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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: OMIM:PS614937
For additional species annotation, visit the Alliance of Genome Resources.


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Myoclonus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Myoclonic jerks ClinVar PMID:30311386 NCBI chr 8:130,812,941...130,931,021
Ensembl chr 8:130,813,214...130,930,990
JBrowse link
G Glra1 glycine receptor, alpha 1 ISO ClinVar Annotator: match by term: Sleep myoclonus ClinVar PMID:1334371 PMID:7518444 PMID:7611730 PMID:7881416 PMID:7981700 PMID:8298642 PMID:8733061 PMID:25741868 PMID:28122427 PMID:28138086 PMID:28492532 PMID:28617419 NCBI chr10:40,851,955...40,954,364
Ensembl chr10:40,855,559...40,953,651
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19559301 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Nos3 nitric oxide synthase 3 ISO ClinVar Annotator: match by term: Myoclonic jerks ClinVar PMID:30311386 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Myoclonic jerks ClinVar PMID:10521290 PMID:11349231 PMID:16126423 PMID:19744920 PMID:21245028 PMID:23146215 PMID:26981555 PMID:30311386 NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Myoclonic jerks ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 PMID:30311386 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO OMIM NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755
JBrowse link
Dravet syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 ISO ClinVar Annotator: match by term: Dravet syndrome ClinVar NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Dravet syndrome
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
OMIM
PMID:1868258 PMID:1893099 PMID:9126059 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12566275 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15263074 PMID:15277629 PMID:15508915 PMID:15508916 PMID:15880351 PMID:16430863 PMID:16458823 PMID:16505326 PMID:16541393 PMID:16713913 PMID:16713920 PMID:17000989 PMID:17054684 PMID:17054685 PMID:17166794 PMID:17347258 PMID:17561957 PMID:17903680 PMID:18021921 PMID:18031552 PMID:18056581 PMID:18076640 PMID:18413471 PMID:18414213 PMID:18554359 PMID:18680191 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19359143 PMID:19400878 PMID:19522081 PMID:19563458 PMID:19585586 PMID:19589774 PMID:19673951 PMID:19782004 PMID:19809937 PMID:20100831 PMID:20110217 PMID:20301494 PMID:20431604 PMID:20452746 PMID:20491869 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20729507 PMID:20831750 PMID:20879882 PMID:21248271 PMID:21269283 PMID:21371021 PMID:21396429 PMID:21425109 PMID:21463290 PMID:21555645 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21753172 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22050978 PMID:22071555 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22719002 PMID:22780858 PMID:22848613 PMID:23086956 PMID:23195492 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23762420 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23934111 PMID:24066114 PMID:24097157 PMID:24136861 PMID:24168886 PMID:24328833 PMID:24679980 PMID:24776920 PMID:24836964 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25669891 PMID:25741868 PMID:25741869 PMID:25818041 PMID:25885068 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26467025 PMID:26544041 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27113213 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27781031 PMID:27864847 PMID:28079314 PMID:28102150 PMID:28148630 PMID:28192756 PMID:28202706 PMID:28492532 PMID:28544625 PMID:28708303 PMID:29100083 PMID:29141279 PMID:29358611 PMID:29460957 PMID:29760947 PMID:29852413 PMID:30146492 PMID:30311386 PMID:30321769 PMID:30525188 PMID:30619928 PMID:30659983 PMID:31102827 PMID:31791873 PMID:32238909 PMID:32488064 PMID:32581362 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Dravet syndrome
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar PMID:21698661 PMID:23895530 PMID:25250524 PMID:25741868 PMID:26467025 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29264398 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Snx27 sorting nexin 27 ISO ClinVar Annotator: match by term: Dravet syndrome ClinVar PMID:28492532 NCBI chr 2:195,738,613...195,821,608
Ensembl chr 2:195,738,619...195,821,608
JBrowse link
early infantile epileptic encephalopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a22 solute carrier family 25 member 22 ISO OMIM NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
JBrowse link
