ONTOLOGY REPORT - ANNOTATIONS


Term:epilepsy
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Accession:DOID:1826 term browser browse the term
Definition:A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)
Synonyms:exact_synonym: Cryptogenic Epilepsy;   Epilepsies;   Epileptic Seizure;   Epileptic Seizures;   aura;   auras;   awakening epilepsy;   cryptogenic epilepsies;   epilepsy syndrome;   epileptic syndrome;   seizure disorder;   seizure disorders;   single seizure;   single seizures
 narrow_synonym: EPILEPSY, MITOCHONDRIAL;   Epilepsy, benign familial juvenile;   INTRACTABLE SEIZURE
 primary_id: MESH:D004827
 alt_id: OMIA:001596;   RDO:0000292
 xref: OMIM:PS121210;   OMIM:PS601068;   OMIM:PS613339
For additional species annotation, visit the Alliance of Genome Resources.


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epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb1a ATP binding cassette subfamily B member 1A JBrowse link 4 22,339,829 22,517,642 RGD:1358366
RGD:13524859
RGD:11554173
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B JBrowse link 4 22,225,123 22,307,577 RGD:1358367
G Ache acetylcholinesterase JBrowse link 12 22,472,358 22,477,052 RGD:5688133
G Adra2a adrenoceptor alpha 2A JBrowse link 1 274,766,283 274,769,083 RGD:11554173
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:11554173
G Alb albumin JBrowse link 14 19,176,275 19,191,793 RGD:11554173
G Aldh5a1 aldehyde dehydrogenase 5 family, member A1 JBrowse link 17 42,133,076 42,159,413 RGD:13592920
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 JBrowse link 18 51,619,007 51,651,267 RGD:8554872
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 115,561,329 115,589,792 RGD:11554173
G Ankrd11 ankyrin repeat domain 11 JBrowse link 19 55,703,831 55,862,446 RGD:11554173
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:11554173
G Asxl3 ASXL transcriptional regulator 3 JBrowse link 18 13,322,148 13,496,230 RGD:11554173
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 13 90,651,682 90,676,629 RGD:8554872
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:11576281
RGD:8554872
G Atp8a2 ATPase phospholipid transporting 8A2 JBrowse link 15 39,955,689 40,488,737 RGD:8554872
G Auts2 activator of transcription and developmental regulator AUTS2 JBrowse link 12 27,155,362 28,252,752 RGD:11554173
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:5688133
G Bcl2l2 Bcl2-like 2 JBrowse link 15 33,543,774 33,549,165 RGD:14394514
G Bdkrb1 bradykinin receptor B1 JBrowse link 6 129,437,423 129,441,553 RGD:704381
G Bdkrb2 bradykinin receptor B2 JBrowse link 6 129,399,468 129,429,676 RGD:704381
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:11554173
G Becn1 beclin 1 JBrowse link 10 89,209,944 89,225,297 RGD:6483076
G Bicd2 BICD cargo adaptor 2 JBrowse link 17 15,673,649 15,718,035 RGD:8554872
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:1643597
G Bsn bassoon (presynaptic cytomatrix protein) JBrowse link 8 116,873,721 116,965,396 RGD:13592920
G C1qa complement C1q A chain JBrowse link 5 155,261,254 155,264,101 RGD:13592920
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:8554872
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 8 116,154,661 116,285,643 RGD:13592920
G Capn1 calpain 1 JBrowse link 1 221,346,081 221,370,965 RGD:13792591
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:11554173
G Cdyl chromodomain Y-like JBrowse link 17 29,672,925 29,895,416 RGD:13592920
G Cep128 centrosomal protein 128 JBrowse link 6 114,759,474 115,158,004 RGD:8554872
G Chd2 chromodomain helicase DNA binding protein 2 JBrowse link 1 134,757,934 134,873,053 RGD:11554173
G Chrm1 cholinergic receptor, muscarinic 1 JBrowse link 1 224,869,087 224,885,101 RGD:11554173
G Chrm2 cholinergic receptor, muscarinic 2 JBrowse link 4 64,089,028 64,091,090 RGD:11554173
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:8554872
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:11554173
RGD:8554872
