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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:progressive myoclonus epilepsy
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Accession:DOID:891 term browser browse the term
Definition:A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death. (DO)
Synonyms:exact_synonym: Biotin Responsive Encephalopathy;   Biotin-Responsive Encephalopathies;   Familial Progressive Myoclonic Epilepsy;   May White syndrome;   NOD;   PME;   atypical inclusion body disease;   atypical inclusion-body diseases;   progressive myoclonic epilepsies;   progressive myoclonic epilepsy;   progressive myoclonus epilepsies
 narrow_synonym: neuronal ceroid-lipofuscinosis, dominant/recessive;   neuronal ceroid-lipofuscinosis, recessive;   progressive myoclonic epilepsy, X-linked
 primary_id: MESH:D020191
 alt_id: OMIM:310370
 xref: EFO:0020039;   GARD:7140;   NCI:C7636;   OMIM:PS254800
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
progressive myoclonus epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948 		JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852 		JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110 		JBrowse link
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,330,960...10,415,358
Ensembl chr20:10,384,507...10,415,358 		JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060 		JBrowse link
G Art3 ADP-ribosyltransferase 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,637,230...15,719,442
Ensembl chr14:15,637,237...15,665,407 		JBrowse link
G Atn1 atrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10814707 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132 		JBrowse link
G C20h21orf58 similar to human chromosome 21 open reading frame 58 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,167,279...12,188,665
Ensembl chr20:12,175,442...12,187,017 		JBrowse link
G C2cd2 C2 calcium-dependent domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr11:37,225,321...37,289,741
Ensembl chr11:37,227,415...37,289,739 		JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Ccdc158 coiled-coil domain containing 158 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,411,178...15,468,579
Ensembl chr14:15,411,163...15,468,581 		JBrowse link
G Cdkl2 cyclin dependent kinase like 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:16,027,381...16,063,257
Ensembl chr14:16,028,363...16,063,252 		JBrowse link
G Cers1 ceramide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737 		JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502 		JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy		 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:27843123 More... NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434 		JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:18414213 PMID:24767253 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438 		JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive		 CTD
ClinVar		 PMID:25401298 NCBI chr 8:63,303,356...63,318,360
Ensembl chr 8:63,303,029...63,318,360 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349 		JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526 		JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,704,772...15,706,969
Ensembl chr14:15,704,758...15,706,975 		JBrowse link
G Cxcl11 C-X-C motif chemokine ligand 11 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,689,432...15,692,207
Ensembl chr14:15,689,424...15,692,271 		JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435 		JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:168,621,905...168,656,570
Ensembl chr 3:168,621,969...168,655,935 		JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,614,933...10,629,337
Ensembl chr20:10,614,934...10,629,516 		JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9536098 PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 More... RGD:9685621 NCBI chr 1:5,727,111...5,845,338
Ensembl chr 1:5,727,066...5,920,555 		JBrowse link
G Fam47e family with sequence similarity 47, member E ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,485,537...15,521,599
Ensembl chr14:15,485,127...15,521,775 		JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:18414213 PMID:24767253 PMID:25741868 PMID:28492532 NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
G G3bp2 G3BP stress granule assembly factor 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,932,403...16,020,555
Ensembl chr14:15,987,417...16,020,548 		JBrowse link
G Gatd3a glutamine amidotransferase class 1 domain containing 3A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,514,793...10,522,894
Ensembl chr20:10,514,744...10,522,885 		JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19057520 PMID:21549339 More... NCBI chr10:88,585,291...88,605,642
