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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:Generalized Epilepsy
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Accession:DOID:9001793 term browser browse the term
Definition:Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)
Synonyms:exact_synonym: Akinetic Epilepsy;   Atonic Epilepsies;   Atonic Epilepsy;   Convulsive Generalized Seizure Disorder;   EPILEPTIC ENCEPHALOPATHY;   GENERALIZED-ONSET SEIZURE;   Generalized Convulsive Epilepsies;   Generalized Convulsive Epilepsy;   Generalized Epilepsies;   Generalized Nonconvulsive Epilepsy;   Generalized Nonconvulsive Seizure Disorder;   Generalized Onset Seizure Disorder;   Generalized Seizure Disorder;   Generalized Seizure Disorders;   Symptomatic Generalized Epilepsy;   Tonic Epilepsies;   akinetic epilepsies;   tonic epilepsy
 primary_id: MESH:D004829
 xref: EFO:0005917

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Generalized Epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr  X:99,453,714...99,535,658
Ensembl chr  X:99,453,810...99,535,654 		JBrowse link
G ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr12:40,631,235...40,695,920
Ensembl chr12:40,631,467...40,697,393 		JBrowse link
G ANP32B acidic nuclear phosphoprotein 32 family member B ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr12:41,400,796...41,432,756
Ensembl chr12:41,401,188...41,432,711 		JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:18414213 PMID:27889060 NCBI chr29:2,943,836...2,994,655
Ensembl chr29:2,943,919...2,994,700 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:16538223 PMID:17473835 PMID:22117059 PMID:25741868 PMID:28492532 More... NCBI chr20:3,801,044...3,828,680
Ensembl chr20:3,802,887...3,828,692 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:32581362 NCBI chr 6:36,166,586...36,195,343
Ensembl chr 6:36,166,262...36,195,363 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220 		JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:2679931 PMID:9671269 PMID:10790207 PMID:11243728 PMID:11690702 More... NCBI chr 3:29,817,712...29,899,302
Ensembl chr 3:29,816,860...29,899,077 		JBrowse link
G AVEN apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25262651 PMID:25741868 PMID:28492532 NCBI chr26:48,868,244...49,048,037
Ensembl chr26:48,868,475...49,050,258 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:10371528 PMID:12420090 PMID:19486177 PMID:20129625 PMID:20396531 More... NCBI chr 6:11,883,353...12,307,023 JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr22:11,751,026...11,891,407
Ensembl chr22:11,749,727...11,890,924 		JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10762541 RGD:734674 NCBI chr10:37,240,749...37,518,174
Ensembl chr10:37,246,991...37,388,059 		JBrowse link
G CCDC57 coiled-coil domain containing 57 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:74,011,224...74,089,976 JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:18414213 PMID:20397747 PMID:25741868 PMID:28492532 PMID:34837432 NCBI chr  X:16,955,540...17,101,513 JBrowse link
G CFAP96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 7:131,375,653...131,399,429
Ensembl chr 7:131,375,619...131,399,235 		JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19136953 NCBI chr26:50,554,143...50,686,847
Ensembl chr26:50,551,829...50,686,803 		JBrowse link
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Generalized-onset seizure ClinVar PMID:25741868 PMID:26475232 PMID:28492532 NCBI chr20:9,245,803...9,255,430
Ensembl chr20:9,247,231...9,253,795 		JBrowse link
G CORO2A coronin 2A ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr12:41,226,972...41,294,742
Ensembl chr12:41,227,349...41,295,468 		JBrowse link
G CSNK1D casein kinase 1 delta ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:74,157,875...74,192,142
Ensembl chr16:74,160,648...74,192,108 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A ISO ClinVar Annotator: match by term: Generalized-onset seizure ClinVar PMID:25167861 PMID:25326635 PMID:25641759 PMID:25741868 PMID:25920557 More... NCBI chr 2:81,318,509...81,467,227
Ensembl chr 2:81,425,902...81,467,677 		JBrowse link
G EPHA4 EPH receptor A4 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr10:107,344,442...107,501,375
Ensembl chr10:107,352,530...107,499,788 		JBrowse link
G FASN fatty acid synthase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:21937992 PMID:25741868 PMID:28166811 More... NCBI chr16:73,988,410...74,008,374
Ensembl chr16:73,982,899...74,006,551 		JBrowse link
G FN3K fructosamine 3 kinase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:74,634,631...74,645,567 JBrowse link
G FN3KRP fructosamine 3 kinase related protein ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:74,611,687...74,625,621
Ensembl chr16:74,611,703...74,626,289 		JBrowse link
G FOLR1 folate receptor alpha ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr 1:63,405,513...63,413,372
Ensembl chr 1:63,406,597...63,413,352 		JBrowse link
G FOXE1 forkhead box E1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr12:41,555,901...41,559,914
Ensembl chr12:41,557,568...41,558,686 		JBrowse link
G FOXK2 forkhead box K2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:74,426,111...74,506,453
Ensembl chr16:74,426,105...74,503,373 		JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26740508 More... NCBI chr12:40,719,126...41,135,602
Ensembl chr12:40,719,577...41,135,770 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr23:64,199,372...64,255,996
Ensembl chr23:64,200,752...64,255,996 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:27864847 PMID:28492532 PMID:30185235 PMID:32581362 More... NCBI chr26:55,319,667...55,543,116
Ensembl chr26:55,471,907...55,538,855 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr20:129,530,049...129,541,437
Ensembl chr20:129,529,108...129,541,580 		JBrowse link
G GALNT12 polypeptide N-acetylgalactosaminyltransferase 12 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr12:40,576,628...40,619,747
Ensembl chr12:40,576,594...40,619,697 		JBrowse link
G GLDC glycine decarboxylase ISO ClinVar Annotator: match by term: Generalized epilepsy ClinVar PMID:10873393 PMID:11286506 PMID:12126939 PMID:15670722 PMID:15791207 More... NCBI chr12:72,876,992...72,990,671
Ensembl chr12:72,877,017...72,990,668 		JBrowse link
G GNAO1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26485252 PMID:28357411 More... NCBI chr 5:42,105,295...42,272,573
Ensembl chr 5:42,105,334...42,273,059 		JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:32581362
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:9,233,028...9,707,322
Ensembl chr 5:9,286,775...9,462,828 		JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr11:13,444,155...13,873,034
Ensembl chr11:13,456,968...13,873,202 		JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:30351409 NCBI chr 4:44,029,173...44,443,669 JBrowse link
G HEMGN hemogen ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr12:41,466,877...41,485,199
Ensembl chr12:41,473,501...41,485,182 		JBrowse link
G HEXD hexosaminidase D ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:74,338,079...74,360,649
Ensembl chr16:74,339,326...74,360,407 		JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:22678713 PMID:25326635 PMID:25741868 PMID:28283832 PMID:28492532 More... NCBI chr25:81,879,532...81,890,684
Ensembl chr25:81,878,111...81,890,701 		JBrowse link
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr27:47,778,220...47,794,435
Ensembl chr27:47,778,335...47,794,352 		JBrowse link
G ITSN1 intersectin 1 ISO ClinVar Annotator: match by term: Generalized-onset seizure ClinVar PMID:25741868 NCBI chr 2:58,298,529...58,543,297
Ensembl chr 2:58,301,399...58,543,281 		JBrowse link
G JRK Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 8:136,896,858...136,916,951
Ensembl chr 8:136,911,217...136,912,923 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr11:4,956,824...4,963,732
Ensembl chr11:4,956,856...4,958,343 		JBrowse link
G KCNA6 potassium voltage-gated channel subfamily A member 6 ISO ClinVar Annotator: match by term: Generalized-onset seizure ClinVar PMID:25741868 NCBI chr11:4,853,706...4,894,406
Ensembl chr11:4,854,570...4,856,162 		JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:3153310 PMID:25164438 PMID:25741868 PMID:26477325 PMID:28492532 More... NCBI chr 2:14,510,176...14,623,054
Ensembl chr 2:14,510,464...14,619,023 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:20437616 PMID:23621294 PMID:23692823 PMID:23934111 PMID:24318194 More... NCBI chr 2:739,965...803,575
Ensembl chr 2:761,952...802,999 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr12:2,410,520...2,502,176
Ensembl chr12:2,408,751...2,486,858 		JBrowse link
G KCTD7 potassium channel tetramerization domain containing 7 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 PMID:30295347 PMID:32581362 PMID:37541188 NCBI chr28:2,255,817...2,276,616
Ensembl chr28:2,256,743...2,271,099 		JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 7:60,407,137...60,429,885
Ensembl chr 7:60,406,618...60,430,080 		JBrowse link
G LOC103219558 serine/threonine-protein kinase SIK1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 2:87,204,386...87,217,044
Ensembl chr 2:87,204,357...87,216,180 		JBrowse link
G LOC103243765 T-cell antigen CD7 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:74,234,604...74,237,479
Ensembl chr16:74,234,611...74,237,424 		JBrowse link
G LOC103243771 cytochrome b-245 chaperone 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:74,361,248...74,367,686
Ensembl chr16:74,359,591...74,367,626 		JBrowse link
G MAPK10 mitogen-activated protein kinase 10 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 7:34,394,600...34,725,658
Ensembl chr 7:34,399,544...34,564,212 		JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:128,445,028...128,519,892
Ensembl chr  X:128,453,577...128,455,785 		JBrowse link
G MEF2C myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:32581362 NCBI chr 4:82,702,378...82,887,491
Ensembl chr 4:82,706,738...82,788,152 		JBrowse link
G MTRFR mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:20598281 PMID:25326635 PMID:25741868 PMID:26539891 PMID:32581362 NCBI chr11:118,576,548...118,599,035
Ensembl chr11:118,576,618...118,598,106 		JBrowse link
G NANS N-acetylneuraminate synthase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr12:41,339,636...41,363,920
Ensembl chr12:41,334,900...41,363,855 		JBrowse link
G NARF nuclear prelamin A recognition factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:74,374,080...74,401,018
Ensembl chr16:74,374,015...74,403,453 		JBrowse link
G NCBP1 nuclear cap binding protein subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr12:41,736,063...41,776,178
