,378
JBrowse link
G Rbfox1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr10:8,658,809...10,754,648
Ensembl chr10:8,152,198...9,686,659
JBrowse link
G Rpusd3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,553,743...146,562,789
Ensembl chr 4:146,558,562...146,562,794
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More... NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:50,952,791...51,071,699
JBrowse link
G Scn1b sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:19442771 PMID:19710327 PMID:23456818 PMID:25741868 PMID:28218389 More... NCBI chr 1:95,481,298...95,491,211
Ensembl chr 1:86,353,917...86,363,739
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood ClinVar PMID:25741868 NCBI chr 3:70,710,862...70,845,569
Ensembl chr 3:50,302,877...50,437,214
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:133,860,901...134,034,809
Ensembl chr 7:131,982,480...132,151,292
JBrowse link
G Sec13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:146,877,739...146,891,130
Ensembl chr 4:146,875,524...146,891,173
JBrowse link
G Slc13a5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More... NCBI chr10:57,364,806...57,389,500
Ensembl chr10:56,866,249...56,890,945
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: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
OMIM
ClinVar
PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More... NCBI chr 4:149,004,447...149,037,840
Ensembl chr 4:147,466,965...147,482,293
JBrowse link
G Slc6a11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,853,557...148,968,895
Ensembl chr 4:147,297,969...147,413,443
JBrowse link
G Srgap2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr13:45,298,192...45,519,330
Ensembl chr13:42,745,947...42,967,058
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 More... NCBI chr 3:36,474,428...36,536,120
Ensembl chr 3:16,076,391...16,138,369
JBrowse link
G Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,065,859...148,077,347
Ensembl chr 4:146,510,246...146,521,590
JBrowse link
G Tatdn2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,400,454...148,416,501
Ensembl chr 4:146,845,156...146,860,897
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) RGD PMID:23526554 RGD:11537471 NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,209,895...13,236,050
JBrowse link
G Ttll3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,088,575...148,113,526
Ensembl chr 4:146,533,953...146,557,889
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:14,776,280...14,782,202
Ensembl chr  X:14,776,293...14,782,202
JBrowse link
Neonatal Intractable Myoclonus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: KIF5A-related intractable neonatal myoclonus | ClinVar Annotator: match by term: Myoclonus, intractable, neonatal ClinVar
OMIM
PMID:18500496 PMID:18853458 PMID:21623771 PMID:22552817 PMID:22714410 More... NCBI chr 7:64,937,210...64,974,339
Ensembl chr 7:63,049,424...63,092,858
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:25741868 PMID:36001086 NCBI chr10:55,662,956...55,664,574
Ensembl chr10:55,164,326...55,166,533
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 chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome ClinVar NCBI chr 1:185,861,326...185,915,717
Ensembl chr 1:176,430,103...176,484,451
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 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535
JBrowse link
Progressive Myoclonic Epilepsy 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b ClinVar PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16311711 More... NCBI chr17:17,674,303...17,677,144
Ensembl chr17:17,674,319...17,677,148
JBrowse link
progressive myoclonus epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,128,056...9,184,312
Ensembl chr20:9,126,687...9,182,948
JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,222,171...11,350,416
Ensembl chr20:11,222,583...11,350,852
JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr18:63,224,163...63,269,000
Ensembl chr18:60,954,268...60,999,110
JBrowse link
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,330,650...10,415,026
Ensembl chr20:10,384,507...10,415,358
JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,635,775...10,650,709
Ensembl chr20:10,636,123...10,651,060
JBrowse link
G Art3 ADP-ribosyltransferase 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,921,540...16,003,764
Ensembl chr14:15,637,237...15,665,407
JBrowse link
G Atn1 atrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10814707 NCBI chr 4:159,240,573...159,254,378
Ensembl chr 4:157,551,276...157,568,132
JBrowse link
G C20h21orf58 similar to human chromosome 21 open reading frame 58 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,165,853...12,187,271
