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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 characterised 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: GARD:7140;   NCI:C7636;   OMIM:PS254800
For additional species annotation, visit the Alliance of Genome Resources.

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progressive myoclonus epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adsl adenylosuccinate lyase ISO ClinVar Annotator: match by term: Myoclonic epilepsy, progressive ClinVar PMID:10090474 PMID:10888601 PMID:10958654 PMID:18524658 PMID:20127976 PMID:22180458 PMID:25741868 PMID:28492532 NCBI chr 7:122,157,201...122,192,328
Ensembl chr 7:122,157,201...122,192,328 		JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510 		JBrowse link
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:11,060,584...11,144,806
Ensembl chr20:11,114,164...11,144,806 		JBrowse link
G Atn1 atrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10814707 NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755 		JBrowse link
G Cers1 ceramide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789 		JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167 		JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
ClinVar Annotator: match by term: Progressive myoclonic epilepsy		 ClinVar PMID:25741868 PMID:26467025 PMID:27843123 PMID:28041643 PMID:28492532 PMID:28542676 NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664 		JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive ClinVar PMID:18414213 PMID:24767253 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:93,634,815...93,644,146 JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive		 CTD
ClinVar		 PMID:25401298 NCBI chr 8:67,733,215...67,748,170
Ensembl chr 8:67,733,215...67,748,172 		JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive		 ClinVar PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 PMID:15483648 PMID:17003839 PMID:17920138 PMID:23205931 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:32581362 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432 		JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:177,012,714...177,047,787
Ensembl chr 3:177,013,604...177,043,902 		JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive
ClinVar Annotator: match by term: Progressive myoclonic epilepsy, X-linked
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 PMID:12019207 PMID:14706656 PMID:14722920 PMID:16021330 PMID:16134145 PMID:16311711 PMID:17010495 PMID:17389303 PMID:17509003 PMID:18029386 PMID:18311786 PMID:18414213 PMID:19403557 PMID:20738377 PMID:21623095 PMID:25246353 PMID:25401298 PMID:25544560 PMID:25741868 PMID:26467025 PMID:26493215 PMID:28492532 PMID:28800070 PMID:28934672 PMID:31493945, PMID:9771710 RGD:9685621 NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512 		JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive ClinVar PMID:18414213 PMID:24767253 PMID:25741868 PMID:28492532 NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395 		JBrowse link
G Gatd3a glutamine amidotransferase like class 1 domain containing 3A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:11,244,353...11,252,450
Ensembl chr20:11,244,353...11,252,449 		JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:16199547 PMID:19057520 PMID:21549339 PMID:23449775 PMID:24458321 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28982678 NCBI chr10:91,735,772...91,756,123
Ensembl chr10:91,736,780...91,756,081 		JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:10,757,172...10,844,177
Ensembl chr20:10,757,854...10,844,178 		JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411 		JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar NCBI chr12:30,024,080...30,033,357
Ensembl chr12:30,024,081...30,033,357 		JBrowse link
G Lmnb2 lamin B2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myoclonic epilepsy, progressive		 CTD
ClinVar		 NCBI chr 7:11,657,870...11,676,936
Ensembl chr 7:11,660,934...11,675,472 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003 		JBrowse link
G Neu1 neuraminidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr20:4,610,995...4,615,258
Ensembl chr20:4,610,995...4,615,247 		JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr17:18,059,382...18,060,572
Ensembl chr17:18,059,382...18,060,572 		JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:12379221, PMID:22318854 RGD:724387, RGD:6480499 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:9425237 PMID:9664077 PMID:9733046 PMID:10649502 PMID:10679943 PMID:11440996 PMID:11506414 PMID:17261688 PMID:19793312 PMID:21228398 PMID:21990111 PMID:23539563 PMID:23772246 PMID:24082928 PMID:25205113 PMID:25525159 PMID:25574475 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:140,538,260...140,558,163
Ensembl chr 5:140,538,260...140,558,162 		JBrowse link
G Prdm8 PR/SET domain 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:13,052,776...13,073,583