G Col4a3bp collagen type IV alpha 3 binding protein JBrowse link 2 27,365,145 27,469,797 RGD:11554173
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:1358523
G Cpa6 carboxypeptidase A6 JBrowse link 5 8,215,443 8,574,655 RGD:8554872
G Cul4b cullin 4B JBrowse link X 124,831,391 124,870,329 RGD:8554872
G Ddx3x DEAD-box helicase 3, X-linked JBrowse link X 10,400,363 10,414,010 RGD:11554173
G Dlg3 discs large MAGUK scaffold protein 3 JBrowse link X 70,596,246 70,648,529 RGD:8554872
G Dnm1 dynamin 1 JBrowse link 3 11,338,081 11,382,043 RGD:11554173
G Dpyd dihydropyrimidine dehydrogenase JBrowse link 2 221,823,692 222,694,627 RGD:8554872
G Dyrk1a dual specificity tyrosine phosphorylation regulated kinase 1A JBrowse link 11 34,858,339 34,958,733 RGD:11554173
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 1 191,997,512 192,025,350 RGD:8554872
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 3 176,657,104 176,666,282 RGD:11554173
G Egr1 early growth response 1 JBrowse link 18 27,657,903 27,660,101 RGD:5131860
G Ern1 endoplasmic reticulum to nucleus signaling 1 JBrowse link 10 94,588,555 94,682,072 RGD:11554173
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Flna filamin A JBrowse link X 156,460,785 156,487,245 RGD:11554173
RGD:11565133
G Folr1 folate receptor 1 JBrowse link 1 166,934,457 166,945,864 RGD:11554173
G Fos Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 6 109,300,433 109,303,299 RGD:11554173
G Fosb FosB proto-oncogene, AP-1 transcription factor subunit JBrowse link 1 80,214,691 80,221,417 RGD:11554173
G Foxg1 forkhead box G1 JBrowse link 6 69,971,227 69,974,037 RGD:11554173
G Gabra1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 10 27,310,718 27,371,802 RGD:8554872
G Gabrb2 gamma-aminobutyric acid type A receptor beta 2 subunit JBrowse link 10 27,973,694 28,193,072 RGD:11554173
G Gabrb3 gamma-aminobutyric acid type A receptor beta 3 subunit JBrowse link 1 113,034,251 113,265,364 RGD:11554173
RGD:8554872
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:8554872
G Gad2 glutamate decarboxylase 2 JBrowse link 17 89,171,576 89,234,770 RGD:13592920
G Gapdh glyceraldehyde-3-phosphate dehydrogenase JBrowse link 4 157,676,336 157,680,322 RGD:13792618
G Gdnf glial cell derived neurotrophic factor JBrowse link 2 56,884,181 56,912,964 RGD:6218965
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:11554173
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:8554872
G Gnao1 G protein subunit alpha o1 JBrowse link 19 11,513,201 11,669,578 RGD:11554173
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11554173
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 JBrowse link 10 42,441,723 42,760,200 RGD:2326034
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:11554173
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:2326034
RGD:11554173
RGD:8554872
G Grm1 glutamate metabotropic receptor 1 JBrowse link 1 4,753,141 5,165,859 RGD:11554173
G Grm8 glutamate metabotropic receptor 8 JBrowse link 4 54,474,344 55,409,526 RGD:6484665
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 JBrowse link 2 50,099,576 50,499,799 RGD:11554173
G Hes1 hes family bHLH transcription factor 1 JBrowse link 11 74,312,837 74,315,249 RGD:9685365
G Hnrnpu heterogeneous nuclear ribonucleoprotein U JBrowse link 13 96,222,093 96,238,845 RGD:11554173
G Htr7 5-hydroxytryptamine receptor 7 JBrowse link 1 254,547,964 254,671,811 RGD:6482190
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:13524859
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:13524859
G Ilk integrin-linked kinase JBrowse link 1 170,578,941 170,585,192 RGD:11554173
G Iqsec2 IQ motif and Sec7 domain 2 JBrowse link X 22,212,137 22,293,810 RGD:11554173
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:6482816
G Kcna1 potassium voltage-gated channel subfamily A member 1 JBrowse link 4 159,190,781 159,192,526 RGD:13592920
G Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 JBrowse link 5 169,570,327 169,658,875 RGD:11554173
