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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:Myoclonus
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Accession:DOID:9007722 term browser browse the term
Definition:Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).
Synonyms:exact_synonym: Intention Myoclonus;   Myoclonic Jerk;   Myoclonic Jerking;   Myoclonic Jerks;   Myoclonus Simplex;   Nocturnal Myoclonus;   Oculopalatal Myoclonus;   Palatal Myoclonus;   Polymyoclonus;   action myoclonus;   eyelid myoclonus;   lower extremity myoclonus;   segmental myoclonus;   sleep myoclonus;   upper extremity myoclonus
 primary_id: MESH:D009207
 xref: MIM:PS614937



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Myoclonus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MECP2 methyl-CpG binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19559301 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Myoclonus ClinVar NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Myoclonus ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543
JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Myoclonus ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
JBrowse link
G TNXB tenascin XB ISO ClinVar Annotator: match by term: Myoclonus ClinVar PMID:25741868 NCBI chr 7:24,088,873...24,155,815
Ensembl chr 7:24,088,881...24,150,596
JBrowse link
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATN1 atrophin 1 ISO ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy OMIM
ClinVar
PMID:25741868 NCBI chr 5:63,782,159...63,795,648
Ensembl chr 5:63,782,162...63,795,648
JBrowse link
developmental and epileptic encephalopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIDD1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 ClinVar PMID:25741868 NCBI chr 2:499,294...505,740
Ensembl chr 2:499,303...504,871
JBrowse link
G SLC25A22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3 OMIM
ClinVar
PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25033742 More... NCBI chr 2:491,288...498,773
Ensembl chr 2:491,293...498,767
JBrowse link
Dravet syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAT1 BRCA1 associated ATM activator 1 ISO ClinVar Annotator: match by term: Dravet syndrome ClinVar PMID:22279524 PMID:25500575 PMID:25741868 PMID:28492532 PMID:29390993 NCBI chr 3:1,905,648...1,918,229
Ensembl chr 3:1,905,656...1,918,227
JBrowse link
G CGN cingulin ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 4:97,704,805...97,730,498 JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar NCBI chr16:61,441,622...61,543,375
Ensembl chr16:61,441,632...61,543,361
JBrowse link
G LYSMD1 LysM domain containing 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:98,082,551...98,093,427
Ensembl chr 4:98,082,540...98,095,322
JBrowse link
G PI4KB phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:97,918,234...97,949,929
Ensembl chr 4:97,918,245...97,949,931
JBrowse link
G PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:98,012,941...98,062,166
Ensembl chr 4:98,012,945...98,056,815
JBrowse link
G POGZ pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 4:97,776,579...97,833,287
Ensembl chr 4:97,776,589...97,833,282
JBrowse link
G PSMB4 proteasome 20S subunit beta 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 4:97,835,544...97,837,909
Ensembl chr 4:97,835,547...97,837,921
JBrowse link
G PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:97,994,060...98,004,727
Ensembl chr 4:97,994,065...98,004,688
JBrowse link
G RFX5 regulatory factor X5 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 4:97,901,955...97,913,283
Ensembl chr 4:97,902,172...97,913,283
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6 | ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy 6 | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy OMIM
ClinVar
PMID:1893009 PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 More... NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 6:44,597,461...44,607,488
Ensembl chr 6:44,597,482...44,607,481
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 More... NCBI chr15:72,745,706...72,912,352
Ensembl chr15:72,748,705...72,912,382
JBrowse link
G SELENBP1 selenium binding protein 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 4:97,860,925...97,894,007
Ensembl chr 4:97,837,981...97,894,301
JBrowse link
G SNX27 sorting nexin 27 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894286 PMID:28492532 More... NCBI chr 4:97,533,643...97,620,816
Ensembl chr 4:97,525,181...97,620,788
JBrowse link
G TMOD4 tropomodulin 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:98,074,380...98,079,346
Ensembl chr 4:98,074,387...98,079,343
JBrowse link
G TNFAIP8L2 TNF alpha induced protein 8 like 2 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:98,093,426...98,096,819
Ensembl chr 4:98,093,426...98,096,531
JBrowse link
G TUFT1 tuftelin 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 4:97,648,817...97,704,654
Ensembl chr 4:97,648,818...97,703,592
JBrowse link
G VPS72 vacuolar protein sorting 72 homolog ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:98,062,261...98,074,074
Ensembl chr 4:98,062,256...98,074,059
JBrowse link
G ZNF687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 4:97,949,931...97,959,058
Ensembl chr 4:97,949,931...97,958,882
JBrowse link
early myoclonic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNF cyclin F ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr 3:39,585,597...39,603,088
Ensembl chr 3:39,585,607...39,603,079
JBrowse link
G DIRAS1 DIRAS family GTPase 1 ISO Epilepsy, generalized myoclonic, with photosensitivity OMIA PMID:28223533 PMID:29194766 PMID:38003185 NCBI chr 2:75,921,145...75,927,231
Ensembl chr 2:75,908,509...75,929,151
JBrowse link
G EGR2 early growth response 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr14:66,280,665...66,291,308
Ensembl chr14:66,284,581...66,291,299
JBrowse link
G JMJD1C jumonji domain containing 1C ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22495311 PMID:25741868 More... NCBI chr14:66,640,845...66,966,911
Ensembl chr14:66,640,849...66,920,324
JBrowse link
G KCND2 potassium voltage-gated channel subfamily D member 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19171772 PMID:24501278 More... NCBI chr18:26,139,457...26,624,210
Ensembl chr18:26,139,457...26,623,233
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734
JBrowse link
G NRBF2 nuclear receptor binding factor 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr14:66,590,307...66,629,573
Ensembl chr14:66,590,372...66,631,363
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:25326637 PMID:28492532 NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 More... NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 More... NCBI chr15:72,745,706...72,912,352
Ensembl chr15:72,748,705...72,912,382
JBrowse link
G SLC25A22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe
ClinVar PMID:15592994 PMID:18414213 PMID:19780765 PMID:25033742 PMID:25741868 More... NCBI chr 2:491,288...498,773
Ensembl chr 2:491,293...498,767
JBrowse link
G SNX27 sorting nexin 27 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:97,533,643...97,620,816
Ensembl chr 4:97,525,181...97,620,788
JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile
ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile
ClinVar PMID:18414213 PMID:22277662 PMID:23526554 PMID:24033266 PMID:24291220 More... NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
JBrowse link
G TSPAN12 tetraspanin 12 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr18:26,046,645...26,112,924
Ensembl chr18:26,046,703...26,112,918
JBrowse link
G TUBA1A tubulin alpha 1a ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:30744660 PMID:31833200 NCBI chr 5:15,186,059...15,190,211
Ensembl chr 5:15,185,532...15,190,428
JBrowse link
familial adult myoclonic epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SAMD12 sterile alpha motif domain containing 12 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1 OMIM
ClinVar
PMID:25741868 NCBI chr 4:20,143,614...20,570,780
Ensembl chr 4:20,143,883...20,570,768
JBrowse link
familial adult myoclonic epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRA2B adrenoceptor alpha 2B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 ClinVar PMID:25741868 PMID:27124789 PMID:27431290 PMID:31130284 PMID:37644014 NCBI chr 3:45,760,966...45,762,306
Ensembl chr 3:45,760,541...45,764,175
JBrowse link
G STARD7 StAR related lipid transfer domain containing 7 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 OMIM
ClinVar
PMID:25741868 NCBI chr 3:46,992,708...47,017,668
Ensembl chr 3:46,992,777...47,019,206
JBrowse link
familial adult myoclonic epilepsy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARCHF6 membrane associated ring-CH-type finger 6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3 OMIM
ClinVar
PMID:25741868 NCBI chr16:72,043,294...72,127,869
Ensembl chr16:72,044,093...72,127,863
JBrowse link
familial adult myoclonic epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G YEATS2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 4 | ClinVar Annotator: match by term: YEATS2-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr13:121,637,823...121,746,131
Ensembl chr13:121,637,874...121,746,122
JBrowse link
familial adult myoclonic epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADIPOR1 adiponectin receptor 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:24,907,491...24,923,540
Ensembl chr10:24,907,491...24,915,686
JBrowse link
G ADORA1 adenosine A1 receptor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:113,835,279...113,875,899
Ensembl chr 9:113,835,921...113,872,365
JBrowse link
G ARL8A ADP ribosylation factor like GTPase 8A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:24,314,929...24,324,225
Ensembl chr10:24,314,932...24,324,228
JBrowse link
G ASCL5 achaete-scute family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:23,568,676...23,569,987
Ensembl chr10:23,569,391...23,569,927
JBrowse link