Ensembl chr10:88,586,299...88,605,625 		JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242 		JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 1:96,902,953...96,944,744
Ensembl chr 1:96,902,953...96,944,744 		JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar NCBI chr12:26,520,969...26,532,327
Ensembl chr12:26,523,142...26,532,138 		JBrowse link
G Krtap10-1 keratin associated protein 10-1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,880,524...10,881,445
Ensembl chr20:10,855,181...10,864,362 		JBrowse link
G Krtap10-10 keratin associated protein 10-10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,854,951...10,864,402 JBrowse link
G Krtap10-2 keratin associated protein 10-2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,888,588...10,889,386 JBrowse link
G Krtap10-8 keratin associated protein 10-8 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,871,991...10,872,927
Ensembl chr20:10,871,991...10,872,844 		JBrowse link
G Krtap10-9 keratin associated protein 10-9 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,939,609...10,940,526
Ensembl chr20:10,939,609...10,940,526 		JBrowse link
G Krtap12-1 keratin associated protein 12-1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,917,340...10,917,949 JBrowse link
G Krtap12-2 keratin associated protein 12-2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,904,422...10,904,751 JBrowse link
G Krtap12-4 keratin associated protein 12-4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,910,350...10,910,682 JBrowse link
G Lmnb2 lamin B2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:8,792,628...8,808,665
Ensembl chr 7:8,789,314...8,808,665 		JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,758,919...10,763,736
Ensembl chr20:10,758,955...10,762,067 		JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762 		JBrowse link
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:28492532 NCBI chr 2:123,822,042...123,847,808
Ensembl chr 2:123,816,614...123,857,971 		JBrowse link
G Naaa N-acylethanolamine acid amidase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,777,306...15,796,411
Ensembl chr14:15,777,306...15,796,410 		JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,612,462...9,621,622
Ensembl chr20:9,612,431...9,623,074
Ensembl chr13:9,612,431...9,623,074 		JBrowse link
G Neu1 neuraminidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745 		JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr17:17,674,303...17,677,144
Ensembl chr17:17,674,319...17,677,148 		JBrowse link
G Nup54 nucleoporin 54 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,617,630...15,636,029
Ensembl chr14:15,617,679...15,636,028 		JBrowse link
G Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:16,071,835...16,080,151
Ensembl chr14:16,073,058...16,080,129 		JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:12379221 PMID:22318854 RGD:724387, RGD:6480499 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,678,218...11,878,210
Ensembl chr20:11,678,269...11,878,210 		JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710 		JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948 		JBrowse link
G Pfkl phosphofructokinase, liver type ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315 		JBrowse link
G Pknox1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,662,866...9,705,030
Ensembl chr20:9,662,899...9,703,727 		JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,367,073...11,377,788
Ensembl chr20:11,367,096...11,377,743 		JBrowse link
G Ppef2 protein phosphatase with EF-hand domain 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,797,414...15,831,620
Ensembl chr14:15,797,435...15,831,491 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:9425237 PMID:9664077 PMID:9733046 PMID:10649502 PMID:10679943 More... NCBI chr 5:135,121,164...135,142,048
Ensembl chr 5:135,121,163...135,142,048 		JBrowse link
G Prdm15 PR/SET domain 15 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr11:37,164,608...37,225,172
Ensembl chr11:37,165,575...37,222,207 		JBrowse link
G Prdm8 PR/SET domain 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:11,403,202...11,424,059
Ensembl chr14:11,404,407...11,410,993 		JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:18414213 PMID:21901791 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113 		JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:21276947 PMID:23711981 PMID:25741868 PMID:26467025 PMID:26942291 More... NCBI chr 4:124,869,655...125,214,862
Ensembl chr 4:124,869,552...125,214,824 		JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937 		JBrowse link
G Pttg1ip PTTG1 interacting protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,030,013...11,047,742