G Kcnc2 potassium voltage-gated channel subfamily C member 2 JBrowse link 7 54,978,453 55,159,362 RGD:9831375
G Kcnh1 potassium voltage-gated channel subfamily H member 1 JBrowse link 13 110,920,712 111,232,291 RGD:11554173
G Kcnk2 potassium two pore domain channel subfamily K member 2 JBrowse link 13 107,690,111 107,886,476 RGD:9831121
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:11554173
RGD:8554872
G Kif5a kinesin family member 5A JBrowse link 7 70,515,832 70,552,897 RGD:12859092
G Kmt2e lysine methyltransferase 2E JBrowse link 4 8,187,751 8,255,578 RGD:8554872
G L2hgdh L-2-hydroxyglutarate dehydrogenase JBrowse link 6 92,016,560 92,057,643 RGD:11554173
G Lgi1 leucine-rich, glioma inactivated 1 JBrowse link 1 256,955,944 256,996,835 RGD:12792971
G Lgi1m1Kyo leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo RGD:12792971
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:13800901
G Mcrip2 MAPK regulated co-repressor interacting protein 2 JBrowse link 10 15,230,801 15,235,740 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:11554173
RGD:8554872
G Mef2c myocyte enhancer factor 2C JBrowse link 2 11,658,534 11,822,788 RGD:8554872
RGD:11554173
G Mettl26 methyltransferase like 26 JBrowse link 10 15,239,753 15,255,054 RGD:8554872
G Mif macrophage migration inhibitory factor JBrowse link 20 13,715,219 13,732,980 RGD:4890972
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204763
G Mt-co3 mitochondrially encoded cytochrome c oxidase III JBrowse link MT 8,599 9,382 RGD:8554872
G Mt-cyb mitochondrially encoded cytochrome b JBrowse link MT 14,136 15,278 RGD:8554872
G Mt-nd2 mitochondrially encoded NADH dehydrogenase 2 JBrowse link MT 3,904 4,942 RGD:8554872
G Mt-nd4 mitochondrially encoded NADH dehydrogenase 4 JBrowse link MT 10,160 11,537 RGD:8554872
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:8554872
G Nexmif neurite extension and migration factor JBrowse link X 74,943,440 75,053,559 RGD:11554173
G Nf2 neurofibromin 2 JBrowse link 14 84,996,905 85,088,547 RGD:2315002
G Npy neuropeptide Y JBrowse link 4 79,557,856 79,565,059 RGD:11554173
G Npy2r neuropeptide Y receptor Y2 JBrowse link 2 181,528,949 181,538,145 RGD:11554173
G Nr1i2 nuclear receptor subfamily 1, group I, member 2 JBrowse link 11 65,022,100 65,058,546 RGD:13524859
G Nr4a2 nuclear receptor subfamily 4, group A, member 2 JBrowse link 3 43,111,258 43,128,391 RGD:8554872
G Nrxn2 neurexin 2 JBrowse link 1 221,792,191 221,908,047 RGD:8554872
G Ntrk2 neurotrophic receptor tyrosine kinase 2 JBrowse link 17 5,934,651 6,245,778 RGD:5684907
G Oprd1 opioid receptor, delta 1 JBrowse link 5 150,288,126 150,323,063 RGD:11554173
G Oprm1 opioid receptor, mu 1 JBrowse link 1 43,454,803 43,704,948 RGD:11554173
G Otud6b OTU domain containing 6B JBrowse link 5 28,333,019 28,350,093 RGD:8554872
G P2rx2 purinergic receptor P2X 2 JBrowse link 12 52,397,666 52,401,005 RGD:11554173
G P2rx4 purinergic receptor P2X 4 JBrowse link 12 39,308,022 39,325,673 RGD:11554173
G Pcdh19 protocadherin 19 JBrowse link X 104,387,346 104,493,914 RGD:11554173
G Pgf placental growth factor JBrowse link 6 108,994,016 109,004,598 RGD:6483572
G Pigq phosphatidylinositol glycan anchor biosynthesis, class Q JBrowse link 10 15,289,530 15,305,593 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8694298
RGD:8554872
RGD:11554173
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Pomt1 protein-O-mannosyltransferase 1 JBrowse link 3 11,253,424 11,271,873 RGD:8554872
G Ppia peptidylprolyl isomerase A JBrowse link 14 86,673,775 86,677,443 RGD:4890972
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:8554872
G Pura purine rich element binding protein A JBrowse link 18 29,104,712 29,114,918 RGD:11554173
G Rab40c Rab40c, member RAS oncogene family JBrowse link 10 15,247,913 15,283,111 RGD:8554872
G Rela RELA proto-oncogene, NF-kB subunit JBrowse link 1 220,992,770 221,003,249 RGD:13524859
G Rgs4 regulator of G-protein signaling 4 JBrowse link 13 88,054,817 88,061,108 RGD:13524511
G S100b S100 calcium binding protein B JBrowse link 20 13,130,633 13,142,856 RGD:5508766