G ATP2B4 ATPase plasma membrane Ca2+ transporting 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:64,336,354...64,445,669
Ensembl chr 9:64,336,499...64,445,663
JBrowse link
G AVPR1B vasopressin receptor 1B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:66,769,472...66,776,916
Ensembl chr 9:66,772,591...66,776,931
JBrowse link
G BTG2 BTG anti-proliferation factor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:64,033,853...64,037,795
Ensembl chr 9:64,031,832...64,035,837
JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:23,503,701...23,567,797
Ensembl chr10:23,502,898...23,568,058
JBrowse link
G CAMSAP2 calmodulin regulated spectrin associated protein family member 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:23,275,302...23,360,167
Ensembl chr10:23,275,322...23,360,167
JBrowse link
G CDK18 cyclin dependent kinase 18 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:66,175,539...66,202,799
Ensembl chr 9:66,175,678...66,202,795
JBrowse link
G CHI3L1 chitinase 3 like 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131
JBrowse link
G CHIT1 chitinase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:113,927,715...113,941,445
Ensembl chr 9:113,927,720...113,941,433
JBrowse link
G CNTN2 contactin 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 OMIM
ClinVar
PMID:9536098 PMID:11178983 PMID:16199547 PMID:17576681 PMID:23518707 More... NCBI chr 9:65,737,488...65,776,412
Ensembl chr 9:65,736,740...65,776,396
JBrowse link
G CSRP1 cysteine and glycine rich protein 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:23,843,130...23,864,020
Ensembl chr10:23,843,134...23,864,016
JBrowse link
G CYB5R1 cytochrome b5 reductase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:24,926,167...24,931,772
Ensembl chr10:24,925,410...24,931,917
JBrowse link
G DDX59 DEAD-box helicase 59 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:23,198,879...23,222,530
Ensembl chr10:23,198,798...23,221,067
JBrowse link
G DSTYK dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:65,833,050...65,892,024
Ensembl chr 9:65,833,054...65,891,999
JBrowse link
G DYRK3 dual specificity tyrosine phosphorylation regulated kinase 3 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:67,268,600...67,279,617
Ensembl chr 9:67,268,633...67,280,111
JBrowse link
G EIF2D eukaryotic translation initiation factor 2D ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:67,240,586...67,261,250
Ensembl chr 9:67,240,588...67,261,223
JBrowse link
G ELF3 E74 like ETS transcription factor 3 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:24,237,852...24,242,266
Ensembl chr10:24,237,875...24,243,058
JBrowse link
G ELK4 ETS transcription factor ELK4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:66,293,038...66,316,239
Ensembl chr 9:66,297,338...66,323,168
JBrowse link
G ETNK2 ethanolamine kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:64,785,565...64,807,116
Ensembl chr 9:64,785,567...64,807,056
JBrowse link
G FAM72A family with sequence similarity 72 member A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:66,824,251...66,839,780 JBrowse link
G FMOD fibromodulin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:64,062,995...64,073,853
Ensembl chr 9:64,063,001...64,073,858
JBrowse link
G GPR25 G protein-coupled receptor 25 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:23,369,202...23,370,620
Ensembl chr10:23,369,321...23,370,418
JBrowse link
G GPR37L1 G protein-coupled receptor 37 like 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:24,306,731...24,315,093
Ensembl chr10:24,307,058...24,315,103
JBrowse link
G IGFN1 immunoglobulin like and fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:23,628,967...23,660,631 JBrowse link
G IKBKE inhibitor of nuclear factor kappa B kinase subunit epsilon ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:67,123,055...67,147,991
Ensembl chr 9:67,123,265...67,147,989
JBrowse link
G IL10 interleukin 10 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
JBrowse link
G INAVA innate immunity activator ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:23,392,202...23,414,318
Ensembl chr10:23,392,099...23,412,712
JBrowse link
G IPO9 importin 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:24,110,126...24,150,294
Ensembl chr10:24,110,064...24,150,291
JBrowse link
G KDM5B lysine demethylase 5B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:24,739,115...24,831,537
Ensembl chr10:24,736,838...24,831,447
JBrowse link
G KIF14 kinesin family member 14 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:23,123,379...23,177,919
Ensembl chr10:23,123,480...23,174,273
JBrowse link
G KIF21B kinesin family member 21B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:23,444,997...23,491,081
Ensembl chr10:23,445,000...23,491,181
JBrowse link
G KISS1 KiSS-1 metastasis suppressor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:64,842,277...64,853,653
Ensembl chr 9:64,834,820...64,853,610
JBrowse link
G KLHDC8A kelch domain containing 8A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:66,018,517...66,026,632
Ensembl chr 9:66,013,573...66,025,854
JBrowse link
G LAD1 ladinin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:23,767,204...23,779,743
Ensembl chr10:23,766,872...23,778,654
JBrowse link
G LAX1 lymphocyte transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:64,460,548...64,473,232
Ensembl chr 9:64,460,693...64,473,621
JBrowse link
G LEMD1 LEM domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:66,058,418...66,088,865
Ensembl chr 9:66,058,405...66,087,678
JBrowse link
G LGR6 leucine rich repeat containing G protein-coupled receptor 6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:24,358,946...24,454,430
Ensembl chr10:24,359,774...24,454,428
JBrowse link
G LMOD1 leiomodin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:24,165,293...24,194,823
Ensembl chr10:24,164,792...24,193,820
JBrowse link
G LRRN2 leucine rich repeat neuronal 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:65,279,480...65,352,792
Ensembl chr 9:65,279,485...65,352,945
JBrowse link
G MAPKAPK2 MAPK activated protein kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:67,314,651...67,365,060
Ensembl chr 9:67,314,609...67,366,470
JBrowse link
G MDM4 MDM4 regulator of p53 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:65,175,488...65,219,747
Ensembl chr 9:65,175,377...65,219,742
JBrowse link
G MFSD4A major facilitator superfamily domain containing 4A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:66,249,434...66,292,482
Ensembl chr 9:66,249,678...66,288,338
JBrowse link
G MYBPH myosin binding protein H ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:113,872,439...113,884,544
Ensembl chr 9:113,872,441...113,882,719
JBrowse link
G MYOG myogenin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:113,783,233...113,785,312
Ensembl chr 9:113,782,284...113,787,340
JBrowse link
G NAV1 neuron navigator 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:23,885,721...24,104,748
Ensembl chr10:23,885,798...24,102,340
JBrowse link
G NFASC neurofascin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:65,502,565...65,715,612
Ensembl chr 9:65,502,259...65,713,518
JBrowse link
G NUAK2 NUAK family kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:65,980,035...66,001,665
Ensembl chr 9:65,980,041...66,001,764
JBrowse link
G NUCKS1 nuclear casein kinase and cyclin dependent kinase substrate 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:66,398,845...66,435,548
Ensembl chr 9:66,398,227...66,435,517
JBrowse link
G OPTC opticin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:64,211,477...64,220,982
Ensembl chr 9:64,211,477...64,220,981
JBrowse link
G PHLDA3 pleckstrin homology like domain family A member 3 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:23,824,181...23,827,428
Ensembl chr10:23,826,874...23,827,245
JBrowse link
G PIK3C2B phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:65,073,728...65,154,861
Ensembl chr 9:65,073,738...65,154,538
JBrowse link
G PKP1 plakophilin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:23,689,394...23,735,457
Ensembl chr10:23,689,380...23,735,453
JBrowse link
G PLEKHA6 pleckstrin homology domain containing A6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:64,876,803...65,027,455
Ensembl chr 9:64,874,046...65,003,248
JBrowse link
G PM20D1 peptidase M20 domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:66,522,015...66,550,511 JBrowse link
G PPFIA4 PTPRF interacting protein alpha 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:113,727,857...113,777,772
Ensembl chr 9:113,727,855...113,777,766
JBrowse link
G PPP1R12B protein phosphatase 1 regulatory subunit 12B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:24,463,900...24,637,361
Ensembl chr10:24,465,041...24,637,358
JBrowse link
G PPP1R15B protein phosphatase 1 regulatory subunit 15B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:65,056,495...65,069,083
Ensembl chr 9:65,056,398...65,066,775
JBrowse link
G PRELP proline and arginine rich end leucine rich repeat protein ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:64,190,978...64,207,008
Ensembl chr 9:64,190,982...64,207,001
JBrowse link
G PTPN7 protein tyrosine phosphatase non-receptor type 7 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:24,325,289...24,336,426
Ensembl chr10:24,325,293...24,336,419
JBrowse link
G RAB29 RAB29, member RAS oncogene family ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:66,448,854...66,458,766
Ensembl chr 9:66,448,953...66,458,724
JBrowse link
G RABIF RAB interacting factor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:24,869,816...24,902,981
Ensembl chr10:24,869,829...24,900,266
JBrowse link
G RABIF RAB interacting factor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:24,859,382...24,867,141
Ensembl chr10:24,859,385...24,867,141
JBrowse link
G RASSF5 Ras association domain family member 5 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:67,157,167...67,237,366
Ensembl chr 9:67,157,167...67,237,365
JBrowse link
G RBBP5 RB binding protein 5, histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:65,783,725...65,821,681
