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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:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296
JBrowse link
G Scn2a sodium channel, voltage-gated, type II, alpha ISO ClinVar Annotator: match by term: Myoclonus ClinVar NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791
JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha ISO ClinVar Annotator: match by term: Myoclonus ClinVar PMID:25741868 PMID:28492532 NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Myoclonus ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536
JBrowse link
G Tnxb tenascin XB ISO ClinVar Annotator: match by term: Myoclonus ClinVar PMID:25741868 NCBI chr17:34,879,427...34,938,789
Ensembl chr17:34,879,431...34,938,789
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 6:124,719,507...124,733,450
Ensembl chr 6:124,719,507...124,733,487
Ensembl chr 6:124,719,507...124,733,487
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 7:141,018,026...141,027,477
Ensembl chr 7:141,018,026...141,023,938
JBrowse link
G Slc25a22 solute carrier family 25 (mitochondrial carrier, glutamate), member 22 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3
OMIM
CTD
ClinVar
PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25033742 More... NCBI chr 7:141,009,662...141,017,787
Ensembl chr 7:141,009,657...141,017,805
JBrowse link
Dravet syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cgn cingulin ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 3:94,667,376...94,695,036
Ensembl chr 3:94,667,376...94,693,826
JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor, subunit gamma 2 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar NCBI chr11:41,801,017...41,891,684
Ensembl chr11:41,801,030...41,891,684
JBrowse link
G Lysmd1 LysM, putative peptidoglycan-binding, domain containing 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 3:95,041,399...95,046,836
Ensembl chr 3:95,041,399...95,046,829
JBrowse link
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 3:94,882,042...94,914,248
Ensembl chr 3:94,882,042...94,914,154
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 3:94,965,841...95,014,241
Ensembl chr 3:94,965,841...95,014,241
JBrowse link
G Pogz pogo transposable element with ZNF domain ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 3:94,730,289...94,790,888
Ensembl chr 3:94,744,878...94,789,637
JBrowse link
G Psmb4 proteasome (prosome, macropain) subunit, beta type 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 3:94,791,635...94,794,269
Ensembl chr 3:94,791,404...94,794,272
JBrowse link
G Psmd4 proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 3:94,939,999...94,949,880
Ensembl chr 3:94,940,005...94,949,925
JBrowse link
G Rfx5 regulatory factor X, 5 (influences HLA class II expression) ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 3:94,861,355...94,868,685
Ensembl chr 3:94,861,386...94,868,872
JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha ISO
IAGP
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:607208
OMIM
ClinVar
MouseDO
PMID:1893009 PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 More... NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184
JBrowse link
G Scn1b sodium channel, voltage-gated, type I, beta ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 7:30,815,949...30,826,436
Ensembl chr 7:30,815,949...30,826,428
JBrowse link
G Scn2a sodium channel, voltage-gated, type II, alpha ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791
JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha 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 chr 2:66,310,424...66,465,456
Ensembl chr 2:66,310,424...66,465,306
JBrowse link
G Scnm1 sodium channel modifier 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 3:95,037,030...95,041,285
Ensembl chr 3:95,036,847...95,041,322
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 3:94,840,394...94,852,069
Ensembl chr 3:94,840,367...94,852,069
JBrowse link
G Snx27 sorting nexin family member 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 3:94,404,849...94,490,023
Ensembl chr 3:94,404,851...94,490,023
JBrowse link
G Tmod4 tropomodulin 4 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 3:95,030,110...95,036,520
Ensembl chr 3:95,031,787...95,036,520
JBrowse link
G Tnfaip8l2 tumor necrosis factor, alpha-induced protein 8-like 2 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 3:95,046,832...95,051,581
Ensembl chr 3:95,046,832...95,049,671
JBrowse link
G Tuft1 tuftelin 1 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25894286 PMID:28492532 NCBI chr 3:94,520,060...94,566,179
Ensembl chr 3:94,520,064...94,566,179
JBrowse link
G Vps72 vacuolar protein sorting 72 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 3:95,018,353...95,030,362
Ensembl chr 3:95,018,333...95,030,362
JBrowse link
G Zfp687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 3:94,901,726...94,923,259
Ensembl chr 3:94,913,901...94,922,759
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 chr17:24,441,518...24,470,333
Ensembl chr17:24,441,172...24,470,458
JBrowse link
G Diras1 DIRAS family, GTP-binding RAS-like 1 ISO Epilepsy, generalized myoclonic, with photosensitivity OMIA PMID:28223533 PMID:29194766 PMID:38003185 NCBI chr10:80,855,423...80,862,038
Ensembl chr10:80,855,423...80,861,496
JBrowse link
G Egr2 early growth response 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr10:67,370,334...67,383,354
Ensembl chr10:67,371,305...67,378,018
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, Severe ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26181491 More... NCBI chr10:66,932,189...67,092,105
Ensembl chr10:66,931,904...67,092,105
JBrowse link
G Kcnd2 potassium voltage-gated channel, Shal-related family, 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 chr 6:21,212,101...21,729,804
Ensembl chr 6:21,215,502...21,729,804
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 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
JBrowse link
G Nrbf2 nuclear receptor binding factor 2 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr10:67,102,463...67,121,076
Ensembl chr10:67,102,468...67,121,084
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile ClinVar PMID:25326637 PMID:28492532 NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702
JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha 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 chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184
JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 More... NCBI chr 2:66,310,424...66,465,456
Ensembl chr 2:66,310,424...66,465,306
JBrowse link
G Slc25a22 solute carrier family 25 (mitochondrial carrier, glutamate), 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 7:141,009,662...141,017,787
Ensembl chr 7:141,009,657...141,017,805
JBrowse link
G Snx27 sorting nexin family member 27 ISO ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:94,404,849...94,490,023
Ensembl chr 3:94,404,851...94,490,023
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 chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536
JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Early myoclonic encephalopathy ClinVar PMID:28492532 NCBI chr 6:21,771,390...21,879,557
Ensembl chr 6:21,771,394...21,852,514
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 chr15:98,847,728...98,851,382
Ensembl chr15:98,847,718...98,851,584
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr15:53,262,514...53,765,926
Ensembl chr15:53,317,206...53,765,933
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 adrenergic receptor, 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 2:127,205,099...127,209,141
Ensembl chr 2:127,205,128...127,209,141
JBrowse link
G Stard7 StAR related lipid transfer domain containing 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2
OMIM
CTD
ClinVar
PMID:25741868 NCBI chr 2:127,112,123...127,140,855
Ensembl chr 2:127,112,138...127,140,852
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr15:31,456,045...31,531,172
Ensembl chr15:31,456,037...31,531,199
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 chr16:19,959,803...20,051,323
Ensembl chr16:19,959,813...20,051,323
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 chr 1:134,343,116...134,361,089
Ensembl chr 1:134,343,116...134,361,089
JBrowse link
G Adora1 adenosine A1 receptor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:134,126,953...134,163,195
Ensembl chr 1:134,126,963...134,163,169
JBrowse link
G Arl8a ADP-ribosylation factor-like 8A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:135,074,572...135,084,007
Ensembl chr 1:135,074,562...135,084,007
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 chr 1:135,978,321...135,979,810
Ensembl chr 1:135,978,542...135,979,108
JBrowse link
G Atp2b4 ATPase, Ca++ transporting, plasma membrane 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:133,630,416...133,728,755
Ensembl chr 1:133,627,195...133,728,779
JBrowse link
G Avpr1b arginine vasopressin receptor 1B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:131,526,908...131,539,740
Ensembl chr 1:131,526,977...131,539,738
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 1:134,002,603...134,006,893
Ensembl chr 1:134,002,908...134,006,858
JBrowse link
G Cacna1s calcium channel, voltage-dependent, L type, alpha 1S subunit ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:135,980,549...136,047,268
Ensembl chr 1:135,980,488...136,047,560
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 chr 1:136,195,861...136,273,855
Ensembl chr 1:136,195,861...136,273,842
JBrowse link
G Cdk18 cyclin dependent kinase 18 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:132,041,285...132,067,433
Ensembl chr 1:132,039,975...132,067,422
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919
JBrowse link
G Chit1 chitinase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:134,038,980...134,079,279
Ensembl chr 1:134,038,980...134,079,278
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 1:132,437,163...132,470,989
Ensembl chr 1:132,437,165...132,470,994