Ensembl chr14:13,054,771...13,058,172 		JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Progressive myoclonic epilepsy, X-linked		 ClinVar PMID:21276947 PMID:23711981 PMID:25741868 PMID:26467025 PMID:26942291 PMID:26942292 PMID:28166811 PMID:28492532 PMID:29358611 NCBI chr 4:124,238,167...124,584,176
Ensembl chr 4:124,238,167...124,338,176 		JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316 		JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:11,228,892...11,243,204
Ensembl chr20:11,228,844...11,243,205 		JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:10,982,016...10,993,260
Ensembl chr20:10,981,998...10,993,280 		JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:10,844,234...10,869,830
Ensembl chr20:10,844,266...10,869,821 		JBrowse link
G Sacs sacsin molecular chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398 		JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO
ISS		 ClinVar Annotator: match by term: Progressive myoclonic epilepsy
OMIM:254900 | OMIM:310370 | OMIM:611726 | OMIM:612437 | OMIM:614018		 ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:18308289 PMID:19847901 PMID:21670406 PMID:23515316 PMID:23659519 PMID:25088547 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28222800 PMID:28492532 PMID:29261713 PMID:29358611 NCBI chr14:17,064,173...17,115,620
Ensembl chr14:17,064,353...17,115,963 		JBrowse link
G Serpini1 serpin family I member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752 		JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:10,670,747...10,680,279
Ensembl chr20:10,668,411...10,680,283 		JBrowse link
G Slc7a6os solute carrier family 7, member 6 opposite strand ISO ClinVar Annotator: match by term: Myoclonic epilepsy, progressive ClinVar PMID:25741868 PMID:33085104 NCBI chr19:38,180,859...38,189,523
Ensembl chr19:38,180,861...38,189,523 		JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Myoclonic epilepsy, progressive ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384 		JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive
ClinVar Annotator: match by term: Progressive myoclonic epilepsy		 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:170,588,036...170,594,159
Ensembl chr 1:170,588,035...170,594,168 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17484760 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145 		JBrowse link
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO OMIM NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755 		JBrowse link
Lafora disease 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: Lafora disease
ClinVar Annotator: match by OMIM:254780		 OMIM
ClinVar		 PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 PMID:11739371 PMID:12019207 PMID:14706656 PMID:14722920 PMID:16021330 PMID:16134145 PMID:17010495 PMID:17389303 PMID:21623095 PMID:25246353 PMID:25544560 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512 		JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Lafora disease
ClinVar Annotator: match by OMIM:254780		 OMIM
ClinVar		 PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16021330 PMID:16134145 PMID:16190947 PMID:16311711 PMID:16529633 PMID:16950819 PMID:17952067 PMID:18029386 PMID:18256682 PMID:18263761 PMID:18311786 PMID:18414213 PMID:19322595 PMID:19744044 PMID:20301563 PMID:20738377 PMID:21505799 PMID:22047982 PMID:22815132 PMID:23806086 PMID:25270369 PMID:25667860 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28556688 PMID:29431110 PMID:29588937 PMID:29899791 PMID:30701169 PMID:31227012 PMID:31758957 PMID:31858178 NCBI chr17:18,059,382...18,060,572
Ensembl chr17:18,059,382...18,060,572 		JBrowse link
MERRF Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Myoclonus with epilepsy with ragged red fibers ClinVar PMID:15767514 PMID:16816025 PMID:17400793 PMID:18332249 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
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 null
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 2b		 ClinVar PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16134145 PMID:16311711 PMID:16529633 PMID:16950819 PMID:18029386 PMID:18256682 PMID:18263761 PMID:18311786 PMID:19744044 PMID:20301563 PMID:20738377 PMID:21505799 PMID:22815132 PMID:25270369 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28556688 PMID:29431110 PMID:31227012 PMID:31758957 PMID:31858178 NCBI chr17:18,059,382...18,060,572
Ensembl chr17:18,059,382...18,060,572 		JBrowse link
progressive myoclonus epilepsy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm8 PR/SET domain 8 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10 OMIM
ClinVar		 PMID:22961547 PMID:25741868 PMID:28492532 NCBI chr14:13,052,776...13,073,583
Ensembl chr14:13,054,771...13,058,172 		JBrowse link
Progressive Myoclonus Epilepsy 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 OMIM
ClinVar		 PMID:32169168 NCBI chr 9:10,934,273...10,951,252
Ensembl chr 9:10,941,613...10,951,252 		JBrowse link
Progressive Myoclonus Epilepsy 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr19:38,180,859...38,189,523