Ensembl chr 9:65,783,736...65,821,650
JBrowse link
G REN renin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,658
JBrowse link
G RHEX regulator of hemoglobinization and erythroid cell expansion ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:66,736,563...66,759,659
Ensembl chr 9:66,745,910...66,759,393
JBrowse link
G RNPEP arginyl aminopeptidase ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:24,218,144...24,235,520
Ensembl chr10:24,218,139...24,235,518
JBrowse link
G SHISA4 shisa family member 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:24,158,648...24,161,504
Ensembl chr10:24,158,688...24,162,063
JBrowse link
G SLC26A9 solute carrier family 26 member 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:66,557,560...66,593,322
Ensembl chr 9:66,558,811...66,593,337
JBrowse link
G SLC41A1 solute carrier family 41 member 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:66,473,369...66,500,367
Ensembl chr 9:66,473,341...66,499,805
JBrowse link
G SLC45A3 solute carrier family 45 member 3 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:66,344,742...66,365,999
Ensembl chr 9:66,344,746...66,365,966
JBrowse link
G SNRPE small nuclear ribonucleoprotein polypeptide E ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:64,560,544...64,567,007
Ensembl chr 9:64,560,523...64,567,007
JBrowse link
G SOX13 SRY-box transcription factor 13 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:64,745,762...64,780,942
Ensembl chr 9:64,731,969...64,780,942
JBrowse link
G SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:66,838,062...67,117,315
Ensembl chr 9:66,838,123...67,117,315
JBrowse link
G SYT2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:24,638,645...24,727,198
Ensembl chr10:24,638,704...24,669,846
JBrowse link
G TIMM17A translocase of inner mitochondrial membrane 17A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:24,200,345...24,211,790
Ensembl chr10:24,200,368...24,211,786
JBrowse link
G TMCC2 transmembrane and coiled-coil domain family 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:65,910,175...65,952,606
Ensembl chr 9:65,924,880...65,952,596
JBrowse link
G TMEM183A transmembrane protein 183A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:113,713,046...113,726,645
Ensembl chr 9:113,713,032...113,725,847
JBrowse link
G TMEM81 transmembrane protein 81 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:65,780,520...65,782,831
Ensembl chr 9:65,780,934...65,781,891
JBrowse link
G TMEM9 transmembrane protein 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:23,586,487...23,600,042
Ensembl chr10:23,586,491...23,607,530
JBrowse link
G TNNI1 troponin I1, slow skeletal type ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:23,788,279...23,800,554
Ensembl chr10:23,788,279...23,804,119
JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396
JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr10:24,454,492...24,459,085
Ensembl chr10:24,454,495...24,459,057
JBrowse link
G ZC3H11A zinc finger CCCH-type containing 11A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 9:64,518,895...64,554,871 JBrowse link
familial adult myoclonic epilepsy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNRC6A trinucleotide repeat containing adaptor 6A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6 OMIM
ClinVar
PMID:25741868 PMID:28492532
familial adult myoclonic epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAPGEF2 Rap guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7 OMIM
ClinVar
PMID:25741868 NCBI chr 8:48,183,518...48,277,476
Ensembl chr 8:48,021,604...48,277,454
JBrowse link
familial encephalopathy with neuroserpin inclusion bodies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies ClinVar PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532 NCBI chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895
JBrowse link
G SERPINB7 serpin family B member 7 ISO RGD PMID:16782060 RGD:7207386 NCBI chr 1:157,953,872...157,999,242
Ensembl chr 1:157,953,877...157,998,842
JBrowse link
G SERPINI1 serpin family I member 1 ISO ClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies OMIM
ClinVar
PMID:9536098 PMID:11138927 PMID:11880376 PMID:12103288 PMID:15090543 More... NCBI chr13:106,559,326...106,636,930
Ensembl chr13:106,559,736...106,658,110
JBrowse link
Familial Myoclonus 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Myoclonus, familial, 2 OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:27875746 PMID:28492532 PMID:29726066 More... NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543
JBrowse link
idiopathic generalized epilepsy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN2 chloride voltage-gated channel 2 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 11 ClinVar
OMIM
PMID:1521363 PMID:12612585 PMID:15252188 PMID:15505175 PMID:16199547 More... NCBI chr13:122,234,731...122,249,889
Ensembl chr13:122,234,736...122,249,867
JBrowse link
idiopathic generalized epilepsy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 ClinVar
OMIM
PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 More... NCBI chr16:61,656,583...61,723,428
Ensembl chr16:61,656,587...61,723,119
JBrowse link
idiopathic generalized epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25326635 PMID:25741868 NCBI chr 1:142,803,697...142,937,124
Ensembl chr 1:142,803,701...142,937,123
JBrowse link
G EFHC1 EF-hand domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:46,244,915...46,320,261
Ensembl chr 7:46,239,230...46,348,667
JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25741868 NCBI chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160
JBrowse link
Infantile Polymyoclonus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Infantile polymyoclonus ClinVar PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 More... NCBI chr16:79,838,442...79,862,956
Ensembl chr16:79,834,044...79,862,524
JBrowse link
juvenile myoclonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRD2 bromodomain containing 2 ISO DNA:SNPs:promoter (human) RGD PMID:12830434 RGD:1358444 NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,150,564...25,162,584
JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr12:26,838,633...26,912,344
Ensembl chr12:26,844,079...26,912,110
JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:402,801...455,691
Ensembl chr15:186,434...459,856
JBrowse link
G CAPRIN1 cell cycle associated protein 1 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:25741868 PMID:35979925 NCBI chr 2:26,830,987...26,875,425
Ensembl chr 2:26,830,267...26,875,357
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:80,673,072...80,692,256
Ensembl chr15:80,673,067...80,692,208
JBrowse link
G EFHC1 EF-hand domain containing 1 susceptibility ISO ClinVar Annotator: match by term: EJM1 | ClinVar Annotator: match by term: Janz syndrome | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy | ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1 OMIM
ClinVar
PMID:8737649 PMID:9536098 PMID:12439895 PMID:15258581 PMID:16199547 More... NCBI chr 7:46,244,915...46,320,261
Ensembl chr 7:46,239,230...46,348,667
JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr16:61,656,583...61,723,428
Ensembl chr16:61,656,587...61,723,119
JBrowse link
G HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:27899157 PMID:28492532 PMID:33468338 PMID:35432193 PMID:36110220 More... NCBI chr10:25,822,913...25,866,871
Ensembl chr10:25,822,913...25,866,871
JBrowse link
G JRK Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 4:1,476,298...1,493,597
Ensembl chr 4:1,490,800...1,492,356
JBrowse link
juvenile myoclonic epilepsy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CILK1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: CILK1-related condition ClinVar
OMIM
PMID:25741868 PMID:28492532 NCBI chr 7:46,658,671...46,723,286
Ensembl chr 7:46,658,681...46,723,585
JBrowse link
Lafora disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXO30 F-box protein 30 ISO ClinVar Annotator: match by term: Lafora disease ClinVar PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 More... NCBI chr 1:19,806,363...19,893,350
Ensembl chr 1:19,806,765...19,893,339
JBrowse link
G NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Epilepsy progressive myoclonic 2 | ClinVar Annotator: match by term: Lafora disease ClinVar PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16021330 More... NCBI chr 7:13,816,243...13,817,644
Ensembl chr 7:13,816,246...13,817,644
JBrowse link
G TPMT thiopurine S-methyltransferase ISO ClinVar Annotator: match by term: Lafora disease ClinVar PMID:15781812 PMID:17389303 PMID:23317923 PMID:28492532 NCBI chr 7:13,821,656...13,846,107
Ensembl chr 7:13,820,866...13,846,012
JBrowse link
MERRF Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,121
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221
G MT-ND5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: MERRF syndrome ClinVar PMID:15767514 PMID:16816025 PMID:17400793 PMID:18332249 PMID:25741868 NCBI chr MT:12,935...14,755
Ensembl chr MT:12,935...14,755
JBrowse link
Myoclonic Epilepsies 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: Generalized myoclonic seizures ClinVar PMID:10888601 PMID:17188615 PMID:18524658 PMID:20127976 PMID:22180458 More... NCBI chr 5:8,027,799...8,045,480
Ensembl chr 5:8,025,508...8,047,603
JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
JBrowse link
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641
JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar NCBI chr 7:85,980,759...86,107,886
Ensembl chr 7:85,983,837...86,106,938
JBrowse link
G CHRNA2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: myoclonic epilepsy ClinVar PMID:28492532 NCBI chr14:11,193,732...11,204,334
Ensembl chr14:11,195,228...11,207,650
JBrowse link
G CSTB cystatin B ISO ClinVar Annotator: match by term: Myoclonus epilepsy ClinVar PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 More... NCBI chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646
JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,309,630...66,310,166