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 chr 1:135,614,650...135,679,970
Ensembl chr 1:135,647,799...135,679,970
JBrowse link
G Ctse cathepsin E ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:131,566,052...131,603,245
Ensembl chr 1:131,566,044...131,603,243
JBrowse link
G Cyb5r1 cytochrome b5 reductase 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:134,333,519...134,339,476
Ensembl chr 1:134,333,297...134,339,478
JBrowse link
G Ddx59 DEAD box helicase 59 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:136,343,009...136,384,019
Ensembl chr 1:136,343,009...136,367,896
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 1:132,345,127...132,394,697
Ensembl chr 1:132,345,293...132,394,696
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 1:131,056,178...131,065,991
Ensembl chr 1:131,055,192...131,066,077
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 1:131,080,903...131,115,396
Ensembl chr 1:131,080,918...131,115,395
JBrowse link
G Elf3 E74-like factor 3 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:135,181,312...135,186,210
Ensembl chr 1:135,181,313...135,186,306
JBrowse link
G Elk4 ELK4, member of ETS oncogene family ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:131,935,129...131,954,186
Ensembl chr 1:131,935,345...131,960,350
JBrowse link
G Etnk2 ethanolamine kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:133,291,308...133,308,056
Ensembl chr 1:133,291,310...133,308,074
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 1:131,454,336...131,466,773
Ensembl chr 1:131,455,641...131,467,610
JBrowse link
G Fmod fibromodulin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:133,964,992...133,976,018
Ensembl chr 1:133,964,992...133,976,015
JBrowse link
G Golt1a golgi transport 1A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:133,237,561...133,250,764
Ensembl chr 1:133,237,538...133,250,764
Ensembl chr 1:133,237,538...133,250,764
JBrowse link
G Gpr25 G protein-coupled receptor 25 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:136,186,652...136,188,664
Ensembl chr 1:136,187,535...136,188,611
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 chr 1:135,087,988...135,095,419
Ensembl chr 1:135,087,972...135,095,419
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 chr 1:135,880,943...135,968,663
Ensembl chr 1:135,881,316...135,934,080
JBrowse link
G Ikbke inhibitor of kappaB kinase epsilon ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:131,182,337...131,207,339
Ensembl chr 1:131,182,080...131,207,344
JBrowse link
G Il10 interleukin 10 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
G Inava innate immunity activator ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:136,141,259...136,162,045
Ensembl chr 1:136,141,269...136,162,002
JBrowse link
G Ipo9 importin 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:135,310,050...135,358,260
Ensembl chr 1:135,310,050...135,358,237
JBrowse link
G Kdm5b lysine demethylase 5B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:134,487,916...134,560,621
Ensembl chr 1:134,487,909...134,563,023
JBrowse link
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:136,394,044...136,483,676
Ensembl chr 1:136,394,081...136,459,249
JBrowse link
G Kif21b kinesin family member 21B ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:136,059,128...136,105,739
Ensembl chr 1:136,059,127...136,105,736
JBrowse link
G Kiss1 KiSS-1 metastasis-suppressor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:133,249,625...133,257,460
Ensembl chr 1:133,237,565...133,257,460
Ensembl chr 1:133,237,565...133,257,460
JBrowse link
G Klhdc8a kelch domain containing 8A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:132,226,352...132,236,216
Ensembl chr 1:132,226,364...132,235,095
JBrowse link
G Klhl12 kelch-like 12 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:134,383,269...134,418,611
Ensembl chr 1:134,383,269...134,418,756
JBrowse link
G Lad1 ladinin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:135,746,336...135,761,079
Ensembl chr 1:135,746,336...135,761,080
JBrowse link
G Lax1 lymphocyte transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:133,606,767...133,620,760
Ensembl chr 1:133,606,829...133,617,846
JBrowse link
G Lemd1 LEM domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:132,118,361...132,185,120
Ensembl chr 1:132,119,169...132,186,965
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 chr 1:134,911,038...135,033,112
Ensembl chr 1:134,911,039...135,033,014
JBrowse link
G Lmod1 leiomodin 1 (smooth muscle) ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:135,252,551...135,295,803
Ensembl chr 1:135,252,545...135,295,803
JBrowse link
G Lrrn2 leucine rich repeat protein 2, neuronal ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:132,808,093...132,867,743
Ensembl chr 1:132,808,011...132,867,743
JBrowse link
G Mapkapk2 MAP kinase-activated protein kinase 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:130,981,437...131,025,580
Ensembl chr 1:130,981,437...131,025,563
JBrowse link
G Mdm4 transformed mouse 3T3 cell double minute 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:132,913,843...132,958,325
Ensembl chr 1:132,887,222...132,958,299
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 1:131,947,543...131,997,400
Ensembl chr 1:131,950,544...131,995,800
JBrowse link
G Mybph myosin binding protein H ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:134,121,159...134,128,975
Ensembl chr 1:134,121,186...134,128,970
JBrowse link
G Myog myogenin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:134,217,742...134,220,286
Ensembl chr 1:134,217,727...134,220,286
JBrowse link
G Nav1 neuron navigator 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:135,362,318...135,616,082
Ensembl chr 1:135,362,318...135,615,843
JBrowse link
G Nfasc neurofascin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:132,492,428...132,669,567
Ensembl chr 1:132,492,428...132,669,535
JBrowse link
G Nuak2 NUAK family, SNF1-like kinase, 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:132,243,827...132,261,233
Ensembl chr 1:132,243,864...132,261,226
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 1:131,838,196...131,864,059
Ensembl chr 1:131,838,272...131,864,059
JBrowse link
G Optc opticin ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:133,824,937...133,837,344
Ensembl chr 1:133,824,937...133,835,737
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 chr 1:135,693,823...135,696,872
Ensembl chr 1:135,693,857...135,696,874
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 1:132,973,410...133,036,429
Ensembl chr 1:132,973,405...133,036,425
JBrowse link
G Pkp1 plakophilin 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:135,799,132...135,846,945
Ensembl chr 1:135,799,133...135,846,945
JBrowse link
G Plekha6 pleckstrin homology domain containing, family A member 6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:133,089,770...133,231,173
Ensembl chr 1:133,091,948...133,231,173
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 1:131,725,122...131,749,210
Ensembl chr 1:131,725,119...131,749,211
JBrowse link
G Ppfia4 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:134,224,521...134,272,493
Ensembl chr 1:134,224,521...134,260,666
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 chr 1:134,682,396...134,883,699
Ensembl chr 1:134,682,396...134,883,680
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 1:133,058,904...133,067,538
Ensembl chr 1:133,058,881...133,067,521
JBrowse link
G Prelp proline arginine-rich end leucine-rich repeat ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:133,838,042...133,857,820
Ensembl chr 1:133,838,042...133,849,152
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 chr 1:135,059,577...135,073,064
Ensembl chr 1:135,060,438...135,073,055
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 1:131,795,004...131,801,003
Ensembl chr 1:131,794,962...131,800,625
JBrowse link
G Rabif RAB interacting factor ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:134,422,377...134,435,627
Ensembl chr 1:134,422,386...134,436,512
JBrowse link
G Rassf5 Ras association (RalGDS/AF-6) domain family member 5 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:131,104,147...131,172,915
Ensembl chr 1:131,104,147...131,172,995
JBrowse link
G Rbbp5 retinoblastoma binding protein 5, histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:132,405,087...132,436,382
Ensembl chr 1:132,405,103...132,433,397
JBrowse link
G Ren1 renin 1 structural ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:133,278,412...133,288,058
Ensembl chr 1:133,278,248...133,288,063
JBrowse link
G Rnpep arginyl aminopeptidase (aminopeptidase B) ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:135,190,447...135,211,765
Ensembl chr 1:135,190,450...135,211,822
JBrowse link
G Shisa4 shisa family member 4 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:135,298,578...135,302,812
Ensembl chr 1:135,298,795...135,302,975
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 1:131,671,760...131,699,242
Ensembl chr 1:131,671,760...131,699,242
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 1:131,755,236...131,776,601
Ensembl chr 1:131,755,231...131,776,603
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 1:131,890,653...131,910,710
Ensembl chr 1:131,890,705...131,910,707
JBrowse link
G Snrpe small nuclear ribonucleoprotein E ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:133,531,609...133,538,018
Ensembl chr 1:133,531,609...133,538,029
JBrowse link
G Sox13 SRY (sex determining region Y)-box 13 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:133,310,038...133,352,159
Ensembl chr 1:133,310,041...133,352,115
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 1:131,212,989...131,455,269
Ensembl chr 1:131,212,989...131,455,090
JBrowse link
G Syt2 synaptotagmin II ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:134,574,319...134,680,887
Ensembl chr 1:134,574,415...134,690,331
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 chr 1:135,229,273...135,241,475
Ensembl chr 1:135,222,951...135,241,516
JBrowse link
G Tmcc2 transmembrane and coiled-coil domains 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:132,284,053...132,319,661