Ensembl chr20:11,030,015...11,047,316 		JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,499,332...10,512,965
Ensembl chr20:10,499,363...10,513,640 		JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799 		JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,260,892...10,272,141
Ensembl chr20:10,260,870...10,272,144 		JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,123,111...10,148,704
Ensembl chr20:10,123,125...10,147,928 		JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640 		JBrowse link
G Sacs sacsin molecular chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335 		JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISS
ISO		 OMIM:254900 | OMIM:310370 | OMIM:611726 | OMIM:612437 | OMIM:614018
ClinVar Annotator: match by term: Familial progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy		 MouseDO
ClinVar		 PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 More... NCBI chr14:15,558,271...15,609,813
Ensembl chr14:15,558,236...15,609,813 		JBrowse link
G Sdad1 SDA1 domain containing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,741,489...15,768,271
Ensembl chr14:15,741,434...15,771,066 		JBrowse link
G Serpini1 serpin family I member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135 		JBrowse link
G Shroom3 shroom family member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,099,415...15,396,832
Ensembl chr14:15,099,423...15,396,915 		JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		JBrowse link
G Slc37a1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,360,501...9,433,895
Ensembl chr20:9,378,836...9,433,892 		JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,114,632...11,147,532
Ensembl chr20:11,114,589...11,147,521 		JBrowse link
G Spatc1l spermatogenesis and centriole associated 1-like ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,074,040...12,083,873
Ensembl chr20:12,074,047...12,083,301 		JBrowse link
G Stbd1 starch binding domain 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,470,452...15,473,857
Ensembl chr14:15,469,582...15,477,443 		JBrowse link
G Sumo3 small ubiquitin-like modifier 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:11,010,140...11,020,850
Ensembl chr20:11,007,148...11,020,877
Ensembl chr20:11,007,148...11,020,877 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
G Tff1 trefoil factor 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597 		JBrowse link
G Tff2 trefoil factor 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619 		JBrowse link
G Tff3 trefoil factor 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054 		JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363 		JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:160,097,984...160,104,108
Ensembl chr 1:160,096,833...160,104,129 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074 		JBrowse link
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17484760 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914 		JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832 		JBrowse link
G Ubash3a ubiquitin associated and SH3 domain containing, A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,291,471...9,334,685
Ensembl chr20:9,292,139...9,329,224 		JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:10,983,734...11,005,468
Ensembl chr20:10,983,742...11,005,447 		JBrowse link
G Umodl1 uromodulin-like 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,027,751...9,087,133
Ensembl chr20:9,025,724...9,087,146 		JBrowse link
G Uso1 USO1 vesicle transport factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr14:15,866,638...15,932,185
Ensembl chr14:15,866,638...15,932,171 		JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581 		JBrowse link
G Wnt3 Wnt family member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:21549339 PMID:28492532 NCBI chr10:88,680,198...88,724,170
Ensembl chr10:88,680,248...88,724,099 		JBrowse link
G Wnt9b Wnt family member 9B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:21549339 PMID:28492532 NCBI chr10:88,635,330...88,657,035
Ensembl chr10:88,635,331...88,657,035 		JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr20:12,165,192...12,174,713
Ensembl chr20:12,165,237...12,174,713 		JBrowse link
G Zbtb21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr11:37,312,337...37,327,040
Ensembl chr11:37,312,378...37,326,996 		JBrowse link
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy OMIM
ClinVar		 PMID:25741868 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132 		JBrowse link
Lafora disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epm2a EPM2A glucan phosphatase, laforin ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lafora disease
OMIM:254780		 CTD
ClinVar