Ensembl chr20:12,175,442...12,187,017
JBrowse link
G C2cd2 C2 calcium-dependent domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr11:50,694,680...50,759,096
Ensembl chr11:37,227,415...37,289,739
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,709,394...9,733,925
Ensembl chr20:9,708,090...9,732,764
JBrowse link
G Ccdc158 coiled-coil domain containing 158 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,411,178...15,468,579
Ensembl chr14:15,411,163...15,468,581
JBrowse link
G Cdkl2 cyclin dependent kinase like 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:16,027,381...16,063,257
Ensembl chr14:16,028,363...16,063,252
JBrowse link
G Cers1 ceramide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,687,506...10,694,366
Ensembl chr20:10,687,863...10,694,737
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:136,597,993...136,726,874
Ensembl chr 1:127,190,059...127,300,502
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:26544041 More... NCBI chr 1:190,586,649...190,600,034
Ensembl chr 1:181,156,073...181,167,434
JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:18414213 PMID:24767253 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:86,308,286...86,321,679
Ensembl chr15:79,893,548...79,903,438
Ensembl chr 2:79,893,548...79,903,438
JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive
CTD
ClinVar
PMID:25401298 PMID:25741868 NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,473,645...11,582,111
Ensembl chr20:11,474,104...11,582,593
JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,905,690...11,924,111
Ensembl chr20:11,905,957...11,924,597
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,767...12,057,564
JBrowse link
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,784,872...9,788,656
Ensembl chr20:9,783,605...9,787,349
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chr20:10,245,157...10,247,199
Ensembl chr20:10,245,462...10,247,526
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,989,066...15,991,263
Ensembl chr14:15,704,758...15,706,975
JBrowse link
G Cxcl11 C-X-C motif chemokine ligand 11 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,973,728...15,976,503
Ensembl chr14:15,689,424...15,692,271
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:16,007,166...16,012,077
Ensembl chr14:15,722,908...15,728,435
JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:188,999,508...189,033,455
Ensembl chr 3:168,621,969...168,655,935
JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,614,591...10,628,989
Ensembl chr20:10,614,934...10,629,516
JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9536098 PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 More... RGD:9685621 NCBI chr 1:7,547,369...7,673,449
Ensembl chr 1:5,727,066...5,920,555
JBrowse link
G Fam47e family with sequence similarity 47, member E ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,485,537...15,521,599
Ensembl chr14:15,485,127...15,521,775
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:18414213 PMID:24767253 PMID:25741868 PMID:28492532 NCBI chr15:86,321,504...86,341,387
Ensembl chr15:79,906,795...79,927,867
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,055,208...12,068,735
JBrowse link
G G3bp2 G3BP stress granule assembly factor 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,932,403...16,020,555
Ensembl chr14:15,987,417...16,020,548
JBrowse link
G Gatd3a glutamine amidotransferase class 1 domain containing 3A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,514,459...10,522,556
Ensembl chr20:10,514,744...10,522,885
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19057520 PMID:21549339 More... NCBI chr10:89,085,323...89,105,665
Ensembl chr10:88,586,299...88,605,625
JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,035,263...10,121,262
Ensembl chr20:10,035,562...10,121,242
JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,600,078...10,610,385
Ensembl chr20:10,600,420...10,610,703
JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,061,009...11,097,242
Ensembl chr20:11,061,430...11,097,600
JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 1:96,902,953...96,944,744
Ensembl chr 1:96,902,953...96,944,744
JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar NCBI chr12:32,157,141...32,168,463
Ensembl chr12:26,523,142...26,532,138
JBrowse link
G Krtap10-1 keratin associated protein 10-1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,880,182...10,881,054
Ensembl chr20:10,880,573...10,881,445
Ensembl chr20:10,880,573...10,881,445
JBrowse link
G Krtap10-10 keratin associated protein 10-10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,854,561...10,863,972 JBrowse link