Ensembl chr 1:132,284,053...132,319,019
JBrowse link
G Tmem183a transmembrane protein 183A ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:134,273,834...134,289,765
Ensembl chr 1:134,273,835...134,289,717
JBrowse link
G Tmem81 transmembrane protein 81 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:132,433,968...132,436,382
Ensembl chr 1:132,433,968...132,436,377
JBrowse link
G Tmem9 transmembrane protein 9 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:135,935,957...135,962,768
Ensembl chr 1:135,935,888...135,963,080
JBrowse link
G Tnni1 troponin I, skeletal, slow 1 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:135,709,252...135,738,727
Ensembl chr 1:135,707,172...135,738,727
JBrowse link
G Tnnt2 troponin T2, cardiac ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:135,763,933...135,780,006
Ensembl chr 1:135,764,092...135,779,998
JBrowse link
G Ube2t ubiquitin-conjugating enzyme E2T ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:134,890,303...134,901,918
Ensembl chr 1:134,890,303...134,901,900
JBrowse link
G Zbed6 zinc finger, BED type containing 6 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar PMID:28492532 NCBI chr 1:133,547,606...133,589,112
Ensembl chr 1:133,547,678...133,589,056
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 1:133,547,600...133,589,137
Ensembl chr 1:133,547,600...133,589,118
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 6a ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 7:122,630,324...122,794,519
Ensembl chr 7:122,723,108...122,794,519
JBrowse link
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 (GEF) 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7 OMIM
ClinVar
PMID:25741868 NCBI chr 3:78,969,818...79,194,681
Ensembl chr 3:78,969,823...79,193,824
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 chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163
JBrowse link
G Serpinb7 serine (or cysteine) peptidase inhibitor, clade B, member 7 ISO RGD PMID:16782060 RGD:7207386 NCBI chr 1:107,350,418...107,380,419
Ensembl chr 1:107,327,385...107,380,419
JBrowse link
G Serpini1 serine (or cysteine) peptidase inhibitor, clade I, member 1 ISO
IAGP
ClinVar Annotator: match by term: Encephalopathy, familial, with Collins bodies | ClinVar Annotator: match by term: Familial encephalopathy with neuroserpin inclusion bodies
CTD Direct Evidence: marker/mechanism
OMIM:604218
OMIM
ClinVar
CTD
MouseDO
PMID:9536098 PMID:11138927 PMID:11880376 PMID:12103288 PMID:15090543 More... NCBI chr 3:75,464,800...75,549,830
Ensembl chr 3:75,464,854...75,550,802
JBrowse link
Familial Myoclonus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nol3 nucleolar protein 3 (apoptosis repressor with CARD domain) ISO ClinVar Annotator: match by term: Myoclonus, familial, 1 OMIM
ClinVar
PMID:22926851 PMID:25741868 NCBI chr 8:106,002,777...106,008,571
Ensembl chr 8:106,002,772...106,008,571
JBrowse link
Familial Myoclonus 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn8a sodium channel, voltage-gated, type VIII, alpha ISO ClinVar Annotator: match by term: Myoclonus, familial, 2 OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:27875746 PMID:28492532 PMID:29726066 More... NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819
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 channel, voltage-sensitive 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 chr16:20,521,185...20,536,496
Ensembl chr16:20,521,714...20,536,496
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 alpha 1 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 chr11:42,021,766...42,073,893
Ensembl chr11:42,021,766...42,073,757
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 polypeptide 7 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25326635 PMID:25741868 NCBI chr 7:62,748,440...62,862,274
Ensembl chr 7:62,748,440...62,862,317
JBrowse link
G Efhc1 EF-hand domain (C-terminal) containing 1 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:21,021,776...21,061,065
Ensembl chr 1:21,021,850...21,061,065
JBrowse link
G Scn3a sodium channel, voltage-gated, type III, alpha ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25741868 NCBI chr 2:65,287,462...65,397,935
Ensembl chr 2:65,288,607...65,397,971
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, subunit A, flavoprotein (Fp) ISO ClinVar Annotator: match by term: Infantile polymyoclonus ClinVar PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 More... NCBI chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399
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 chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608
JBrowse link
G Cacna1g calcium channel, voltage-dependent, T type, alpha 1G subunit ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr11:94,299,217...94,365,226
Ensembl chr11:94,299,217...94,365,024
JBrowse link
G Cacnb4 calcium channel, voltage-dependent, beta 4 subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD
ClinVar
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:52,318,332...52,566,816
Ensembl chr 2:52,318,337...52,566,843
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 2:103,593,292...103,627,946
Ensembl chr 2:103,593,286...103,627,994
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 chr 2:73,393,625...73,410,682
Ensembl chr 2:73,393,559...73,410,682
JBrowse link
G Efhc1 EF-hand domain (C-terminal) containing 1 susceptibility IAGP
ISO
OMIM:254770 | OMIM:608816 | OMIM:611364 | OMIM:614280
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
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
OMIM
PMID:8737649 PMID:9536098 PMID:12439895 PMID:15258581 PMID:16199547 More... NCBI chr 1:21,021,776...21,061,065
Ensembl chr 1:21,021,850...21,061,065
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD
ClinVar
NCBI chr11:42,021,766...42,073,893
Ensembl chr11:42,021,766...42,073,757
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 chr13:64,206,088...64,237,076
Ensembl chr13:64,206,080...64,237,044
JBrowse link
G Jrk jerky ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr15:74,574,261...74,581,171
Ensembl chr15:74,574,150...74,581,384
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 9:78,016,425...78,079,396
Ensembl chr 9:78,016,474...78,079,389
JBrowse link
Lafora disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epm2a epilepsy, progressive myoclonic epilepsy, type 2 gene alpha IAGP
ISO
OMIM:254780
ClinVar Annotator: match by term: Lafora disease
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 PMID:11735300 More... NCBI chr10:11,218,435...11,335,408
Ensembl chr10:11,219,148...11,335,388
JBrowse link
G Nhlrc1 NHL repeat containing 1 IAGP
ISO
OMIM:254780
ClinVar Annotator: match by term: Epilepsy progressive myoclonic 2 | ClinVar Annotator: match by term: Lafora disease
MouseDO
ClinVar
PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16021330 More... NCBI chr13:47,166,033...47,168,326
Ensembl chr13:47,166,033...47,168,326
JBrowse link
G Tpmt thiopurine methyltransferase ISO ClinVar Annotator: match by term: Lafora disease ClinVar PMID:15781812 PMID:17389303 PMID:23317923 PMID:28492532 NCBI chr13:47,175,463...47,196,833
Ensembl chr13:47,175,958...47,198,213
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 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
JBrowse link
G mt-Nd5 NADH dehydrogenase 5, mitochondrial ISO ClinVar Annotator: match by term: MERRF syndrome ClinVar PMID:15767514 PMID:16816025 PMID:17400793 PMID:18332249 PMID:25741868 NCBI chr MT:11,742...13,565
Ensembl chr MT:11,742...13,565
JBrowse link
G mt-Tf tRNA phenylalanine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MERRF syndrome
CTD
ClinVar
PMID:15184630 PMID:17878308 NCBI chr MT:1...68
Ensembl chr MT:1...68
JBrowse link
G mt-Ti tRNA isoleucine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MERRF syndrome
CTD
ClinVar
PMID:11782991 PMID:12767666 PMID:21982779 PMID:31965079 PMID:32906214 NCBI chr MT:3,706...3,774
Ensembl chr MT:3,706...3,774
JBrowse link
G mt-Tk tRNA lysine, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MERRF syndrome | ClinVar Annotator: match by term: Myoencephalopathy ragged-red fiber disease
CTD
ClinVar
PMID:1324294 PMID:1334369 PMID:1361099 PMID:1463005 PMID:1487239 More... NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764
JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MERRF syndrome | ClinVar Annotator: match by term: Myoencephalopathy ragged-red fiber disease
CTD
ClinVar
PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
JBrowse link
G mt-Tp tRNA proline, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MERFF syndrome | ClinVar Annotator: match by term: MERRF syndrome
CTD
ClinVar
PMID:11196116 PMID:19273760 PMID:19718780 PMID:31965079 NCBI chr MT:15,356...15,422
Ensembl chr MT:15,356...15,422
JBrowse link
MERRF/MELAS Overlap Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:14967777 PMID:15111688 PMID:31965079 PMID:32906214 NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612
JBrowse link
G mt-Tk tRNA lysine, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:1361099 PMID:8069654 PMID:20301693 PMID:20610441 PMID:31965079 More... NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764
JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750
JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:7669057 PMID:9832034 PMID:17894844 PMID:31965079 PMID:32906214 NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938
JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO ClinVar Annotator: match by term: MERRF/MELAS overlap syndrome ClinVar PMID:16950817 NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671
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 chr15:80,832,691...80,855,148
Ensembl chr15:80,832,691...80,855,147
JBrowse link
G Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574
JBrowse link
G Brk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar NCBI chr 7:73,076,400...73,191,494
Ensembl chr 7:73,076,386...73,191,578
JBrowse link
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: myoclonic epilepsy ClinVar PMID:28492532 NCBI chr14:66,370,685...66,390,397