MouseDO		 PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 More... NCBI chr 1:5,727,111...5,845,338
Ensembl chr 1:5,727,066...5,920,555 		JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISS
ISO		 OMIM:254780
ClinVar Annotator: match by term: Epilepsy progressive myoclonic 2 | ClinVar Annotator: match by term: Lafora disease		 MouseDO
ClinVar		 PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16021330 More... NCBI chr17:17,674,303...17,677,144
Ensembl chr17:17,674,319...17,677,148 		JBrowse link
G Tpmt thiopurine S-methyltransferase ISO ClinVar Annotator: match by term: Lafora disease ClinVar PMID:15781812 PMID:17389303 PMID:23317923 PMID:28492532 NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709 		JBrowse link
MERRF Syndrome term browser
Symbol Object Name 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 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: MERRF syndrome ClinVar PMID:15767514 PMID:16816025 PMID:17400793 PMID:18332249 PMID:25741868 NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
Myoclonic Epilepsy of Lafora 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1 OMIM
ClinVar		 PMID:25741905 NCBI chr 1:5,727,111...5,845,338
Ensembl chr 1:5,727,066...5,920,555 		JBrowse link
Myoclonic Epilepsy of Lafora 2 term browser
Symbol Object Name 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 chr17:17,674,303...17,677,144
Ensembl chr17:17,674,319...17,677,148 		JBrowse link
Progressive Myoclonic Epilepsy 2B term browser
Symbol Object Name 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 chr17:17,674,303...17,677,144
Ensembl chr17:17,674,319...17,677,148 		JBrowse link
progressive myoclonus epilepsy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Early-onset Lafora body disease ClinVar PMID:28492532 NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094 		JBrowse link
G Prdm8 PR/SET domain 8 ISO ClinVar Annotator: match by term: Early-onset Lafora body disease | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10 OMIM
ClinVar		 PMID:22961547 PMID:25741868 PMID:28492532 NCBI chr14:11,403,202...11,424,059
Ensembl chr14:11,404,407...11,410,993 		JBrowse link
Progressive Myoclonus Epilepsy 11 term browser
Symbol Object Name 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 9:950,939...967,905
Ensembl chr 9:950,939...961,521 		JBrowse link
Progressive Myoclonus Epilepsy 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prmt7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 ClinVar PMID:25741868 PMID:33085104 NCBI chr19:34,110,724...34,161,531
Ensembl chr19:34,110,747...34,162,577 		JBrowse link
G Slc7a6os solute carrier family 7, member 6 opposite strand ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 OMIM
ClinVar		 PMID:25741868 PMID:33085104 NCBI chr19:34,101,978...34,110,666
Ensembl chr19:34,101,982...34,110,651 		JBrowse link
progressive myoclonus epilepsy 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cstb cystatin B ISO OMIM NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526 		JBrowse link
progressive myoclonus epilepsy 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prickle1 prickle planar cell polarity protein 1 ISO
ISS		 ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B | ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia
OMIM:612437
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:18976727 PMID:20301774 More... NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B ClinVar PMID:25401298 PMID:25741868 PMID:27281533 PMID:28492532 PMID:30335140 NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
progressive myoclonus epilepsy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434 		JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS
CTD Direct Evidence: marker/mechanism
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
CTD		 PMID:9536098 PMID:16199547 PMID:17455289 PMID:17576681 PMID:18414213 More... NCBI chr12:26,520,969...26,532,327
Ensembl chr12:26,523,142...26,532,138 		JBrowse link
progressive myoclonus epilepsy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnh8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome ClinVar PMID:25741868 NCBI chr 9:5,506,044...5,945,828
Ensembl chr 9:5,506,044...5,945,828 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome ClinVar PMID:25741868 NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 4, with or without renal failure
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 More... NCBI chr14:15,558,271...15,609,813
Ensembl chr14:15,558,236...15,609,813 		JBrowse link
progressive myoclonus epilepsy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640 		JBrowse link
G 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 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5		 ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: 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 chr 4:124,869,655...125,214,862
