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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:variable age at onset electroclinical syndrome
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Accession:DOID:0050706 term browser browse the term
Definition:An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration. (DO)
Synonyms:primary_id: RDO:9002709
 alt_id: RDO:9002465


show annotations for term's descendants           Sort by:
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 5:63,782,159...63,795,648
Ensembl chr 5:63,782,162...63,795,648 		JBrowse link
Lafora disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXO30 F-box protein 30 ISO ClinVar Annotator: match by term: Lafora disease ClinVar PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 More... NCBI chr 1:19,806,363...19,893,350
Ensembl chr 1:19,806,765...19,893,339 		JBrowse link
G NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Epilepsy progressive myoclonic 2 | ClinVar Annotator: match by term: Lafora disease ClinVar PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16021330 More... NCBI chr 7:13,816,243...13,817,644
Ensembl chr 7:13,816,246...13,817,644 		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 chr 7:13,821,656...13,846,107
Ensembl chr 7:13,820,866...13,846,012 		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 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119 		JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
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:12,935...14,755
Ensembl chr MT:12,935...14,755 		JBrowse link
Myoclonic Epilepsy of Lafora 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXO30 F-box protein 30 ISO ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1 OMIM
ClinVar		 PMID:25741905 NCBI chr 1:19,806,363...19,893,350
Ensembl chr 1:19,806,765...19,893,339 		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: LAFORA DISEASE 2 OMIM
ClinVar		 PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16134145 More... NCBI chr 7:13,816,243...13,817,644
Ensembl chr 7:13,816,246...13,817,644 		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:16134145 More... NCBI chr 7:13,816,243...13,817,644
Ensembl chr 7:13,816,246...13,817,644 		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 chr13:205,561,897...205,628,428
Ensembl chr13:205,561,951...205,628,425 		JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,746,915...207,791,809
Ensembl chr13:207,691,174...207,791,802 		JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 6:97,200,890...97,234,577
Ensembl chr 6:97,200,922...97,235,366 		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 chr13:206,803,219...206,906,363
Ensembl chr13:206,884,538...206,906,353 		JBrowse link
G AIRE autoimmune regulator ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,148,401...207,158,355
Ensembl chr13:207,148,401...207,158,532 		JBrowse link
G ART3 ADP-ribosyltransferase 3 (inactive) ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,673,799...71,795,332
Ensembl chr 8:71,758,034...71,795,343 		JBrowse link
G ATN1 atrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10814707 NCBI chr 5:63,782,159...63,795,648
Ensembl chr 5:63,782,162...63,795,648 		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 chr13:205,248,991...205,313,868
Ensembl chr13:205,246,716...205,313,717 		JBrowse link
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248 		JBrowse link
G CCDC158 coiled-coil domain containing 158 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,990,113...72,088,966
Ensembl chr 8:71,990,119...72,088,829 		JBrowse link
G CDKL2 cyclin dependent kinase like 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,231,148...71,260,902
Ensembl chr 8:71,231,152...71,260,815 		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 chr13:207,196,884...207,204,741
Ensembl chr13:207,196,117...207,204,719 		JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:85,980,759...86,107,886
Ensembl chr 7:85,983,837...86,106,938 		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:27843123 More... NCBI chr 3:18,433,564...18,450,296
Ensembl chr 3:18,433,836...18,450,290 		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 chr11:49,105,822...49,128,425
Ensembl chr11:49,105,878...49,129,886 		JBrowse link
G CLN6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar NCBI chr 1:166,107,895...166,126,054
Ensembl chr 1:166,107,228...166,126,808 		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 chr13:207,907,835...207,984,082
Ensembl chr13:207,940,948...207,982,938 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532
G CRYAA crystallin alpha A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,293,877...206,297,050
Ensembl chr13:206,293,849...206,297,015 		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 chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646 		JBrowse link
G CUNH21orf58 chromosome unknown C21orf58 homolog ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532
G CXCL10 C-X-C motif chemokine ligand 10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948 		JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,713,790...71,725,669
Ensembl chr 8:71,713,803...71,725,674 		JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271 		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 chr17:62,754,630...62,780,470