Ensembl chr14:66,372,488...66,390,397
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 chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456
JBrowse link
G Epm2a epilepsy, progressive myoclonic epilepsy, type 2 gene alpha ISO ClinVar Annotator: match by term: Myoclonus epilepsy ClinVar PMID:9771710 PMID:9931343 PMID:11175283 PMID:12019207 PMID:14532330 More... NCBI chr10:11,218,435...11,335,408
Ensembl chr10:11,219,148...11,335,388
JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978
JBrowse link
G Fancd2os Fancd2 opposite strand ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676
JBrowse link
G Ghrl ghrelin ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841
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 chr11:103,567,675...103,590,139
Ensembl chr11:103,567,675...103,588,724
JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Myoclonic absence seizure ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:178,148,673...178,170,063
Ensembl chr 1:178,148,673...178,165,362
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 chr 6:113,615,428...113,671,987
Ensembl chr 6:113,615,428...113,671,987
JBrowse link
G Kcnb1 potassium voltage gated channel, Shab-related subfamily, member 1 ISO ClinVar Annotator: match by term: Myoclonic absence seizure ClinVar PMID:25741868 PMID:26477325 PMID:28492532 PMID:28806457 PMID:29264397 More... NCBI chr 2:166,937,889...167,032,088
Ensembl chr 2:166,937,889...167,032,075
JBrowse link
G Lmnb2 lamin B2 ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:28492532 NCBI chr10:80,737,197...80,754,079
Ensembl chr10:80,737,037...80,754,079
JBrowse link
G mt-Nd6 NADH dehydrogenase 6, mitochondrial ISO DNA:missense mutation: :m.14487T>C (p.M63V) (human) RGD PMID:20019223 RGD:6482231 NCBI chr MT:13,552...14,070
Ensembl chr MT:13,552...14,070
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17275665 NCBI chr11:63,019,808...63,050,373
Ensembl chr11:63,019,808...63,050,373
JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: therapeutic CTD PMID:6088243 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
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 chr 6:92,347,876...92,683,233
Ensembl chr 6:92,347,889...92,683,136
JBrowse link
G Prmt7 protein arginine N-methyltransferase 7 ISO ClinVar Annotator: match by term: Generalized myoclonic seizures ClinVar PMID:25741868 PMID:33085104 NCBI chr 8:106,937,686...106,978,326
Ensembl chr 8:106,937,568...106,979,426
JBrowse link
G Rapgef2 Rap guanine nucleotide exchange factor (GEF) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chr 3:78,969,818...79,194,681
Ensembl chr 3:78,969,823...79,193,824
JBrowse link
G Samd12 sterile alpha motif domain containing 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chr15:53,262,514...53,765,926
Ensembl chr15:53,317,206...53,765,933
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 5:92,589,170...92,653,516
Ensembl chr 5:92,589,173...92,654,692
JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myoclonic encephalopathy | ClinVar Annotator: match by term: myoclonic epilepsy
CTD
ClinVar
PMID:12907273 PMID:17347258 PMID:19099883 PMID:21480876 PMID:28492532 More... NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184
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 chr 6:113,705,013...113,717,642
Ensembl chr 6:113,705,023...113,717,704
JBrowse link
G Sema6b sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25741868 NCBI chr17:56,430,085...56,447,343
Ensembl chr17:56,430,085...56,447,343
JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25741868 NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180
JBrowse link
G Slc6a1 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:19344873 PMID:22495306 More... NCBI chr 6:114,259,735...114,294,491
Ensembl chr 6:114,259,596...114,294,493
JBrowse link
G Slc6a11 solute carrier family 6 (neurotransmitter transporter, GABA), member 11 ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:114,108,202...114,226,847
Ensembl chr 6:114,108,202...114,226,913
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 8:106,927,070...106,937,565
Ensembl chr 8:106,927,349...106,937,567
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 4:117,789,349...117,992,169
Ensembl chr 4:117,789,351...117,992,111
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18469812 PMID:29929108 NCBI chr 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257
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 chr 6:113,674,090...113,688,030
Ensembl chr 6:113,674,011...113,688,030
JBrowse link
G Tnrc6a trinucleotide repeat containing 6a ISO CTD Direct Evidence: marker/mechanism CTD PMID:29507423 NCBI chr 7:122,630,324...122,794,519
Ensembl chr 7:122,723,108...122,794,519
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Myoclonic-astatic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594
JBrowse link
Myoclonic Epilepsy of Lafora 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epm2a epilepsy, progressive myoclonic epilepsy, type 2 gene alpha 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 chr10:11,218,435...11,335,408
Ensembl chr10:11,219,148...11,335,388
JBrowse link
G Nhlrc1 NHL repeat containing 1 ISO ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1 ClinVar PMID:25741868 NCBI chr13:47,166,033...47,168,326
Ensembl chr13:47,166,033...47,168,326
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 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 chr13:47,166,033...47,168,326
Ensembl chr13:47,166,033...47,168,326
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 chr17:24,441,518...24,470,333
Ensembl chr17:24,441,172...24,470,458
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 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
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 chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy
DNA:mutation:cds:c.751T>C(p.F251L)(human)
DNA:mutation:cds:c.457G>A (p.E153K)(human)
OMIM
ClinVar
RGD
PMID:10574461 PMID:10741954 PMID:18414213 PMID:20727515 PMID:20797691 More... RGD:11537393, RGD:11537392 NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536
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 chr 6:113,355,074...113,367,408
Ensembl chr 6:113,355,076...113,367,409
JBrowse link
G Atp1a3 ATPase, Na+/K+ transporting, alpha 3 polypeptide ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 7:24,677,592...24,705,338
Ensembl chr 7:24,677,592...24,705,383
JBrowse link
G Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574
JBrowse link
G Brk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912
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 chr 6:113,283,824...113,301,823
Ensembl chr 6:113,284,098...113,301,821
JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 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 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875
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 chr 6:113,311,085...113,320,883
Ensembl chr 6:113,311,085...113,320,945
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:7,597,953...7,607,563
Ensembl chr  X:7,597,953...7,617,144
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 7:73,076,400...73,191,494
Ensembl chr 7:73,076,386...73,191,578
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 chr 6:113,401,595...113,412,721
Ensembl chr 6:113,401,595...113,412,721
JBrowse link
G Cpne9 copine family member IX ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,259,244...113,282,532
Ensembl chr 6:113,259,268...113,282,588
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 chr 6:113,460,317...113,470,304
Ensembl chr 6:113,460,258...113,470,304
JBrowse link
G Dnm1 dynamin 1 IAGP RGD PMID:27363778 RGD:11557016 NCBI chr 2:32,198,483...32,243,361
Ensembl chr 2:32,198,483...32,243,350
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 chr 6:113,491,848...113,508,599
Ensembl chr 6:113,491,835...113,508,613
JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978
JBrowse link
G Fancd2os Fancd2 opposite strand ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,573,722...113,577,735
Ensembl chr 6:113,573,722...113,577,676
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 chr16:27,976,535...28,571,995
Ensembl chr16:27,978,850...28,571,820
JBrowse link
G Fmr1 fragile X messenger ribonucleoprotein 1 ISO protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:67,722,144...67,761,569
Ensembl chr  X:67,722,147...67,761,569
JBrowse link
G Ghrl ghrelin ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,693,080...113,696,872
Ensembl chr 6:113,693,080...113,696,841
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 chr 6:113,448,416...113,460,124
Ensembl chr 6:113,448,388...113,460,101
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 chr 6:113,435,659...113,447,719
Ensembl chr 6:113,435,445...113,447,719
JBrowse link
G Iqsec2 IQ motif and Sec7 domain 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:150,927,179...151,008,233
Ensembl chr  X:150,927,193...151,008,232
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 chr 6:113,615,428...113,671,987
Ensembl chr 6:113,615,428...113,671,987
JBrowse link
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,419,478...113,425,190
Ensembl chr 6:113,419,530...113,425,190
JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar NCBI chr 5:134,684,893...134,718,713
Ensembl chr 5:134,684,893...134,717,452
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 chr 6:113,214,596...113,258,353
Ensembl chr 6:113,214,804...113,258,353
JBrowse link
G Ogg1 8-oxoguanine DNA-glycosylase 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029
JBrowse link
G Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chr19:41,260,980...41,373,541
Ensembl chr19:41,260,816...41,373,541
JBrowse link
G Praf2 PRA1 domain family 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:7,594,810...7,597,302
Ensembl chr  X:7,594,678...7,597,303
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 chr 6:113,470,599...113,479,071
Ensembl chr 6:113,470,600...113,478,892
JBrowse link
G Ralgapa1 Ral GTPase activating protein, alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chr12:55,649,673...55,868,522