Ensembl chr12:41,738,579...41,776,509 		JBrowse link
G OGFOD3 2-oxoglutarate and iron dependent oxygenase domain containing 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:74,304,837...74,337,948
Ensembl chr16:74,303,756...74,338,815 		JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:88,613,546...88,730,740
Ensembl chr  X:88,616,743...88,730,519 		JBrowse link
G PGK1 phosphoglycerate kinase 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:67,072,029...67,093,881 JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:13,787,658...13,803,575
Ensembl chr  X:13,787,646...13,803,405 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 6:43,018,763...43,025,506
Ensembl chr 6:43,018,807...43,025,292 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:8052858 PMID:8524402 PMID:25741868 PMID:28492532 PMID:28942967 More... NCBI chr 7:49,149,044...49,478,796
Ensembl chr 7:49,148,933...49,321,013 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 5:59,058,827...59,106,177
Ensembl chr 5:59,058,846...59,106,106 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146 		JBrowse link
G PURA purine rich element binding protein A ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:32581362 NCBI chr23:42,757,963...42,767,393
Ensembl chr23:42,764,263...42,765,231 		JBrowse link
G RAB40B RAB40B, member RAS oncogene family ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:74,558,970...74,595,967
Ensembl chr16:74,559,763...74,595,841 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:17,089,382...17,105,145
Ensembl chr  X:17,089,598...17,118,447 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized epilepsy ClinVar PMID:11359211 PMID:14504318 PMID:17054684 PMID:17347258 PMID:18930999 More... NCBI chr10:51,490,204...51,653,916 JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:31465153 NCBI chr 6:29,962,993...29,972,845
Ensembl chr 6:29,962,843...29,973,325 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:18414213 PMID:20956790 PMID:23550958 PMID:23708187 PMID:25326635 More... NCBI chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:24888894 PMID:25568300 PMID:25741868 PMID:25951352 PMID:26029160 More... NCBI chr11:47,770,513...47,983,843
Ensembl chr11:47,838,358...47,978,399 		JBrowse link
G SECTM1 secreted and transmembrane 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:74,240,021...74,261,333 JBrowse link
G SLC13A5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:32581362 NCBI chr16:6,060,445...6,089,867 JBrowse link
G SLC16A3 solute carrier family 16 member 3 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:74,146,799...74,157,626
Ensembl chr16:74,150,110...74,158,112 		JBrowse link
G SLC26A1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr27:47,787,201...47,802,834
Ensembl chr27:47,789,705...47,793,743 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr  X:46,020,241...46,030,205
Ensembl chr  X:46,017,681...46,030,200 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 More... NCBI chr  X:49,514,652...49,558,490
Ensembl chr  X:49,515,061...49,558,447 		JBrowse link
G SP9 Sp9 transcription factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:38288683 NCBI chr10:59,842,869...59,852,780
Ensembl chr10:59,849,326...59,851,818 		JBrowse link
G STX1B syntaxin 1B ISO ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized epilepsy ClinVar PMID:25741868 NCBI chr 5:27,683,526...27,702,032
Ensembl chr 5:27,684,082...27,694,814 		JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:20887364 PMID:21762454 PMID:23934111 PMID:24033266 PMID:25533962 More... NCBI chr12:10,440,061...10,519,798
Ensembl chr12:10,439,801...10,519,777 		JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 NCBI chr17:38,612,777...38,646,382
Ensembl chr17:38,617,679...38,646,192 		JBrowse link
G TBC1D2 TBC1 domain family member 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr12:41,160,921...41,221,547
Ensembl chr12:41,161,695...41,222,815 		JBrowse link
G TBCD tubulin folding cofactor D ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:74,646,620...74,828,874
Ensembl chr16:74,646,464...74,828,163 		JBrowse link
G TDRD7 tudor domain containing 7 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr12:41,903,454...41,984,534
Ensembl chr12:41,903,448...41,984,442 		JBrowse link
G TEX19 testis expressed 19 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:74,269,731...74,272,047
Ensembl chr16:74,270,403...74,270,897 		JBrowse link
G TMOD1 tropomodulin 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr12:41,808,594...41,899,713
Ensembl chr12:41,811,036...41,877,357 		JBrowse link
G TNK2 tyrosine kinase non receptor 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr15:91,187,702...91,232,391
Ensembl chr15:91,201,008...91,232,399 		JBrowse link
G TRIM14 tripartite motif containing 14 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr12:41,303,240...41,359,509
Ensembl chr12:41,303,404...41,335,492 		JBrowse link
G TRIT1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:32088416 NCBI chr20:93,017,385...93,065,601
Ensembl chr20:93,017,428...93,064,904 		JBrowse link
G TRMO tRNA methyltransferase O ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr12:41,488,999...41,514,982
Ensembl chr12:41,489,430...41,510,627 		JBrowse link
G TSTD2 thiosulfate sulfurtransferase like domain containing 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr12:41,775,926...41,809,761
Ensembl chr12:41,775,621...41,811,554 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 7:131,352,140...131,375,558
Ensembl chr 7:131,350,251...131,375,549 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:25741868 PMID:32001716 PMID:32860008 NCBI chr27:10,781,324...10,810,595
Ensembl chr27:10,781,502...10,810,817 		JBrowse link
G USP19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar NCBI chr22:10,510,554...10,523,576
Ensembl chr22:10,510,423...10,523,487 		JBrowse link
G UTS2R urotensin 2 receptor ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:74,284,472...74,291,074
Ensembl chr16:74,288,333...74,289,502 		JBrowse link
G WASF1 WASP family member 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:29961568 PMID:32581362 NCBI chr13:63,718,784...63,793,024
Ensembl chr13:63,718,737...63,793,151 		JBrowse link
G WDR45B WD repeat domain 45B ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:74,514,729...74,549,860
Ensembl chr16:74,512,231...74,550,105 		JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:24456803 PMID:25411445 PMID:25741868 PMID:27848944 PMID:28492532 More... NCBI chr 5:63,580,049...64,698,212
Ensembl chr 5:63,580,741...63,916,157 		JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr12:41,711,872...41,735,024
Ensembl chr12:41,711,943...41,725,698 		JBrowse link
G ZNF750 zinc finger protein 750 ISO ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:74,720,080...74,731,951
Ensembl chr16:74,720,763...74,723,075 		JBrowse link
childhood absence epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:752T>A (p.M251K)(rat)		 CTD
RGD		 PMID:17196942 RGD:1598976 NCBI chr 6:11,883,353...12,307,023 JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: CACNA1H-related disorder ClinVar PMID:9536098 PMID:17576681 PMID:17696120 PMID:25741868 PMID:26467025 More... NCBI chr 5:1,039,709...1,106,212
Ensembl chr 5:1,078,973...1,106,507 		JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr22:11,751,026...11,891,407
Ensembl chr22:11,749,727...11,890,924 		JBrowse link
G CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO mRNA,protein:increased expression:somatosensory cortex, primary motor cortex RGD PMID:18556211 RGD:13524553 NCBI chr19:19,263,950...19,406,952
Ensembl chr19:19,267,426...19,406,883 		JBrowse link
G CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 ISO RGD PMID:11904235 RGD:728397 NCBI chr 5:21,975,706...22,081,428
Ensembl chr 5:21,976,428...22,081,547 		JBrowse link
G EFHC1 EF-hand domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:20,011,684...20,083,639
Ensembl chr17:20,011,530...20,083,592 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 ClinVar PMID:16718694 PMID:25741868 PMID:28492532 NCBI chr23:64,199,372...64,255,996
Ensembl chr23:64,200,752...64,255,996 		JBrowse link
G GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr23:64,020,770...64,038,419
Ensembl chr23:64,021,842...64,039,563 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs		 CTD
RGD		 PMID:16835263 PMID:18514161 RGD:1601269 NCBI chr26:55,319,667...55,543,116
Ensembl chr26:55,471,907...55,538,855 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO DNA:snp:intron:IVS6+2T>G (human) RGD PMID:12117362 RGD:1358631 NCBI chr23:64,422,519...64,512,124
Ensembl chr23:64,422,391...64,513,652 		JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chr 9:44,653,044...44,690,142
Ensembl chr 9:44,653,289...44,688,954 		JBrowse link
G GRIK1 glutamate ionotropic receptor kainate type subunit 1 ISO RGD PMID:9259378 RGD:1358334 NCBI chr 2:62,286,828...62,692,061 JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO RGD PMID:15182313 RGD:9686420 NCBI chr 4:44,029,173...44,443,669 JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO RGD PMID:15050708 RGD:6480686 NCBI chr 9:84,081,713...84,191,112
Ensembl chr 9:84,083,396...84,190,876 		JBrowse link
G JRK Jrk helix-turn-helix protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 8:136,896,858...136,916,951
Ensembl chr 8:136,911,217...136,912,923 		JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chr 8:133,872,599...133,964,259
Ensembl chr 8:133,869,524...133,964,415 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 ISO DNA:point mutation: :c.1914G>A (human) RGD PMID:14505228 RGD:1302591 NCBI chr 6:30,057,248...30,075,435
Ensembl chr 6:30,057,917...30,067,696 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:20303372 RGD:8547934 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:29,962,993...29,972,845
Ensembl chr 6:29,962,843...29,973,325 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 onset ISO DNA:deletion, missense mutations, SNP:multiple RGD PMID:26537434 RGD:11058811 NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033 		JBrowse link
Childhood Absence Epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP10A ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr26:56,230,006...56,416,398
Ensembl chr26:56,230,723...56,417,052 		JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26068938 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr26:55,147,512...55,227,801
Ensembl chr26:55,147,511...55,227,297 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 1 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:2828157 PMID:8382702 PMID:9536098 PMID:11198279 PMID:11742254 More... NCBI chr26:55,319,667...55,543,116
Ensembl chr26:55,471,907...55,538,855 		JBrowse link
G GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26068938 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr26:54,570,497...55,126,712 JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:26068938 PMID:28492532 NCBI chr26:53,760,172...54,007,356
Ensembl chr26:53,792,593...54,007,489 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:26068938 PMID:26950270 PMID:28053010 PMID:28492532 NCBI chr26:54,022,346...54,429,991
Ensembl chr26:54,039,197...54,352,774 		JBrowse link
G RORB RAR related orphan receptor B ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:25950944 NCBI chr12:85,545,609...85,735,804
Ensembl chr12:85,545,608...85,732,780 		JBrowse link
Childhood Absence Epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2 ClinVar PMID:16718694 PMID:22190369 PMID:22539854 PMID:22750526 PMID:24407264 More... NCBI chr23:64,199,372...64,255,996
Ensembl chr23:64,200,752...64,255,996 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 2 | ClinVar Annotator: match by term: GABRG2-related disorder ClinVar PMID:9536098 PMID:11326275 PMID:12097483 PMID:12117362 PMID:15342642 More... NCBI chr23:64,422,519...64,512,124
Ensembl chr23:64,422,391...64,513,652 		JBrowse link
Childhood Absence Epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, childhood absence 5 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 5 ClinVar
OMIM		 PMID:18514161 PMID:19935738 PMID:20550555 PMID:22303015 PMID:23934111 More... NCBI chr26:55,319,667...55,543,116
Ensembl chr26:55,471,907...55,538,855 		JBrowse link
Childhood Absence Epilepsy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1H calcium voltage-gated channel subunit alpha1 H susceptibility ISO ClinVar Annotator: match by term: Epilepsy, childhood absence 6 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 6 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 6 ClinVar
OMIM		 PMID:9536098 PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 More... NCBI chr 5:1,039,709...1,106,212
Ensembl chr 5:1,078,973...1,106,507 		JBrowse link
epilepsy with generalized tonic-clonic seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15121994 NCBI chr15:23,708,121...23,778,027
Ensembl chr15:23,708,155...23,778,286 		JBrowse link
G BDNF brain derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336 		JBrowse link
G CUX2 cut like homeobox 2 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar NCBI chr11:106,462,877...106,602,847 JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16835697 NCBI chr19:24,667,207...24,672,580
Ensembl chr19:24,667,282...24,671,513 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 7:70,089,394...70,157,423 JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:27108799 PMID:28087732 PMID:29694806 PMID:30194818 More... NCBI chr20:129,654,890...129,765,765
Ensembl chr20:129,707,085...129,766,667 		JBrowse link
G HBEGF heparin binding EGF like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr23:42,981,640...42,995,116
Ensembl chr23:42,981,640...42,994,995 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 ISO RGD PMID:22206926 RGD:10047237 NCBI chr11:4,956,824...4,963,732
Ensembl chr11:4,956,856...4,958,343 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO protein:decreased expression:dorsal plus ventral thalamus, cerebral cortex, astrocyte projection RGD PMID:23603404 RGD:8662897 NCBI chr20:3,873,915...3,907,587
Ensembl chr20:3,902,513...3,903,652 		JBrowse link
G LGI1 leucine rich glioma inactivated 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr 9:86,993,964...87,033,725
Ensembl chr 9:86,994,307...87,035,807 		JBrowse link
G LIG1 DNA ligase 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr 6:41,354,701...41,405,417
Ensembl chr 6:41,351,389...41,403,421 		JBrowse link
G MBD5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:28492532 NCBI chr10:33,401,903...33,907,307
Ensembl chr10:33,743,166...33,904,508 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G NEFH neurofilament heavy chain ISO protein:increased expression:cerebral spinal fluid RGD PMID:22509781 RGD:7257648 NCBI chr19:12,357,982...12,375,449 JBrowse link
G NES nestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16137769 NCBI chr20:7,185,208...7,193,964
Ensembl chr20:7,185,390...7,193,983 		JBrowse link
G NGF nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr20:18,361,795...18,413,987
Ensembl chr20:18,413,108...18,413,833 		JBrowse link
G NTF3 neurotrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr11:5,477,208...5,542,404 JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:4988877 PMID:6407273 NCBI chr 2:33,749,520...33,750,981
Ensembl chr 2:33,750,108...33,750,968 		JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr  X:88,613,546...88,730,740
Ensembl chr  X:88,616,743...88,730,519 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4371370 NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 More... NCBI chr10:51,490,204...51,653,916 JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr11:47,770,513...47,983,843
Ensembl chr11:47,838,358...47,978,399 		JBrowse link
G SNAP25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Epilepsy with generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:33299146 NCBI chr 2:27,857,093...27,944,487
Ensembl chr 2:27,858,319...27,944,496 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:28492532 NCBI chr12:9,503,752...9,585,297
Ensembl chr12:9,503,367...9,585,268 		JBrowse link
generalized epilepsy with febrile seizures plus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO4 anoctamin 4 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar PMID:25741868 NCBI chr11:96,013,244...96,415,282
Ensembl chr11:96,094,823...96,413,721 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar NCBI chr23:64,422,519...64,512,124
Ensembl chr23:64,422,391...64,513,652 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar PMID:24337656 PMID:25741868 PMID:26467025 PMID:27781031 PMID:28492532 More... NCBI chr10:51,490,204...51,653,916 JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 More... NCBI chr 6:29,962,993...29,972,845
Ensembl chr 6:29,962,843...29,973,325 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar NCBI chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar PMID:20478850 PMID:21698661 PMID:23232607 PMID:25741868 PMID:25995458 More... NCBI chr10:51,711,446...51,898,856
Ensembl chr10:51,714,931...51,829,621 		JBrowse link
G SLC32A1 solute carrier family 32 member 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar PMID:28842445 PMID:34038384 NCBI chr 2:25,028,028...25,032,975
Ensembl chr 2:25,026,609...25,032,916 		JBrowse link
G STX1B syntaxin 1B ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus ClinVar NCBI chr 5:27,683,526...27,702,032
Ensembl chr 5:27,684,082...27,694,814 		JBrowse link
generalized epilepsy with febrile seizures plus 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 ClinVar PMID:9126059 PMID:10521305 PMID:10742094 PMID:11254444 PMID:11254445 More... NCBI chr10:51,490,204...51,653,916 JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 OMIM
ClinVar		 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 More... NCBI chr 6:29,962,993...29,972,845
Ensembl chr 6:29,962,843...29,973,325 		JBrowse link
generalized epilepsy with febrile seizures plus 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO ClinVar Annotator: match by term: GEFS+, TYPE 10 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 10 OMIM
ClinVar		 PMID:24747641 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 More... NCBI chr 4:44,029,173...44,443,669 JBrowse link
generalized epilepsy with febrile seizures plus 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RELN reelin ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr21:72,440,988...72,951,173
Ensembl chr21:72,440,160...72,950,747 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: GEFS+, TYPE 2 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 OMIM
ClinVar		 PMID:1893009 PMID:1893099 PMID:9126059 PMID:9536098 PMID:10486327 More... NCBI chr10:51,490,204...51,653,916 JBrowse link
generalized epilepsy with febrile seizures plus 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSRNP3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr10:50,967,138...51,184,378
Ensembl chr10:51,073,480...51,182,389 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr10:51,237,150...51,284,301
Ensembl chr10:51,236,756...51,259,062 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr10:51,490,204...51,653,916 JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr10:50,563,560...50,679,179
Ensembl chr10:50,563,568...50,637,179 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7 ClinVar PMID:9536098 PMID:10514109 PMID:10852559 PMID:10852560 PMID:14985375 More... NCBI chr10:51,711,446...51,898,856
Ensembl chr10:51,714,931...51,829,621 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: GEFS+, TYPE 7 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr10:51,365,156...51,449,207
Ensembl chr10:51,364,889...51,449,183 		JBrowse link
generalized epilepsy with febrile seizures plus 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL7C BAF chromatin remodeling complex subunit BCL7C ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 5:27,518,716...27,577,695
Ensembl chr 5:27,570,726...27,577,538 		JBrowse link
G CFAP119 cilia and flagella associated protein 119 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 5:27,444,986...27,449,614
Ensembl chr 5:27,445,039...27,449,123 		JBrowse link
G FBXL19 F-box and leucine rich repeat protein 19 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 5:27,612,889...27,638,403
Ensembl chr 5:27,614,479...27,638,636 		JBrowse link
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:25362483 PMID:25741868 PMID:26818399 PMID:28492532 PMID:31273778 NCBI chr 5:27,675,591...27,680,011
Ensembl chr 5:27,676,502...27,679,046 		JBrowse link
G LOC103231119 cardiotrophin-1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 5:27,579,175...27,586,779
Ensembl chr 5:27,579,987...27,585,759 		JBrowse link
G ORAI3 ORAI calcium release-activated calcium modulator 3 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 5:27,637,919...27,644,585
Ensembl chr 5:27,638,731...27,644,829 		JBrowse link
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 5:27,438,975...27,444,922 JBrowse link
G RNF40 ring finger protein 40 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 5:27,449,633...27,462,591
Ensembl chr 5:27,449,908...27,463,754 		JBrowse link
G SETD1A SET domain containing 1A, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 5:27,645,908...27,675,500
Ensembl chr 5:27,648,378...27,674,860 		JBrowse link
G SRCAP Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 5:27,386,923...27,428,360
