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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


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dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO OMIM NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755
JBrowse link
Lafora disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Lafora disease
ClinVar Annotator: match by OMIM:254780
OMIM
ClinVar
PMID:9771710, PMID:9931343, PMID:10932264, PMID:11175283, PMID:11735300, PMID:11739371, PMID:12019207, PMID:14706656, PMID:14722920, PMID:16021330, PMID:16134145, PMID:17010495, PMID:17389303, PMID:21623095, PMID:25246353, PMID:25544560, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512
JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Lafora disease
ClinVar Annotator: match by OMIM:254780
OMIM
ClinVar
PMID:12958597, PMID:12960212, PMID:15781812, PMID:15930137, PMID:16021330, PMID:16134145, PMID:16190947, PMID:16311711, PMID:16529633, PMID:16950819, PMID:17952067, PMID:18029386, PMID:18256682, PMID:18263761, PMID:18311786, PMID:18414213, PMID:19322595, PMID:19744044, PMID:20301563, PMID:20738377, PMID:21505799, PMID:22047982, PMID:22815132, PMID:23806086, PMID:25270369, PMID:25667860, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28556688, PMID:29588937, PMID:29899791, PMID:30701169 NCBI chr17:18,059,382...18,060,572
Ensembl chr17:18,059,382...18,060,572
JBrowse link
MERRF Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Myoclonus with epilepsy with ragged red fibers ClinVar PMID:15767514, PMID:16816025, PMID:17400793, PMID:18332249 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
Progressive Myoclonic Epilepsy 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 2b
ClinVar PMID:12958597, PMID:12960212, PMID:15781812, PMID:15930137, PMID:16134145, PMID:16311711, PMID:16529633, PMID:16950819, PMID:18029386, PMID:18256682, PMID:18263761, PMID:18311786, PMID:19744044, PMID:20301563, PMID:20738377, PMID:21505799, PMID:22815132, PMID:25741868, PMID:28492532, PMID:28556688 NCBI chr17:18,059,382...18,060,572
Ensembl chr17:18,059,382...18,060,572
JBrowse link
progressive myoclonus epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adsl adenylosuccinate lyase ISO ClinVar Annotator: match by term: Myoclonic epilepsy, progressive ClinVar PMID:10090474, PMID:10888601, PMID:10958654, PMID:18524658, PMID:20127976, PMID:22180458, PMID:25741868, PMID:28492532 NCBI chr 7:122,157,201...122,192,328
Ensembl chr 7:122,157,201...122,192,328
JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510
JBrowse link
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:11,060,584...11,144,806
Ensembl chr20:11,114,164...11,144,806
JBrowse link
G Atn1 atrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10814707 NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755
JBrowse link
G Cers1 ceramide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:134,757,934...134,873,053
Ensembl chr 1:134,757,934...134,871,167
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive ClinVar PMID:25741868, PMID:26467025, PMID:27843123, PMID:28041643, PMID:28492532, PMID:28542676 NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive ClinVar PMID:18414213, PMID:24767253, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr15:93,634,815...93,644,146 JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive
CTD
ClinVar
PMID:25401298 NCBI chr 8:67,733,215...67,748,170
Ensembl chr 8:67,733,215...67,748,172
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
ClinVar PMID:8596935, PMID:9012407, PMID:9054946, PMID:9342192, PMID:9360639, PMID:12058102, PMID:15483648, PMID:17003839, PMID:17158032, PMID:17920138, PMID:18325013, PMID:21757863, PMID:22154554, PMID:23205931, PMID:25741868, PMID:26467025, PMID:26843564, PMID:28378817, PMID:28492532, PMID:32581362 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:177,012,714...177,047,787
Ensembl chr 3:177,013,604...177,043,902
JBrowse link
G Epm2a EPM2A glucan phosphatase, laforin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive
ClinVar Annotator: match by term: Progressive myoclonic epilepsy, X-linked
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9771710, PMID:9931343, PMID:10932264, PMID:11175283, PMID:11735300, PMID:12019207, PMID:14706656, PMID:14722920, PMID:16021330, PMID:16134145, PMID:16311711, PMID:17010495, PMID:17389303, PMID:17509003, PMID:18029386, PMID:18311786, PMID:18414213, PMID:19403557, PMID:20738377, PMID:21623095, PMID:25246353, PMID:25401298, PMID:25544560, PMID:25741868, PMID:26467025, PMID:26493215, PMID:28492532, PMID:28800070, PMID:28934672, PMID:9771710 RGD:9685621 NCBI chr 1:5,448,958...5,571,512
Ensembl chr 1:5,448,958...5,571,512
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive ClinVar PMID:18414213, PMID:24767253, PMID:25741868, PMID:28492532 NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
JBrowse link
G Gatd3a glutamine amidotransferase like class 1 domain containing 3A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:11,244,353...11,252,450
Ensembl chr20:11,244,353...11,252,449