Ensembl chr17:62,754,802...62,780,468 		JBrowse link
G DNMT3L DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,119,025...207,141,990
Ensembl chr13:207,119,051...207,132,538 		JBrowse link
G FAM47E family with sequence similarity 47 member E ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,940,297...71,965,843
Ensembl chr 8:71,940,299...71,961,432 		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 chr11:49,131,663...49,151,380
Ensembl chr11:49,131,665...49,151,009 		JBrowse link
G FBXO30 F-box protein 30 ISO ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:9536098 PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 More... NCBI chr 1:19,806,363...19,893,350
Ensembl chr 1:19,806,765...19,893,339 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532
G G3BP2 G3BP stress granule assembly factor 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,273,125...71,363,474
Ensembl chr 8:71,273,126...71,363,410 		JBrowse link
G GATD3 glutamine amidotransferase class 1 domain containing 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,042,929...207,051,814
Ensembl chr13:207,042,952...207,056,770 		JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19057520 PMID:21549339 More... NCBI chr12:17,768,082...17,799,313
Ensembl chr12:17,768,111...17,789,315 		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 chr13:206,545,353...206,629,151
Ensembl chr13:206,545,354...206,629,156 		JBrowse link
G ICOSLG inducible T cell costimulator ligand ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,106,202...207,115,886 JBrowse link
G ITGB2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107 		JBrowse link
G KCNC1 potassium voltage-gated channel subfamily C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 2:41,362,208...41,407,935
Ensembl chr 2:41,362,347...41,408,127 		JBrowse link
G KCTD7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar NCBI chr 3:16,382,333...16,393,861
Ensembl chr 3:16,385,006...16,393,841 		JBrowse link
G LMNB2 lamin B2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:76,125,932...76,146,564
Ensembl chr 2:76,125,927...76,146,558 		JBrowse link
G LOC100518807 keratin-associated protein 10-12 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:204,987,662...204,988,803 JBrowse link
G LOC100622826 keratin-associated protein 10-3-like ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,403,140...207,404,529 JBrowse link
G LOC100623720 collagen alpha-1(VI) chain ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,451...208,313,127 		JBrowse link
G LOC106508044 keratin-associated protein 12-1-like ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,393,361...207,394,154 JBrowse link
G LRRC3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,270,099...207,275,901
Ensembl chr13:207,271,416...207,272,189 		JBrowse link
G LSS lanosterol synthase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532
G MCM3AP minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532
G MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:28492532 NCBI chr 8:96,925,063...96,972,390
Ensembl chr 8:96,925,081...96,972,383 		JBrowse link
G NAAA N-acylethanolamine acid amidase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,573,783...71,603,256
Ensembl chr 8:71,573,788...71,603,338 		JBrowse link
G NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,111,337...206,123,987 JBrowse link
G NEU1 neuraminidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 7:23,953,721...23,958,659
Ensembl chr 7:23,947,061...23,958,666 		JBrowse link
G NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 7:13,816,243...13,817,644
Ensembl chr 7:13,816,246...13,817,644 		JBrowse link
G NUP54 nucleoporin 54 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,792,153...71,833,180
Ensembl chr 8:71,792,155...71,833,157 		JBrowse link
G ODAPH odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,215,091...71,225,787
Ensembl chr 8:71,215,152...71,226,319 		JBrowse link
G OPTN optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,843...48,582,860 		JBrowse link
G PCBP3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:208,060,949...208,259,368
Ensembl chr13:208,094,877...208,259,369 		JBrowse link
G PCNT pericentrin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532
G PDE9A phosphodiesterase 9A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,938,342...206,034,981
Ensembl chr13:205,938,348...206,034,976 		JBrowse link
G PDXK pyridoxal kinase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,676,905...206,699,047
Ensembl chr13:206,676,730...206,703,326 		JBrowse link
G PFKL phosphofructokinase, liver type ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,167,287...207,191,688
Ensembl chr13:207,167,281...207,191,671 		JBrowse link
G PKNOX1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,159,264...206,195,471
Ensembl chr13:206,167,156...206,195,468 		JBrowse link
G POFUT2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,801,101...207,818,138 JBrowse link
G PPEF2 protein phosphatase with EF-hand domain 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,519,873...71,555,977
Ensembl chr 8:71,519,274...71,573,563 		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 6:95,840,906...95,860,858