Ensembl chr12:55,649,681...55,867,952
JBrowse link
G Rbfox1 RNA binding protein, fox-1 homolog (C. elegans) 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr16:5,702,566...7,230,344
Ensembl chr16:5,124,665...7,229,391
JBrowse link
G Rpusd3 RNA pseudouridylate synthase domain containing 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,392,280...113,396,309
Ensembl chr 6:113,392,280...113,396,301
JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More... NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184
JBrowse link
G Scn1b sodium channel, voltage-gated, type I, beta ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 PMID:37845033 NCBI chr 7:30,815,949...30,826,436
Ensembl chr 7:30,815,949...30,826,428
JBrowse link
G Scn2a sodium channel, voltage-gated, type II, alpha ISO ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood ClinVar PMID:25741868 NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791
JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819
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 chr 6:113,705,013...113,717,642
Ensembl chr 6:113,705,023...113,717,704
JBrowse link
G Slc13a5 solute carrier family 13 (sodium-dependent citrate transporter), 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 chr11:72,132,816...72,158,092
Ensembl chr11:72,132,815...72,158,048
JBrowse link
G Slc6a1 solute carrier family 6 (neurotransmitter transporter, GABA), 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 chr 6:114,259,735...114,294,491
Ensembl chr 6:114,259,596...114,294,493
JBrowse link
G Slc6a11 solute carrier family 6 (neurotransmitter transporter, GABA), member 11 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:114,108,202...114,226,847
Ensembl chr 6:114,108,202...114,226,913
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 1:131,212,989...131,455,269
Ensembl chr 1:131,212,989...131,455,090
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 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257
JBrowse link
G Tada3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,343,594...113,354,799
Ensembl chr 6:113,342,986...113,354,844
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 chr 6:113,674,090...113,688,030
Ensembl chr 6:113,674,011...113,688,030
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 chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536
JBrowse link
G Ttll3 tubulin tyrosine ligase-like family, member 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr 6:113,366,221...113,391,553
Ensembl chr 6:113,366,221...113,391,548
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 chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:7,588,212...7,594,439
Ensembl chr  X:7,580,572...7,594,445
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 chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217
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 chr11:70,342,744...70,344,558
Ensembl chr11:70,342,745...70,344,553
JBrowse link
Opsoclonus-Myoclonus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: therapeutic CTD PMID:1318289 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
JBrowse link
G Scnn1b sodium channel, nonvoltage-gated 1 beta ISO ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome ClinVar NCBI chr 7:121,464,261...121,517,951
Ensembl chr 7:121,464,261...121,517,737
JBrowse link
G Sdha succinate dehydrogenase complex, subunit A, flavoprotein (Fp) ISO ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome ClinVar PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 More... NCBI chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399
JBrowse link
Progressive External Ophthalmoplegia with Myoclonus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Tk tRNA lysine, mitochondrial ISO ClinVar Annotator: match by term: Progressive external ophthalmoplegia with myoclonus ClinVar PMID:10220860 NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764
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 1 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 2b ClinVar PMID:12958597 PMID:12960212 PMID:15781812 PMID:15930137 PMID:16311711 More... NCBI chr13:47,166,033...47,168,326
Ensembl chr13:47,166,033...47,168,326
JBrowse link
progressive myoclonus epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2610028H24Rik RIKEN cDNA 2610028H24 gene ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:76,284,883...76,297,052
Ensembl chr10:76,284,915...76,296,944
JBrowse link
G Abcg1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr17:31,276,668...31,336,958
Ensembl chr17:31,276,649...31,336,962
JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,126,561...77,254,125
Ensembl chr10:77,126,560...77,254,104
JBrowse link
G Afg3l2 AFG3-like AAA ATPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr18:67,537,830...67,582,277
Ensembl chr18:67,537,834...67,582,242
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 chr10:78,105,008...78,188,335
Ensembl chr10:78,105,012...78,188,323
JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,865,856...77,879,444
Ensembl chr10:77,865,856...77,879,444
JBrowse link
G Art3 ADP-ribosyltransferase 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 5:92,479,659...92,562,487
Ensembl chr 5:92,479,686...92,562,487
JBrowse link
G Atn1 atrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10814707 NCBI chr 6:124,719,507...124,733,450
Ensembl chr 6:124,719,507...124,733,487
Ensembl chr 6:124,719,507...124,733,487
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 chr16:97,656,409...97,727,248
Ensembl chr16:97,656,409...97,763,798
JBrowse link
G Cbs cystathionine beta-synthase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr17:31,831,602...31,856,170
Ensembl chr17:31,827,868...31,856,212
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 5:92,756,096...92,823,327
Ensembl chr 5:92,755,813...92,823,130
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 5:92,153,933...92,198,479
Ensembl chr 5:92,153,933...92,191,742
JBrowse link
G Cers1 ceramide synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242
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 chr10:77,814,364...77,821,272
Ensembl chr10:77,814,358...77,822,739
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:73,076,400...73,191,494
Ensembl chr 7:73,076,386...73,191,578
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 7:126,170,571...126,184,991
Ensembl chr 7:126,170,379...126,184,989
JBrowse link
G Cln5 ceroid-lipofuscinosis, neuronal 5 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 chr14:103,307,679...103,315,064
Ensembl chr14:103,307,652...103,315,064
JBrowse link
G Cln6 ceroid-lipofuscinosis, neuronal 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive
CTD
ClinVar
PMID:25401298 PMID:25741868 NCBI chr 9:62,746,067...62,759,288
Ensembl chr 9:62,746,067...62,759,288
JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382
JBrowse link
G Col6a1 collagen, type VI, alpha 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:76,544,626...76,561,869
Ensembl chr10:76,544,626...76,562,002
JBrowse link
G Col6a2 collagen, type VI, alpha 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:76,431,590...76,459,464
Ensembl chr10:76,431,596...76,459,464
JBrowse link
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr17:31,896,905...31,900,704
Ensembl chr17:31,896,781...31,900,707
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 chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456
JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 5:92,494,497...92,496,748
Ensembl chr 5:92,494,497...92,496,748
JBrowse link
G Cxcl11 chemokine (C-X-C motif) ligand 11 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 5:92,507,403...92,511,155
Ensembl chr 5:92,507,403...92,513,344
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 5:92,469,190...92,475,938
Ensembl chr 5:92,469,206...92,475,938
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 chr 2:181,162,141...181,194,679
Ensembl chr 2:181,162,278...181,196,926
JBrowse link
G Dnmt3l DNA methyltransferase 3-like ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,878,121...77,899,456
Ensembl chr10:77,877,781...77,899,456
JBrowse link
G Epm2a epilepsy, progressive myoclonic epilepsy, type 2 gene alpha ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9536098 PMID:9771710 PMID:9931343 PMID:10932264 PMID:11175283 More... RGD:9685621 NCBI chr10:11,218,435...11,335,408
Ensembl chr10:11,219,148...11,335,388
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 5:92,702,823...92,739,144
Ensembl chr 5:92,702,928...92,739,138
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 chr14:103,318,470...103,337,016
Ensembl chr14:103,317,675...103,337,002
JBrowse link
G Ftcd formiminotransferase cyclodeaminase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:76,411,482...76,426,172
Ensembl chr10:76,411,482...76,426,172
JBrowse link
G G3bp2 G3BP stress granule assembly factor 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 5:92,200,004...92,285,584
Ensembl chr 5:92,200,005...92,231,578
JBrowse link
G Gatd3a glutamine amidotransferase like class 1 domain containing 3A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,997,900...78,005,589
Ensembl chr10:77,997,900...78,005,616
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive myoclonic epilepsy
ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19057520 PMID:21549339 More... NCBI chr11:103,567,675...103,590,139
Ensembl chr11:103,567,675...103,588,724
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 chr17:32,163,743...32,253,869
Ensembl chr17:32,163,743...32,255,323
JBrowse link
G Icosl icos ligand ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,904,921...77,915,359
Ensembl chr10:77,905,136...77,919,747
JBrowse link
G Itgb2 integrin beta 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,366,164...77,401,542
Ensembl chr10:77,366,086...77,401,542
JBrowse link
G Kcnc1 potassium voltage gated channel, Shaw-related subfamily, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 7:46,045,643...46,088,130
Ensembl chr 7:46,045,921...46,088,128
JBrowse link