early myoclonic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jmjd1c jumonji domain containing 1C ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:22495311 PMID:26181491 PMID:28492532 NCBI chr20:22,751,743...22,914,080
Ensembl chr20:22,751,743...22,882,672
JBrowse link
G Kcnd2 potassium voltage-gated channel subfamily D member 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:24501278 PMID:28492532 PMID:29581270 NCBI chr 4:48,309,283...48,816,804 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 PMID:9126059 PMID:10521305 PMID:10742094 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:12086636 PMID:12610651 PMID:12821740 PMID:14702334 PMID:14738421 PMID:15508915 PMID:15880351 PMID:16430863 PMID:16541393 PMID:17054684 PMID:17347258 PMID:17561957 PMID:18021921 PMID:18056581 PMID:18413471 PMID:18414213 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19359143 PMID:19400878 PMID:19522081 PMID:19589774 PMID:19782004 PMID:20431604 PMID:20522430 PMID:20729507 PMID:20879882 PMID:21248271 PMID:21269283 PMID:21396429 PMID:21463290 PMID:21713554 PMID:21906962 PMID:22150645 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22719002 PMID:22780858 PMID:23195492 PMID:23398611 PMID:23884151 PMID:24066114 PMID:24097157 PMID:24136861 PMID:24168886 PMID:24836964 PMID:25741868 PMID:26096185 PMID:26467025 PMID:26544041 PMID:26845707 PMID:26990884 PMID:27236449 PMID:27864847 PMID:28192756 PMID:28492532 PMID:29100083 PMID:29358611 PMID:30311386 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25741868 PMID:26467025 PMID:27843123 PMID:28492532 NCBI chr 1:214,410,388...214,418,236
Ensembl chr 1:214,410,417...214,414,897
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:24033266 PMID:25741868 PMID:25769375 PMID:26371875 PMID:27281533 PMID:28292732 PMID:28428906 PMID:28492532 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
familial adult myoclonic epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1 OMIM
ClinVar
PMID:29507423 PMID:29939203 NCBI chr 7:92,995,599...93,286,757
Ensembl chr 7:92,993,330...93,502,591
JBrowse link
familial adult myoclonic epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stard7 StAR-related lipid transfer domain containing 7 ISO OMIM NCBI chr 3:119,698,655...119,727,303
Ensembl chr 3:119,698,652...119,727,347
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 OMIM NCBI chr 2:84,533,546...84,608,743
Ensembl chr 2:84,536,669...84,608,712
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 OMIM NCBI chr11:84,330,064...84,595,296
Ensembl chr11:84,330,064...84,583,542
JBrowse link
familial adult myoclonic epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntn2 contactin 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
ClinVar Annotator: match by OMIM:615400
OMIM
ClinVar
PMID:23518707 PMID:25741868 PMID:28492532 NCBI chr13:49,280,913...49,314,061
Ensembl chr13:49,285,310...49,313,940
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 ClinVar
OMIM
PMID:29507423 NCBI chr 1:192,991,584...193,146,403
Ensembl chr 1:193,076,430...193,146,394
JBrowse link
familial adult myoclonic epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rapgef2 Rap guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7 ClinVar
OMIM
PMID:25741868 PMID:29507423 NCBI chr 2:177,836,191...178,057,378
Ensembl chr 2:177,836,202...178,057,157
JBrowse link
familial encephalopathy with neuroserpin inclusion bodies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Encephalopathy, familial, with neuroserpin inclusion bodies ClinVar PMID:28492532 NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
JBrowse link
G Serpinb7 serpin family B member 7 ISO RGD PMID:16782060 RGD:7207386 NCBI chr13:27,282,456...27,354,775
Ensembl chr13:27,312,498...27,354,052
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Encephalopathy, familial, with neuroserpin inclusion bodies
ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies
ClinVar Annotator: match by OMIM:604218
OMIM
ClinVar
PMID:11138927 PMID:11880376 PMID:12103288 PMID:15090543 PMID:18591508 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
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 OMIM:614937 OMIM
ClinVar
PMID:22926851 NCBI chr19:37,232,567...37,236,668
Ensembl chr19:37,235,001...37,236,649
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:29726066 NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
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, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
ClinVar
OMIM
PMID:12612585 PMID:15252188 PMID:15505175 PMID:16932951 PMID:17567819 PMID:19191339 PMID:19710712 PMID:21703448 PMID:25741868 NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
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
OMIM