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
RGD:11554173
G Scn1b sodium voltage-gated channel beta subunit 1 JBrowse link 1 89,550,738 89,560,469 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:11554173
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:8554872
RGD:11554173
G Selenow selenoprotein W JBrowse link 1 77,530,692 77,535,765 RGD:11554173
G Sirt1 sirtuin 1 JBrowse link 20 26,831,971 26,851,587 RGD:9585747
G Slc12a2 solute carrier family 12 member 2 JBrowse link 18 52,917,124 52,985,281 RGD:11554173
G Slc12a5 solute carrier family 12 member 5 JBrowse link 3 161,433,303 161,465,078 RGD:11554173
G Slc1a1 solute carrier family 1 member 1 JBrowse link 1 246,955,017 247,035,159 RGD:11554173
G Slc1a2 solute carrier family 1 member 2 JBrowse link 3 92,518,679 92,665,731 RGD:11554173
G Slc1a3 solute carrier family 1 member 3 JBrowse link 2 57,860,881 57,935,363 RGD:11554173
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:8554872
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:8554872
G Slc4a10 solute carrier family 4 member 10 JBrowse link 3 47,995,812 48,287,897 RGD:11554173
G Slc6a1 solute carrier family 6 member 1 JBrowse link 4 146,258,842 146,292,176 RGD:1643214
RGD:11554173
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 RGD:11554173
G Snap25 synaptosome associated protein 25 JBrowse link 3 129,697,408 129,788,417 RGD:11554173
G Sparcl1 SPARC like 1 JBrowse link 14 6,994,261 7,025,309 RGD:11554173
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:8554872
G Stambp Stam binding protein JBrowse link 4 115,249,343 115,277,340 RGD:11554173
G Strada STE20 related adaptor alpha JBrowse link 10 94,355,369 94,384,404 RGD:8554872
G Stx1b syntaxin 1B JBrowse link 1 199,251,842 199,270,465 RGD:11554173
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:11554173
G Syn2 synapsin II JBrowse link 4 147,037,179 147,195,096 RGD:13592920
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link 20 5,535,434 5,564,657 RGD:11554173
G Tango2 transport and golgi organization 2 homolog JBrowse link 11 86,793,959 86,840,556 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:8554872
G Tbr1 T-box, brain, 1 JBrowse link 3 47,677,720 47,685,902 RGD:8554872
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
G Th tyrosine hydroxylase JBrowse link 1 216,073,034 216,080,287 RGD:5128800
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:13524859
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 JBrowse link 1 101,293,300 101,323,484 RGD:8554872
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:11554173
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:11554173
G Tshr thyroid stimulating hormone receptor JBrowse link 6 115,170,290 115,306,871 RGD:8554872
G Txnrd1 thioredoxin reductase 1 JBrowse link 7 26,946,124 26,984,400 RGD:11554173
G Ube3a ubiquitin protein ligase E3A JBrowse link 1 116,586,901 116,678,161 RGD:11554173
G Vdac1 voltage-dependent anion channel 1 JBrowse link 10 37,724,915 37,752,827 RGD:11554173
G Vdac2 voltage-dependent anion channel 2 JBrowse link 15 2,634,622 2,648,548 RGD:11554173
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:11554173
G Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 JBrowse link 10 15,243,429 15,245,757 RGD:8554872
absence epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:8554872
G Pcdh19 protocadherin 19 JBrowse link X 104,387,346 104,493,914 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase JBrowse link 9 78,862,013 78,882,061 RGD:8554872
RGD:7240710
RGD:11554173
Alcohol Withdrawal Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc29a1 solute carrier family 29 member 1 JBrowse link 9 17,784,468 17,799,008 RGD:11554173
Arthrogryposis, Mental Retardation, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc35a3 solute carrier family 35 member A3 JBrowse link 2 219,705,618 219,741,886 RGD:7240710
RGD:8554872