G Kctd7 potassium channel tetramerisation domain containing 7 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar NCBI chr 5:130,166,814...130,183,960
Ensembl chr 5:130,173,702...130,184,647
JBrowse link
G Krtap10-10 keratin associated protein 10-10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,671,781...77,673,085
Ensembl chr10:77,671,781...77,673,086
JBrowse link
G Krtap10-22 keratin associated protein 10-22 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,606,467...77,607,159
Ensembl chr10:77,606,467...77,607,159
JBrowse link
G Krtap10-23 keratin associated protein 10-23 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,617,567...77,618,449
Ensembl chr10:77,617,684...77,618,376
JBrowse link
G Krtap10-33 keratin associated protein 10-33 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,525,791...77,526,644
Ensembl chr10:77,525,791...77,526,591
JBrowse link
G Krtap10-34 keratin associated protein 10-34 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,634,221...77,635,025
Ensembl chr10:77,634,221...77,634,967
JBrowse link
G Krtap12-1 keratin associated protein 12-1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,556,420...77,557,090
Ensembl chr10:77,556,433...77,557,088
JBrowse link
G Krtap12-22 keratin associated protein 12-22 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,547,280...77,547,843
Ensembl chr10:77,547,291...77,547,843
JBrowse link
G Krtap12-23 keratin associated protein 12-23 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,542,423...77,542,820
Ensembl chr10:77,542,460...77,542,809
JBrowse link
G Lmnb2 lamin B2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:80,737,197...80,754,079
Ensembl chr10:80,737,037...80,754,079
JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,733,409...77,738,370
Ensembl chr10:77,733,409...77,738,370
JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:76,367,303...76,392,973
Ensembl chr10:76,367,422...76,392,972
JBrowse link
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:76,304,736...76,351,693
Ensembl chr10:76,304,761...76,351,691
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:28492532 NCBI chr 3:40,772,500...40,801,322
Ensembl chr 3:40,772,538...40,801,321
JBrowse link
G Naaa N-acylethanolamine acid amidase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 5:92,405,519...92,426,040
Ensembl chr 5:92,405,518...92,426,029
JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase core subunit V3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr17:31,739,089...31,750,300
Ensembl chr17:31,739,089...31,750,305
JBrowse link
G Neu1 neuraminidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr17:35,150,229...35,156,273
Ensembl chr17:35,150,229...35,154,929
JBrowse link
G Nhlrc1 NHL repeat containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr13:47,166,033...47,168,326
Ensembl chr13:47,166,033...47,168,326
JBrowse link
G Nup54 nucleoporin 54 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 5:92,563,399...92,583,117
Ensembl chr 5:92,563,399...92,583,078
JBrowse link
G Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 5:92,135,332...92,143,176
Ensembl chr 5:92,135,334...92,143,179
JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr 2:5,023,902...5,069,210
Ensembl chr 2:5,025,453...5,068,862
JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:76,597,688...76,797,951
Ensembl chr10:76,597,691...76,797,721
JBrowse link
G Pcnt pericentrin (kendrin) ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:76,187,098...76,279,988
Ensembl chr10:76,187,097...76,278,620
JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr17:31,605,079...31,695,284
Ensembl chr17:31,605,184...31,695,284
JBrowse link
G Pfkl phosphofructokinase, liver, B-type ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,822,781...77,845,641
Ensembl chr10:77,822,781...77,845,917
JBrowse link
G Pknox1 Pbx/knotted 1 homeobox ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr17:31,783,697...31,826,665
Ensembl chr17:31,783,708...31,826,667
JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,095,056...77,105,420
Ensembl chr10:77,095,052...77,105,409
JBrowse link
G Ppef2 protein phosphatase, EF hand calcium-binding domain 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 5:92,374,109...92,404,759
Ensembl chr 5:92,374,538...92,404,137
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 4:122,729,879...122,752,968
Ensembl chr 4:122,730,035...122,752,968
JBrowse link
G Prdm15 PR domain containing 15 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr16:97,592,720...97,653,076
Ensembl chr16:97,592,667...97,653,050
JBrowse link
G Prdm8 PR domain containing 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:98,315,241...98,335,313
Ensembl chr 5:98,315,057...98,336,850
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 chr15:93,396,992...93,494,147
Ensembl chr15:93,396,995...93,493,772
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:21276947 PMID:23711981 PMID:25741868 PMID:26467025 PMID:26942291 More... NCBI chr 6:92,347,876...92,683,233
Ensembl chr 6:92,347,889...92,683,136
JBrowse link
G Prnp prion protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 2:131,751,848...131,780,356
Ensembl chr 2:131,751,848...131,780,349
JBrowse link
G Pttg1ip pituitary tumor-transforming 1 interacting protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,417,489...77,434,566
Ensembl chr10:77,417,554...77,434,566
JBrowse link
G Pwp2 PWP2 periodic tryptophan protein homolog (yeast) ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:78,006,743...78,021,005
Ensembl chr10:78,006,743...78,020,983
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 chr16:97,543,133...97,564,979
Ensembl chr16:97,543,133...97,564,987
JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:78,236,196...78,248,877
Ensembl chr10:78,236,218...78,248,877
JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr17:32,255,087...32,281,839
Ensembl chr17:32,255,074...32,281,839
JBrowse link
G Rsph1 radial spoke head 1 homolog (Chlamydomonas) ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr17:31,473,993...31,496,270
Ensembl chr17:31,473,993...31,496,357
JBrowse link
G Sacs sacsin ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr14:61,375,870...61,478,142
Ensembl chr14:61,375,906...61,478,144
JBrowse link
G Scarb2 scavenger receptor class B, member 2 IAGP
ISO
OMIM:254900 | OMIM:310370 | OMIM:611726 | OMIM:612437 | OMIM:614018
ClinVar Annotator: match by term: Familial progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy
ClinVar Annotator: match by term: 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 Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy
MouseDO
ClinVar
PMID:9536098 PMID:15364701 PMID:16199547 PMID:17576681 PMID:18308289 More... NCBI chr 5:92,589,170...92,653,516
Ensembl chr 5:92,589,173...92,654,692
JBrowse link
G Sdad1 SDA1 domain containing 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 5:92,431,869...92,457,883
Ensembl chr 5:92,431,869...92,458,338
JBrowse link
G Serpini1 serine (or cysteine) peptidase inhibitor, clade I, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr 3:75,464,800...75,549,830
Ensembl chr 3:75,464,854...75,550,802
JBrowse link
G Shroom3 shroom family member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 5:92,831,294...93,113,618
Ensembl chr 5:92,831,294...93,113,177
JBrowse link
G Sik1 salt inducible kinase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr17:32,063,222...32,074,808
Ensembl chr17:32,063,224...32,074,778
JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836
JBrowse link
G Slc37a1 solute carrier family 37 (glycerol-3-phosphate transporter), member 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr17:31,495,722...31,569,683
Ensembl chr17:31,505,766...31,569,713
JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,322,489...77,352,758
Ensembl chr10:77,322,495...77,351,619
JBrowse link
G Spatc1l spermatogenesis and centriole associated 1 like ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:76,394,180...76,406,035
Ensembl chr10:76,398,106...76,406,035
JBrowse link
G Stbd1 starch binding domain 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 5:92,750,910...92,754,438
Ensembl chr 5:92,750,900...92,754,438
JBrowse link
G Sumo3 small ubiquitin-like modifier 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,441,931...77,454,165
Ensembl chr10:77,441,931...77,454,165
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25401298 NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536
JBrowse link
G Tff1 trefoil factor 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr17:31,380,369...31,384,034
Ensembl chr17:31,380,369...31,384,251
JBrowse link
G Tff2 trefoil factor 2 (spasmolytic protein 1) ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr17:31,360,036...31,363,256
Ensembl chr17:31,360,023...31,363,256
JBrowse link
G Tff3 trefoil factor 3, intestinal ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr17:31,344,280...31,348,585
Ensembl chr17:31,344,280...31,348,620
JBrowse link
G Tmprss3 transmembrane protease, serine 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr17:31,398,237...31,419,478
Ensembl chr17:31,398,239...31,417,951
JBrowse link
G Tpp1 tripeptidyl peptidase I ISO ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:105,394,018...105,401,489
Ensembl chr 7:105,394,018...105,401,442
JBrowse link
G Trappc10 trafficking protein particle complex 10 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:78,021,256...78,080,479
Ensembl chr10:78,022,559...78,080,475
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 chr10:77,743,556...77,805,746
Ensembl chr10:77,743,556...77,806,397
JBrowse link
G Tsc1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17484760 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179
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 chr10:77,521,942...77,722,844
Ensembl chr10:77,522,403...77,722,855
JBrowse link
G U2af1 U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr17:31,866,055...31,878,122
Ensembl chr17:31,866,055...31,877,866
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 chr17:31,426,842...31,478,655
Ensembl chr17:31,426,847...31,465,866
JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:77,458,155...77,481,824
Ensembl chr10:77,458,109...77,481,827
JBrowse link
G Umodl1 uromodulin-like 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr17:31,173,614...31,229,684
Ensembl chr17:31,173,614...31,229,684
JBrowse link
G Uso1 USO1 vesicle docking factor ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:19847901 PMID:28492532 NCBI chr 5:92,285,770...92,350,659
Ensembl chr 5:92,285,797...92,350,657
JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr17:31,713,296...31,738,946
Ensembl chr17:31,713,296...31,738,954
JBrowse link
G Wnt3 wingless-type MMTV integration site family, member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:21549339 PMID:28492532 NCBI chr11:103,665,000...103,708,854
Ensembl chr11:103,664,976...103,708,783
JBrowse link
G Wnt9b wingless-type MMTV integration site family, member 9B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:21549339 PMID:28492532 NCBI chr11:103,618,188...103,666,098
Ensembl chr11:103,618,190...103,640,647
JBrowse link
G Ybey ybeY metallopeptidase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr10:76,295,401...76,304,948
Ensembl chr10:76,295,401...76,304,948
JBrowse link
G Zbtb21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy ClinVar PMID:8596935 PMID:28492532 NCBI chr16:97,746,993...97,763,850
Ensembl chr16:97,744,557...97,763,822
JBrowse link
progressive myoclonus epilepsy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 anthrax toxin receptor 2 ISO ClinVar Annotator: match by term: Early-onset Lafora body disease ClinVar PMID:28492532 NCBI chr 5:98,032,547...98,178,876
Ensembl chr 5:98,030,642...98,178,902
JBrowse link
G Prdm8 PR domain containing 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 5:98,315,241...98,335,313
Ensembl chr 5:98,315,057...98,336,850
JBrowse link
Progressive Myoclonus Epilepsy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema6b sema domain, transmembrane domain (TM), and cytoplasmic domain, (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 chr17:56,430,085...56,447,343
Ensembl chr17:56,430,085...56,447,343
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 N-methyltransferase 7 ISO ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12 ClinVar PMID:25741868 PMID:33085104 NCBI chr 8:106,937,686...106,978,326
Ensembl chr 8:106,937,568...106,979,426
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 8:106,927,070...106,937,565
Ensembl chr 8:106,927,349...106,937,567
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 chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456
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
IAGP
ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 1B | ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia
CTD Direct Evidence: marker/mechanism
OMIM:612437
OMIM
ClinVar
CTD
MouseDO
PMID:9536098 PMID:17576681 PMID:18414213 PMID:18976727 PMID:20301774 More... NCBI chr15:93,396,992...93,494,147
Ensembl chr15:93,396,995...93,493,772
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 chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536
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 7:126,170,571...126,184,991
Ensembl chr 7:126,170,379...126,184,989
JBrowse link
G Kctd7 potassium channel tetramerisation 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 5:130,166,814...130,183,960
Ensembl chr 5:130,173,702...130,184,647
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 (eag-related), member 8 ISO ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome ClinVar PMID:25741868 NCBI chr17:52,909,535...53,286,892
Ensembl chr17:52,909,737...53,286,222
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome ClinVar PMID:25741868 NCBI chr 2:180,961,504...180,998,409
Ensembl chr 2:180,961,532...180,998,409
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 5:92,589,170...92,653,516
Ensembl chr 5:92,589,173...92,654,692
JBrowse link
progressive myoclonus epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci Fanconi anemia, 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 7:79,042,056...79,100,013
Ensembl chr 7:79,041,677...79,100,012
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 chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320
JBrowse link
G Polg polymerase (DNA directed), gamma 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 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
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 chr 6:92,347,876...92,683,233
Ensembl chr 6:92,347,889...92,683,136
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 chr19:44,994,102...45,001,203
Ensembl chr19:44,994,102...45,001,201
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 chr11:103,567,675...103,590,139
Ensembl chr11:103,567,675...103,588,724
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 1:171,062,426...171,078,956
Ensembl chr 1:171,062,422...171,078,957
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 7:48,480,146...48,497,799
Ensembl chr 7:48,480,146...48,497,781
JBrowse link
G Gtf2h1 general transcription factor II H, polypeptide 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 7:46,445,518...46,473,224
Ensembl chr 7:46,445,527...46,473,224
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 7:46,409,890...46,445,501
Ensembl chr 7:46,409,890...46,445,488
JBrowse link
G Kcnc1 potassium voltage gated channel, Shaw-related subfamily, 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 7:46,045,643...46,088,130
Ensembl chr 7:46,045,921...46,088,128
JBrowse link
G Ldha lactate dehydrogenase A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 7:46,491,698...46,505,051
Ensembl chr 7:46,490,899...46,505,051
JBrowse link
G Ldhc lactate dehydrogenase C ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 7:46,510,687...46,527,571
Ensembl chr 7:46,510,627...46,527,566
JBrowse link
G LOC102637012 immunoglobulin superfamily member 22-like ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 7:46,709,799...46,724,467
Ensembl chr 7:46,707,101...46,724,435
JBrowse link
G Mrgpra1 MAS-related GPR, member A1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 7:46,984,623...47,003,988
Ensembl chr 7:46,984,623...47,003,988
JBrowse link
G Mrgprx1 MAS-related GPR, member X1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 7:47,670,719...47,677,345
Ensembl chr 7:47,670,719...47,677,345
JBrowse link
G Mrgprx2 MAS-related GPR, member X2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 7:48,128,367...48,149,018
Ensembl chr 7:48,128,367...48,149,069
JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 7:46,025,898...46,028,516
Ensembl chr 7:46,025,898...46,028,523
JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 7:45,890,411...45,960,858
Ensembl chr 7:45,890,411...45,960,858
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 7:46,727,543...46,783,774
Ensembl chr 7:46,727,543...46,783,432
JBrowse link
G Saa1 serum amyloid A 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 7:46,389,921...46,392,404
Ensembl chr 7:46,389,921...46,392,404
JBrowse link
G Saa2 serum amyloid A 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 7:46,401,257...46,403,737
Ensembl chr 7:46,401,214...46,403,737
JBrowse link
G Saa4 serum amyloid A 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 7:46,377,416...46,382,027
Ensembl chr 7:46,377,422...46,382,027
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 7:46,336,581...46,360,085
Ensembl chr 7:46,335,532...46,360,104
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 7:46,092,583...46,289,254
Ensembl chr 7:46,092,578...46,289,231
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 7:46,640,144...46,658,162
Ensembl chr 7:46,640,144...46,658,159
JBrowse link
G Tmem86a transmembrane protein 86A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 7:46,700,388...46,704,524
Ensembl chr 7:46,700,349...46,704,525
JBrowse link
G Tph1 tryptophan hydroxylase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 7:46,294,065...46,321,961
Ensembl chr 7:46,294,065...46,321,961
JBrowse link
G Tsg101 tumor susceptibility gene 101 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 7:46,538,693...46,569,716
Ensembl chr 7:46,538,697...46,569,717
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 7:46,572,964...46,608,275
Ensembl chr 7:46,572,964...46,608,275
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 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927
JBrowse link
G Zdhhc13 zinc finger, DHHC domain containing 13 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 7 ClinVar PMID:28492532 NCBI chr 7:48,438,751...48,477,188
Ensembl chr 7:48,438,751...48,477,188
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 8:70,672,822...70,687,099
Ensembl chr 8:70,672,822...70,687,116
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 8:70,592,149...70,601,285
Ensembl chr 8:70,592,149...70,599,969
JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19243074 PMID:24033266 More... NCBI chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242
JBrowse link
G Comp cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 8:70,826,186...70,834,721
Ensembl chr 8:70,826,208...70,834,716
JBrowse link
G Cope coatomer protein complex, subunit epsilon ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 8:70,755,417...70,765,652
Ensembl chr 8:70,755,168...70,765,643
JBrowse link
G Ddx49 DEAD box helicase 49 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 8:70,745,516...70,755,121
Ensembl chr 8:70,745,516...70,755,139
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 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242
JBrowse link
G Homer3 homer scaffolding protein 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 8:70,735,529...70,747,011
Ensembl chr 8:70,735,477...70,747,011
JBrowse link
G Mef2b myocyte enhancer factor 2B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 8:70,605,411...70,620,138
Ensembl chr 8:70,592,361...70,620,138
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 8:70,583,977...70,586,402
Ensembl chr 8:70,583,983...70,586,399
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 8:70,583,456...70,591,847