JBrowse link
G FBXO30 F-box protein 30 ISO ClinVar Annotator: match by term: Myoclonus epilepsy ClinVar PMID:9771710 PMID:9931343 PMID:11175283 PMID:12019207 PMID:14532330 More... NCBI chr 1:19,806,363...19,893,350
Ensembl chr 1:19,806,765...19,893,339
JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917
JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Myoclonus epilepsy ClinVar PMID:16199547 PMID:21549339 PMID:25326637 PMID:25741868 PMID:28492532 More... NCBI chr12:17,768,082...17,799,313
Ensembl chr12:17,768,111...17,789,315
JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Myoclonic absence seizure ClinVar PMID:25741868 PMID:28492532 NCBI chr10:17,475,266...17,497,060
Ensembl chr10:17,477,902...17,497,030
JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,350,606...66,416,834
Ensembl chr13:66,350,606...66,416,827
JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Myoclonic absence seizure ClinVar PMID:25741868 PMID:26477325 PMID:28492532 PMID:28806457 PMID:29264397 More... NCBI chr17:51,032,163...51,152,566
Ensembl chr17:51,039,987...51,142,644
JBrowse link
G LMNB2 lamin B2 ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:28492532 NCBI chr 2:76,125,932...76,146,564
Ensembl chr 2:76,125,927...76,146,558
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO DNA:missense mutation: :m.14487T>C (p.M63V) (human) RGD PMID:20019223 RGD:6482231 NCBI chr MT:14,739...15,266
Ensembl chr MT:14,739...15,266
JBrowse link
G PMP22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17275665 NCBI chr12:58,679,773...58,734,195
Ensembl chr12:58,679,775...58,707,925
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:6088243 NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418
JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Myoclonus epilepsy | ClinVar Annotator: match by term: myoclonic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr13:45,620,372...45,968,295
Ensembl chr13:45,620,368...45,968,152
JBrowse link
G PRMT7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:25741868 PMID:33085104 NCBI chr 6:28,883,148...28,945,904
Ensembl chr 6:28,883,646...28,945,905
JBrowse link
G RAPGEF2 Rap guanine nucleotide exchange factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chr 8:48,183,518...48,277,476
Ensembl chr 8:48,021,604...48,277,454
JBrowse link
G SAMD12 sterile alpha motif domain containing 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chr 4:20,143,614...20,570,780
Ensembl chr 4:20,143,883...20,570,768
JBrowse link
G SCARB2 scavenger receptor class B member 2 ISO ClinVar Annotator: match by term: Myoclonus epilepsy ClinVar PMID:18308289 PMID:25741868 PMID:26467025 PMID:26836416 PMID:28492532 More... NCBI chr 8:71,838,395...71,910,461
Ensembl chr 8:71,838,397...71,940,607
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Myoclonic encephalopathy | ClinVar Annotator: match by term: myoclonic epilepsy ClinVar PMID:17347258 PMID:28492532 PMID:35571373 NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066
JBrowse link
G SEC13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,483,620...66,524,411
Ensembl chr13:66,480,169...66,524,384
JBrowse link
G SEMA6B semaphorin 6B ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25741868 NCBI chr 2:74,262,303...74,296,386
Ensembl chr 2:74,258,439...74,296,385
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25741868 NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867
JBrowse link
G SLC6A1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy | ClinVar Annotator: match by term: Myoclonus epilepsy ClinVar PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More... NCBI chr13:67,156,786...67,199,092
Ensembl chr13:67,179,765...67,197,107
JBrowse link
G SLC6A11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,998,113...67,115,918
Ensembl chr13:66,998,336...67,115,907
JBrowse link
G SLC7A6OS solute carrier family 7 member 6 opposite strand ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:25741868 PMID:33085104 NCBI chr 6:28,874,220...28,883,572
Ensembl chr 6:28,872,665...28,883,548
JBrowse link
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:167,363,348...167,596,892
Ensembl chr 6:167,363,347...167,595,835
JBrowse link
G STXBP1 syntaxin binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18469812 PMID:29929108 NCBI chr 1:268,116,124...268,205,805
Ensembl chr 1:268,116,120...268,205,778
JBrowse link
G TATDN2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,421,472...66,441,978
Ensembl chr13:66,422,345...66,441,980
JBrowse link
G TNRC6A trinucleotide repeat containing adaptor 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
JBrowse link
Myoclonic Epilepsy of Lafora 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXO30 F-box protein 30 ISO ClinVar Annotator: match by term: EPM2A-related condition | ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1 OMIM
ClinVar
PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11739371 More... NCBI chr 1:19,806,363...19,893,350
Ensembl chr 1:19,806,765...19,893,339
JBrowse link
G NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1 ClinVar PMID:25741868 NCBI chr 7:13,816,243...13,817,644
Ensembl chr 7:13,816,246...13,817,644
JBrowse link
Myoclonic Epilepsy of Lafora 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b | ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 2 OMIM
ClinVar
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16134145 More... NCBI chr 7:13,816,243...13,817,644
Ensembl chr 7:13,816,246...13,817,644
JBrowse link
Myoclonic Epilepsy, Familial Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNF cyclin F ISO ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr 3:39,585,597...39,603,088
Ensembl chr 3:39,585,607...39,603,079
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,734
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy ClinVar PMID:25326637 PMID:28492532 NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083
JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy OMIM
ClinVar
PMID:10574461 PMID:10741954 PMID:18414213 PMID:20727515 PMID:20797691 More... NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
JBrowse link
myoclonic-atonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC4 actin related protein 2/3 complex subunit 4 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,075,926...66,093,986
Ensembl chr13:66,056,890...66,123,977
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 6:49,905,851...49,927,437
Ensembl chr 6:49,905,847...49,927,633
JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
JBrowse link
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641
JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,021,047...66,037,446
Ensembl chr13:66,021,325...66,037,445
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 More... NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
JBrowse link
G CAMK1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,044,713...66,055,290
Ensembl chr13:66,044,720...66,055,295
JBrowse link
G CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:43,128,938...43,146,777
Ensembl chr  X:43,134,275...43,146,775
JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset ClinVar PMID:23708187 PMID:24207121 PMID:25741868 PMID:25783594 PMID:28492532 More... NCBI chr 7:85,980,759...86,107,886
Ensembl chr 7:85,983,837...86,106,938
JBrowse link
G CIDEC cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,141,836...66,149,801
Ensembl chr13:66,141,839...66,149,703
JBrowse link
G CPNE9 copine family member 9 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:65,994,369...66,019,080
Ensembl chr13:65,995,534...66,019,077
JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,194,795...66,203,419
Ensembl chr13:66,194,865...66,203,412
JBrowse link
G DNM1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chr 1:268,653,045...268,702,233
Ensembl chr 1:268,653,070...268,702,222
JBrowse link
G EMC3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,221,844...66,241,963
Ensembl chr13:66,217,970...66,241,935
JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433
JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,309,350...66,312,965
Ensembl chr13:66,309,630...66,310,166
JBrowse link
G FGF12 fibroblast growth factor 12 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 More... NCBI chr13:129,237,500...129,817,992
Ensembl chr13:129,240,083...129,817,911
JBrowse link
G FMR1 Fragile X messenger ribonucleoprotein 1 ISO protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:120,361,232...120,400,282
Ensembl chr  X:120,361,367...120,399,831
JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,442,106...66,453,576
Ensembl chr13:66,445,992...66,452,917
JBrowse link
G IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,179,298...66,194,750 JBrowse link
G IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,164,492...66,177,967 JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:46,011,386...46,094,978
Ensembl chr  X:46,011,388...46,094,817
JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,350,606...66,416,834
Ensembl chr13:66,350,606...66,416,827
JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,154,855...66,158,329 JBrowse link
G LIMK1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar NCBI chr 3:11,252,820...11,279,286
Ensembl chr 3:11,252,648...11,279,284
JBrowse link
G MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:65,948,520...65,994,231
Ensembl chr13:65,948,544...65,994,820
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,038,669...66,045,478 JBrowse link
G PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chr14:108,038,396...108,303,942
Ensembl chr14:108,039,431...108,303,929
JBrowse link
G PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:43,147,473...43,150,350 JBrowse link
G PRRT3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,200,400...66,211,595
Ensembl chr13:66,200,797...66,211,449
JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chr 7:64,140,977...64,372,683
Ensembl chr 7:64,141,014...64,372,694
JBrowse link