Ensembl chr19:38,180,861...38,189,523 		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 chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432 		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 ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia
ClinVar Annotator: match by OMIM:612437		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:18976727 PMID:20301774 PMID:21276947 PMID:21901791 PMID:24689077 PMID:25741868 PMID:26378787 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29790814 PMID:30564977 PMID:31035234 PMID:32214227 NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia ClinVar PMID:25741868 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384 		JBrowse link
progressive myoclonus epilepsy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664 		JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 3
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 3, with intracellular inclusions
ClinVar Annotator: match by OMIM:611726		 OMIM
ClinVar		 PMID:2274208 PMID:9536098 PMID:17455289 PMID:17576681 PMID:18414213 PMID:22606975 PMID:22693283 PMID:22748208 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26795593 PMID:27742667 PMID:28492532 PMID:29056246 PMID:29655203 PMID:30295347 PMID:30500434 PMID:31216804 PMID:32581362 NCBI chr12:30,024,080...30,033,357
Ensembl chr12:30,024,081...30,033,357 		JBrowse link
progressive myoclonus epilepsy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 4, with or without renal failure
ClinVar Annotator: match by OMIM:254900
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:9536098 PMID:15364701 PMID:17576681 PMID:18308289 PMID:18424452 PMID:19454373 PMID:19597094 PMID:19847901 PMID:21670406 PMID:21796727 PMID:22032306 PMID:22767442 PMID:23225201 PMID:23515316 PMID:23659519 PMID:24339182 PMID:24485911 PMID:24620919 PMID:25088547 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28492532 PMID:29261713 PMID:29358611 NCBI chr14:17,064,173...17,115,620
Ensembl chr14:17,064,353...17,115,963 		JBrowse link
progressive myoclonus epilepsy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 6 OMIM
ClinVar		 PMID:16199547 PMID:21549339 PMID:23449775 PMID:24458321 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28982678 NCBI chr10:91,735,772...91,756,123
Ensembl chr10:91,736,780...91,756,081 		JBrowse link
progressive myoclonus epilepsy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csrp3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:104,147,205...104,166,389
Ensembl chr 1:104,147,206...104,166,367 		JBrowse link
G Gtf2h1 general transcription factor IIH subunit 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:102,849,618...102,877,939
Ensembl chr 1:102,849,889...102,877,944 		JBrowse link
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:102,810,114...102,849,430
Ensembl chr 1:102,776,082...102,849,430 		JBrowse link
G Igsf22 immunoglobulin superfamily member 22 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:103,178,310...103,195,425 JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25401298 PMID:25741868 PMID:26467025 PMID:27629860 PMID:28145425 PMID:28166811 PMID:28380698 PMID:28492532 PMID:31353855 PMID:31353862 NCBI chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411 		JBrowse link
G Ldha lactate dehydrogenase A ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:102,900,288...102,909,713
Ensembl chr 1:102,900,286...102,909,707 		JBrowse link
G Ldhc lactate dehydrogenase C ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:102,914,875...102,931,843
Ensembl chr 1:102,915,191...102,931,839 		JBrowse link
G Mrgprx1 MAS related GPR family member X1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:104,023,700...104,049,356
Ensembl chr 1:104,023,738...104,024,682 		JBrowse link
G Mrgprx2 MAS related GPR family member X2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:103,743,746...103,760,945
Ensembl chr 1:103,741,503...103,760,913 		JBrowse link
G Mrgprx3 MAS related GPR family member X3 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:103,298,172...103,323,476
Ensembl chr 1:103,298,174...103,323,476 		JBrowse link
G Mrgprx4 MAS related GPR family member X4 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:103,378,242...103,388,240
Ensembl chr 1:103,379,325...103,380,338 		JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248 		JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:102,258,124...102,327,201
Ensembl chr 1:102,258,124...102,327,201 		JBrowse link
G Ptpn5 protein tyrosine phosphatase, non-receptor type 5 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:103,197,918...103,258,309
Ensembl chr 1:103,197,915...103,256,823 		JBrowse link
G Saa4 serum amyloid A4 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:102,776,079...102,780,381
Ensembl chr 1:102,776,082...102,849,430 		JBrowse link
G Saal1 serum amyloid A-like 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:102,738,691...102,743,571 JBrowse link
G Sergef secretion regulating guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:102,461,327...102,664,978
Ensembl chr 1:102,461,329...102,664,951 		JBrowse link