Ensembl chr 6:95,840,908...95,860,858 		JBrowse link
G PRDM15 PR/SET domain 15 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,174,356...205,241,562
Ensembl chr13:205,173,517...205,241,490 		JBrowse link
G PRDM8 PR/SET domain 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:137,604,805...137,611,389
Ensembl chr 8:137,605,600...137,612,651 		JBrowse link
G PRICKLE1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:18414213 PMID:21901791 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 5:73,707,026...73,826,529
Ensembl chr 5:73,707,050...73,826,430 		JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:21276947 PMID:23711981 PMID:25741868 PMID:26467025 PMID:26942291 More... NCBI chr13:45,620,372...45,968,295
Ensembl chr13:45,620,368...45,968,152 		JBrowse link
G PRNP prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr17:13,694,195...13,705,126
Ensembl chr17:13,694,190...13,705,124 		JBrowse link
G PTTG1IP PTTG1 interacting protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,493,656...207,507,089
Ensembl chr13:207,493,659...207,499,867 		JBrowse link
G PWP2 PWP2 small subunit processome component ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,015,047...207,031,752
Ensembl chr13:207,015,125...207,031,879 		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 chr13:205,127,239...205,153,000
Ensembl chr13:205,127,244...205,153,005 		JBrowse link
G RRP1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,722,591...206,736,000
Ensembl chr13:206,722,596...206,735,997 		JBrowse link
G RRP1B ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,629,176...206,653,374
Ensembl chr13:206,629,204...206,651,123 		JBrowse link
G RSPH1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,808,923...205,827,098
Ensembl chr13:205,808,671...205,827,213 		JBrowse link
G SACS sacsin molecular chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316 		JBrowse link
G SCARB2 scavenger receptor class B member 2 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Familial progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy		 ClinVar PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 More... NCBI chr 8:71,838,395...71,910,461
Ensembl chr 8:71,838,397...71,940,607 		JBrowse link
G SDAD1 SDA1 domain containing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,612,591...71,646,852
Ensembl chr 8:71,613,174...71,646,779 		JBrowse link
G SERPINI1 serpin family I member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr13:106,559,326...106,636,930
Ensembl chr13:106,559,736...106,658,110 		JBrowse link
G SHROOM3 shroom family member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:72,097,561...72,443,869 JBrowse link
G SIK1 salt inducible kinase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,454,695...206,465,802
Ensembl chr13:206,454,718...206,465,807 		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 chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675 		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 chr13:205,826,948...205,901,824
Ensembl chr13:205,843,095...205,898,586 		JBrowse link
G SLX9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,560,855...207,588,502
Ensembl chr13:207,560,990...207,588,501 		JBrowse link
G SPATC1L spermatogenesis and centriole associated 1 like ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532
G STBD1 starch binding domain 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,982,987...71,987,880 JBrowse link
G SUMO3 small ubiquitin like modifier 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,475,303...207,484,362
Ensembl chr13:207,476,441...207,484,250 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277 		JBrowse link
G TFF1 trefoil factor 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,687,558...205,691,512
Ensembl chr13:205,687,560...205,691,460 		JBrowse link
G TFF2 trefoil factor 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,669,014...205,672,319
Ensembl chr13:205,669,014...205,672,324 		JBrowse link
G TFF3 trefoil factor 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,641,038...205,644,333
Ensembl chr13:205,641,038...205,644,333 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,707,501...205,733,037
Ensembl chr13:205,709,663...205,732,824 		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 9:3,135,580...3,143,408
Ensembl chr 9:3,135,642...3,143,404 		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 chr13:206,936,311...207,013,112
Ensembl chr13:206,936,333...207,013,102 		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 chr13:207,212,339...207,263,313
Ensembl chr13:207,212,457...207,262,064 		JBrowse link
G TSC1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17484760 NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951 		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 chr13:207,285,878...207,412,523
Ensembl chr13:207,285,886...207,412,511 		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 chr13:206,244,772...206,257,697
Ensembl chr13:206,244,773...206,257,702 		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 chr13:205,744,395...205,786,484
Ensembl chr13:205,744,393...205,787,056 		JBrowse link
G UBE2G2 ubiquitin conjugating enzyme E2 G2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,444,529...207,471,826