G RBFOX1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 3:34,938,703...37,209,772
Ensembl chr 3:34,939,573...37,300,810
JBrowse link
G RPUSD3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,126,126...66,133,774
Ensembl chr13:66,126,124...66,133,747
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More... NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 PMID:37845033 NCBI chr 6:44,597,461...44,607,488
Ensembl chr 6:44,597,482...44,607,481
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood ClinVar PMID:25741868 NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543
JBrowse link
G SEC13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,483,620...66,524,411
Ensembl chr13:66,480,169...66,524,384
JBrowse link
G SLC13A5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More... NCBI chr12:50,679,900...50,710,985
Ensembl chr12:50,680,444...50,705,261
JBrowse link
G SLC6A1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
OMIM
ClinVar
PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More... NCBI chr13:67,156,786...67,199,092
Ensembl chr13:67,179,765...67,197,107
JBrowse link
G SLC6A11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,998,113...67,115,918
Ensembl chr13:66,998,336...67,115,907
JBrowse link
G SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 9:66,838,062...67,117,315
Ensembl chr 9:66,838,123...67,117,315
JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 More... NCBI chr 1:268,116,124...268,205,805
Ensembl chr 1:268,116,120...268,205,778
JBrowse link
G TADA3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,067,623...66,080,170
Ensembl chr13:66,067,632...66,080,023
JBrowse link
G TATDN2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,421,472...66,441,978
Ensembl chr13:66,422,345...66,441,980
JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) RGD PMID:23526554 RGD:11537471 NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
JBrowse link
G TTLL3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,094,069...66,123,984
Ensembl chr13:66,056,890...66,123,977
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:43,150,691...43,155,981
Ensembl chr  X:43,147,477...43,156,234
JBrowse link
Neonatal Intractable Myoclonus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF5A kinesin family member 5A susceptibility ISO ClinVar Annotator: match by term: KIF5A-related intractable neonatal myoclonus | ClinVar Annotator: match by term: Myoclonus, intractable, neonatal ClinVar
OMIM
PMID:18500496 PMID:18853458 PMID:21623771 PMID:22552817 PMID:22714410 More... NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973
JBrowse link
NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED11 mediator complex subunit 11 ISO ClinVar Annotator: match by term: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities OMIM
ClinVar
PMID:36001086 NCBI chr12:52,150,535...52,152,366
Ensembl chr12:52,150,448...52,152,204
JBrowse link
Opsoclonus-Myoclonus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:1318289 NCBI chr 3:113,661,712...113,668,558
Ensembl chr 3:113,661,004...113,670,418
JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta ISO ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome ClinVar NCBI chr 3:22,832,259...22,902,592
Ensembl chr 3:22,832,262...22,902,063
JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome ClinVar PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 More... NCBI chr16:79,838,442...79,862,956
Ensembl chr16:79,834,044...79,862,524
JBrowse link
Progressive Myoclonic Epilepsy 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b ClinVar PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16311711 More... NCBI chr 7:13,816,243...13,817,644
Ensembl chr 7:13,816,246...13,817,644
JBrowse link
progressive myoclonus epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,561,897...205,628,428
Ensembl chr13:205,561,951...205,628,425
JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,746,915...207,791,809
Ensembl chr13:207,691,174...207,791,802
JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 6:97,200,890...97,234,577
Ensembl chr 6:97,200,922...97,235,366
JBrowse link
G AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,803,219...206,906,363
Ensembl chr13:206,884,538...206,906,353
JBrowse link
G AIRE autoimmune regulator ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,148,401...207,158,355
Ensembl chr13:207,148,401...207,158,346
JBrowse link
G ART3 ADP-ribosyltransferase 3 (inactive) ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,673,799...71,795,332
Ensembl chr 8:71,673,799...71,795,343
JBrowse link
G ATN1 atrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10814707 NCBI chr 5:63,782,159...63,795,648
Ensembl chr 5:63,782,162...63,795,648
JBrowse link
G C2CD2 C2 calcium dependent domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,248,991...205,313,868
Ensembl chr13:205,246,716...205,313,717
JBrowse link
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,205,942...206,231,363
Ensembl chr13:206,205,946...206,230,248
JBrowse link
G CCDC158 coiled-coil domain containing 158 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,990,113...72,088,966
Ensembl chr 8:71,990,119...72,088,829
JBrowse link
G CDKL2 cyclin dependent kinase like 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,231,148...71,260,902
Ensembl chr 8:71,231,152...71,260,815
JBrowse link
G CFAP410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,196,884...207,204,741
Ensembl chr13:207,196,117...207,204,719
JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:85,980,759...86,107,886
Ensembl chr 7:85,983,837...86,106,938
JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:27843123 More... NCBI chr 3:18,433,564...18,450,296
Ensembl chr 3:18,433,836...18,450,290
JBrowse link
G CLN5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:18414213 PMID:24767253 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:49,105,822...49,128,425
Ensembl chr11:49,105,878...49,129,886
JBrowse link
G CLN6 CLN6 transmembrane ER protein ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:25741868 NCBI chr 1:166,107,895...166,126,054
Ensembl chr 1:166,107,228...166,126,808
JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,907,835...207,984,082
Ensembl chr13:207,940,948...207,982,938
JBrowse link
G COL6A2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532
G CRYAA crystallin alpha A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,293,877...206,297,050
Ensembl chr13:206,293,849...206,297,015
JBrowse link
G CSTB cystatin B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646
JBrowse link
G CUNH21orf58 chromosome unknown C21orf58 homolog ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532
G CXCL10 C-X-C motif chemokine ligand 10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,693,641...71,695,948
Ensembl chr 8:71,693,339...71,695,948
JBrowse link
G CXCL11 C-X-C motif chemokine ligand 11 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,713,790...71,725,669
Ensembl chr 8:71,713,803...71,725,674
JBrowse link
G CXCL9 C-X-C motif chemokine ligand 9 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,665,541...71,670,236
Ensembl chr 8:71,663,501...71,670,271
JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr17:62,754,630...62,780,470
Ensembl chr17:62,754,802...62,780,468
JBrowse link
G DNMT3L DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,119,025...207,141,990
Ensembl chr13:207,119,051...207,132,538
JBrowse link
G FAM47E family with sequence similarity 47 member E ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,940,297...71,965,843
Ensembl chr 8:71,940,299...71,961,432
JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:18414213 PMID:24767253 PMID:25741868 PMID:28492532 NCBI chr11:49,131,663...49,151,380
Ensembl chr11:49,131,665...49,151,009
JBrowse link
G FBXO30 F-box protein 30 ISO ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:9536098 PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 More... NCBI chr 1:19,806,363...19,893,350
Ensembl chr 1:19,806,765...19,893,339
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532
G G3BP2 G3BP stress granule assembly factor 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,273,125...71,363,474
Ensembl chr 8:71,273,126...71,363,410
JBrowse link
G GATD3 glutamine amidotransferase class 1 domain containing 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,042,929...207,051,814
Ensembl chr13:207,042,952...207,056,770
JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19057520 PMID:21549339 More... NCBI chr12:17,768,082...17,799,313
Ensembl chr12:17,768,111...17,789,315
JBrowse link
G HSF2BP heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,545,353...206,629,151
Ensembl chr13:206,545,354...206,629,156
JBrowse link
G ICOSLG inducible T cell costimulator ligand ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,106,202...207,115,886 JBrowse link
G ITGB2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,514,281...207,544,108
Ensembl chr13:207,512,950...207,544,107
JBrowse link
G KCNC1 potassium voltage-gated channel subfamily C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 2:41,362,208...41,407,935
Ensembl chr 2:41,362,347...41,408,127
JBrowse link
G KCTD7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar NCBI chr 3:16,382,333...16,393,861
Ensembl chr 3:16,385,006...16,393,841
JBrowse link
G LMNB2 lamin B2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:76,125,932...76,146,564
Ensembl chr 2:76,125,927...76,146,558
JBrowse link
G LOC100518807 keratin-associated protein 10-12 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:204,987,662...204,988,803 JBrowse link
G LOC100622826 keratin-associated protein 10-3-like ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,403,140...207,404,529 JBrowse link
G LOC100623720 collagen alpha-1(VI) chain ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:208,295,245...208,321,789
Ensembl chr13:208,295,451...208,313,127
JBrowse link
G LOC106508044 keratin-associated protein 12-1-like ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,393,361...207,394,154 JBrowse link