Ensembl chr 5:27,389,572...27,427,953 		JBrowse link
G STX1B syntaxin 1B ISO ClinVar Annotator: match by term: GEFS+, TYPE 9 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 | ClinVar Annotator: match by term: STX1B-related condition OMIM
ClinVar		 PMID:9536098 PMID:11591834 PMID:16199547 PMID:17576681 PMID:25362483 More... NCBI chr 5:27,683,526...27,702,032
Ensembl chr 5:27,684,082...27,694,814 		JBrowse link
G STX4 syntaxin 4 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:25362483 PMID:26818399 PMID:28492532 NCBI chr 5:27,725,121...27,734,442
Ensembl chr 5:27,724,495...27,732,736 		JBrowse link
G ZNF629 zinc finger protein 629 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:28492532 NCBI chr 5:27,466,199...27,476,063
Ensembl chr 5:27,466,162...27,472,607 		JBrowse link
G ZNF668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9 ClinVar PMID:25362483 PMID:26818399 PMID:28492532 NCBI chr 5:27,749,292...27,761,905
Ensembl chr 5:27,749,164...27,752,954 		JBrowse link
Generalized Epilepsy with Febrile Seizures Plus, Type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC32A1 solute carrier family 32 member 1 ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 12 OMIM
ClinVar		 PMID:25741868 PMID:28842445 PMID:34038384 PMID:36073542 NCBI chr 2:25,028,028...25,032,975
Ensembl chr 2:25,026,609...25,032,916 		JBrowse link
Generalized Epilepsy with Febrile Seizures Plus, Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: GEFS+, TYPE 3 ClinVar PMID:23708187 PMID:25726841 PMID:25730860 PMID:25741868 PMID:27864268 More... NCBI chr23:64,422,519...64,512,124
Ensembl chr23:64,422,391...64,513,652 		JBrowse link
Generalized Epilepsy with Febrile Seizures Plus, Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRD gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus type 5 ClinVar PMID:15115768 PMID:16023832 PMID:16256272 PMID:16452673 PMID:17559416 More... NCBI chr20:129,530,049...129,541,437
Ensembl chr20:129,529,108...129,541,580 		JBrowse link
idiopathic generalized epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274 		JBrowse link
G ADCY9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,641,359...3,796,697
Ensembl chr 5:3,641,349...3,796,198 		JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:22135276 PMID:24033266 PMID:24123792 PMID:25741868 PMID:28492532 More... NCBI chr 4:84,498,630...85,082,813
Ensembl chr 4:84,498,573...85,083,504 		JBrowse link
G AFMID arylformamidase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:70,200,453...70,224,190 JBrowse link
G AMDHD2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,394,229...2,403,949
Ensembl chr 5:2,394,295...2,405,897 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:130,036,072...130,042,036
Ensembl chr20:130,036,658...130,038,604 		JBrowse link
G ANKS3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:4,378,318...4,413,266
Ensembl chr 5:4,375,517...4,413,199 		JBrowse link
G ANTKMT adenine nucleotide translocase lysine methyltransferase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:639,508...642,305 JBrowse link
G ARHGDIG Rho GDP dissociation inhibitor gamma ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:226,760...229,449
Ensembl chr 5:227,202...229,274 		JBrowse link
G ARL5A ARF like GTPase 5A ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:37,206,303...37,236,255 JBrowse link
G ATAD3A ATPase family AAA domain containing 3A ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:129,965,964...129,987,866 JBrowse link
G ATP6V0C ATPase H+ transporting V0 subunit c ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,387,891...2,394,111
Ensembl chr 5:2,387,812...2,394,180 		JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:130,074,660...130,076,355
Ensembl chr20:130,075,295...130,076,765 		JBrowse link
G AXIN1 axin 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:233,520...295,134
Ensembl chr 5:234,060...290,575 		JBrowse link
G BAIAP3 BAI1 associated protein 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,222,994...1,237,823
Ensembl chr 5:1,227,910...1,236,898 		JBrowse link
G BICDL2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,771,079...2,782,134 JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:70,226,824...70,237,000 JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,105,125...2,107,353
Ensembl chr 5:2,105,235...2,106,695 		JBrowse link
G C1QTNF1 C1q and TNF related 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:70,993,035...71,018,240
Ensembl chr16:70,992,936...71,018,327 		JBrowse link
G C1QTNF8 C1q and TNF related 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:986,936...991,577
Ensembl chr 5:987,753...989,158 		JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy		 ClinVar PMID:9536098 PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 More... NCBI chr 5:1,039,709...1,106,212
Ensembl chr 5:1,078,973...1,106,507 		JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:9536098 PMID:10762541 PMID:17576681 PMID:18755274 PMID:25741868 More... NCBI chr10:37,240,749...37,518,174
Ensembl chr10:37,246,991...37,388,059 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532
G CANT1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:70,961,172...70,979,915
Ensembl chr16:70,960,301...70,979,857 		JBrowse link
G CAPN15 calpain 15 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:447,359...477,253 JBrowse link
G CARD14 caspase recruitment domain family member 14 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:72,152,673...72,193,299
Ensembl chr16:72,164,840...72,191,624 		JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,071,884...2,091,539
Ensembl chr 5:2,073,253...2,091,346 		JBrowse link
G CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756 		JBrowse link
G CBX2 chromobox 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:71,741,476...71,749,234
Ensembl chr16:71,741,500...71,751,817 		JBrowse link
G CBX4 chromobox 4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:71,795,919...71,802,184
Ensembl chr16:71,795,862...71,802,051 		JBrowse link
G CBX8 chromobox 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:71,755,598...71,760,611
Ensembl chr16:71,755,627...71,760,632 		JBrowse link
G CCDC154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,323,406...1,333,676
Ensembl chr 5:1,322,933...1,333,122 		JBrowse link
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:72,004,087...72,061,889 JBrowse link
G CCDC78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:642,500...646,337 JBrowse link
G CCNF cyclin F ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,302,249...2,336,188
Ensembl chr 5:2,302,341...2,335,270 		JBrowse link
G CDIP1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:4,201,578...4,230,583
Ensembl chr 5:4,199,922...4,230,533 		JBrowse link
G CEMP1 cementum protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,404,443...2,405,733 JBrowse link
G CFAP74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:129,555,060...129,626,465 JBrowse link
G CHTF18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:708,240...718,026
Ensembl chr 5:708,341...717,924 		JBrowse link
G CIAO3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:649,457...661,085
Ensembl chr 5:650,100...660,518 		JBrowse link
G CILK1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29539279 PMID:32178256 NCBI chr17:19,509,955...19,572,011
Ensembl chr17:19,510,106...19,572,002 		JBrowse link
G CLCN2 chloride voltage-gated channel 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:5,057,687...5,073,596
Ensembl chr15:5,057,900...5,073,184 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,355,558...1,383,755
Ensembl chr 5:1,355,016...1,383,695 		JBrowse link
G CLDN6 claudin 6 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,758,086...2,761,996
Ensembl chr 5:2,758,702...2,759,364 		JBrowse link
G CLDN9 claudin 9 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,755,023...2,757,879
Ensembl chr 5:2,756,747...2,757,400 		JBrowse link
G CLUAP1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,196,257...3,236,912 JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:130,124,705...130,128,745
Ensembl chr20:130,125,790...130,126,711 		JBrowse link
G CRAMP1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,523,591...1,589,254
Ensembl chr 5:1,524,015...1,589,344 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943 		JBrowse link
G CUNH16orf90 chromosome unknown C16orf90 homolog ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,190,148...3,192,091 JBrowse link
G CUNH16orf91 chromosome unknown C16orf91 homolog ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,308,401...1,309,898 JBrowse link
G CUNH16orf96 chromosome unknown C16orf96 homolog ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:4,245,799...4,286,742 JBrowse link
G CUNH17orf99 chromosome unknown C17orf99 homolog ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:70,172,850...70,178,358 JBrowse link
G CYTH1 cytohesin 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:70,652,979...70,755,697
Ensembl chr16:70,652,860...70,713,199 		JBrowse link
G DECR2 2,4-dienoyl-CoA reductase 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:342,006...357,369
Ensembl chr 5:342,038...357,392 		JBrowse link
G DNAAF8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:4,413,292...4,427,925 JBrowse link
G DNAH17 dynein axonemal heavy chain 17 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:70,422,079...70,571,126
Ensembl chr16:70,422,632...70,568,535 		JBrowse link
G DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:4,109,612...4,139,789 JBrowse link
G DNASE1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,310,853...3,352,483
Ensembl chr 5:3,310,824...3,339,870 		JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,130,879...2,133,817
Ensembl chr 5:2,131,854...2,133,524 		JBrowse link
G DNM1 dynamin 1 ISO OMIM:600669 | OMIM:604827 | OMIM:606972 | OMIM:607628 | OMIM:607682 | OMIM:608762 | OMIM:609750 | OMIM:611136 | OMIM:611934 | OMIM:612899 | OMIM:613060 | OMIM:614847 | OMIM:616685 MouseDO NCBI chr12:9,874,098...9,927,737
Ensembl chr12:9,878,966...9,927,744 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:130,105,032...130,118,978
Ensembl chr20:130,104,639...130,117,139 		JBrowse link
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,117,936...2,130,787
Ensembl chr 5:2,117,479...2,130,623 		JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,135,042...2,147,246
Ensembl chr 5:2,135,129...2,147,109 		JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:72,097,692...72,113,112 JBrowse link
G ELOB elongin B ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,564,662...2,570,035 JBrowse link
G EME2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,682,232...1,685,863