Ensembl chr13:207,444,533...207,471,796 		JBrowse link
G UMODL1 uromodulin like 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,425,338...205,494,492
Ensembl chr13:205,425,454...205,491,629 		JBrowse link
G USO1 USO1 vesicle transport factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,363,627...71,451,258
Ensembl chr 8:71,363,614...71,452,939 		JBrowse link
G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,074,943...206,094,713
Ensembl chr13:206,074,945...206,094,297 		JBrowse link
G WNT9B Wnt family member 9B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:21549339 PMID:28492532 NCBI chr12:17,709,046...17,733,434
Ensembl chr12:17,709,046...17,733,431 		JBrowse link
G YBEY ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532
G ZBTB21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,345,675...205,365,151
Ensembl chr13:205,349,805...205,353,008 		JBrowse link
progressive myoclonus epilepsy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Early-onset Lafora body disease ClinVar PMID:28492532 NCBI chr 8:137,728,849...137,878,336
Ensembl chr 8:137,618,616...137,878,333 		JBrowse link
G PRDM8 PR/SET domain 8 ISO ClinVar Annotator: match by term: Early-onset Lafora body disease | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10 OMIM
ClinVar		 PMID:22961547 PMID:25741868 PMID:28492532 NCBI chr 8:137,604,805...137,611,389
Ensembl chr 8:137,605,600...137,612,651 		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:25741868 PMID:28492532 PMID:32169168 PMID:35604360 NCBI chr 2:74,262,303...74,296,386
Ensembl chr 2:74,258,439...74,296,385 		JBrowse link
Progressive Myoclonus Epilepsy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRMT7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 ClinVar PMID:25741868 PMID:33085104 NCBI chr 6:28,883,148...28,945,904
Ensembl chr 6:28,883,646...28,945,905 		JBrowse link
G SLC7A6OS solute carrier family 7 member 6 opposite strand ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 OMIM
ClinVar		 PMID:25741868 PMID:33085104 NCBI chr 6:28,874,220...28,883,572
Ensembl chr 6:28,872,665...28,883,548 		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 chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646 		JBrowse link
progressive myoclonus epilepsy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRICKLE1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B | ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:18976727 PMID:20301774 More... NCBI chr 5:73,707,026...73,826,529
Ensembl chr 5:73,707,050...73,826,430 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B ClinVar PMID:25401298 PMID:25741868 PMID:27281533 PMID:28492532 PMID:30335140 NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277 		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 3:18,433,564...18,450,296
Ensembl chr 3:18,433,836...18,450,290 		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 chr 3:16,382,333...16,393,861
Ensembl chr 3:16,385,006...16,393,841 		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 chr13:6,104,382...6,533,505
Ensembl chr13:6,104,537...6,532,592 		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 chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690 		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 OMIM
ClinVar		 PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 More... NCBI chr 8:71,838,395...71,910,461
Ensembl chr 8:71,838,397...71,940,607 		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 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238 		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 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844 		JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 ClinVar PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 More... NCBI chr13:45,620,372...45,968,295
Ensembl chr13:45,620,368...45,968,152 		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 chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792 		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: Progressive myoclonic epilepsy type 6 OMIM
ClinVar		 PMID:16199547 PMID:19057520 PMID:21549339 PMID:23449775 PMID:24458321 More... NCBI chr12:17,768,082...17,799,313
Ensembl chr12:17,768,111...17,789,315 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111 		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 2:40,219,288...40,240,614
Ensembl chr 2:40,215,353...40,240,616 		JBrowse link
G GTF2H1 general transcription factor IIH subunit 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,857,720...40,900,591
Ensembl chr 2:40,857,723...40,900,624 		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 2:40,906,785...40,938,847
Ensembl chr 2:40,906,806...40,941,944 		JBrowse link
G IGSF22 immunoglobulin superfamily member 22 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,524,004...40,544,231 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 2:41,362,208...41,407,935
Ensembl chr 2:41,362,347...41,408,127 		JBrowse link
G LDHA lactate dehydrogenase A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,814,163...40,827,284
Ensembl chr 2:40,814,169...40,826,715 		JBrowse link
G LDHC lactate dehydrogenase C ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,748,567...40,810,114