PMID:9126483 PMID:11992121 PMID:16530959 PMID:16569738 PMID:16718694 PMID:18414213 PMID:18534981 PMID:20551311 PMID:21714819 PMID:22190369 PMID:23934111 PMID:24623842 PMID:24811917 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
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 7 ClinVar PMID:25326635 PMID:25741868 NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
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 chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426
Ensembl chr20:3,910,555...3,917,426
JBrowse link
G Cacna1g calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr10:82,129,071...82,197,828
Ensembl chr10:82,129,506...82,197,848
JBrowse link
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD
ClinVar
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:37,950,846...38,211,478
Ensembl chr 3:37,955,069...38,090,526
JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:28492532 NCBI chr 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
JBrowse link
G Efhc1 EF-hand domain containing 1 susceptibility ISO ClinVar Annotator: match by OMIM:254770
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myoclonic epilepsy, juvenile 1
ClinVar
CTD
OMIM
PMID:8737649 PMID:12439895 PMID:15258581 PMID:16839746 PMID:17054699 PMID:17159113 PMID:17634063 PMID:18414213 PMID:18823326 PMID:20981092 PMID:22226147 PMID:22690745 PMID:22926142 PMID:23527921 PMID:24033266 PMID:24965021 PMID:25108116 PMID:25326635 PMID:25489633 PMID:25625532 PMID:25741868 PMID:26467025 PMID:27467453 PMID:28370826 PMID:28492532 NCBI chr 9:27,068,505...27,107,713
Ensembl chr 9:27,068,443...27,107,709
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
JBrowse link
G Jrk Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 7:115,941,788...115,946,471
Ensembl chr 7:115,942,743...115,946,425
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 OMIM NCBI chr 8:85,413,998...85,473,374
Ensembl chr 8:85,413,537...85,472,694
JBrowse link
Lafora disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Lafora disease
ClinVar Annotator: match by OMIM:254780
OMIM
ClinVar
PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 PMID:11739371 PMID:12019207 PMID:14706656 PMID:14722920 PMID:16021330 PMID:16134145 PMID:17010495 PMID:17389303 PMID:21623095 PMID:25246353 PMID:25544560 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512
JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Lafora disease
ClinVar Annotator: match by OMIM:254780
OMIM
ClinVar
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16021330 PMID:16134145 PMID:16190947 PMID:16311711 PMID:16529633 PMID:16950819 PMID:17952067 PMID:18029386 PMID:18256682 PMID:18263761 PMID:18311786 PMID:18414213 PMID:19322595 PMID:19744044 PMID:20301563 PMID:20738377 PMID:21505799 PMID:22047982 PMID:22815132 PMID:23806086 PMID:25270369 PMID:25667860 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28556688 PMID:29588937 PMID:29899791 PMID:30701169 NCBI chr17:18,059,382...18,060,572
Ensembl chr17:18,059,382...18,060,572
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 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Myoclonus with epilepsy with ragged red fibers ClinVar PMID:15767514 PMID:16816025 PMID:17400793 PMID:18332249 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 Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: myoclonic epilepsy ClinVar NCBI chr15:42,808,897...42,825,179
Ensembl chr15:42,808,897...42,825,179
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 chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:6088243 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
G Rapgef2 Rap guanine nucleotide exchange factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chr 2:177,836,191...178,057,378
Ensembl chr 2:177,836,202...178,057,157
JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chr 7:92,995,599...93,286,757
Ensembl chr 7:92,993,330...93,502,591
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: myoclonic epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12907273 PMID:19099883 PMID:21480876 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18469812 NCBI chr 3:11,823,779...11,885,479
Ensembl chr 3:11,823,785...11,885,417
JBrowse link
G Tnrc6a trinucleotide repeat containing adaptor 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chr 1:192,991,584...193,146,403
Ensembl chr 1:193,076,430...193,146,394
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: Myoclonic epilepsy, familial infantile ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611 NCBI chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Myoclonic epilepsy, familial infantile