G LRRC3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,270,099...207,275,901
Ensembl chr13:207,271,416...207,272,189
JBrowse link
G LSS lanosterol synthase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532
G MCM3AP minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532
G MFSD8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:28492532 NCBI chr 8:96,925,063...96,972,390
Ensembl chr 8:96,925,081...96,972,383
JBrowse link
G NAAA N-acylethanolamine acid amidase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,573,783...71,603,256
Ensembl chr 8:71,573,788...71,603,338
JBrowse link
G NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,111,337...206,123,987 JBrowse link
G NEU1 neuraminidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 7:23,953,721...23,958,659
Ensembl chr 7:23,953,499...23,958,638
JBrowse link
G NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 7:13,816,243...13,817,644
Ensembl chr 7:13,816,246...13,817,644
JBrowse link
G NUP54 nucleoporin 54 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,792,153...71,833,180
Ensembl chr 8:71,792,155...71,833,157
JBrowse link
G ODAPH odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,215,091...71,225,787
Ensembl chr 8:71,215,152...71,226,319
JBrowse link
G OPTN optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr10:48,532,029...48,582,952
Ensembl chr10:48,530,843...48,582,860
JBrowse link
G PCBP3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:208,060,949...208,259,368
Ensembl chr13:208,094,877...208,259,369
JBrowse link
G PCNT pericentrin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532
G PDE9A phosphodiesterase 9A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,938,342...206,034,981
Ensembl chr13:205,938,348...206,034,976
JBrowse link
G PDXK pyridoxal kinase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,676,905...206,699,047
Ensembl chr13:206,676,730...206,703,326
JBrowse link
G PFKL phosphofructokinase, liver type ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,167,287...207,191,688
Ensembl chr13:207,167,281...207,191,671
JBrowse link
G PKNOX1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,159,264...206,195,471
Ensembl chr13:206,167,156...206,195,468
JBrowse link
G POFUT2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,801,101...207,818,138 JBrowse link
G PPEF2 protein phosphatase with EF-hand domain 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,519,873...71,555,977
Ensembl chr 8:71,519,274...71,573,563
JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:9425237 PMID:9664077 PMID:9733046 PMID:10649502 PMID:10679943 More... NCBI chr 6:95,840,906...95,860,858
Ensembl chr 6:95,840,908...95,860,858
JBrowse link
G PRDM15 PR/SET domain 15 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,174,356...205,241,562
Ensembl chr13:205,173,517...205,241,490
JBrowse link
G PRDM8 PR/SET domain 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:137,604,805...137,611,389
Ensembl chr 8:137,605,600...137,612,651
JBrowse link
G PRICKLE1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: PME
ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar PMID:18414213 PMID:20301774 PMID:21901791 PMID:25741868 PMID:26467025 More... NCBI chr 5:73,707,026...73,826,529
Ensembl chr 5:73,707,050...73,826,430
JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:21276947 PMID:23711981 PMID:25741868 PMID:26467025 PMID:26942291 More... NCBI chr13:45,620,372...45,968,295
Ensembl chr13:45,620,368...45,968,152
JBrowse link
G PRNP prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr17:13,694,195...13,705,126
Ensembl chr17:13,694,190...13,705,124
JBrowse link
G PTTG1IP PTTG1 interacting protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,493,656...207,507,089
Ensembl chr13:207,493,659...207,499,867
JBrowse link
G PWP2 PWP2 small subunit processome component ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,015,047...207,031,752
Ensembl chr13:207,015,125...207,031,879
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,127,239...205,153,000
Ensembl chr13:205,127,244...205,153,005
JBrowse link
G RRP1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,722,591...206,736,000
Ensembl chr13:206,722,596...206,735,997
JBrowse link
G RRP1B ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,629,176...206,653,374
Ensembl chr13:206,629,204...206,651,123
JBrowse link
G RSPH1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,808,923...205,827,098
Ensembl chr13:205,808,671...205,827,213
JBrowse link
G SACS sacsin molecular chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr11:2,382,406...2,455,756
Ensembl chr11:2,382,906...2,442,316
JBrowse link
G SCARB2 scavenger receptor class B member 2 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Familial progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy
ClinVar Annotator: match by term: Familial progressive myoclonic epilepsy | ClinVar Annotator: match by term: PME | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy
ClinVar PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 More... NCBI chr 8:71,838,395...71,910,461
Ensembl chr 8:71,838,397...71,940,607
JBrowse link
G SDAD1 SDA1 domain containing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,612,591...71,646,852
Ensembl chr 8:71,613,174...71,646,779
JBrowse link
G SERPINI1 serpin family I member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr13:106,559,326...106,636,930
Ensembl chr13:106,559,736...106,658,110
JBrowse link
G SHROOM3 shroom family member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:72,097,561...72,443,869 JBrowse link
G SIK1 salt inducible kinase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,454,695...206,465,802
Ensembl chr13:206,454,718...206,465,807
JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675
JBrowse link
G SLC37A1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,826,948...205,901,824
Ensembl chr13:205,843,095...205,898,586
JBrowse link
G SLX9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,560,855...207,588,502
Ensembl chr13:207,560,990...207,588,501
JBrowse link
G SPATC1L spermatogenesis and centriole associated 1 like ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532
G STBD1 starch binding domain 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,982,987...71,987,880 JBrowse link
G SUMO3 small ubiquitin like modifier 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,475,303...207,484,362
Ensembl chr13:207,476,441...207,484,250
JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
JBrowse link
G TFF1 trefoil factor 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,687,558...205,691,512
Ensembl chr13:205,687,560...205,691,460
JBrowse link
G TFF2 trefoil factor 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,669,014...205,672,319
Ensembl chr13:205,669,014...205,672,324
JBrowse link
G TFF3 trefoil factor 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,641,038...205,644,333
Ensembl chr13:205,641,038...205,644,333
JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,707,501...205,733,037
Ensembl chr13:205,709,663...205,732,824
JBrowse link
G TPP1 tripeptidyl peptidase 1 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:3,135,580...3,143,408
Ensembl chr 9:3,135,642...3,143,404
JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,936,311...207,013,112
Ensembl chr13:206,936,333...207,013,102
JBrowse link
G TRPM2 transient receptor potential cation channel subfamily M member 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,212,339...207,263,313
Ensembl chr13:207,212,457...207,262,064
JBrowse link
G TSC1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17484760 NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951
JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,285,878...207,412,523
Ensembl chr13:207,285,886...207,412,511
JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,244,772...206,257,697
Ensembl chr13:206,244,773...206,257,702
JBrowse link
G UBASH3A ubiquitin associated and SH3 domain containing A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,744,395...205,786,484
Ensembl chr13:205,744,393...205,787,056
JBrowse link
G UBE2G2 ubiquitin conjugating enzyme E2 G2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:207,444,529...207,471,826
Ensembl chr13:207,444,533...207,471,796
JBrowse link
G UMODL1 uromodulin like 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,425,338...205,494,492
Ensembl chr13:205,425,454...205,491,629
JBrowse link
G USO1 USO1 vesicle transport factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 8:71,363,627...71,451,258
Ensembl chr 8:71,363,614...71,452,939
JBrowse link
G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:206,074,943...206,094,713
Ensembl chr13:206,074,945...206,094,297
JBrowse link
G WNT9B Wnt family member 9B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:21549339 PMID:28492532 NCBI chr12:17,709,046...17,733,434
Ensembl chr12:17,709,046...17,733,431
JBrowse link
G YBEY ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532
G ZBTB21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr13:205,345,675...205,365,151
Ensembl chr13:205,349,805...205,353,008
JBrowse link
progressive myoclonus epilepsy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Early-onset Lafora body disease ClinVar PMID:28492532 NCBI chr 8:137,728,849...137,878,336
Ensembl chr 8:137,618,616...137,878,333
JBrowse link
G PRDM8 PR/SET domain 8 ISO ClinVar Annotator: match by term: Early-onset Lafora body disease | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 10 OMIM
ClinVar
PMID:22961547 PMID:25741868 PMID:28492532 NCBI chr 8:137,604,805...137,611,389
Ensembl chr 8:137,605,600...137,612,651
JBrowse link
Progressive Myoclonus Epilepsy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SEMA6B semaphorin 6B ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 11 | ClinVar Annotator: match by term: SEMA6B-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:32169168 PMID:35604360 NCBI chr 2:74,262,303...74,296,386
Ensembl chr 2:74,258,439...74,296,385
JBrowse link