Ensembl chr 2:40,748,863...40,809,692 		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 2:40,372,994...40,376,693 JBrowse link
G MYOD1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:41,422,522...41,424,236
Ensembl chr 2:41,415,775...41,424,435 		JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:41,497,201...41,590,564
Ensembl chr 2:41,497,200...41,584,948 		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 2:40,458,865...40,521,470
Ensembl chr 2:40,459,049...40,521,461 		JBrowse link
G SAA2 serum amyloid A-2 protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,972,797...40,976,222 JBrowse link
G SAA4 serum amyloid A-4 protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,986,869...41,003,059 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 2:41,028,673...41,054,578
Ensembl chr 2:41,028,693...41,056,420 		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 2:41,114,174...41,356,043
Ensembl chr 2:41,114,178...41,356,038 		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 2:40,581,816...40,604,040
Ensembl chr 2:40,582,984...40,604,038 		JBrowse link
G TMEM86A transmembrane protein 86A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,545,773...40,550,838
Ensembl chr 2:40,545,776...40,550,843 		JBrowse link
G TPH1 tryptophan hydroxylase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:41,075,623...41,109,005
Ensembl chr 2:41,075,628...41,109,437 		JBrowse link
G TSG101 tumor susceptibility 101 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,673,187...40,720,681 JBrowse link
G UEVLD UEV and lactate/malate dehyrogenase domains ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,617,086...40,671,701
Ensembl chr 2:40,617,039...40,669,595 		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 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247 		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 2:40,251,511...40,310,455
Ensembl chr 2:40,251,246...40,310,455 		JBrowse link
progressive myoclonus epilepsy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMC6 armadillo repeat containing 6 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,808,691...58,828,483
Ensembl chr 2:58,808,692...58,828,489 		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 chr 2:58,684,508...58,696,586
Ensembl chr 2:58,684,543...58,698,173 		JBrowse link
G COMP cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:59,061,409...59,068,951
Ensembl chr 2:59,061,426...59,069,564 		JBrowse link
G COPE COPI coat complex subunit epsilon ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,930,929...58,948,466
Ensembl chr 2:58,930,931...58,948,469 		JBrowse link
G DDX49 DEAD-box helicase 49 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,922,985...58,930,710
Ensembl chr 2:58,922,988...58,930,716 		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 chr 2:58,972,918...58,976,294
Ensembl chr 2:58,951,726...58,974,672 		JBrowse link
G HOMER3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,913,949...58,922,474
Ensembl chr 2:58,913,992...58,922,474 		JBrowse link
G MEF2B myocyte enhancer factor 2B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,699,173...58,722,554
Ensembl chr 2:58,695,691...58,722,557 		JBrowse link
G NR2C2AP nuclear receptor 2C2 associated protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,675,987...58,678,025
Ensembl chr 2:58,675,990...58,678,130 		JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,677,534...58,684,016
Ensembl chr 2:58,677,538...58,683,882 		JBrowse link
G SLC25A42 solute carrier family 25 member 42 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,753,363...58,803,356
Ensembl chr 2:58,753,371...58,801,832 		JBrowse link
G SUGP2 SURP and G-patch domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,828,009...58,865,859
Ensembl chr 2:58,828,251...58,865,852 		JBrowse link
G TMEM161A transmembrane protein 161A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,728,738...58,744,939
Ensembl chr 2:58,728,813...58,744,937 		JBrowse link
G UPF1 UPF1 RNA helicase and ATPase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,975,013...59,013,546
Ensembl chr 2:58,975,023...59,013,495 		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 2:76,658,073...76,666,561
Ensembl chr 2:76,658,068...76,666,552 		JBrowse link
G ADAMTSL5 ADAMTS like 5 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,966,155...76,975,555
Ensembl chr 2:76,966,766...76,975,820 		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 2:76,628,626...76,634,282
Ensembl chr 2:76,628,633...76,634,262 		JBrowse link
G AMH anti-Mullerian hormone ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,415,564...76,418,315
Ensembl chr 2:76,414,427...76,418,312 		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 2:76,428,443...76,471,266
Ensembl chr 2:76,428,476...76,471,257 		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 2:77,005,706...77,034,583
Ensembl chr 2:77,005,706...77,034,561 		JBrowse link
G ATP8B3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,722,257...76,745,899
Ensembl chr 2:76,722,247...76,745,898 		JBrowse link
G BTBD2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,538,538...76,559,928
Ensembl chr 2:76,538,523...76,559,919 		JBrowse link