autosomal dominant mental retardation 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mef2c myocyte enhancer factor 2C JBrowse link 2 11,658,534 11,822,788 RGD:7240710
RGD:8554872
autosomal dominant nocturnal frontal lobe epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit JBrowse link 15 42,808,897 42,825,179 RGD:8554872
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:8554872
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit JBrowse link 2 189,088,570 189,096,785 RGD:737782
RGD:8554872
G Crh corticotropin releasing hormone JBrowse link 2 104,459,999 104,461,863 RGD:8554872
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 3 176,657,104 176,666,282 RGD:8554872
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor JBrowse link 3 176,690,507 176,692,272 RGD:8554872
G Prima1 proline rich membrane anchor 1 JBrowse link 6 127,075,954 127,127,985 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:8554872
G Tbx19 T-box 19 JBrowse link 13 83,403,263 83,426,305 RGD:8554872
autosomal dominant nocturnal frontal lobe epilepsy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:7240710
RGD:8554872
autosomal dominant nocturnal frontal lobe epilepsy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit JBrowse link 2 189,088,570 189,096,785 RGD:7240710
RGD:8554872
autosomal dominant nocturnal frontal lobe epilepsy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit JBrowse link 15 42,808,897 42,825,179 RGD:7240710
RGD:8554872
autosomal dominant nocturnal frontal lobe epilepsy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:7240710
RGD:8554872
G Spag1 sperm associated antigen 1 JBrowse link 7 74,994,379 75,054,294 RGD:8554872
autosomal dominant non-syndromic intellectual disability 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:7240710
RGD:8554872
Autosomal Recessive Infantile Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnk2 tyrosine kinase, non-receptor, 2 JBrowse link 11 71,348,726 71,388,520 RGD:8554872
autosomal recessive spinocerebellar ataxia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:7240710
RGD:8554872
Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:13592920
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:13592920
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:7240710
RGD:8554872
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:7240710
RGD:8554872
benign epilepsy with centrotemporal spikes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asah1 N-acylsphingosine amidohydrolase 1 JBrowse link 16 53,998,604 54,030,006 RGD:8554872
G Chd2 chromodomain helicase DNA binding protein 2 JBrowse link 1 134,757,934 134,873,053 RGD:8554872
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:8554872
G Cpa6 carboxypeptidase A6 JBrowse link 5 8,215,443 8,574,655 RGD:8554872
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:8554872
G Depdc5 DEP domain containing 5 JBrowse link 14 83,089,000 83,219,576 RGD:8554872
G Epm2a EPM2A glucan phosphatase, laforin JBrowse link 1 5,448,958 5,571,512 RGD:8554872
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:8554872
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 JBrowse link 3 2,507,745 2,534,664 RGD:8554872
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:11554173
RGD:8554872
G Ier3ip1 immediate early response 3 interacting protein 1 JBrowse link 4 132,140,802 132,152,059 RGD:8554872
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 7 106,714,479 107,009,639 RGD:8554872
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:8554872
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
G Pcdh19 protocadherin 19 JBrowse link X 104,387,346 104,493,914 RGD:8554872
G Plcb1 phospholipase C beta 1 JBrowse link 3 127,721,244 128,419,565 RGD:8554872
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:8554872
G Prickle2 prickle planar cell polarity protein 2 JBrowse link 4 124,238,167 124,584,176 RGD:8554872
G Rbfox1 RNA binding fox-1 homolog 1 JBrowse link 10 8,312,961 10,437,778 RGD:8554872
G Rbfox3 RNA binding fox-1 homolog 3 JBrowse link 10 107,517,916 107,850,764 RGD:8554872