ClinVar Annotator: match by term: Myoclonic epilepsy, infantile, familial
DNA:mutation:cds:c.457G>A (p.E153K)(human)
OMIM
ClinVar
PMID:10574461 PMID:10741954 PMID:18414213 PMID:20727515 PMID:20797691 PMID:22277662 PMID:24033266 PMID:24291220 PMID:24848745 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:29358611 PMID:29671961 PMID:30311386 PMID:30335140, PMID:25769375 RGD:11537392 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
Myoclonic-Atonic Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy OMIM
ClinVar
PMID:9623887 PMID:12451126 PMID:18414213 PMID:22495306 PMID:23020937 PMID:24859339 PMID:25741868 PMID:25865495 PMID:26467025 PMID:26716362 PMID:27541642 PMID:28492532 PMID:28708303 PMID:28856709 PMID:29315614 PMID:32581362 NCBI chr 4:146,258,842...146,292,176
Ensembl chr 4:146,276,862...146,292,213
JBrowse link
Neonatal Intractable Myoclonus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: MYOCLONUS, INTRACTABLE, NEONATAL
ClinVar Annotator: match by term: Myoclonus, intractable, neonatal
ClinVar
OMIM
PMID:24215330 PMID:25741868 PMID:27414745 PMID:27463701 NCBI chr 7:70,515,832...70,552,897
Ensembl chr 7:70,513,343...70,556,827
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 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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 null
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 2b
ClinVar PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16134145 PMID:16311711 PMID:16529633 PMID:16950819 PMID:18029386 PMID:18256682 PMID:18263761 PMID:18311786 PMID:19744044 PMID:20301563 PMID:20738377 PMID:21505799 PMID:22815132 PMID:25741868 PMID:28492532 PMID:28556688 NCBI chr17:18,059,382...18,060,572
Ensembl chr17:18,059,382...18,060,572
JBrowse link
progressive myoclonus epilepsy 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: Myoclonic epilepsy, progressive ClinVar PMID:10090474 PMID:10888601 PMID:10958654 PMID:18524658 PMID:20127976 PMID:22180458 PMID:25741868 PMID:28492532 NCBI chr 7:122,157,201...122,192,328
Ensembl chr 7:122,157,201...122,192,328
JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510
JBrowse link
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:11,060,584...11,144,806
Ensembl chr20:11,114,164...11,144,806
JBrowse link
G Atn1 atrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10814707 NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755
JBrowse link
G Cers1 ceramide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive ClinVar PMID:25741868 PMID:26467025 PMID:27843123 PMID:28041643 PMID:28492532 PMID:28542676 NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive ClinVar PMID:18414213 PMID:24767253 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:93,634,815...93,644,146 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 NCBI chr 8:67,733,215...67,748,170
Ensembl chr 8:67,733,215...67,748,172
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
ClinVar PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 PMID:12058102 PMID:15483648 PMID:17003839 PMID:17158032 PMID:17920138 PMID:18325013 PMID:21757863 PMID:22154554 PMID:23205931 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28378817 PMID:28492532 PMID:32581362 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:177,012,714...177,047,787
Ensembl chr 3:177,013,604...177,043,902
JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO 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, X-linked
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 PMID:12019207 PMID:14706656 PMID:14722920 PMID:16021330 PMID:16134145 PMID:16311711 PMID:17010495 PMID:17389303 PMID:17509003 PMID:18029386 PMID:18311786 PMID:18414213 PMID:19403557 PMID:20738377 PMID:21623095 PMID:25246353 PMID:25401298 PMID:25544560 PMID:25741868 PMID:26467025 PMID:26493215 PMID:28492532 PMID:28800070 PMID:28934672, PMID:9771710 RGD:9685621 NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive ClinVar PMID:18414213 PMID:24767253 PMID:25741868 PMID:28492532 NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
JBrowse link
G Gatd3a glutamine amidotransferase like class 1 domain containing 3A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:11,244,353...11,252,450
Ensembl chr20:11,244,353...11,252,449
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19057520 PMID:21549339 PMID:23449775 PMID:24458321 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28982678 NCBI chr10:91,735,772...91,756,123
Ensembl chr10:91,736,780...91,756,081
JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:10,757,172...10,844,177
Ensembl chr20:10,757,854...10,844,178
JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411
JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar NCBI chr12:30,024,080...30,033,357
Ensembl chr12:30,024,081...30,033,357
JBrowse link
G Lmnb2 lamin B2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:11,657,870...11,676,936
Ensembl chr 7:11,660,934...11,675,472
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003
JBrowse link
G Neu1 neuraminidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr20:4,610,995...4,615,258
Ensembl chr20:4,610,995...4,615,247
JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr17:18,059,382...18,060,572
Ensembl chr17:18,059,382...18,060,572
JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:12379221, PMID:22318854 RGD:724387, RGD:6480499 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Myoclonic epilepsy, progressive ClinVar PMID:18204299 PMID:18440262 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
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 PMID:11440996 PMID:11506414 PMID:17261688 PMID:19793312 PMID:21228398 PMID:21990111 PMID:23539563 PMID:23772246 PMID:24082928 PMID:25205113 PMID:25525159 PMID:25574475 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:140,538,260...140,558,163
Ensembl chr 5:140,538,260...140,558,162
JBrowse link
G Prdm8 PR/SET domain 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:13,052,776...13,073,583
Ensembl chr14:13,054,771...13,058,172
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Progressive myoclonic epilepsy, X-linked
ClinVar PMID:21276947 PMID:23711981 PMID:25741868 PMID:26467025 PMID:26942291 PMID:26942292 PMID:28492532 PMID:29358611 NCBI chr 4:124,238,167...124,584,176
Ensembl chr 4:124,238,167...124,338,176
JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:11,228,892...11,243,204
Ensembl chr20:11,228,844...11,243,205
JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:10,982,016...10,993,260
Ensembl chr20:10,981,998...10,993,280
JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:10,844,234...10,869,830
Ensembl chr20:10,844,266...10,869,821
JBrowse link
G Sacs sacsin molecular chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO
ISS
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
OMIM:254900 | OMIM:310370 | OMIM:611726 | OMIM:612437 | OMIM:614018
ClinVar
MouseDO
PMID:18308289 PMID:19847901 PMID:21670406 PMID:23515316 PMID:23659519 PMID:25088547 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28222800 PMID:28492532 PMID:29261713 PMID:29358611 NCBI chr14:17,064,173...17,115,620
Ensembl chr14:17,064,353...17,115,963
JBrowse link
G Serpini1 serpin family I member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:10,670,747...10,680,279
Ensembl chr20:10,668,411...10,680,283
JBrowse link
G Slc7a6os solute carrier family 7, member 6 opposite strand ISO ClinVar Annotator: match by term: Myoclonic epilepsy, progressive ClinVar PMID:25741868 NCBI chr19:38,180,859...38,189,523
Ensembl chr19:38,180,861...38,189,523
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Myoclonic epilepsy, progressive ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
G Tpp1 tripeptidyl peptidase 1 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 1:170,588,036...170,594,159
Ensembl chr 1:170,588,035...170,594,168
JBrowse link
G Trappc10 trafficking protein particle complex 10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625
JBrowse link
G Tsc1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17484760 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
progressive myoclonus epilepsy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm8 PR/SET domain 8 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10 OMIM
ClinVar
PMID:22961547 PMID:28492532 NCBI chr14:13,052,776...13,073,583
Ensembl chr14:13,054,771...13,058,172
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 OMIM
ClinVar
PMID:32169168 NCBI chr 9:10,934,273...10,951,252
Ensembl chr 9:10,941,613...10,951,252
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 chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
progressive myoclonus epilepsy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia
ClinVar Annotator: match by OMIM:612437
ClinVar
OMIM
PMID:18414213 PMID:18976727 PMID:20301774 PMID:21276947 PMID:21901791 PMID:24689077 PMID:25741868 PMID:26378787 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29790814 PMID:30564977 PMID:32214227 NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia ClinVar PMID:25741868 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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: Epilepsy, progressive myoclonic 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 3