G C2H19orf25 chromosome 2 C19orf25 homolog ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,998,982...77,003,332
Ensembl chr 2:76,998,982...77,003,326 		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 2:76,573,979...76,609,631
Ensembl chr 2:76,573,987...76,609,384 		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 2:76,339,452...76,401,974
Ensembl chr 2:76,339,470...76,401,965 		JBrowse link
G IZUMO4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,472,227...76,475,227
Ensembl chr 2:76,472,231...76,475,170 		JBrowse link
G JSRP1 junctional sarcoplasmic reticulum protein 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,418,508...76,422,405
Ensembl chr 2:76,418,320...76,422,263 		JBrowse link
G KLF16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,680,219...76,690,823
Ensembl chr 2:76,680,020...76,690,841 		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 2:76,264,077...76,280,627
Ensembl chr 2:76,264,071...76,280,623 		JBrowse link
G LMNB2 lamin B2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar
OMIM		 PMID:9536098 PMID:16826530 PMID:17576681 PMID:22768673 PMID:22995991 More... NCBI chr 2:76,125,932...76,146,564
Ensembl chr 2:76,125,927...76,146,558 		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 2:76,247,010...76,251,824
Ensembl chr 2:76,247,058...76,252,598 		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 2:76,913,880...76,923,435
Ensembl chr 2:76,906,644...76,923,432 		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 2:76,929,583...76,938,238
Ensembl chr 2:76,929,619...76,938,367 		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 2:76,510,302...76,522,885
Ensembl chr 2:76,510,303...76,522,883 		JBrowse link
G MOB3A MOB kinase activator 3A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,475,397...76,495,015
Ensembl chr 2:76,475,530...76,496,060 		JBrowse link
G OAZ1 ornithine decarboxylase antizyme 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,293,142...76,296,626
Ensembl chr 2:76,293,150...76,296,620 		JBrowse link
G ONECUT3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,751,070...76,769,812
Ensembl chr 2:76,750,069...76,769,812 		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 2:76,982,806...76,996,507
Ensembl chr 2:76,989,544...76,997,766 		JBrowse link
G PEAK3 PEAK family member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,285,163...76,291,295
Ensembl chr 2:76,285,882...76,291,290 		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 2:76,402,453...76,405,170
Ensembl chr 2:76,402,460...76,405,170 		JBrowse link
G PLK5 polo like kinase 5 (inactive) ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,948,062...76,956,310 JBrowse link
G REEP6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,983,431...76,989,017 JBrowse link
G REXO1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,694,269...76,719,026
Ensembl chr 2:76,693,796...76,718,394 		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 2:76,614,984...76,634,314
Ensembl chr 2:76,615,000...76,634,264 		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 2:76,404,882...76,414,901
Ensembl chr 2:76,410,602...76,415,776 		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 2:76,230,060...76,247,067
Ensembl chr 2:76,230,061...76,247,051 		JBrowse link
G TCF3 transcription factor 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351 		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 2:76,146,946...76,148,163
Ensembl chr 2:76,146,867...76,155,729 		JBrowse link
G TMPRSS9 transmembrane serine protease 9 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,158,059...76,228,444
Ensembl chr 2:76,158,045...76,224,446 		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 2:76,903,219...76,906,276
Ensembl chr 2:76,903,281...76,909,544 		JBrowse link
reflex epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase ISO RGD PMID:9706369 RGD:1598520 NCBI chr 3:33,913,068...33,960,804
Ensembl chr 3:33,908,970...34,015,474 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 treatment ISO RGD PMID:30813600 RGD:14995940 NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406 		JBrowse link
G TRPV1 transient receptor potential cation channel subfamily V member 1 treatment ISO RGD PMID:29105300 RGD:13450923 NCBI chr12:49,676,536...49,709,634
Ensembl chr12:49,677,291...49,713,977 		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 OMIM
ClinVar		 PMID:16199547 PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 More... NCBI chr17:5,712,048...5,749,811
Ensembl chr17:5,712,058...5,758,821 		JBrowse link
Unverricht-Lundborg syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSTB cystatin B ISO ClinVar Annotator: match by term: Unverricht-Lundborg syndrome OMIM
ClinVar		 PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      electroclinical syndrome 1317
        variable age at onset electroclinical syndrome 194
          progressive myoclonus epilepsy + 191
          reflex epilepsy + 3
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        central nervous system disease 11610
          brain disease 10899
            epilepsy 2736
              electroclinical syndrome 1317
                variable age at onset electroclinical syndrome 194
                  progressive myoclonus epilepsy + 191
                  reflex epilepsy + 3
paths to the root