Ensembl chr 5:1,682,249...1,685,260 		JBrowse link
G ENGASE endo-beta-N-acetylglucosaminidase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:71,043,691...71,057,513
Ensembl chr16:71,046,160...71,057,629 		JBrowse link
G ENPP7 ectonucleotide pyrophosphatase/phosphodiesterase 7 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:71,693,148...71,701,517
Ensembl chr16:71,693,851...71,699,926 		JBrowse link
G FAAP20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:129,357,043...129,373,409
Ensembl chr20:129,357,089...129,362,518 		JBrowse link
G FAHD1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,731,150...1,732,086
Ensembl chr 5:1,731,239...1,731,913 		JBrowse link
G FAM234A family with sequence similarity 234 member A ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:198,854...211,791
Ensembl chr 5:198,575...211,845 		JBrowse link
G FBXL16 F-box and leucine rich repeat protein 16 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:612,449...625,530
Ensembl chr 5:610,490...625,493 		JBrowse link
G FLYWCH1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,654,583...2,689,184
Ensembl chr 5:2,670,081...2,690,582 		JBrowse link
G FNDC10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532
G GAA alpha glucosidase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:72,064,315...72,083,293
Ensembl chr16:72,067,267...72,083,349 		JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:9536098 PMID:16199547 PMID:16530959 PMID:16569738 PMID:16718694 More... NCBI chr23:64,199,372...64,255,996
Ensembl chr23:64,200,752...64,255,996 		JBrowse link
G GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:16718694 PMID:22190369 PMID:24811917 PMID:28492532 NCBI chr23:64,020,770...64,038,419
Ensembl chr23:64,021,842...64,039,563 		JBrowse link
G GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:16718694 PMID:22190369 PMID:24811917 PMID:28492532 NCBI chr23:63,636,094...63,894,587
Ensembl chr23:63,637,109...63,893,370 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:9536098 PMID:15115768 PMID:16023832 PMID:16199547 PMID:16256272 More... NCBI chr20:129,530,049...129,541,437
Ensembl chr20:129,529,108...129,541,580 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:16718694 PMID:22190369 PMID:22539854 PMID:22750526 PMID:24407264 More... NCBI chr23:64,422,519...64,512,124
Ensembl chr23:64,422,391...64,513,652 		JBrowse link
G GFER growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,880,025...1,886,829
Ensembl chr 5:1,879,968...1,883,696 		JBrowse link
G GLIS2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,996,333...4,019,499
Ensembl chr 5:3,996,372...4,019,542 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:129,654,890...129,765,765
Ensembl chr20:129,707,085...129,766,667 		JBrowse link
G GNG13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532
G GNPTG N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,240,291...1,251,141
Ensembl chr 5:1,239,693...1,255,165 		JBrowse link
G HAGH hydroxyacylglutathione hydrolase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,705,436...1,730,896
Ensembl chr 5:1,713,542...1,730,797 		JBrowse link
G HAGHL hydroxyacylglutathione hydrolase like ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:646,321...649,411 JBrowse link
G HCFC1R1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,765,934...2,767,593
Ensembl chr 5:2,766,170...2,767,248 		JBrowse link
G HMOX2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:4,157,402...4,201,223 JBrowse link
G HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,811,600...1,818,668
Ensembl chr 5:1,811,872...1,818,483 		JBrowse link
G IFT140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,419,432...1,523,342
Ensembl chr 5:1,415,664...1,521,843 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,698,787...1,704,205
Ensembl chr 5:1,698,978...1,701,972 		JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:130,128,828...130,139,580
Ensembl chr20:130,128,828...130,142,330 		JBrowse link
G JMJD8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:601,462...604,342
Ensembl chr 5:602,597...604,182 		JBrowse link
G JPT2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,589,553...1,611,592
Ensembl chr 5:1,589,631...1,613,046 		JBrowse link
G KCNIP1 potassium voltage-gated channel interacting protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar NCBI chr23:72,555,329...72,934,425
Ensembl chr23:72,910,263...72,934,422 		JBrowse link
G KCTD5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,451,537...2,468,686 JBrowse link
G KREMEN2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,695,217...2,707,983
Ensembl chr 5:2,697,410...2,707,606 		JBrowse link
G LMF1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:761,788...857,798
Ensembl chr 5:762,697...866,926 		JBrowse link
G LOC103225759 somatostatin receptor type 5 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:967,785...976,353
Ensembl chr 5:973,791...974,885 		JBrowse link
G LOC103225783 cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:129,848,297...129,873,287 JBrowse link
G LOC103225792 ATPase family AAA domain containing 3C ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:129,997,941...130,008,356 JBrowse link
G LOC103225798 cyclin-L2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:130,049,590...130,065,241
Ensembl chr20:130,049,646...130,065,881 		JBrowse link
G LOC103225805 taste receptor type 1 member 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:130,119,451...130,122,920
Ensembl chr20:130,119,804...130,122,903 		JBrowse link
G LOC103226816 ATP-binding cassette sub-family A member 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,171,487...2,218,851 JBrowse link
G LOC103226924 serine protease 21 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,520,825...2,532,693
Ensembl chr 5:2,526,827...2,532,107 		JBrowse link
G LOC103226980 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,632,390...2,644,964
Ensembl chr 5:2,641,727...2,644,739 		JBrowse link
G LOC103227360 olfactory receptor 2C1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,032,514...3,071,413
Ensembl chr 5:3,069,895...3,070,824 		JBrowse link
G LOC103227636 coronin-7 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:4,034,282...4,098,554
Ensembl chr 5:4,020,116...4,098,328 		JBrowse link
G LOC103243670 galectin-3-binding protein ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:70,941,895...70,950,544
Ensembl chr16:70,941,562...70,947,736 		JBrowse link
G LUC7L LUC7 like ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:132,018...176,060
Ensembl chr 5:128,232...176,020 		JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,616,672...1,679,350
Ensembl chr 5:1,616,668...1,677,721 		JBrowse link
G MCRIP2 MAPK regulated corepressor interacting protein 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:557,388...568,952
Ensembl chr 5:557,607...569,675 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,971,323...2,991,501 JBrowse link
G MEIOB meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,738,250...1,779,412
Ensembl chr 5:1,738,275...1,773,727 		JBrowse link
G METRN meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:633,951...637,227 JBrowse link
G METTL26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:554,049...556,223 JBrowse link
G MGRN1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:4,310,924...4,372,896
Ensembl chr 5:4,310,970...4,375,423 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:129,878,014...129,893,239
Ensembl chr20:129,877,142...129,884,894 		JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,101,044...2,105,272
Ensembl chr 5:2,101,891...2,105,739 		JBrowse link
G MMP23B matrix metallopeptidase 23B ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:129,873,838...129,876,521
Ensembl chr20:129,873,867...129,876,524 		JBrowse link
G MMP25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,792,249...2,806,357
Ensembl chr 5:2,792,389...2,804,728 		JBrowse link
G MORN1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:129,163,876...129,231,520
Ensembl chr20:129,169,893...129,231,604 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:130,042,502...130,047,019 JBrowse link
G MRPL28 mitochondrial ribosomal protein L28 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:308,141...311,442
Ensembl chr 5:308,442...310,934 		JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,680,898...1,682,159
Ensembl chr 5:1,681,228...1,682,151 		JBrowse link
G MSLN mesothelin ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:681,923...690,530
Ensembl chr 5:683,480...690,757 		JBrowse link
G MSRB1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,836,059...1,841,132 JBrowse link
G MTRNR2L4 MT-RNR2 like 4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,083,439...3,086,054
Ensembl chr 5:3,085,475...3,085,558 		JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:130,092,280...130,102,819
Ensembl chr20:130,096,289...130,104,551 		JBrowse link
G NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,144,307...3,184,108
Ensembl chr 5:3,173,475...3,181,996 		JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:129,770,575...129,800,914
Ensembl chr20:129,769,822...129,803,817 		JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,856,476...1,859,336
Ensembl chr 5:1,856,157...1,862,529 		JBrowse link
G NEB nebulin ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr10:36,917,675...37,142,582 JBrowse link
G NHERF2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,923,773...1,935,641
Ensembl chr 5:1,924,131...1,939,062 		JBrowse link
G NHLRC4 NHL repeat containing 4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:489,600...492,069
Ensembl chr 5:491,126...491,497 		JBrowse link
G NLRC3 NLR family CARD domain containing 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,241,552...3,262,763
Ensembl chr 5:3,242,242...3,262,261 		JBrowse link
G NME3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,679,361...1,680,796
Ensembl chr 5:1,679,549...1,680,547 		JBrowse link
G NME4 NME/NM23 nucleoside diphosphate kinase 4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:337,533...341,052
Ensembl chr 5:337,562...341,205 		JBrowse link
G NMRAL1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:4,142,965...4,164,217
Ensembl chr 5:4,143,051...4,163,391 		JBrowse link
G NOXO1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,874,801...1,878,557
Ensembl chr 5:1,874,937...1,877,044 		JBrowse link
G NPW neuropeptide W ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,916,677...1,918,468 JBrowse link
G NTHL1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,936,415...1,946,468
Ensembl chr 5:1,936,524...1,946,434 		JBrowse link
G NTN3 netrin 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,349,614...2,353,197