Ensembl chr 4:124,869,552...125,214,824 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 ClinVar PMID:21689831 PMID:25741868 PMID:28492532 NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
progressive myoclonus epilepsy 6 term browser
Symbol Object Name 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 chr10:88,585,291...88,605,642
Ensembl chr10:88,586,299...88,605,625 		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 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
progressive myoclonus epilepsy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:98,528,067...98,546,647
Ensembl chr 1:98,528,068...98,546,653 		JBrowse link
G Gtf2h1 general transcription factor IIH subunit 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,321,417...97,349,455
Ensembl chr 1:97,321,394...97,349,455 		JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,281,626...97,320,945
Ensembl chr 1:97,247,598...97,321,019 		JBrowse link
G Igsf22 immunoglobulin superfamily member 22 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,601,938...97,618,144 JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: KCNC1-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25363768 PMID:25401298 PMID:25741868 More... NCBI chr 1:96,902,953...96,944,744
Ensembl chr 1:96,902,953...96,944,744 		JBrowse link
G Ldha lactate dehydrogenase A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,371,823...97,381,247
Ensembl chr 1:97,366,021...97,433,472 		JBrowse link
G Ldhc lactate dehydrogenase C ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,385,984...97,403,382
Ensembl chr 1:97,382,379...97,403,378 		JBrowse link
G Mrgprb2 MAS-related GPR, member B2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:98,401,140...98,403,162
Ensembl chr 1:98,401,538...98,415,284 		JBrowse link
G Mrgprx1 MAS related GPR family member X1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,806,099...97,807,070
Ensembl chr 1:97,806,099...97,807,112 		JBrowse link
G Mrgprx2 MAS related GPR family member X2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:98,116,192...98,135,534 JBrowse link
G Mrgprx3 MAS related GPR family member X3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,720,377...97,746,953
Ensembl chr 1:97,721,436...97,746,900 		JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554 		JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:96,746,336...96,815,416
Ensembl chr 1:96,746,336...96,815,415 		JBrowse link
G Ptpn5 protein tyrosine phosphatase, non-receptor type 5 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,620,638...97,681,186
Ensembl chr 1:97,620,642...97,679,882 		JBrowse link
G Saa4 serum amyloid A4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,247,580...97,251,882 JBrowse link
G Saal1 serum amyloid A-like 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,198,685...97,218,131
Ensembl chr 1:97,198,800...97,222,156 		JBrowse link
G Sergef secretion regulating guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:96,949,660...97,152,529
Ensembl chr 1:96,949,661...97,152,496 		JBrowse link
G Spty2d1 SPT2 chromatin protein domain containing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,531,495...97,549,616
Ensembl chr 1:97,531,508...97,549,581 		JBrowse link
G Tmem86a transmembrane protein 86A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,595,910...97,600,260
Ensembl chr 1:97,595,842...97,600,260 		JBrowse link
G Tph1 tryptophan hydroxylase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344 		JBrowse link
G Tsg101 tumor susceptibility 101 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,412,689...97,442,589
Ensembl chr 1:97,410,848...97,442,554 		JBrowse link
G Uevld UEV and lactate/malate dehyrogenase domains ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:97,454,188...97,486,004
Ensembl chr 1:97,453,946...97,486,000 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 1:98,487,319...98,525,906
Ensembl chr 1:98,487,358...98,525,905 		JBrowse link
progressive myoclonus epilepsy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc6 armadillo repeat containing 6 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,191,106...19,201,528
Ensembl chr16:19,191,093...19,206,047 		JBrowse link
G Borcs8 BLOC-1 related complex subunit 8 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,274,305...19,280,969
Ensembl chr16:19,274,023...19,280,339 		JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19243074 PMID:24033266 More... NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519 		JBrowse link
G Comp cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845 		JBrowse link