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19057520, PMID:21549339, PMID:23449775, PMID:24458321, PMID:25326637, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28982678 NCBI chr10:91,735,772...91,756,123
Ensembl chr10:91,736,780...91,756,081
JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:10,757,172...10,844,177
Ensembl chr20:10,757,854...10,844,178
JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411
JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar NCBI chr12:30,024,080...30,033,357
Ensembl chr12:30,024,081...30,033,357
JBrowse link
G Lmnb2 lamin B2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:11,657,870...11,676,936
Ensembl chr 7:11,660,934...11,675,472
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003
JBrowse link
G Neu1 neuraminidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr20:4,610,995...4,615,258
Ensembl chr20:4,610,995...4,615,247
JBrowse link
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr17:18,059,382...18,060,572
Ensembl chr17:18,059,382...18,060,572
JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:12379221, PMID:22318854 RGD:724387, RGD:6480499 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link
G Otc ornithine carbamoyltransferase ISO ClinVar Annotator: match by term: Myoclonic epilepsy, progressive ClinVar PMID:18204299, PMID:18440262, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:9425237, PMID:9664077, PMID:9733046, PMID:10649502, PMID:10679943, PMID:11440996, PMID:11506414, PMID:17261688, PMID:19793312, PMID:21228398, PMID:21990111, PMID:23539563, PMID:23772246, PMID:24082928, PMID:25205113, PMID:25525159, PMID:25574475, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 5:140,538,260...140,558,163
Ensembl chr 5:140,538,260...140,558,162
JBrowse link
G Prdm8 PR/SET domain 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:13,052,776...13,073,583
Ensembl chr14:13,054,771...13,058,172
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Progressive myoclonic epilepsy, X-linked
ClinVar PMID:21276947, PMID:23711981, PMID:25741868, PMID:26467025, PMID:26942291, PMID:26942292, PMID:28492532, PMID:29358611 NCBI chr 4:124,238,167...124,584,176
Ensembl chr 4:124,238,167...124,338,176
JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:11,228,892...11,243,204
Ensembl chr20:11,228,844...11,243,205
JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:10,982,016...10,993,260
Ensembl chr20:10,981,998...10,993,280
JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:10,844,234...10,869,830
Ensembl chr20:10,844,266...10,869,821
JBrowse link
G Sacs sacsin molecular chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr15:41,448,078...41,530,412
Ensembl chr15:41,448,064...41,530,398
JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO
ISS
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
OMIM:254900 | OMIM:310370 | OMIM:611726 | OMIM:612437 | OMIM:614018
ClinVar
MouseDO
PMID:18308289, PMID:19847901, PMID:21670406, PMID:23515316, PMID:23659519, PMID:25088547, PMID:25741868, PMID:26467025, PMID:26836416, PMID:28222800, PMID:28492532, PMID:29261713, PMID:29358611 NCBI chr14:17,064,173...17,115,620
Ensembl chr14:17,064,353...17,115,963
JBrowse link
G Serpini1 serpin family I member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:10,670,747...10,680,279
Ensembl chr20:10,668,411...10,680,283
JBrowse link
G Slc7a6os solute carrier family 7, member 6 opposite strand ISO ClinVar Annotator: match by term: Myoclonic epilepsy, progressive ClinVar PMID:25741868 NCBI chr19:38,180,859...38,189,523
Ensembl chr19:38,180,861...38,189,523
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Myoclonic epilepsy, progressive ClinVar PMID:25741868, PMID:28492532 NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
G Tpp1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:170,588,036...170,594,159
Ensembl chr 1:170,588,035...170,594,168
JBrowse link
G Trappc10 trafficking protein particle complex 10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:28492532 NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625
JBrowse link
G Tsc1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17484760 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
progressive myoclonus epilepsy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm8 PR/SET domain 8 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10 OMIM
ClinVar
PMID:22961547, PMID:28492532 NCBI chr14:13,052,776...13,073,583
Ensembl chr14:13,054,771...13,058,172
JBrowse link
Progressive Myoclonus Epilepsy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 11 OMIM
ClinVar
PMID:32169168 NCBI chr 9:10,934,273...10,951,252
Ensembl chr 9:10,941,613...10,951,252
JBrowse link
progressive myoclonus epilepsy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cstb cystatin B ISO OMIM NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
progressive myoclonus epilepsy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prickle1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia
ClinVar Annotator: match by OMIM:612437
ClinVar
OMIM
PMID:18414213, PMID:18976727, PMID:20301774, PMID:21276947, PMID:21901791, PMID:24689077, PMID:25741868, PMID:26378787, PMID:26467025, PMID:28492532, PMID:29358611, PMID:29790814, PMID:30564977, PMID:32214227 NCBI chr 7:134,702,964...134,799,437