G Krtap10-2 keratin associated protein 10-2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,888,197...10,888,995 JBrowse link
G Krtap10-8 keratin associated protein 10-8 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,871,601...10,872,434
Ensembl chr20:10,871,991...10,872,844
JBrowse link
G Krtap10-9 keratin associated protein 10-9 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,939,204...10,940,121
Ensembl chr20:10,939,609...10,940,526
Ensembl chr20:10,939,609...10,940,526
JBrowse link
G Krtap12-1 keratin associated protein 12-1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,916,943...10,917,552 JBrowse link
G Krtap12-2 keratin associated protein 12-2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,904,025...10,904,354 JBrowse link
G Krtap12-4 keratin associated protein 12-4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,909,953...10,910,285 JBrowse link
G Lmnb2 lamin B2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:8,792,628...8,808,665
Ensembl chr 7:8,789,314...8,808,665
JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,758,399...10,763,358
Ensembl chr20:10,758,955...10,762,067
JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,090,641...12,118,230
Ensembl chr20:12,092,774...12,118,762
JBrowse link
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,127,060...12,164,651
Ensembl chr20:12,127,570...12,165,165
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:28492532 NCBI chr 2:125,749,994...125,784,689
Ensembl chr 2:123,816,614...123,857,971
JBrowse link
G Naaa N-acylethanolamine acid amidase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,777,306...15,796,411
Ensembl chr14:15,777,306...15,796,410
JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,613,786...9,622,941
Ensembl chr20:9,612,431...9,623,074
Ensembl chr13:9,612,431...9,623,074
JBrowse link
G Neu1 neuraminidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr20:3,902,120...3,906,383
Ensembl chr20:3,897,480...3,901,745
JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr17:17,674,303...17,677,144
Ensembl chr17:17,674,319...17,677,148
JBrowse link
G Nup54 nucleoporin 54 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,901,936...15,920,335
Ensembl chr14:15,617,679...15,636,028
JBrowse link
G Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:16,356,104...16,364,420
Ensembl chr14:16,073,058...16,080,129
JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:12379221 PMID:22318854 RGD:724387, RGD:6480499 NCBI chr17:78,118,847...78,169,543
Ensembl chr17:73,209,575...73,260,251
JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,635,579...11,877,721
Ensembl chr20:11,678,269...11,878,210
JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,189,767...12,278,179
Ensembl chr20:12,191,648...12,278,710
JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,471,136...9,564,286
Ensembl chr20:9,469,848...9,562,948
JBrowse link
G Pfkl phosphofructokinase, liver type ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,663,907...10,685,967
Ensembl chr20:10,664,272...10,686,315
JBrowse link
G Pknox1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,664,120...9,706,328
Ensembl chr20:9,662,899...9,703,727
JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,366,636...11,378,252
Ensembl chr20:11,367,096...11,377,743
JBrowse link
G Ppef2 protein phosphatase with EF-hand domain 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:16,081,706...16,115,903
Ensembl chr14:15,797,435...15,831,491
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:9425237 PMID:9664077 PMID:9733046 PMID:10649502 PMID:10679943 More... NCBI chr 5:140,406,318...140,427,201
Ensembl chr 5:135,121,163...135,142,048
JBrowse link
G Prdm15 PR/SET domain 15 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr11:50,633,973...50,691,624
Ensembl chr11:37,165,575...37,222,207
JBrowse link
G Prdm8 PR/SET domain 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:11,403,202...11,424,059
Ensembl chr14:11,404,407...11,410,993
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 PMID:18414213 PMID:20301774 PMID:21901791 PMID:24689077 PMID:25741868 More... NCBI chr 7:126,518,587...126,614,581
Ensembl chr 7:124,639,142...124,658,113
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:21276947 PMID:23711981 PMID:25741868 PMID:26467025 PMID:26942291 More... NCBI chr 4:126,426,767...126,771,986
Ensembl chr 4:124,869,552...125,214,824
JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 3:139,639,076...139,654,420
Ensembl chr 3:119,177,485...119,203,937
JBrowse link
G Pttg1ip PTTG1 interacting protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,029,608...11,047,395
Ensembl chr20:11,030,015...11,047,316
JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,498,998...10,512,631
Ensembl chr20:10,499,363...10,513,640
JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr11:50,591,926...50,614,169
Ensembl chr11:37,122,565...37,144,799
JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,260,580...10,271,829
Ensembl chr20:10,260,870...10,272,144
JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,122,825...10,148,404
Ensembl chr20:10,123,125...10,147,928
JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,343,258...9,361,988
Ensembl chr20:9,341,913...9,360,640
JBrowse link
G Sacs sacsin molecular chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr15:39,461,853...39,546,419
Ensembl chr15:35,285,782...35,370,335
JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISS
ISO
OMIM:254900 | OMIM:310370 | OMIM:611726 | OMIM:612437 | OMIM:614018
ClinVar Annotator: match by term: Familial progressive myoclonic epilepsy | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | 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
MouseDO
ClinVar
PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 More... NCBI chr14:15,842,583...15,894,123
Ensembl chr14:15,558,236...15,609,813
JBrowse link
G Sdad1 SDA1 domain containing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,741,489...15,768,271
Ensembl chr14:15,741,434...15,771,066
JBrowse link
G Serpini1 serpin family I member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 2:162,645,209...162,731,737
Ensembl chr 2:160,346,758...160,433,135
JBrowse link
G Shroom3 shroom family member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,099,415...15,396,832
Ensembl chr14:15,099,423...15,396,915
JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,947,104...9,958,729
Ensembl chr20:9,947,396...9,958,991
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,584,411...11,601,972
JBrowse link
G Slc37a1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,361,733...9,435,227
Ensembl chr20:9,378,836...9,433,892
JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,114,214...11,147,112
Ensembl chr20:11,114,589...11,147,521
JBrowse link
G Spatc1l spermatogenesis and centriole associated 1-like ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,073,542...12,082,866
Ensembl chr20:12,074,047...12,083,301
JBrowse link
G Stbd1 starch binding domain 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,754,769...15,758,174
Ensembl chr14:15,469,582...15,477,443
JBrowse link
G Sumo3 small ubiquitin-like modifier 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,009,730...11,020,502
Ensembl chr20:11,007,148...11,020,877
Ensembl chr20:11,007,148...11,020,877
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,209,895...13,236,050
JBrowse link
G Tff1 trefoil factor 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,237,095...9,240,956
Ensembl chr20:9,235,736...9,239,597
JBrowse link
G Tff2 trefoil factor 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,217,110...9,220,979
Ensembl chr20:9,215,761...9,219,619
JBrowse link
G Tff3 trefoil factor 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,194,623...9,199,333
Ensembl chr20:9,193,262...9,198,054
JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,253,497...9,275,167
Ensembl chr20:9,254,109...9,274,363
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 1:169,509,816...169,515,939
Ensembl chr 1:160,096,833...160,104,129
JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,438,404...10,498,740
Ensembl chr20:10,438,737...10,499,074
JBrowse link
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,703,190...10,752,795
Ensembl chr20:10,707,014...10,753,181
JBrowse link
G Tsc1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17484760 NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:11,979,729...12,015,674
JBrowse link
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,771,365...10,944,285
Ensembl chr20:10,772,219...10,943,914
JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,744,206...9,755,146
Ensembl chr20:9,742,905...9,753,832
JBrowse link
G Ubash3a ubiquitin associated and SH3 domain containing, A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,292,819...9,336,036
Ensembl chr20:9,292,139...9,329,224
JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,983,322...11,005,060
Ensembl chr20:10,983,742...11,005,447
JBrowse link
G Umodl1 uromodulin-like 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,029,025...9,088,510
Ensembl chr20:9,025,724...9,087,146
JBrowse link
G Uso1 USO1 vesicle transport factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:16,150,921...16,216,389
Ensembl chr14:15,866,638...15,932,171
JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,588,532...9,604,718