Progressive Myoclonus Epilepsy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRMT7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 ClinVar PMID:25741868 PMID:33085104 NCBI chr 6:28,883,148...28,945,904
Ensembl chr 6:28,883,646...28,945,905
JBrowse link
G SLC7A6OS solute carrier family 7 member 6 opposite strand ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 OMIM
ClinVar
PMID:25741868 PMID:33085104 NCBI chr 6:28,874,220...28,883,572
Ensembl chr 6:28,872,665...28,883,548
JBrowse link
progressive myoclonus epilepsy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSTB cystatin B ISO OMIM NCBI chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646
JBrowse link
progressive myoclonus epilepsy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRICKLE1 prickle planar cell polarity protein 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B | ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18976727 PMID:20301774 More... NCBI chr 5:73,707,026...73,826,529
Ensembl chr 5:73,707,050...73,826,430
JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B ClinVar PMID:25401298 PMID:25741868 PMID:27281533 PMID:28492532 PMID:30335140 NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
JBrowse link
progressive myoclonus epilepsy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:18,433,564...18,450,296
Ensembl chr 3:18,433,836...18,450,290
JBrowse link
G KCTD7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS
ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 | ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 3, with intracellular inclusions
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17455289 PMID:17576681 PMID:18414213 More... NCBI chr 3:16,382,333...16,393,861
Ensembl chr 3:16,385,006...16,393,841
JBrowse link
progressive myoclonus epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNH8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome ClinVar PMID:25741868 NCBI chr13:6,104,382...6,533,505
Ensembl chr13:6,104,537...6,532,592
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome ClinVar PMID:25741868 NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690
JBrowse link
G SCARB2 scavenger receptor class B member 2 ISO ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome | ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 4, with or without renal failure | ClinVar Annotator: match by term: SCARB2-related condition OMIM
ClinVar
PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 More... NCBI chr 8:71,838,395...71,910,461
Ensembl chr 8:71,838,397...71,940,607
JBrowse link
progressive myoclonus epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr 7:54,811,024...54,889,992
Ensembl chr 7:54,811,027...54,889,998
JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 ClinVar PMID:23621914 PMID:24033266 PMID:25142776 PMID:25326637 PMID:25741868 More... NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5
ClinVar PMID:632821 PMID:1539879 PMID:1858914 PMID:7847370 PMID:11431686 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,157...54,906,844
JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 ClinVar PMID:9536098 PMID:17576681 PMID:21276947 PMID:23711981 PMID:24088041 More... NCBI chr13:45,620,372...45,968,295
Ensembl chr13:45,620,368...45,968,152
JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 ClinVar PMID:21689831 PMID:25741868 PMID:28492532 NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
JBrowse link
progressive myoclonus epilepsy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GOSR2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: GOSR2-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 OMIM
ClinVar
PMID:16199547 PMID:19057520 PMID:21549339 PMID:23449775 PMID:24458321 More... NCBI chr12:17,768,082...17,799,313
Ensembl chr12:17,768,111...17,789,315
JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 ClinVar PMID:22200994 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 4:89,246,958...89,257,090
Ensembl chr 4:89,246,960...89,257,085
JBrowse link
progressive myoclonus epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSRP3 cysteine and glycine rich protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,219,288...40,240,614
Ensembl chr 2:40,215,353...40,240,616
JBrowse link
G GTF2H1 general transcription factor IIH subunit 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,857,720...40,900,591
Ensembl chr 2:40,857,723...40,900,624
JBrowse link
G HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,906,785...40,938,847
Ensembl chr 2:40,906,806...40,941,944
JBrowse link
G IGSF22 immunoglobulin superfamily member 22 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,524,004...40,544,231 JBrowse link
G KCNC1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: KCNC1-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25363768 PMID:25401298 PMID:25741868 More... NCBI chr 2:41,362,208...41,407,935
Ensembl chr 2:41,362,347...41,408,127
JBrowse link
G LDHA lactate dehydrogenase A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,814,163...40,827,284
Ensembl chr 2:40,814,169...40,826,715
JBrowse link
G LDHC lactate dehydrogenase C ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,748,567...40,810,114
Ensembl chr 2:40,748,863...40,809,692
JBrowse link
G MRGPRX2 MAS related GPR family member X2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,372,994...40,376,693 JBrowse link
G MYOD1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:41,422,522...41,424,236
Ensembl chr 2:41,415,775...41,424,435
JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:41,497,201...41,590,564
Ensembl chr 2:41,497,200...41,584,948
JBrowse link
G PTPN5 protein tyrosine phosphatase non-receptor type 5 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,458,865...40,521,470
Ensembl chr 2:40,459,049...40,521,461
JBrowse link
G SAA2 serum amyloid A-2 protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,972,797...40,976,222 JBrowse link
G SAA4 serum amyloid A-4 protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,986,869...41,003,059 JBrowse link
G SAAL1 serum amyloid A like 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:41,028,673...41,054,578
Ensembl chr 2:41,028,693...41,056,420
JBrowse link
G SERGEF secretion regulating guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:41,114,174...41,356,043
Ensembl chr 2:41,114,178...41,356,038
JBrowse link
G SPTY2D1 SPT2 chromatin protein domain containing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,581,816...40,604,040
Ensembl chr 2:40,582,984...40,604,038
JBrowse link
G TMEM86A transmembrane protein 86A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,545,773...40,550,838
Ensembl chr 2:40,545,776...40,550,843
JBrowse link
G TPH1 tryptophan hydroxylase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:41,075,623...41,109,005
Ensembl chr 2:41,075,628...41,109,437
JBrowse link
G TSG101 tumor susceptibility 101 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,673,187...40,720,681 JBrowse link
G UEVLD UEV and lactate/malate dehyrogenase domains ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,617,086...40,671,701
Ensembl chr 2:40,617,039...40,669,595
JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247
JBrowse link
G ZDHHC13 zinc finger DHHC-type palmitoyltransferase 13 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 2:40,251,511...40,310,455
Ensembl chr 2:40,251,246...40,310,455
JBrowse link
progressive myoclonus epilepsy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMC6 armadillo repeat containing 6 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,808,691...58,828,483
Ensembl chr 2:58,808,692...58,828,489
JBrowse link
G BORCS8 BLOC-1 related complex subunit 8 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,684,508...58,696,586
Ensembl chr 2:58,684,543...58,698,173
JBrowse link
G COMP cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:59,061,409...59,068,951
Ensembl chr 2:59,061,426...59,069,564
JBrowse link
G COPE COPI coat complex subunit epsilon ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,930,929...58,948,466
Ensembl chr 2:58,930,931...58,948,469
JBrowse link
G DDX49 DEAD-box helicase 49 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,922,985...58,930,710
Ensembl chr 2:58,922,988...58,930,716
JBrowse link
G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19243074 PMID:24033266 More... NCBI chr 2:58,972,918...58,976,294
Ensembl chr 2:58,951,726...58,974,672
JBrowse link
G HOMER3 homer scaffold protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,913,949...58,922,474
Ensembl chr 2:58,913,992...58,922,474
JBrowse link
G MEF2B myocyte enhancer factor 2B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,699,173...58,722,554
Ensembl chr 2:58,695,691...58,722,557
JBrowse link
G NR2C2AP nuclear receptor 2C2 associated protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,675,987...58,678,025
Ensembl chr 2:58,675,990...58,678,130
JBrowse link
G RFXANK regulatory factor X associated ankyrin containing protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,677,534...58,684,016
Ensembl chr 2:58,677,538...58,683,882
JBrowse link
G SLC25A42 solute carrier family 25 member 42 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,753,363...58,803,356
Ensembl chr 2:58,753,371...58,801,832
JBrowse link
G SUGP2 SURP and G-patch domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,828,009...58,865,859
Ensembl chr 2:58,828,251...58,865,852
JBrowse link
G TMEM161A transmembrane protein 161A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,728,738...58,744,939
Ensembl chr 2:58,728,813...58,744,937
JBrowse link
G UPF1 UPF1 RNA helicase and ATPase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 2:58,975,013...59,013,546
Ensembl chr 2:58,975,023...59,013,495
JBrowse link
progressive myoclonus epilepsy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD17A abhydrolase domain containing 17A, depalmitoylase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,658,073...76,666,561
Ensembl chr 2:76,658,068...76,666,552
JBrowse link
G ADAMTSL5 ADAMTS like 5 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,966,155...76,975,555