Ensembl chr 5:2,350,797...2,353,184 		JBrowse link
G NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,687,972...1,697,559
Ensembl chr 5:1,691,565...1,697,562 		JBrowse link
G NUDT16L1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:4,372,989...4,377,679
Ensembl chr 5:4,375,517...4,377,032 		JBrowse link
G PAM16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:4,020,116...4,031,233 JBrowse link
G PAQR4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,708,807...2,713,104
Ensembl chr 5:2,709,245...2,713,256 		JBrowse link
G PDIA2 protein disulfide isomerase family A member 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:229,523...233,298
Ensembl chr 5:229,607...233,200 		JBrowse link
G PDPK1 3-phosphoinositide dependent protein kinase 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:129,145,587...129,155,687
Ensembl chr20:129,145,638...129,153,968 		JBrowse link
G PGAP6 post-GPI attachment to proteins 6 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:311,625...322,355
Ensembl chr 5:311,334...322,243 		JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,107,850...2,110,657
Ensembl chr 5:2,106,451...2,110,657 		JBrowse link
G PGS1 phosphatidylglycerophosphate synthase 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:70,375,341...70,423,198
Ensembl chr16:70,375,366...70,422,919 		JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:492,997...505,084
Ensembl chr 5:496,568...505,997 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,985,165...2,031,518
Ensembl chr 5:1,983,632...2,015,551 		JBrowse link
G PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,712,423...2,722,122
Ensembl chr 5:2,712,448...2,716,661 		JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:129,367,309...129,502,681
Ensembl chr20:129,365,679...129,485,818 		JBrowse link
G PRR25 proline rich 25 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:724,466...734,199 JBrowse link
G PRR35 proline rich 35 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:482,867...489,486
Ensembl chr 5:486,015...488,112 		JBrowse link
G PRSS27 serine protease 27 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,471,950...2,480,118 JBrowse link
G PRSS41 serine protease 41 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,545,222...2,555,071 JBrowse link
G PTX4 pentraxin 4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,394,909...1,404,015
Ensembl chr 5:1,395,234...1,398,238 		JBrowse link
G RAB11FIP3 RAB11 family interacting protein 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:358,951...445,150 JBrowse link
G RAB26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,041,871...2,049,623
Ensembl chr 5:2,043,829...2,049,836 		JBrowse link
G RAB40C RAB40C, member RAS oncogene family ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:511,517...545,868
Ensembl chr 5:511,660...544,225 		JBrowse link
G RBFOX1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: EIG | ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23286373 PMID:24039908 More... NCBI chr 5:4,896,225...7,365,137 JBrowse link
G RBFOX3 RNA binding fox-1 homolog 3 ISO ClinVar Annotator: match by term: EIG | ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr16:71,058,257...71,673,053
Ensembl chr16:71,058,131...71,276,475 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:129,155,902...129,169,648
Ensembl chr20:129,156,067...129,169,597 		JBrowse link
G RGS11 regulator of G protein signaling 11 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:214,626...222,961
Ensembl chr 5:214,964...223,167 		JBrowse link
G RHBDL1 rhomboid like 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:595,236...598,233
Ensembl chr 5:596,074...598,018 		JBrowse link
G RHOT2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:587,888...593,740
Ensembl chr 5:586,539...595,129 		JBrowse link
G RNF151 ring finger protein 151 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,864,055...1,866,383
Ensembl chr 5:1,864,680...1,866,323 		JBrowse link
G RNF213 ring finger protein 213 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:72,241,519...72,370,710
Ensembl chr16:72,244,245...72,369,859 		JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,148,929...2,163,810 JBrowse link
G ROGDI rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:4,466,954...4,472,967
Ensembl chr 5:4,466,824...4,472,780 		JBrowse link
G RPL3L ribosomal protein L3 like ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,841,959...1,853,944
Ensembl chr 5:1,842,604...1,853,444 		JBrowse link
G RPS2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,859,411...1,862,322
Ensembl chr 5:1,859,454...1,862,305 		JBrowse link
G RPUSD1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:704,649...708,025
Ensembl chr 5:704,519...708,058 		JBrowse link
G SEPTIN12 septin 12 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:4,448,098...4,465,389 JBrowse link
G SGSH N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:72,192,559...72,203,230
Ensembl chr16:72,190,310...72,203,130 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:129,243,033...129,324,162
Ensembl chr20:129,242,445...129,324,138 		JBrowse link
G SLC12A5 solute carrier family 12 member 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:17,823,141...17,854,996
Ensembl chr 2:17,825,676...17,854,950 		JBrowse link
G SLC26A11 solute carrier family 26 member 11 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:72,203,264...72,233,360 JBrowse link
G SLC35E2B solute carrier family 35 member E2B ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:129,808,281...129,843,006
Ensembl chr20:129,824,956...129,846,114 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,281,468...3,308,296 JBrowse link
G SMIM22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:4,465,215...4,466,550
Ensembl chr 5:4,465,603...4,466,738 		JBrowse link
G SOCS3 suppressor of cytokine signaling 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:70,353,099...70,356,401
Ensembl chr16:70,354,746...70,355,423 		JBrowse link
G SOX8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:877,988...883,278
Ensembl chr 5:878,217...881,662 		JBrowse link
G SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,685,741...1,691,542
Ensembl chr 5:1,686,095...1,691,489 		JBrowse link
G SRL sarcalumenin ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,861,921...3,928,865 JBrowse link
G SRRM2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,570,566...2,589,355
Ensembl chr 5:2,571,109...2,585,640 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:129,922,992...129,958,551
Ensembl chr20:129,923,091...129,958,712 		JBrowse link
G STUB1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:599,907...602,549
Ensembl chr 5:599,819...605,567 		JBrowse link
G SYNGR2 synaptogyrin 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:70,180,139...70,184,694
Ensembl chr16:70,180,093...70,183,917 		JBrowse link
G SYNGR3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,886,899...1,891,293
Ensembl chr 5:1,886,864...1,891,368 		JBrowse link
G TBC1D16 TBC1 domain family member 16 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:71,906,309...72,003,457
Ensembl chr16:71,906,890...71,981,424 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,353,543...2,378,950 JBrowse link
G TBL3 transducin beta like 3 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,867,943...1,874,640
Ensembl chr 5:1,867,917...1,875,236 		JBrowse link
G TEDC2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,338,246...2,343,171
Ensembl chr 5:2,338,341...2,342,825 		JBrowse link
G TELO2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,403,373...1,419,459
Ensembl chr 5:1,403,385...1,421,128 		JBrowse link
G TFAP4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,931,288...3,960,039
Ensembl chr 5:3,932,149...3,954,486 		JBrowse link
G THOC6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,767,338...2,771,040
Ensembl chr 5:2,767,634...2,771,812 		JBrowse link
G TIGD7 tigger transposable element derived 7 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,022,294...3,029,167 JBrowse link
G TIMP2 TIMP metallopeptidase inhibitor 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:70,819,591...70,850,471
Ensembl chr16:70,819,139...70,850,471 		JBrowse link
G TK1 thymidine kinase 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:70,186,103...70,200,689
Ensembl chr16:70,186,767...70,200,610 		JBrowse link
G TMC6 transmembrane channel like 6 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:43,585,975...43,605,452
Ensembl chr16:43,589,522...43,605,220 		JBrowse link
G TMC8 transmembrane channel like 8 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:43,575,479...43,588,888
Ensembl chr16:43,573,867...43,587,019 		JBrowse link
G TMEM204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,443,132...1,469,973
Ensembl chr 5:1,446,321...1,472,785 		JBrowse link
G TMEM235 transmembrane protein 235 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:70,244,579...70,251,937
Ensembl chr16:70,244,594...70,251,690 		JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:129,959,081...129,965,352
Ensembl chr20:129,959,462...129,965,375 		JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532
G TMEM88B transmembrane protein 88B ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:130,028,526...130,031,739
Ensembl chr20:130,026,134...130,030,985 		JBrowse link
G TNFRSF12A TNF receptor superfamily member 12A ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,763,633...2,765,692
Ensembl chr 5:2,763,714...2,765,137 		JBrowse link
G TPSG1 tryptase gamma 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,105,802...1,109,613 JBrowse link
G TRAF7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,051,247...2,072,763
Ensembl chr 5:2,059,349...2,071,297 		JBrowse link
G TRAP1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,339,954...3,405,218
Ensembl chr 5:3,340,040...3,405,166 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682 		JBrowse link
G TSR3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,237,625...1,240,287
Ensembl chr 5:1,237,821...1,240,191 		JBrowse link
G UBALD1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:4,295,504...4,301,647
Ensembl chr 5:4,292,771...4,301,515 		JBrowse link
G UBE2I ubiquitin conjugating enzyme E2 I ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,203,513...1,216,662
Ensembl chr 5:1,200,018...1,216,741 		JBrowse link
G UNKL unk like zinc finger ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,279,429...1,303,996
Ensembl chr 5:1,253,941...1,303,950 		JBrowse link
G USP36 ubiquitin specific peptidase 36 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr16:70,769,133...70,813,274
Ensembl chr16:70,769,797...70,810,844 		JBrowse link