Ensembl chr 7:134,702,964...134,722,215
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia ClinVar PMID:25741868 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
progressive myoclonus epilepsy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 3 ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
JBrowse link
G Kctd7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 3
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 3, with intracellular inclusions
ClinVar Annotator: match by OMIM:611726
OMIM
ClinVar
PMID:2274208, PMID:15778103, PMID:17455289, PMID:18414213, PMID:19084560, PMID:21710140, PMID:22606975, PMID:22638565, PMID:22693283, PMID:22748208, PMID:25060828, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26795593, PMID:27742667, PMID:28492532, PMID:29056246, PMID:30295347, PMID:30500434, PMID:32581362 NCBI chr12:30,024,080...30,033,357
Ensembl chr12:30,024,081...30,033,357
JBrowse link
progressive myoclonus epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 4, with or without renal failure
ClinVar Annotator: match by OMIM:254900
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:15364701, PMID:18308289, PMID:18424452, PMID:19454373, PMID:19597094, PMID:19847901, PMID:21670406, PMID:21796727, PMID:22032306, PMID:22767442, PMID:23225201, PMID:23515316, PMID:23659519, PMID:24339182, PMID:24485911, PMID:24620919, PMID:25088547, PMID:25741868, PMID:26467025, PMID:26836416, PMID:28492532, PMID:29261713, PMID:29358611 NCBI chr14:17,064,173...17,115,620
Ensembl chr14:17,064,353...17,115,963
JBrowse link
progressive myoclonus epilepsy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 6 ClinVar PMID:25326637, PMID:28492532 NCBI chr 4:27,195,346...27,331,582
Ensembl chr 4:27,195,346...27,331,582
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 6 OMIM
ClinVar
PMID:21549339, PMID:23449775, PMID:24458321, PMID:25326637, PMID:25741868, PMID:28492532, PMID:28982678 NCBI chr10:91,735,772...91,756,123
Ensembl chr10:91,736,780...91,756,081
JBrowse link
progressive myoclonus epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 7 OMIM
ClinVar
PMID:25401298, PMID:25741868, PMID:26467025, PMID:27629860, PMID:28145425, PMID:28380698, PMID:28492532, PMID:31353855, PMID:31353862 NCBI chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411
JBrowse link
progressive myoclonus epilepsy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by OMIM:616230
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 8
ClinVar
OMIM
PMID:19243074, PMID:24782409, PMID:25741868, PMID:28492532, PMID:28991257, PMID:30311386 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 8 ClinVar PMID:19243074, PMID:24782409, PMID:25741868, PMID:28492532, PMID:28991257, PMID:30311386 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
JBrowse link
progressive myoclonus epilepsy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb2 lamin B2 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 9 ClinVar
OMIM
PMID:16826530, PMID:22995991, PMID:25741868, PMID:25954030, PMID:26467025, PMID:27535533, PMID:28492532 NCBI chr 7:11,657,870...11,676,936
Ensembl chr 7:11,660,934...11,675,472
JBrowse link
reflex epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase IDA RGD PMID:9706369 RGD:1598520 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 treatment IEP RGD PMID:30813600 RGD:14995940 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 treatment IMP RGD PMID:29105300 RGD:13450923 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
JBrowse link
spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy
ClinVar Annotator: match by term: Jankovic Rivera syndrome
ClinVar Annotator: match by OMIM:159950
OMIM
ClinVar
PMID:22703880, PMID:24164096, PMID:24355074, PMID:25326635, PMID:25741868, PMID:25847462, PMID:26526000, PMID:28492532, PMID:29358611 NCBI chr16:53,998,604...54,030,006
Ensembl chr16:53,998,560...54,040,836
JBrowse link
Unverricht-Lundborg syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cstb cystatin B ISO ClinVar Annotator: match by OMIM:254800
ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:7543407, PMID:8596935, PMID:9012407, PMID:9054946, PMID:9342192, PMID:9360639, PMID:11814737, PMID:12058102, PMID:15329070, PMID:15483648, PMID:16155205, PMID:17003839, PMID:17158032, PMID:18028412, PMID:18325013, PMID:18925453, PMID:20078424, PMID:21757863, PMID:22154554, PMID:22936898, PMID:23205931, PMID:25288807, PMID:25741868, PMID:26467025, PMID:26843564, PMID:28378817, PMID:28492532, PMID:29358611, PMID:32581362 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      electroclinical syndrome 396
        variable age at onset electroclinical syndrome 55
          progressive myoclonus epilepsy + 49
          reflex epilepsy + 6
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            epilepsy 1528
              electroclinical syndrome 396
                variable age at onset electroclinical syndrome 55
                  progressive myoclonus epilepsy + 49
                  reflex epilepsy + 6
paths to the root

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