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 3, with intracellular inclusions
ClinVar Annotator: match by OMIM:611726
OMIM
ClinVar
PMID:2274208 PMID:15778103 PMID:17455289 PMID:18414213 PMID:19084560 PMID:21710140 PMID:22606975 PMID:22638565 PMID:22693283 PMID:22748208 PMID:25060828 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26795593 PMID:27742667 PMID:28492532 PMID:29056246 PMID:30295347 PMID:30500434 PMID:32581362 NCBI chr12:30,024,080...30,033,357
Ensembl chr12:30,024,081...30,033,357
JBrowse link
progressive myoclonus epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 4, with or without renal failure
ClinVar Annotator: match by OMIM:254900
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:15364701 PMID:18308289 PMID:18424452 PMID:19454373 PMID:19597094 PMID:19847901 PMID:21670406 PMID:21796727 PMID:22032306 PMID:22767442 PMID:23225201 PMID:23515316 PMID:23659519 PMID:24339182 PMID:24485911 PMID:24620919 PMID:25088547 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28492532 PMID:29261713 PMID:29358611 NCBI chr14:17,064,173...17,115,620
Ensembl chr14:17,064,353...17,115,963
JBrowse link
progressive myoclonus epilepsy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 6 ClinVar PMID:23861362 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 6 OMIM
ClinVar
PMID:21549339 PMID:23449775 PMID:24458321 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28982678 NCBI chr10:91,735,772...91,756,123
Ensembl chr10:91,736,780...91,756,081
JBrowse link
progressive myoclonus epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 OMIM
ClinVar
PMID:25401298 PMID:25741868 PMID:26467025 PMID:27629860 PMID:28145425 PMID:28380698 PMID:28492532 PMID:31353855 PMID:31353862 NCBI chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411
JBrowse link
progressive myoclonus epilepsy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by OMIM:616230
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 8
ClinVar
OMIM
PMID:19243074 PMID:24782409 PMID:25741868 PMID:28492532 PMID:28991257 PMID:30311386 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 8 ClinVar PMID:19243074 PMID:24782409 PMID:25741868 PMID:28492532 PMID:28991257 PMID:30311386 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
JBrowse link
progressive myoclonus epilepsy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb2 lamin B2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 9 ClinVar
OMIM
PMID:16826530 PMID:22995991 PMID:25741868 PMID:25954030 PMID:26467025 PMID:27535533 PMID:28492532 NCBI chr 7:11,657,870...11,676,936
Ensembl chr 7:11,660,934...11,675,472
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: Jankovic Rivera syndrome
ClinVar Annotator: match by OMIM:159950
OMIM
ClinVar
PMID:22703880 PMID:24164096 PMID:24355074 PMID:25326635 PMID:25741868 PMID:25847462 PMID:26526000 PMID:28492532 PMID:29358611 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
JBrowse link
Unverricht-Lundborg syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cstb cystatin B ISO ClinVar Annotator: match by OMIM:254800
ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:7543407 PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 PMID:11814737 PMID:12058102 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17003839 PMID:17158032 PMID:18028412 PMID:18325013 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22154554 PMID:22936898 PMID:23205931 PMID:25288807 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28378817 PMID:28492532 PMID:29358611 PMID:32581362 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Pathological Conditions, Signs and Symptoms 8761
      Signs and Symptoms 5268
        Neurologic Manifestations 4215
          Dyskinesias 869
            Myoclonus 90
              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 + 82
              Myoclonic Nystagmus 0
              Myoclonus, Cerebellar Ataxia, and Deafness 0
              Neonatal Intractable Myoclonus 1
              Opsoclonus-Myoclonus Syndrome + 1
              Progressive External Ophthalmoplegia with Myoclonus 0
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        central nervous system disease 9050
          brain disease 8375
            movement disease 1158
              Dyskinesias 869
                Myoclonus 90
                  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 + 82
                  Myoclonic Nystagmus 0
                  Myoclonus, Cerebellar Ataxia, and Deafness 0
                  Neonatal Intractable Myoclonus 1
                  Opsoclonus-Myoclonus Syndrome + 1
                  Progressive External Ophthalmoplegia with Myoclonus 0
paths to the root