G Spty2d1 SPT2 chromatin protein domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:103,115,280...103,129,438
Ensembl chr 1:103,115,216...103,128,743 		JBrowse link
G Tmem86a transmembrane protein 86A ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:103,173,032...103,177,382
Ensembl chr 1:103,172,987...103,177,417 		JBrowse link
G Tph1 tryptophan hydroxylase 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:102,669,868...102,699,442
Ensembl chr 1:102,669,868...102,699,442 		JBrowse link
G Tsg101 tumor susceptibility 101 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:102,941,151...102,971,017
Ensembl chr 1:102,941,231...102,970,950 		JBrowse link
G Uevld UEV and lactate/malate dehyrogenase domains ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:102,982,833...103,014,472
Ensembl chr 1:102,982,123...103,014,388 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459 		JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:104,106,211...104,145,045
Ensembl chr 1:104,106,245...104,145,044 		JBrowse link
progressive myoclonus epilepsy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by OMIM:616230
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 8		 ClinVar
OMIM		 PMID:14648004 PMID:17924340 PMID:19243074 PMID:20413652 PMID:24782409 PMID:25741868 PMID:28492532 PMID:28991257 PMID:30800706 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789 		JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 8 ClinVar PMID:14648004 PMID:17924340 PMID:19243074 PMID:20413652 PMID:24782409 PMID:25741868 PMID:28492532 PMID:28991257 PMID:30800706 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767 		JBrowse link
progressive myoclonus epilepsy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb2 lamin B2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 9 ClinVar
OMIM		 PMID:9536098 PMID:16826530 PMID:17576681 PMID:22995991 PMID:25741868 PMID:25954030 PMID:26467025 PMID:27535533 PMID:28492532 NCBI chr 7:11,657,870...11,676,936
Ensembl chr 7:11,660,934...11,675,472 		JBrowse link
spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy
ClinVar Annotator: match by term: Jankovic Rivera syndrome
ClinVar Annotator: match by OMIM:159950		 OMIM
ClinVar		 PMID:22703880 PMID:24164096 PMID:24355074 PMID:25326635 PMID:25578555 PMID:25741868 PMID:25847462 PMID:26526000 PMID:28492532 PMID:29169047 PMID:29358611 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836 		JBrowse link
Unverricht-Lundborg syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cstb cystatin B ISO ClinVar Annotator: match by OMIM:254800
ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:7543407 PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 PMID:11814737 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17003839 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22154554 PMID:22936898 PMID:23205931 PMID:25288807 PMID:25741868 PMID:26467025 PMID:26843564 PMID:28492532 PMID:29358611 PMID:32581362 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      electroclinical syndrome 655
        variable age at onset electroclinical syndrome 75
          progressive myoclonus epilepsy 70
            Amyotrophic Lateral Sclerosis with Polyglucosan Bodies 0
            Lafora disease 2
            MERRF Syndrome + 3
            Progressive Myoclonic Epilepsy 2B 1
            Progressive Myoclonus Epilepsy 11 1
            Progressive Myoclonus Epilepsy 12 1
            Unverricht-Lundborg syndrome + 3
            dentatorubral-pallidoluysian atrophy 1
            progressive myoclonus epilepsy 10 1
            progressive myoclonus epilepsy 3 2
            progressive myoclonus epilepsy 4 1
            progressive myoclonus epilepsy 6 1
            progressive myoclonus epilepsy 7 24
            progressive myoclonus epilepsy 8 2
            progressive myoclonus epilepsy 9 1
            spinal muscular atrophy with progressive myoclonic epilepsy 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            movement disease 1237
              Dyskinesias 905
                Myoclonus 123
                  Myoclonic Epilepsies 118
                    progressive myoclonus epilepsy 70
                      Amyotrophic Lateral Sclerosis with Polyglucosan Bodies 0
                      Lafora disease 2
                      MERRF Syndrome + 3
                      Progressive Myoclonic Epilepsy 2B 1
                      Progressive Myoclonus Epilepsy 11 1
                      Progressive Myoclonus Epilepsy 12 1
                      Unverricht-Lundborg syndrome + 3
                      dentatorubral-pallidoluysian atrophy 1
                      progressive myoclonus epilepsy 10 1
                      progressive myoclonus epilepsy 3 2
                      progressive myoclonus epilepsy 4 1
                      progressive myoclonus epilepsy 6 1
                      progressive myoclonus epilepsy 7 24
                      progressive myoclonus epilepsy 8 2
                      progressive myoclonus epilepsy 9 1
                      spinal muscular atrophy with progressive myoclonic epilepsy 1
paths to the root