Ensembl chr 2:76,966,766...76,975,820
JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,628,626...76,634,282
Ensembl chr 2:76,628,633...76,634,262
JBrowse link
G AMH anti-Mullerian hormone ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,415,564...76,418,315
Ensembl chr 2:76,414,427...76,418,312
JBrowse link
G AP3D1 adaptor related protein complex 3 subunit delta 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,428,443...76,471,266
Ensembl chr 2:76,428,476...76,471,257
JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:77,005,706...77,034,583
Ensembl chr 2:77,005,706...77,034,561
JBrowse link
G ATP8B3 ATPase phospholipid transporting 8B3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,722,257...76,745,899
Ensembl chr 2:76,722,247...76,745,898
JBrowse link
G BTBD2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,538,538...76,559,928
Ensembl chr 2:76,538,523...76,559,919
JBrowse link
G C2H19orf25 chromosome 2 C19orf25 homolog ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,998,982...77,003,332
Ensembl chr 2:76,998,982...77,003,326
JBrowse link
G CSNK1G2 casein kinase 1 gamma 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,573,979...76,609,631
Ensembl chr 2:76,573,987...76,609,384
JBrowse link
G DIRAS1 DIRAS family GTPase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:75,921,145...75,927,231
Ensembl chr 2:75,908,509...75,929,151
JBrowse link
G DOT1L DOT1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,339,452...76,401,974
Ensembl chr 2:76,339,470...76,401,965
JBrowse link
G GADD45B growth arrest and DNA damage inducible beta ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,107,928...76,111,458
Ensembl chr 2:76,107,929...76,111,479
JBrowse link
G GNA11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:75,439,405...75,456,855
Ensembl chr 2:75,437,201...75,457,092
JBrowse link
G GNG7 G protein subunit gamma 7 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:75,929,877...76,083,557
Ensembl chr 2:76,039,656...76,083,555
JBrowse link
G IZUMO4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,472,227...76,475,227
Ensembl chr 2:76,472,231...76,475,170
JBrowse link
G JSRP1 junctional sarcoplasmic reticulum protein 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,418,508...76,422,405
Ensembl chr 2:76,418,320...76,422,263
JBrowse link
G KLF16 KLF transcription factor 16 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,680,219...76,690,823
Ensembl chr 2:76,680,020...76,690,841
JBrowse link
G LINGO3 leucine rich repeat and Ig domain containing 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,264,077...76,280,627
Ensembl chr 2:76,264,071...76,280,623
JBrowse link
G LMNB2 lamin B2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar
OMIM
PMID:9536098 PMID:16826530 PMID:17576681 PMID:22768673 PMID:22995991 More... NCBI chr 2:76,125,932...76,146,564
Ensembl chr 2:76,125,927...76,146,558
JBrowse link
G LOC100516355 zinc finger protein 77 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:75,742,538...75,767,725
Ensembl chr 2:75,742,827...75,767,708
JBrowse link
G LOC110259371 zinc finger protein 555-like ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:75,807,806...75,834,866
Ensembl chr 2:75,811,392...75,830,466
JBrowse link
G LSM7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,247,010...76,251,824
Ensembl chr 2:76,247,058...76,252,598
JBrowse link
G MBD3 methyl-CpG binding domain protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,913,880...76,923,435
Ensembl chr 2:76,906,644...76,923,432
JBrowse link
G MEX3D mex-3 RNA binding family member D ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,929,583...76,938,238
Ensembl chr 2:76,929,619...76,938,367
JBrowse link
G MKNK2 MAPK interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,510,302...76,522,885
Ensembl chr 2:76,510,303...76,522,883
JBrowse link
G MOB3A MOB kinase activator 3A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,475,397...76,495,015
Ensembl chr 2:76,475,530...76,496,060
JBrowse link
G OAZ1 ornithine decarboxylase antizyme 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,293,142...76,296,626
Ensembl chr 2:76,293,150...76,296,620
JBrowse link
G ONECUT3 one cut homeobox 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,751,070...76,769,812
Ensembl chr 2:76,750,069...76,769,812
JBrowse link
G PCSK4 proprotein convertase subtilisin/kexin type 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,982,806...76,996,507
Ensembl chr 2:76,989,544...76,997,766
JBrowse link
G PEAK3 PEAK family member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,285,163...76,291,295
Ensembl chr 2:76,285,882...76,291,290
JBrowse link
G PLEKHJ1 pleckstrin homology domain containing J1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,402,453...76,405,170
Ensembl chr 2:76,402,460...76,405,170
JBrowse link
G PLK5 polo like kinase 5 (inactive) ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,948,062...76,956,310 JBrowse link
G REEP6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,983,431...76,989,017 JBrowse link
G REXO1 RNA exonuclease 1 homolog ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,694,269...76,719,026
Ensembl chr 2:76,693,796...76,718,394
JBrowse link
G SCAMP4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,614,984...76,634,314
Ensembl chr 2:76,615,000...76,634,264
JBrowse link
G SF3A2 splicing factor 3a subunit 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,404,882...76,414,901
Ensembl chr 2:76,410,602...76,415,776
JBrowse link
G SGTA small glutamine rich tetratricopeptide repeat co-chaperone alpha ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:75,879,081...75,896,279
Ensembl chr 2:75,879,058...75,896,277
JBrowse link
G SLC39A3 solute carrier family 39 member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:75,908,451...75,916,877 JBrowse link
G SPPL2B signal peptide peptidase like 2B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,230,060...76,247,067
Ensembl chr 2:76,230,061...76,247,051
JBrowse link
G TCF3 transcription factor 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,859,079...76,906,275
Ensembl chr 2:76,859,089...76,898,351
JBrowse link
G THOP1 thimet oligopeptidase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:75,857,788...75,877,430
Ensembl chr 2:75,853,429...75,877,494
JBrowse link
G TIMM13 translocase of inner mitochondrial membrane 13 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,146,946...76,148,163
Ensembl chr 2:76,146,867...76,155,729
JBrowse link
G TLE2 TLE family member 2, transcriptional corepressor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:75,510,276...75,536,812
Ensembl chr 2:75,510,004...75,536,804
JBrowse link
G TLE5 TLE family member 5, transcriptional modulator ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:75,492,208...75,501,543
Ensembl chr 2:75,492,233...75,501,542
JBrowse link
G TLE6 TLE family member 6, subcortical maternal complex member ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:75,537,641...75,550,676 JBrowse link
G TMPRSS9 transmembrane serine protease 9 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,158,059...76,228,444
Ensembl chr 2:76,158,045...76,224,446
JBrowse link
G UQCR11 ubiquinol-cytochrome c reductase, complex III subunit XI ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:76,903,219...76,906,276
Ensembl chr 2:76,903,281...76,909,544
JBrowse link
G ZNF554 zinc finger protein 554 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 2:75,834,873...75,857,601
Ensembl chr 2:75,834,575...75,851,199
JBrowse link
spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASAH1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Hereditary myoclonus and progressive distal muscular atrophy | ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY | ClinVar Annotator: match by term: Spinal muscular atrophy with progressive myoclonic epilepsy OMIM
ClinVar
PMID:16199547 PMID:22703880 PMID:24033266 PMID:24164096 PMID:24355074 More... NCBI chr17:5,712,048...5,749,811
Ensembl chr17:5,712,058...5,758,821
JBrowse link
Unverricht-Lundborg syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSTB cystatin B ISO ClinVar Annotator: match by term: Unverricht-Lundborg syndrome OMIM
ClinVar
PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15430
    Pathological Conditions, Signs and Symptoms 12091
      Signs and Symptoms 10145
        Neurologic Manifestations 9826
          Dyskinesias 2137
            Myoclonus 403
              Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 0
              Familial Convulsive Disorder with Prenatal or Early Onset 0
              Familial Myoclonus 1 0
              Familial Myoclonus 2 1
              Feigenbaum Bergeron Richardson Syndrome 0
              Herrmann Syndrome 0
              Myoclonic Epilepsies + 398
              Myoclonic Nystagmus 0
              Myoclonus, Cerebellar Ataxia, and Deafness 0
              Neonatal Intractable Myoclonus 1
              Opsoclonus-Myoclonus Syndrome + 3
              Progressive External Ophthalmoplegia with Myoclonus 0
Path 2
Term Annotations click to browse term
  disease 15430
    disease of anatomical entity 15099
      nervous system disease 13251
        central nervous system disease 11841
          brain disease 11114
            movement disease 2509
              Dyskinesias 2137
                Myoclonus 403
                  Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 0
                  Familial Convulsive Disorder with Prenatal or Early Onset 0
                  Familial Myoclonus 1 0
                  Familial Myoclonus 2 1
                  Feigenbaum Bergeron Richardson Syndrome 0
                  Herrmann Syndrome 0
                  Myoclonic Epilepsies + 398
                  Myoclonic Nystagmus 0
                  Myoclonus, Cerebellar Ataxia, and Deafness 0
                  Neonatal Intractable Myoclonus 1
                  Opsoclonus-Myoclonus Syndrome + 3
                  Progressive External Ophthalmoplegia with Myoclonus 0
paths to the root