G Cope COPI coat complex subunit epsilon ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,114,871...19,125,076
Ensembl chr16:19,114,871...19,128,907 		JBrowse link
G Ddx49 DEAD-box helicase 49 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,125,388...19,133,042
Ensembl chr16:19,125,384...19,133,616 		JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19243074 PMID:24033266 More... NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519 		JBrowse link
G Homer3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,132,177...19,142,739
Ensembl chr16:19,132,162...19,142,680 		JBrowse link
G Mef2b myocyte enhancer factor 2B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,253,008...19,269,514
Ensembl chr16:19,253,010...19,268,967 		JBrowse link
G Nr2c2ap nuclear receptor 2C2-associated protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,288,454...19,290,940
Ensembl chr16:19,288,454...19,290,719 		JBrowse link
G Rfxank regulatory factor X-associated ankyrin-containing protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,280,857...19,288,886
Ensembl chr16:19,281,475...19,460,255 		JBrowse link
G Slc25a42 solute carrier family 25, member 42 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,213,914...19,251,990
Ensembl chr16:19,213,950...19,237,025 		JBrowse link
G Sugp2 SURP and G patch domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,159,951...19,191,412
Ensembl chr16:19,164,767...19,191,340 		JBrowse link
G Tmem161a transmembrane protein 161A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,237,638...19,248,151
Ensembl chr16:19,238,487...19,248,087 		JBrowse link
G Upf1 UPF1, RNA helicase and ATPase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr16:19,076,594...19,097,365
Ensembl chr16:19,076,322...19,096,568 		JBrowse link
progressive myoclonus epilepsy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd17a abhydrolase domain containing 17A, depalmitoylase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,124,332...9,132,762
Ensembl chr 7:9,124,332...9,130,762 		JBrowse link
G Adamtsl5 ADAMTS-like 5 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,362,623...9,371,248
Ensembl chr 7:9,363,237...9,370,285 		JBrowse link
G Adat3 adenosine deaminase, tRNA-specific 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,109,070...9,113,673
Ensembl chr 7:9,101,187...9,115,340 		JBrowse link
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,906,776...8,909,192
Ensembl chr 7:8,906,836...8,909,282 		JBrowse link
G Ap3d1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,970,249...9,005,651
Ensembl chr 7:8,970,291...9,005,643 		JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310 		JBrowse link
G Atp8b3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,175,544...9,195,449
Ensembl chr 7:9,175,391...9,195,442 		JBrowse link
G Btbd2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,058,609...9,075,341
Ensembl chr 7:9,060,788...9,075,344 		JBrowse link
G C7h19orf25 similar to human chromosome 19 open reading frame 25 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,390,255...9,392,383 JBrowse link
G Csnk1g2 casein kinase 1, gamma 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,076,739...9,095,082
Ensembl chr 7:9,076,740...9,095,052 		JBrowse link
G Dot1l DOT1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,918,764...8,959,474
Ensembl chr 7:8,917,786...8,956,475 		JBrowse link
G Izumo4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,007,276...9,010,428
Ensembl chr 7:9,007,280...9,010,032 		JBrowse link
G Klf16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,138,503...9,148,322
Ensembl chr 7:9,138,503...9,148,317 		JBrowse link
G Lingo3 leucine rich repeat and Ig domain containing 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,869,025...8,878,431
Ensembl chr 7:8,869,025...8,878,431 		JBrowse link
G Lmnb2 lamin B2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar
OMIM		 PMID:9536098 PMID:16826530 PMID:17576681 PMID:22768673 PMID:22995991 More... NCBI chr 7:8,792,628...8,808,665
Ensembl chr 7:8,789,314...8,808,665 		JBrowse link
G Lsm7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,856,698...8,859,113
Ensembl chr 7:8,856,489...8,859,119 		JBrowse link
G Mbd3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,312,961...9,320,166
Ensembl chr 7:9,313,098...9,320,165 		JBrowse link
G Mex3d mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,325,575...9,332,705
Ensembl chr 7:9,325,488...9,332,096 		JBrowse link
G Mknk2 MAPK interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,039,771...9,050,832
Ensembl chr 7:9,039,728...9,050,827 		JBrowse link
G Mob3a MOB kinase activator 3A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,010,490...9,027,888
Ensembl chr 7:9,010,587...9,027,879 		JBrowse link