Ensembl chr20:9,587,207...9,603,581
JBrowse link
G Wnt3 Wnt family member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:21549339 PMID:28492532 NCBI chr10:89,180,224...89,224,195
Ensembl chr10:88,680,248...88,724,099
JBrowse link
G Wnt9b Wnt family member 9B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:21549339 PMID:28492532 NCBI chr10:89,135,362...89,157,065
Ensembl chr10:88,635,331...88,657,035
JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,164,678...12,175,150
Ensembl chr20:12,165,237...12,174,713
JBrowse link
G Zbtb21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr11:50,781,697...50,796,399
Ensembl chr11:37,312,378...37,326,996
JBrowse link
progressive myoclonus epilepsy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Early-onset Lafora body disease ClinVar PMID:28492532 NCBI chr14:11,845,774...11,986,166
Ensembl chr14:11,541,772...11,682,094
JBrowse link
G Prdm8 PR/SET domain 8 ISO ClinVar Annotator: match by term: Early-onset Lafora body disease | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10 OMIM
ClinVar
PMID:22961547 PMID:25741868 PMID:28492532 NCBI chr14:11,403,202...11,424,059
Ensembl chr14:11,404,407...11,410,993
JBrowse link
Progressive Myoclonus Epilepsy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 11 | ClinVar Annotator: match by term: SEMA6B-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:32169168 PMID:35604360 NCBI chr 9:1,038,103...1,055,063
Ensembl chr 9:950,939...961,521
JBrowse link
Progressive Myoclonus Epilepsy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 ClinVar PMID:25741868 PMID:33085104 NCBI chr19:51,020,596...51,071,401
Ensembl chr19:34,110,747...34,162,577
JBrowse link
G Slc7a6os solute carrier family 7, member 6 opposite strand ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 OMIM
ClinVar
PMID:25741868 PMID:33085104 NCBI chr19:34,101,978...34,110,666
Ensembl chr19:34,101,982...34,110,651
JBrowse link
progressive myoclonus epilepsy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cstb cystatin B ISO OMIM NCBI chr20:10,245,157...10,247,199
Ensembl chr20:10,245,462...10,247,526
JBrowse link
progressive myoclonus epilepsy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prickle1 prickle planar cell polarity protein 1 ISO
ISS
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B | ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia
OMIM:612437
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18976727 PMID:20301774 More... NCBI chr 7:126,518,587...126,614,581
Ensembl chr 7:124,639,142...124,658,113
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B ClinVar PMID:25401298 PMID:25741868 PMID:27281533 PMID:28492532 PMID:30335140 NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,209,895...13,236,050
JBrowse link
progressive myoclonus epilepsy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:190,586,649...190,600,034
Ensembl chr 1:181,156,073...181,167,434
JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS
ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 3, with intracellular inclusions
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17455289 PMID:17576681 PMID:18414213 More... NCBI chr12:32,157,141...32,168,463
Ensembl chr12:26,523,142...26,532,138
JBrowse link
progressive myoclonus epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnh8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome ClinVar PMID:25741868 NCBI chr 9:5,742,683...6,182,445
Ensembl chr 9:5,506,044...5,945,828
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome ClinVar PMID:25741868 NCBI chr 3:188,778,329...188,842,877
Ensembl chr 3:168,419,579...168,465,348
JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 4, with or without renal failure | ClinVar Annotator: match by term: SCARB2-related condition OMIM
ClinVar
PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 More... NCBI chr14:15,842,583...15,894,123
Ensembl chr14:15,558,236...15,609,813
JBrowse link
progressive myoclonus epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5
ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 ClinVar PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 More... NCBI chr 4:126,426,767...126,771,986
Ensembl chr 4:124,869,552...125,214,824
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 ClinVar PMID:21689831 PMID:25741868 PMID:28492532 NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:243,868,330...243,874,802
JBrowse link
progressive myoclonus epilepsy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: GOSR2-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 OMIM
ClinVar
PMID:16199547 PMID:19057520 PMID:21549339 PMID:23449775 PMID:24458321 More... NCBI chr10:89,085,323...89,105,665
Ensembl chr10:88,586,299...88,605,625