Ensembl chr 8:70,583,444...70,591,804
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 8:70,636,990...70,664,931
Ensembl chr 8:70,636,990...70,664,955
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 8:70,686,838...70,715,755
Ensembl chr 8:70,686,876...70,732,565
JBrowse link
G Tmem161a transmembrane protein 161A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8 ClinVar PMID:28492532 NCBI chr 8:70,624,979...70,636,331
Ensembl chr 8:70,625,006...70,636,331
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 8:70,784,143...70,806,418
Ensembl chr 8:70,784,175...70,805,928
JBrowse link
progressive myoclonus epilepsy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2010315B03Rik RIKEN cDNA 2010315B03 gene ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 9:124,054,432...124,075,349
Ensembl chr 9:124,054,434...124,075,326
JBrowse link
G 2310011J03Rik RIKEN cDNA 2310011J03 gene ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,154,089...80,156,382
Ensembl chr10:80,154,088...80,156,371
JBrowse link
G Abhd17a abhydrolase domain containing 17A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,419,483...80,426,199
Ensembl chr10:80,419,488...80,426,175
JBrowse link
G Adamtsl5 ADAMTS-like 5 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,175,655...80,184,246
Ensembl chr10:80,174,944...80,184,246
JBrowse link
G Adat3 adenosine deaminase, tRNA-specific 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,438,714...80,443,488
Ensembl chr10:80,441,855...80,451,618
Ensembl chr10:80,441,855...80,451,618
JBrowse link
G Amh anti-Mullerian hormone ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,641,074...80,643,513
Ensembl chr10:80,641,077...80,643,482
JBrowse link
G Ap3d1 adaptor-related protein complex 3, delta 1 subunit ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,542,790...80,578,137
Ensembl chr10:80,542,790...80,578,098
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 chr10:80,131,790...80,154,091
Ensembl chr10:80,131,811...80,154,097
JBrowse link
G Atp8b3 ATPase, class I, type 8B, member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,355,418...80,374,987
Ensembl chr10:80,355,418...80,374,958
JBrowse link
G Btbd2 BTB domain containing 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,478,457...80,492,328
Ensembl chr10:80,478,451...80,492,328
JBrowse link
G Csnk1g2 casein kinase 1, gamma 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,458,465...80,476,605
Ensembl chr10:80,458,672...80,476,583
JBrowse link
G Diras1 DIRAS family, GTP-binding RAS-like 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,855,423...80,862,038
Ensembl chr10:80,855,423...80,861,496
JBrowse link
G Dot1l DOT1 like histone lysine methyltransferase ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,590,935...80,631,295
Ensembl chr10:80,591,040...80,631,295
JBrowse link
G Gadd45b growth arrest and DNA-damage-inducible 45 beta ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,765,925...80,768,038
Ensembl chr10:80,765,907...80,768,038
JBrowse link
G Gna11 guanine nucleotide binding protein, alpha 11 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:81,364,558...81,380,996
Ensembl chr10:81,364,558...81,381,024
JBrowse link
G Gng7 guanine nucleotide binding protein (G protein), gamma 7 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,784,463...80,850,742
Ensembl chr10:80,784,458...80,850,779
JBrowse link
G Izumo4 IZUMO family member 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,537,858...80,541,216
Ensembl chr10:80,538,018...80,541,207
JBrowse link
G Klf16 Kruppel-like transcription factor 16 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,402,955...80,413,130
Ensembl chr10:80,402,958...80,413,155
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 chr10:80,668,635...80,679,873
Ensembl chr10:80,668,635...80,679,873
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 chr10:80,737,197...80,754,079
Ensembl chr10:80,737,037...80,754,079
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 chr10:80,688,659...80,691,043
Ensembl chr10:80,688,655...80,691,043
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 chr10:80,228,373...80,235,365
Ensembl chr10:80,228,373...80,235,384
JBrowse link
G Mex3d mex3 RNA binding family member D ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,216,189...80,223,485
Ensembl chr10:80,216,189...80,223,493
JBrowse link
G Mknk2 MAP kinase-interacting serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,501,152...80,512,264
Ensembl chr10:80,501,161...80,513,946
JBrowse link
G Mob3a MOB kinase activator 3A ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,521,087...80,537,845
Ensembl chr10:80,521,087...80,537,811
JBrowse link
G Oaz1 ornithine decarboxylase antizyme 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,662,490...80,665,124
Ensembl chr10:80,662,516...80,665,124
JBrowse link
G Onecut3 one cut domain, family member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,330,740...80,353,100
Ensembl chr10:80,330,669...80,353,110
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 chr10:80,157,117...80,165,583
Ensembl chr10:80,157,117...80,165,332
JBrowse link
G Plekhj1 pleckstrin homology domain containing, family J member 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,631,933...80,634,404
Ensembl chr10:80,631,933...80,634,460
JBrowse link
G Plk5 polo like kinase 5 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,192,293...80,201,323
Ensembl chr10:80,192,293...80,201,323
JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,165,831...80,172,275
Ensembl chr10:80,165,787...80,172,275
JBrowse link
G Rexo1 REX1, RNA exonuclease 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,376,759...80,400,624
Ensembl chr10:80,376,756...80,397,394
JBrowse link
G Scamp4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,438,716...80,451,617
Ensembl chr10:80,438,706...80,451,617
JBrowse link
G Sf3a2 splicing factor 3a, subunit 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,634,569...80,640,756
Ensembl chr10:80,634,032...80,640,758
JBrowse link
G Sgta small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,879,905...80,896,105
Ensembl chr10:80,879,909...80,896,015
JBrowse link
G Slc39a3 solute carrier family 39 (zinc transporter), member 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,864,374...80,873,169
Ensembl chr10:80,864,372...80,873,260
JBrowse link
G Sppl2b signal peptide peptidase like 2B ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,691,067...80,704,542
Ensembl chr10:80,691,109...80,704,542
JBrowse link
G Tcf3 transcription factor 3 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,245,375...80,269,814
Ensembl chr10:80,245,348...80,269,481
JBrowse link
G Thop1 thimet oligopeptidase 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,905,917...80,918,194
Ensembl chr10:80,905,869...80,918,393
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 chr10:80,735,284...80,736,803
Ensembl chr10:80,735,284...80,736,803
JBrowse link
G Tle2 transducin-like enhancer of split 2 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:81,410,573...81,435,018
Ensembl chr10:81,410,395...81,426,679
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 chr10:81,395,278...81,402,205
Ensembl chr10:81,395,322...81,402,196
JBrowse link
G Tle6 transducin-like enhancer of split 6 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:81,426,738...81,437,021
Ensembl chr10:81,426,738...81,436,907
JBrowse link
G Tmprss9 transmembrane protease, serine 9 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr10:80,706,951...80,735,329
Ensembl chr10:80,707,682...80,735,326
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 chr10:80,238,831...80,242,655
Ensembl chr10:80,238,831...80,242,664
JBrowse link
G Zfp747l1 zinc finger protein 747 like 1 ISO ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9 ClinVar PMID:28492532 NCBI chr 7:126,981,432...126,986,338
Ensembl chr 7:126,981,432...126,986,338
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 chr 8:41,793,683...41,850,681
Ensembl chr 8:41,793,234...41,827,810
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
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Unverricht-Lundborg syndrome
OMIM:254800
CTD
ClinVar
OMIM
MouseDO
PMID:8596935 PMID:9012407 PMID:9054946 PMID:9342192 PMID:9360639 More... NCBI chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16271
    Pathological Conditions, Signs and Symptoms 12655
      Signs and Symptoms 10543
        Neurologic Manifestations 10201
          Dyskinesias 2219
            Myoclonus 420
              Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 0
              Familial Convulsive Disorder with Prenatal or Early Onset 0
              Familial Myoclonus 1 1
              Familial Myoclonus 2 1
              Feigenbaum Bergeron Richardson Syndrome 0
              Herrmann Syndrome 0
              Myoclonic Epilepsies + 414
              Myoclonic Nystagmus 0
              Myoclonus, Cerebellar Ataxia, and Deafness 0
              Neonatal Intractable Myoclonus 1
              Opsoclonus-Myoclonus Syndrome + 3
              Progressive External Ophthalmoplegia with Myoclonus 1
Path 2
Term Annotations click to browse term
  disease 16271
    disease of anatomical entity 15862
      nervous system disease 13796
        central nervous system disease 12314
          brain disease 11556
            movement disease 2613
              Dyskinesias 2219
                Myoclonus 420
                  Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia 0
                  Familial Convulsive Disorder with Prenatal or Early Onset 0
                  Familial Myoclonus 1 1
                  Familial Myoclonus 2 1
                  Feigenbaum Bergeron Richardson Syndrome 0
                  Herrmann Syndrome 0
                  Myoclonic Epilepsies + 414
                  Myoclonic Nystagmus 0
                  Myoclonus, Cerebellar Ataxia, and Deafness 0
                  Neonatal Intractable Myoclonus 1
                  Opsoclonus-Myoclonus Syndrome + 3
                  Progressive External Ophthalmoplegia with Myoclonus 1
paths to the root