G VASN vasorin ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:4,052,239...4,063,884 JBrowse link
G VWA1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr20:130,016,802...130,023,138
Ensembl chr20:130,014,754...130,021,822 		JBrowse link
G WDR24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:604,412...610,665
Ensembl chr 5:604,545...610,359 		JBrowse link
G WDR90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:569,743...587,632
Ensembl chr 5:569,575...587,632 		JBrowse link
G WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:547,499...554,080
Ensembl chr 5:547,795...554,019 		JBrowse link
G ZNF174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,106,901...3,114,690
Ensembl chr 5:3,106,981...3,116,524 		JBrowse link
G ZNF200 zinc finger protein 200 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,950,385...2,963,806
Ensembl chr 5:2,950,114...2,963,494 		JBrowse link
G ZNF205 zinc finger protein 205 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,827,888...2,844,569
Ensembl chr 5:2,837,617...2,844,383 		JBrowse link
G ZNF213 zinc finger protein 213 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,865,131...2,878,473
Ensembl chr 5:2,873,071...2,877,144 		JBrowse link
G ZNF263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,005,686...3,015,341
Ensembl chr 5:3,007,305...3,014,449 		JBrowse link
G ZNF500 zinc finger protein 500 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:4,432,050...4,443,777
Ensembl chr 5:4,432,575...4,443,396 		JBrowse link
G ZNF597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,137,252...3,144,217
Ensembl chr 5:3,133,193...3,144,023 		JBrowse link
G ZNF598 zinc finger protein 598, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:1,894,662...1,906,613
Ensembl chr 5:1,895,250...1,906,539 		JBrowse link
G ZNF75A zinc finger protein 75a ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,029,147...3,042,225 JBrowse link
G ZSCAN10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:2,813,067...2,836,732
Ensembl chr 5:2,813,268...2,817,107 		JBrowse link
G ZSCAN32 zinc finger and SCAN domain containing 32 ISO ClinVar Annotator: match by term: Idiopathic generalized epilepsy ClinVar PMID:28492532 NCBI chr 5:3,089,284...3,106,773
Ensembl chr 5:3,086,772...3,106,771 		JBrowse link
idiopathic generalized epilepsy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRD gamma-aminobutyric acid type A receptor subunit delta susceptibility ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 10 | ClinVar Annotator: match by term: GABRD-related condition OMIM
ClinVar		 PMID:15115768 PMID:16023832 PMID:16256272 PMID:16452673 PMID:17559416 More... NCBI chr20:129,530,049...129,541,437
Ensembl chr20:129,529,108...129,541,580 		JBrowse link
idiopathic generalized epilepsy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN2 chloride voltage-gated channel 2 susceptibility ISO ClinVar Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 11 ClinVar
OMIM		 PMID:1521363 PMID:12612585 PMID:15252188 PMID:15505175 PMID:16199547 More... NCBI chr15:5,057,687...5,073,596
Ensembl chr15:5,057,900...5,073,184 		JBrowse link
idiopathic generalized epilepsy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC2A1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 12 ClinVar
OMIM		 PMID:9536098 PMID:10980529 PMID:11477212 PMID:15622525 PMID:16217704 More... NCBI chr20:89,974,567...90,007,977
Ensembl chr20:90,002,030...90,008,033 		JBrowse link
idiopathic generalized epilepsy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 susceptibility 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 chr23:64,199,372...64,255,996
Ensembl chr23:64,200,752...64,255,996 		JBrowse link
idiopathic generalized epilepsy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC12A5 solute carrier family 12 member 5 susceptibility ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 14 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:24668262 PMID:24928908 PMID:25741868 More... NCBI chr 2:17,823,141...17,854,996
Ensembl chr 2:17,825,676...17,854,950 		JBrowse link
idiopathic generalized epilepsy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RORB RAR related orphan receptor B susceptibility ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 15 | ClinVar Annotator: match by term: RORB-related condition OMIM
ClinVar		 PMID:16199547 PMID:25356972 PMID:25741868 PMID:27352968 PMID:28492532 NCBI chr12:85,545,609...85,735,804
Ensembl chr12:85,545,608...85,732,780 		JBrowse link
Idiopathic Generalized Epilepsy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 16 ClinVar
OMIM		 PMID:25741868 PMID:28492532 NCBI chr 9:53,727,790...54,557,252
Ensembl chr 9:54,182,910...54,554,716 		JBrowse link
Idiopathic Generalized Epilepsy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 18 ClinVar
OMIM		 PMID:23623143 PMID:24033266 PMID:24607718 PMID:25642760 PMID:25741868 More... NCBI chr26:10,107,342...10,158,885
Ensembl chr26:10,110,579...10,156,292 		JBrowse link
idiopathic generalized epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25326635 PMID:25741868 NCBI chr26:50,554,143...50,686,847
Ensembl chr26:50,551,829...50,686,803 		JBrowse link
G EFHC1 EF-hand domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:20,011,684...20,083,639
Ensembl chr17:20,011,530...20,083,592 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25741868 NCBI chr10:50,563,560...50,679,179
Ensembl chr10:50,563,568...50,637,179 		JBrowse link
idiopathic generalized epilepsy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor susceptibility ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 8 ClinVar
OMIM		 PMID:791660 PMID:1302026 PMID:7054696 PMID:7726161 PMID:7791841 More... NCBI chr22:58,579,640...58,612,142
Ensembl chr22:58,578,396...58,604,756 		JBrowse link
idiopathic generalized epilepsy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 susceptibility ISO ClinVar Annotator: match by term: CACNB4-related condition | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 9 | ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 6 ClinVar
OMIM		 PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:37,240,749...37,518,174
Ensembl chr10:37,246,991...37,388,059 		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 chr22:45,799,225...45,814,343
Ensembl chr22:45,799,645...45,814,870 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 6:36,166,586...36,195,343
Ensembl chr 6:36,166,262...36,195,363 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220 		JBrowse link
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:46,157,063...46,169,833
Ensembl chr22:46,156,652...46,170,546 		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 chr22:45,740,192...45,756,327
Ensembl chr22:45,740,351...45,756,390 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 More... NCBI chr 6:11,883,353...12,307,023 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 chr22:45,763,799...45,776,792
Ensembl chr22:45,762,499...45,774,597 		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:46,161,238...46,178,128
Ensembl chr  X:46,170,651...46,177,244 		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 chr29:11,436,170...11,579,468
Ensembl chr29:11,450,799...11,579,594 		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 chr22:45,895,455...45,917,236
Ensembl chr22:45,895,249...45,910,658 		JBrowse link
G CPNE9 copine family member 9 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,714,168...45,738,368 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 chr22:45,960,253...45,969,973
Ensembl chr22:45,961,010...45,969,712 		JBrowse link
G DNM1 dynamin 1 ISO RGD PMID:27363778 RGD:11557016 NCBI chr12:9,874,098...9,927,737
Ensembl chr12:9,878,966...9,927,744 		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 chr22:45,990,708...46,015,697
Ensembl chr22:45,987,731...46,015,712 		JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:46,072,797...46,141,107
Ensembl chr22:46,072,761...46,140,713 		JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:46,144,575...46,150,638
Ensembl chr22:46,144,859...46,145,392 		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 chr15:86,252,816...86,836,363 JBrowse link
G FMR1 Fragile X messenger ribonucleoprotein 1 ISO protein:decreased expression:hippocampus, cytosol (rat) RGD PMID:23831253 RGD:11667971 NCBI chr  X:122,635,383...122,674,298
Ensembl chr  X:122,635,439...122,674,355 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:46,326,458...46,332,906
Ensembl chr22:46,325,913...46,330,962 		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 chr22:45,944,385...45,960,188
Ensembl chr22:45,944,669...45,960,164 		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 chr22:45,929,339...45,943,749 JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr  X:49,363,569...49,452,872
Ensembl chr  X:49,364,909...49,387,050 		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 chr22:46,204,600...46,279,863
Ensembl chr22:46,204,893...46,278,260 		JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,917,319...45,921,082
Ensembl chr22:45,917,444...45,920,250 		JBrowse link
G LIMK1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar NCBI chr28:8,953,095...8,988,848
Ensembl chr28:8,952,957...8,988,672 		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 chr22:45,650,544...45,704,237
Ensembl chr22:45,650,556...45,713,176 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,757,414...45,763,690 JBrowse link
G PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:89,750,792...89,875,309 JBrowse link
G PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:46,179,842...46,182,769
Ensembl chr  X:46,179,835...46,183,552 		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 chr22:45,970,474...45,978,764
Ensembl chr22:45,971,148...45,975,076 		JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:32004447 NCBI chr24:12,344,951...12,615,669
Ensembl chr24:12,344,934...12,615,622 		JBrowse link
G RBFOX1 RNA binding fox-1 homolog 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 5:4,896,225...7,365,137 JBrowse link
G RPUSD3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,848,749...45,857,122
Ensembl chr22:45,848,788...45,857,117 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm ClinVar PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More... NCBI chr10:51,490,204...51,653,916 JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 PMID:37845033 NCBI chr 6:29,962,993...29,972,845
Ensembl chr 6:29,962,843...29,973,325 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood ClinVar PMID:25741868 NCBI chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:47,770,513...47,983,843
Ensembl chr11:47,838,358...47,978,399 		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 chr22:46,336,909...46,357,435