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 1:107,664,338...107,682,916
Ensembl chr 1:98,528,068...98,546,653
JBrowse link
G Gtf2h1 general transcription factor IIH subunit 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,321,417...97,349,455
Ensembl chr 1:97,321,394...97,349,455
JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:106,417,902...106,457,220
Ensembl chr 1:97,247,598...97,321,019
JBrowse link
G Igsf22 immunoglobulin superfamily member 22 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,601,938...97,618,144 JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: KCNC1-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25363768 PMID:25401298 PMID:25741868 More... NCBI chr 1:96,902,953...96,944,744
Ensembl chr 1:96,902,953...96,944,744
JBrowse link
G Ldha lactate dehydrogenase A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:106,508,092...106,517,512
Ensembl chr 1:97,366,021...97,433,472
JBrowse link
G Ldhc lactate dehydrogenase C ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:106,522,140...106,539,649
Ensembl chr 1:97,382,379...97,403,378
JBrowse link
G Mrgprb2 MAS-related GPR, member B2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:98,401,140...98,403,162
Ensembl chr 1:98,401,538...98,415,284
JBrowse link
G Mrgprx1 MAS related GPR family member X1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,806,099...97,807,070
Ensembl chr 1:97,806,099...97,807,112
JBrowse link
G Mrgprx2 MAS related GPR family member X2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:98,116,192...98,135,534 JBrowse link
G Mrgprx3 MAS related GPR family member X3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,720,377...97,746,953
Ensembl chr 1:97,721,436...97,746,900
JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:105,882,747...105,951,825
Ensembl chr 1:96,746,336...96,815,415
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 1:106,756,896...106,817,369
Ensembl chr 1:97,620,642...97,679,882
JBrowse link
G Saa4 serum amyloid A4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,247,580...97,251,882 JBrowse link
G Saal1 serum amyloid A-like 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,198,685...97,218,131
Ensembl chr 1:97,198,800...97,222,156
JBrowse link
G Sergef secretion regulating guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:96,949,660...97,152,529
Ensembl chr 1:96,949,661...97,152,496
JBrowse link
G Spty2d1 SPT2 chromatin protein domain containing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,531,495...97,549,616
Ensembl chr 1:97,531,508...97,549,581
JBrowse link
G Tmem86a transmembrane protein 86A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:106,732,168...106,736,518
Ensembl chr 1:97,595,842...97,600,260
JBrowse link
G Tph1 tryptophan hydroxylase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344
JBrowse link
G Tsg101 tumor susceptibility 101 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:106,549,035...106,578,859
Ensembl chr 1:97,410,848...97,442,554
JBrowse link
G Uevld UEV and lactate/malate dehydrogenase domains ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,454,188...97,486,004
Ensembl chr 1:97,453,946...97,486,000
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 1:105,831,719...105,880,082
Ensembl chr 1:96,695,307...96,743,671
JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:98,487,319...98,525,906
Ensembl chr 1:98,487,358...98,525,905
JBrowse link
progressive myoclonus epilepsy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc6 armadillo repeat containing 6 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,225,058...19,235,479
Ensembl chr16:19,191,093...19,206,047
JBrowse link
G Borcs8 BLOC-1 related complex subunit 8 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,274,305...19,280,969
Ensembl chr16:19,274,023...19,280,339
JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19243074 PMID:24033266 More... NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
JBrowse link
G Comp cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845
JBrowse link
G Cope COPI coat complex subunit epsilon ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,114,871...19,125,076
Ensembl chr16:19,114,871...19,128,907
JBrowse link
G Ddx49 DEAD-box helicase 49 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,159,353...19,167,003
Ensembl chr16:19,125,384...19,133,616
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19243074 PMID:24033266 More... NCBI chr16:19,131,271...19,146,480
Ensembl chr16:19,097,314...19,112,519
JBrowse link
G Homer3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,166,141...19,176,701
Ensembl chr16:19,132,162...19,142,680
JBrowse link