G Reln reelin JBrowse link 4 9,347,533 9,774,257 RGD:8554872
G Scarb2 scavenger receptor class B, member 2 JBrowse link 14 17,064,173 17,115,620 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Scn1b sodium voltage-gated channel beta subunit 1 JBrowse link 1 89,550,738 89,560,469 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:8554872
G Slc6a1 solute carrier family 6 member 1 JBrowse link 4 146,258,842 146,292,176 RGD:8554872
G Snip1 Smad nuclear interacting protein 1 JBrowse link 15 19,275,273 19,282,753 RGD:8554872
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:8554872
G Strada STE20 related adaptor alpha JBrowse link 10 94,355,369 94,384,404 RGD:8554872
G Szt2 SZT2 subunit of KICSTOR complex JBrowse link 5 137,192,120 137,238,384 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:8554872
benign familial infantile epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:13592920
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:13592920
Benign Familial Infantile Seizures, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:7240710
RGD:8554872
Benign Familial Infantile Seizures, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:7240710
RGD:8554872
RGD:13207596
Benign Familial Infantile Seizures, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:8554872
RGD:7240710
Benign Familial Neonatal Seizures, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:7240710
RGD:8554872
Benign Familial Neonatal Seizures, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 7 106,714,479 107,009,639 RGD:7240710
RGD:8554872
RGD:9686433
RGD:9686418
Benign Neonatal Epilepsy, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
benign neonatal seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh7a1 aldehyde dehydrogenase 7 family, member A1 JBrowse link 18 51,619,007 51,651,267 RGD:8554872
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 13 90,651,682 90,676,629 RGD:1358436
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:11554173
RGD:8554872
G Kcnq3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 7 106,714,479 107,009,639 RGD:8554872
RGD:13592920
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
G Scn3a sodium voltage-gated channel alpha subunit 3 JBrowse link 3 51,530,897 51,643,140 RGD:8554872
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phf6 PHD finger protein 6 JBrowse link X 158,698,353 158,739,855 RGD:7240710
RGD:8554872
branched-chain keto acid dehydrogenase kinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Armc5 armadillo repeat containing 5 JBrowse link 1 199,655,069 199,662,419 RGD:8554872
G Bckdk branched chain ketoacid dehydrogenase kinase JBrowse link 1 199,351,628 199,356,299 RGD:7240710
RGD:8554872
G Bcl7c BAF chromatin remodeling complex subunit BCL7C JBrowse link 1 199,112,192 199,159,125 RGD:8554872
G Ccdc189 coiled-coil domain containing 189 JBrowse link 1 199,032,105 199,037,267 RGD:8554872
G Cox6a2 cytochrome c oxidase subunit 6A2 JBrowse link 1 199,624,037 199,626,255 RGD:8554872
G Ctf1 cardiotrophin 1 JBrowse link 1 199,162,319 199,168,296 RGD:8554872
G Fbrs fibrosin JBrowse link 1 198,925,265 198,938,939 RGD:8554872
G Fbxl19 F-box and leucine-rich repeat protein 19 JBrowse link 1 199,196,126 199,217,147 RGD:8554872
G Fus FUS RNA binding protein JBrowse link 1 199,412,805 199,426,705 RGD:8554872
G Hsd3b7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 JBrowse link 1 199,248,084 199,251,745 RGD:8554872
G Itgad integrin subunit alpha D JBrowse link 1 199,595,968 199,623,931 RGD:8554872
G Itgam integrin subunit alpha M JBrowse link 1 199,495,312 199,545,738 RGD:8554872
G Itgax integrin subunit alpha X JBrowse link 1 199,555,560 199,576,948 RGD:8554872
G Kat8 lysine acetyltransferase 8 JBrowse link 1 199,360,645 199,372,925 RGD:8554872
G Orai3 ORAI calcium release-activated calcium modulator 3 JBrowse link 1 199,217,504 199,222,363 RGD:8554872
G Phkg2 phosphorylase kinase catalytic subunit gamma 2 JBrowse link 1 199,019,298 199,032,053 RGD:8554872