G Oaz1 ornithine decarboxylase antizyme 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,883,855...8,886,315
Ensembl chr 7:8,883,851...8,886,310 		JBrowse link
G Onecut3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,199,997...9,219,303
Ensembl chr 7:9,200,035...9,219,158
Ensembl chr 7:9,200,035...9,219,158 		JBrowse link
G Pcsk4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,381,366...9,389,589
Ensembl chr 7:9,381,361...9,389,585 		JBrowse link
G Plekhj1 pleckstrin homology domain containing J1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,915,492...8,920,491 JBrowse link
G Plk5 polo-like kinase 5 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,346,777...9,367,923
Ensembl chr 7:9,346,777...9,355,196 		JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,373,927...9,380,845
Ensembl chr 7:9,373,927...9,380,597 		JBrowse link
G Rexo1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,154,050...9,174,035
Ensembl chr 7:9,154,061...9,173,454 		JBrowse link
G Scamp4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,101,504...9,113,929
Ensembl chr 7:9,101,489...9,113,967 		JBrowse link
G Sf3a2 splicing factor 3A subunit 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,909,507...8,916,104
Ensembl chr 7:8,909,507...8,915,530 		JBrowse link
G Sppl2b signal peptide peptidase-like 2B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,843,918...8,856,642
Ensembl chr 7:8,843,918...8,856,608 		JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314 		JBrowse link
G Timm13 translocase of inner mitochondrial membrane 13 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,809,069...8,810,172
Ensembl chr 7:8,809,058...8,809,910 		JBrowse link
G Tmprss9 transmembrane serine protease 9 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:8,810,321...8,831,177
Ensembl chr 7:8,810,320...8,831,177 		JBrowse link
G Uqcr11 ubiquinol-cytochrome c reductase, complex III subunit XI ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:9,305,042...9,309,753
Ensembl chr 7:9,305,058...9,309,750 		JBrowse link
spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:16199547 PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 More... NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233 		JBrowse link
Unverricht-Lundborg syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cstb cystatin B ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Unverricht-Lundborg syndrome		 CTD
MouseDO
ClinVar
OMIM		 PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      electroclinical syndrome 1351
        variable age at onset electroclinical syndrome 202
          progressive myoclonus epilepsy 197
            Amyotrophic Lateral Sclerosis with Polyglucosan Bodies 0
            Lafora disease + 3
            MERRF Syndrome + 3
            Progressive Myoclonic Epilepsy 2B 1
            Progressive Myoclonus Epilepsy 11 1
            Progressive Myoclonus Epilepsy 12 2
            Unverricht-Lundborg syndrome + 3
            dentatorubral-pallidoluysian atrophy 1
            progressive myoclonus epilepsy 10 2
            progressive myoclonus epilepsy 3 2
            progressive myoclonus epilepsy 4 3
            progressive myoclonus epilepsy 5 5
            progressive myoclonus epilepsy 6 2
            progressive myoclonus epilepsy 7 24
            progressive myoclonus epilepsy 8 15
            progressive myoclonus epilepsy 9 34
            spinal muscular atrophy with progressive myoclonic epilepsy 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            movement disease 2576
              Dyskinesias 2190
                Myoclonus 379
                  Myoclonic Epilepsies 372
                    progressive myoclonus epilepsy 197
                      Amyotrophic Lateral Sclerosis with Polyglucosan Bodies 0
                      Lafora disease + 3
                      MERRF Syndrome + 3
                      Progressive Myoclonic Epilepsy 2B 1
                      Progressive Myoclonus Epilepsy 11 1
                      Progressive Myoclonus Epilepsy 12 2
                      Unverricht-Lundborg syndrome + 3
                      dentatorubral-pallidoluysian atrophy 1
                      progressive myoclonus epilepsy 10 2
                      progressive myoclonus epilepsy 3 2
                      progressive myoclonus epilepsy 4 3
                      progressive myoclonus epilepsy 5 5
                      progressive myoclonus epilepsy 6 2
                      progressive myoclonus epilepsy 7 24
                      progressive myoclonus epilepsy 8 15
                      progressive myoclonus epilepsy 9 34
                      spinal muscular atrophy with progressive myoclonic epilepsy 1
paths to the root