G Mef2b myocyte enhancer factor 2B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,253,008...19,269,514
Ensembl chr16:19,253,010...19,268,967
JBrowse link
G Nr2c2ap nuclear receptor 2C2-associated protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,288,454...19,290,940
Ensembl chr16:19,288,454...19,290,719
JBrowse link
G Rfxank regulatory factor X-associated ankyrin-containing protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,314,307...19,322,827
Ensembl chr16:19,281,475...19,460,255
JBrowse link
G Slc25a42 solute carrier family 25, member 42 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,213,914...19,251,990
Ensembl chr16:19,213,950...19,237,025
JBrowse link
G Sugp2 SURP and G patch domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,193,910...19,225,364
Ensembl chr16:19,164,767...19,191,340
JBrowse link
G Tmem161a transmembrane protein 161A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,272,433...19,282,173
Ensembl chr16:19,238,487...19,248,087
JBrowse link
G Upf1 UPF1, RNA helicase and ATPase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,076,594...19,097,365
Ensembl chr16:19,076,322...19,096,568
JBrowse link
progressive myoclonus epilepsy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd17a abhydrolase domain containing 17A, depalmitoylase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,775,016...9,781,447
Ensembl chr 7:9,124,332...9,130,762
JBrowse link
G Adamtsl5 ADAMTS-like 5 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:10,013,306...10,021,924
Ensembl chr 7:9,363,237...9,370,285
JBrowse link
G Adat3 adenosine deaminase, tRNA-specific 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,109,070...9,113,673
Ensembl chr 7:9,101,187...9,115,340
JBrowse link
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,557,451...9,559,867
Ensembl chr 7:8,906,836...8,909,282
JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,620,909...9,656,350
Ensembl chr 7:8,970,291...9,005,643
JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:10,043,010...10,065,037
Ensembl chr 7:9,392,336...9,414,310
JBrowse link
G Atp8b3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,175,544...9,195,449
Ensembl chr 7:9,175,391...9,195,442
JBrowse link
G Btbd2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,058,609...9,075,341
Ensembl chr 7:9,060,788...9,075,344
JBrowse link
G C7h19orf25 similar to human chromosome 19 open reading frame 25 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,390,255...9,392,383 JBrowse link
G Csnk1g2 casein kinase 1, gamma 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,727,430...9,746,341
Ensembl chr 7:9,076,740...9,095,052
JBrowse link
G Diras1 DIRAS family GTPase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,687,964...8,692,828
Ensembl chr 7:8,687,942...8,693,831
JBrowse link
G Dot1l DOT1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,918,764...8,959,474
Ensembl chr 7:8,917,786...8,956,475
JBrowse link
G Gadd45b growth arrest and DNA-damage-inducible, beta ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,428,689...9,430,991
Ensembl chr 7:8,778,007...8,780,046
JBrowse link
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812
JBrowse link
G Gng7 G protein subunit gamma 7 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,348,148...9,411,924
Ensembl chr 7:8,697,521...8,761,240
JBrowse link
G Izumo4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,007,276...9,010,428
Ensembl chr 7:9,007,280...9,010,032
JBrowse link
G Klf16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,789,185...9,799,004
Ensembl chr 7:9,138,503...9,148,317
JBrowse link
G Lingo3 leucine rich repeat and Ig domain containing 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,869,025...8,878,431
Ensembl chr 7:8,869,025...8,878,431
JBrowse link
G Lmnb2 lamin B2 susceptibility ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar
OMIM
PMID:9536098 PMID:16826530 PMID:17576681 PMID:22768673 PMID:22995991 More... NCBI chr 7:8,792,628...8,808,665
Ensembl chr 7:8,789,314...8,808,665
JBrowse link
G Lsm7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,856,698...8,859,113
Ensembl chr 7:8,856,489...8,859,119
JBrowse link
G Mbd3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,312,961...9,320,166
Ensembl chr 7:9,313,098...9,320,165
JBrowse link
G Mex3d mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,325,575...9,332,705
Ensembl chr 7:9,325,488...9,332,096
JBrowse link
G Mknk2 MAPK interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,690,385...9,701,527
Ensembl chr 7:9,039,728...9,050,827
JBrowse link
G Mob3a MOB kinase activator 3A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,010,490...9,027,888
Ensembl chr 7:9,010,587...9,027,879
