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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:Myoclonic Epilepsies
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Accession:DOID:9005154 term browser browse the term
Definition:A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).
Synonyms:exact_synonym: Cryptogenic Myoclonic Epilepsy;   Epileptic seizures, myoclonic;   Idiopathic Myoclonic Epilepsies;   Idiopathic Myoclonic Epilepsy;   Myoclonic Absence Epilepsies;   Myoclonic Absence Epilepsy;   Myoclonic Astatic Epilepsies;   Myoclonic Astatic Epilepsy;   Myoclonic Encephalopathies;   Myoclonic Encephalopathy;   Myoclonic Epilepsy;   Myoclonic Seizure Disorder;   Myoclonic Seizure Disorders;   Myoclonic seizure;   Myoclonic seizure disorder;   Myoclonus Epilepsies;   Myoclonus Epilepsy;   cryptogenic myoclonic epilepsies;   myoclonia epileptica;   myoclonic epilepsy;   symptomatic myoclonic epilepsies;   symptomatic myoclonic epilepsy
 primary_id: MESH:D004831
 alt_id: OMIA:002095
For additional species annotation, visit the Alliance of Genome Resources.


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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
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:25326637, 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: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: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
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 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, infantile, familial
DNA:mutation:cds:c.457G>A (p.E153K)(human)
ClinVar Annotator: match by term: Myoclonic epilepsy, familial infantile
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
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 carbamoyltransferase 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:25326637, 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            epilepsy 1528
              Myoclonic Epilepsies 82
                Ataxia with Myoclonic Epilepsy and Presenile Dementia 0
                Congenital Deafness and Familial Myoclonic Epilepsy 0
                Dravet syndrome 4
                Feigenbaum Bergeron Richardson Syndrome 0
                Hydroxylysinuria 0
                Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 0
                Myoclonic Epilepsy, Familial Infantile 2
                Myoclonic Epilepsy, Hartung Type 0
                Myoclonic-Atonic Epilepsy 1
                Photoparoxysmal Response 3 0
                Spastic Paraplegia with Myoclonic Epilepsy 0
                early myoclonic encephalopathy + 5
                familial adult myoclonic epilepsy + 7
                familial encephalopathy with neuroserpin inclusion bodies 3
                juvenile myoclonic epilepsy + 10
                progressive myoclonus epilepsy + 49
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            movement disease 1158
              Dyskinesias 869
                Myoclonus 90
                  Myoclonic Epilepsies 82
                    Ataxia with Myoclonic Epilepsy and Presenile Dementia 0
                    Congenital Deafness and Familial Myoclonic Epilepsy 0
                    Dravet syndrome 4
                    Feigenbaum Bergeron Richardson Syndrome 0
                    Hydroxylysinuria 0
                    Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 0
                    Myoclonic Epilepsy, Familial Infantile 2
                    Myoclonic Epilepsy, Hartung Type 0
                    Myoclonic-Atonic Epilepsy 1
                    Photoparoxysmal Response 3 0
                    Spastic Paraplegia with Myoclonic Epilepsy 0
                    early myoclonic encephalopathy + 5
                    familial adult myoclonic epilepsy + 7
                    familial encephalopathy with neuroserpin inclusion bodies 3
                    juvenile myoclonic epilepsy + 10
                    progressive myoclonus epilepsy + 49
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.