Ensembl chr22:46,336,829...46,355,723 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 ISO ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy ClinVar PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More... NCBI chr16:6,060,445...6,089,867 JBrowse link
G SLC6A1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm | 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
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 chr22:47,033,436...47,076,785
Ensembl chr22:47,033,467...47,078,844 		JBrowse link
G SLC6A11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:46,857,117...46,978,652
Ensembl chr22:46,857,569...46,978,088 		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 chr25:22,897,699...23,147,097
Ensembl chr25:22,897,469...23,145,218 		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 chr12:10,440,061...10,519,798
Ensembl chr12:10,439,801...10,519,777 		JBrowse link
G TADA3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,787,945...45,799,529
Ensembl chr22:45,786,012...45,798,019 		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 chr22:46,284,624...46,321,473
Ensembl chr22:46,284,685...46,321,710 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human) RGD PMID:23526554 RGD:11537471 NCBI chr 5:2,353,543...2,378,950 JBrowse link
G TTLL3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Myoclonic-atonic epilepsy ClinVar PMID:25865495 PMID:28492532 PMID:31401500 NCBI chr22:45,817,048...45,843,878 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 chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428 		JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Early onset epileptic encephalopathy ClinVar PMID:26173968 NCBI chr  X:46,183,278...46,188,564
Ensembl chr  X:46,183,443...46,188,536 		JBrowse link
Norrie disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FZD4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Fetal iritis syndrome ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 1:78,164,243...78,199,296
Ensembl chr 1:78,188,630...78,198,187 		JBrowse link
G NDP norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria OMIM
ClinVar		 PMID:1303235 PMID:1303264 PMID:1307245 PMID:7558002 PMID:7627181 More... NCBI chr  X:41,122,064...41,148,097
Ensembl chr  X:41,121,874...41,147,567 		JBrowse link
G PRSS23 serine protease 23 ISO ClinVar Annotator: match by term: Fetal iritis syndrome ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 1:78,058,332...78,067,030
Ensembl chr 1:78,065,492...78,066,643 		JBrowse link
G TSPAN12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 PMID:25741868 NCBI chr21:89,609,229...89,680,446
Ensembl chr21:89,609,124...89,680,297 		JBrowse link
paroxysmal nonkinesigenic dyskinesia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLG5 discs large MAGUK scaffold protein 5 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar PMID:28492532 NCBI chr 9:53,513,871...53,648,510
Ensembl chr 9:53,513,979...53,648,839 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 ISO ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar PMID:25741868 PMID:34305802 NCBI chr11:4,956,824...4,963,732
Ensembl chr11:4,956,856...4,958,343 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 ISO ClinVar Annotator: match by term: Generalized epilepsy and paroxysmal dyskinesia | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy ClinVar
OMIM		 PMID:9536098 PMID:15937479 PMID:16199547 PMID:16946189 PMID:17576681 More... NCBI chr 9:53,727,790...54,557,252
Ensembl chr 9:54,182,910...54,554,716 		JBrowse link
PEHO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC88A coiled-coil domain containing 88A ISO ClinVar Annotator: match by term: PEHO syndrome | ClinVar Annotator: match by term: PEHO-like syndrome ClinVar PMID:25741868 PMID:26917597 PMID:28492532 PMID:30392057 PMID:37798908 More... NCBI chr14:51,484,886...51,615,066
Ensembl chr14:51,484,906...51,610,654 		JBrowse link
G IGF1 insulin like growth factor 1 ISO protein:decreased expression:cerebrospinal fluid: RGD PMID:11701291 RGD:8548849 NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308 		JBrowse link
G KIF1A kinesin family member 1A ISO ClinVar Annotator: match by term: PEHO syndrome ClinVar PMID:21376300 PMID:25253658 PMID:25265257 PMID:25533962 PMID:25741868 More... NCBI chr10:126,784,843...126,890,649
Ensembl chr10:126,781,589...126,867,219 		JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 ISO ClinVar Annotator: match by term: Infantile cerebellooptic atrophy | ClinVar Annotator: match by term: PEHO syndrome OMIM
ClinVar		 PMID:25741868 PMID:28335020 PMID:28492532 PMID:31048081 NCBI chr16:31,313,087...31,322,303 JBrowse link
West syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase treatment ISO RGD PMID:24321005 RGD:9588540 NCBI chr 5:8,274,310...8,380,973
Ensembl chr 5:8,315,952...8,379,549 		JBrowse link
G ARX aristaless related homeobox ISO RGD PMID:19439424 RGD:11565833 NCBI chr  X:23,499,791...23,518,333
Ensembl chr  X:23,500,454...23,511,524 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome ClinVar PMID:16330482 PMID:16813600 PMID:18414213 PMID:18790821 PMID:19362436 More... NCBI chr  X:16,955,540...17,101,513 JBrowse link
G CFL1 cofilin 1 ISO protein:decreased expression:brain (rat) RGD PMID:24994451 RGD:11570411 NCBI chr 1:8,408,560...8,410,564 JBrowse link
G CRH corticotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11341487 NCBI chr 8:62,052,155...62,056,424
Ensembl chr 8:62,052,592...62,053,182 		JBrowse link
G DNM1 dynamin 1 ISO ClinVar Annotator: match by term: West syndrome ClinVar PMID:25741868 NCBI chr12:9,874,098...9,927,737
Ensembl chr12:9,878,966...9,927,744 		JBrowse link
G GAD1 glutamate decarboxylase 1 ISO ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:22662185 PMID:28492532 NCBI chr10:56,351,495...56,396,476
Ensembl chr10:56,353,253...56,396,524 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16919904 NCBI chr23:22,674,059...22,761,270
Ensembl chr23:22,674,072...22,762,056 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: West syndrome ClinVar PMID:2753503 PMID:22275249 PMID:23692823 PMID:24318194 PMID:24759409 More... NCBI chr 2:739,965...803,575
Ensembl chr 2:761,952...802,999 		JBrowse link
G LOC103238261 tubulin alpha-1A chain ISO ClinVar Annotator: match by term: West syndrome ClinVar PMID:25741868 PMID:26130693 NCBI chr11:45,419,046...45,423,574
Ensembl chr11:45,418,748...45,423,685 		JBrowse link
G MAST4 microtubule associated serine/threonine kinase family member 4 ISO ClinVar Annotator: match by term: Infantile spasms ClinVar NCBI chr 4:62,774,274...63,349,714
Ensembl chr 4:63,181,153...63,349,709 		JBrowse link
G MC2R melanocortin 2 receptor ISO DNA:snps:promoter:multiple (human) RGD PMID:19024088 RGD:6484693 NCBI chr18:72,286,380...72,296,607
Ensembl chr18:72,288,224...72,289,105 		JBrowse link
G PIK3AP1 phosphoinositide-3-kinase adaptor protein 1 ISO ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:9536098 PMID:17576681 PMID:25262651 PMID:25741868 PMID:28492532 NCBI chr 9:89,750,792...89,875,309 JBrowse link
G PLCB1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive ClinVar PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:29,242,601...29,994,238
Ensembl chr 2:29,242,425...29,496,793 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1324751 PMID:1327015 PMID:1656808 PMID:1965992 PMID:2551692 More... NCBI chr14:82,491,296...82,499,289
Ensembl chr14:82,494,323...82,499,447 		JBrowse link
G RALGAPA1 Ral GTPase activating protein catalytic subunit alpha 1 ISO ClinVar Annotator: match by term: Infantile spasms ClinVar PMID:32004447 NCBI chr24:12,344,951...12,615,669
Ensembl chr24:12,344,934...12,615,622 		JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: West syndrome ClinVar PMID:16813600 PMID:18414213 PMID:21775177 PMID:22867051 PMID:25741868 More... NCBI chr  X:17,089,382...17,105,145
Ensembl chr  X:17,089,598...17,118,447 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: West syndrome ClinVar PMID:14504318 PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 More... NCBI chr10:51,490,204...51,653,916 JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome ClinVar PMID:18414213 PMID:19786696 PMID:20956790 PMID:23550958 PMID:23708187 More... NCBI chr10:50,717,264...50,886,079
Ensembl chr10:50,717,271...50,888,145 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: West syndrome ClinVar PMID:12374766 PMID:17881658 PMID:22365152 PMID:25326635 PMID:25326637 More... NCBI chr11:47,770,513...47,983,843
Ensembl chr11:47,838,358...47,978,399 		JBrowse link
G SLC25A22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive ClinVar PMID:28492532 NCBI chr 1:593,914...601,603
Ensembl chr 1:593,890...598,585 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr12:9,503,752...9,585,297
Ensembl chr12:9,503,367...9,585,268 		JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: West syndrome ClinVar PMID:18414213 PMID:20887364 PMID:21193638 PMID:22612257 PMID:23934111 More... NCBI chr12:10,440,061...10,519,798
Ensembl chr12:10,439,801...10,519,777 		JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 ISO ClinVar Annotator: match by term: Hypsarrhythmia ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:42,379,534...42,424,721
Ensembl chr 6:42,379,659...42,424,146 		JBrowse link
G TSC1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18345974 NCBI chr12:5,195,604...5,249,042
Ensembl chr12:5,195,675...5,244,157 		JBrowse link
G TSC2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18345974 NCBI chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase ISO ClinVar Annotator: match by term: West syndrome ClinVar PMID:25741868 PMID:32001716 NCBI chr27:10,781,324...10,810,595
Ensembl chr27:10,781,502...10,810,817 		JBrowse link
G UPB1 beta-ureidopropionase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18853477 NCBI chr19:7,605,999...7,639,339
Ensembl chr19:7,605,537...7,639,017 		JBrowse link
G WWOX WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive | ClinVar Annotator: match by term: West syndrome		 ClinVar PMID:16199547 PMID:24456803 PMID:25411445 PMID:25741868 PMID:28492532 More... NCBI chr 5:63,580,049...64,698,212
Ensembl chr 5:63,580,741...63,916,157 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15416
    disease of anatomical entity 15079
      nervous system disease 13229
        central nervous system disease 11816
          brain disease 11084
            epilepsy 2872
              Generalized Epilepsy 460
                Nodding Syndrome 0
                Photoparoxysmal Response 2 0
                West syndrome + 37
                childhood absence epilepsy + 26
                epilepsy with generalized tonic-clonic seizures + 24
                idiopathic generalized epilepsy + 315
                paroxysmal nonkinesigenic dyskinesia 3 3
paths to the root