JBrowse link
G Oaz1 ornithine decarboxylase antizyme 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,534,530...9,536,990
Ensembl chr 7:8,883,851...8,886,310
JBrowse link
G Onecut3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,199,997...9,219,303
Ensembl chr 7:9,200,035...9,219,158
Ensembl chr 7:9,200,035...9,219,158
JBrowse link
G Pcsk4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,381,366...9,389,589
Ensembl chr 7:9,381,361...9,389,585
JBrowse link
G Plekhj1 pleckstrin homology domain containing J1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,566,200...9,570,993 JBrowse link
G Plk5 polo-like kinase 5 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,997,453...10,006,959
Ensembl chr 7:9,346,777...9,355,196
JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:10,024,601...10,031,507
Ensembl chr 7:9,373,927...9,380,597
JBrowse link
G Rexo1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,804,740...9,824,717
Ensembl chr 7:9,154,061...9,173,454
JBrowse link
G Scamp4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,101,504...9,113,929
Ensembl chr 7:9,101,489...9,113,967
JBrowse link
G Sf3a2 splicing factor 3A subunit 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,909,507...8,916,104
Ensembl chr 7:8,909,507...8,915,530
JBrowse link
G Sgta small glutamine rich tetratricopeptide repeat co-chaperone alpha ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,653,681...8,670,460
Ensembl chr 7:8,653,778...8,670,458
JBrowse link
G Slc39a3 solute carrier family 39 member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,676,845...8,682,846
Ensembl chr 7:8,676,759...8,685,149
JBrowse link
G Sppl2b signal peptide peptidase-like 2B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,843,918...8,856,642
Ensembl chr 7:8,843,918...8,856,608
JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,931,251...9,952,994
Ensembl chr 7:9,280,571...9,302,314
JBrowse link
G Thop1 thimet oligopeptidase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,283,617...9,295,957
Ensembl chr 7:8,632,916...8,645,275
JBrowse link
G Timm13 translocase of inner mitochondrial membrane 13 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,809,069...8,810,172
Ensembl chr 7:8,809,058...8,809,910
JBrowse link
G Tle2 TLE family member 2, transcriptional corepressor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,769,815...8,789,493
Ensembl chr 7:8,119,053...8,134,306
JBrowse link
G Tle5 TLE family member 5, transcriptional modulator ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,794,123...8,801,056
Ensembl chr 7:8,143,357...8,150,113
JBrowse link
G Tle6 TLE family member 6, subcortical maternal complex member ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,757,846...8,769,405
Ensembl chr 7:8,107,207...8,118,639
JBrowse link
G Tmprss9 transmembrane serine protease 9 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,810,321...8,831,177
Ensembl chr 7:8,810,320...8,831,177
JBrowse link
G Uqcr11 ubiquinol-cytochrome c reductase, complex III subunit XI ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,955,717...9,960,432
Ensembl chr 7:9,305,058...9,309,750
JBrowse link
G Zfp77 zinc finger protein 77 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:7,269,879...7,316,286
Ensembl chr 7:7,269,927...7,286,051
JBrowse link
spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY | ClinVar Annotator: match by term: Spinal muscular atrophy with progressive myoclonic epilepsy OMIM
ClinVar
PMID:16199547 PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 More... NCBI chr16:57,669,927...57,701,349
Ensembl chr16:50,966,229...51,008,233
JBrowse link
Unverricht-Lundborg syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cstb cystatin B ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
CTD
ClinVar
MouseDO
OMIM
PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chr20:10,245,157...10,247,199
Ensembl chr20:10,245,462...10,247,526
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    Pathological Conditions, Signs and Symptoms 13627
      Signs and Symptoms 11216
        Neurologic Manifestations 10451
          Dyskinesias 2232
            Myoclonus 408
              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 + 402
              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 19142
    disease of anatomical entity 18455
      nervous system disease 14362
        central nervous system disease 12636
          brain disease 11856
            movement disease 2632
              Dyskinesias 2232
                Myoclonus 408
                  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 + 402
                  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