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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.


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 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:28492532 NCBI chr20:10,330,960...10,415,358
Ensembl chr20:10,384,507...10,415,358 		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 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 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: Progressive myoclonic epilepsy		 ClinVar PMID:25741868 PMID:26467025 PMID:27843123 PMID:28041643 PMID:28492532 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 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 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 More... NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526 		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 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
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 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 chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867 		JBrowse link
G Gatd3a glutamine amidotransferase class 1 domain containing 3A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar 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 ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Progressive myoclonic epilepsy, X-linked
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 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 Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242 		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 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 Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar NCBI chr 2:123,822,042...123,882,913
Ensembl chr 2:123,816,614...123,857,971 		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 chr17:17,674,375...17,675,565
Ensembl chr17:17,674,319...17,677,148 		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 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 5:135,121,176...135,141,076
Ensembl chr 5:135,121,163...135,142,048 		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 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 More... NCBI chr 4:124,869,552...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 Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:10,499,332...10,512,965
Ensembl chr20:10,499,363...10,513,640 		JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar 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:28492532 NCBI chr20:10,123,111...10,148,704
Ensembl chr20:10,123,125...10,147,928 		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 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: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 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 Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991 		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 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 1:160,097,984...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:28492532 NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074 		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
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 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 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 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 More... NCBI chr17:17,674,375...17,675,565
Ensembl chr17:17,674,319...17,677,148 		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: 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 More... NCBI chr17:17,674,375...17,675,565
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 Prdm8 PR/SET domain 8 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10 OMIM
ClinVar		 PMID:22961547 PMID:25741868 PMID:28492532 NCBI chr14:11,403,202...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:32169168 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 Slc7a6os solute carrier family 7, member 6 opposite strand ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12
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 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 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: Progressive myoclonus epilepsy with ataxia ClinVar PMID:25741868 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: Epilepsy, progressive myoclonic 3 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: Epilepsy, progressive myoclonic, 3, with intracellular inclusions
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 3
ClinVar Annotator: match by OMIM:611726		 OMIM
ClinVar		 PMID:2274208 PMID:9536098 PMID:16199547 PMID:17455289 PMID:17576681 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 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: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 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: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
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 1:98,528,067...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: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:97,321,401...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: Epilepsy, progressive myoclonic 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: Epilepsy, progressive myoclonic 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: Epilepsy, progressive myoclonic 7 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25401298 PMID:25741868 PMID:26467025 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: Epilepsy, progressive myoclonic 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: Epilepsy, progressive myoclonic 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 Mrgprx1 MAS related GPR family member X1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:98,401,140...98,403,148
Ensembl chr 1:98,401,538...98,415,284 		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 1:98,116,192...98,135,534 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 1:97,720,377...97,746,953
Ensembl chr 1:97,721,436...97,746,900 		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 1:97,806,099...97,807,112
Ensembl chr 1:97,806,099...97,807,112 		JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 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: Epilepsy, progressive myoclonic 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: Epilepsy, progressive myoclonic 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: Epilepsy, progressive myoclonic 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: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:97,218,706...97,222,287 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 1:96,949,660...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: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:97,531,495...97,549,633
Ensembl chr 1:97,531,508...97,549,581 		JBrowse link
G Tmem86a transmembrane protein 86A ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 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: Epilepsy, progressive myoclonic 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: Epilepsy, progressive myoclonic 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: Epilepsy, progressive myoclonic 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: Epilepsy, progressive myoclonic 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: Epilepsy, progressive myoclonic 7 ClinVar PMID:28492532 NCBI chr 1:98,487,309...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 Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by OMIM:616230
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 8		 ClinVar
OMIM		 PMID:9536098 PMID:14648004 PMID:17576681 PMID:17924340 PMID:19243074 More... NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519 		JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 8 ClinVar PMID:9536098 PMID:14648004 PMID:17576681 PMID:17924340 PMID:19243074 More... NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519 		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 More... NCBI chr 7:8,792,628...8,808,665
Ensembl chr 7:8,789,314...8,808,665 		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: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY
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:24033266 PMID:24164096 PMID:24355074 PMID:25326635 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 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 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 17435
    syndrome 8262
      electroclinical syndrome 706
        variable age at onset electroclinical syndrome 73
          progressive myoclonus epilepsy 68
            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 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            movement disease 1416
              Dyskinesias 1078
                Myoclonus 125
                  Myoclonic Epilepsies 120
                    progressive myoclonus epilepsy 68
                      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