G Prr14 proline rich 14 JBrowse link 1 198,910,994 198,915,473 RGD:8554872
G Prss36 serine protease 36 JBrowse link 1 199,379,374 199,396,339 RGD:8554872
G Prss53 serine protease 53 JBrowse link 1 199,331,108 199,337,129 RGD:8554872
G Prss8 serine protease 8 JBrowse link 1 199,372,519 199,377,035 RGD:8554872
G Pycard PYD and CARD domain containing JBrowse link 1 199,438,029 199,439,062 RGD:8554872
G RGD1310127 similar to cDNA sequence BC017158 JBrowse link 1 199,687,775 199,716,205 RGD:8554872
G Rnf40 ring finger protein 40 JBrowse link 1 199,037,472 199,052,823 RGD:8554872
G Setd1a SET domain containing 1A, histone lysine methyltransferase JBrowse link 1 199,222,584 199,247,993 RGD:8554872
G Slc5a2 solute carrier family 5 member 2 JBrowse link 1 199,682,688 199,688,809 RGD:8554872
G Srcap Snf2-related CREBBP activator protein JBrowse link 1 198,957,764 199,007,576 RGD:8554872
G Stx1b syntaxin 1B JBrowse link 1 199,251,842 199,270,465 RGD:8554872
G Stx4 syntaxin 4 JBrowse link 1 199,287,384 199,295,606 RGD:8554872
G Tgfb1i1 transforming growth factor beta 1 induced transcript 1 JBrowse link 1 199,664,039 199,670,970 RGD:8554872
G Trim72 tripartite motif containing 72 JBrowse link 1 199,450,042 199,457,902 RGD:8554872
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 JBrowse link 1 199,338,785 199,341,306 RGD:8554872
G Zfp629 zinc finger protein 629 JBrowse link 1 199,052,430 199,065,639 RGD:8554872
G Zfp646 zinc finger protein 646 JBrowse link 1 199,321,354 199,331,256 RGD:8554872
G Zfp668 zinc finger protein 668 JBrowse link 1 199,310,935 199,321,231 RGD:8554872
G Zfp688 zinc finger protein 688 JBrowse link 1 198,865,950 198,869,068 RGD:8554872
G Zfp689 zinc finger protein 689 JBrowse link 1 198,894,000 198,900,364 RGD:8554872
G Zfp764 zinc finger protein 764 JBrowse link 1 198,834,995 198,839,251 RGD:8554872
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:8554872
RGD:7240710
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:8554872
RGD:7240710
G Stn1 STN1 subunit of CST complex JBrowse link 1 267,281,786 267,315,714 RGD:11554173
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stn1 STN1 subunit of CST complex JBrowse link 1 267,281,786 267,315,714 RGD:8554872
RGD:7240710
childhood absence epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:1598976
RGD:11554173
G Cacna1agry calcium voltage-gated channel subunit alpha1 A; groggy mutant RGD:1598976
G Cacna1h calcium voltage-gated channel subunit alpha1 H JBrowse link 10 14,730,932 14,789,201 RGD:1358447
RGD:8554872
RGD:7240710
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 8 116,154,661 116,285,643 RGD:11554173
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 JBrowse link 7 119,228,112 119,353,332 RGD:13524553
G Cacng3 calcium voltage-gated channel auxiliary subunit gamma 3 JBrowse link 1 192,613,766 192,708,371 RGD:728397
G Efhc1 EF-hand domain containing 1 JBrowse link 9 27,068,505 27,107,713 RGD:7240710
RGD:8554872
G Gabra1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 10 27,310,718 27,371,802 RGD:8554872
G Gabra6 gamma-aminobutyric acid type A receptor alpha 6 subunit JBrowse link 10 27,847,447 27,862,896 RGD:8554872
G Gabrb3 gamma-aminobutyric acid type A receptor beta 3 subunit JBrowse link 1 113,034,251 113,265,364 RGD:1601269
RGD:8554872
RGD:11554173
RGD:7240710
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:1358631
RGD:11554173
G Glud1 glutamate dehydrogenase 1 JBrowse link 16 10,661,486 10,695,557 RGD:6484590
G Grik1 glutamate ionotropic receptor kainate type subunit 1 JBrowse link 11 27,811,954 28,213,940 RGD:1358334
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 JBrowse link 2 50,099,576 50,499,799 RGD:9686420
G Htr7 5-hydroxytryptamine receptor 7 JBrowse link 1 254,547,964 254,671,811 RGD:6480686
G Jrk Jrk helix-turn-helix protein JBrowse link 7 115,941,788 115,946,471 RGD:11554173
G Kcnk9 potassium two pore domain channel subfamily K member 9 JBrowse link 7 113,894,918 113,938,397 RGD:11554173
G Lgi4 leucine-rich repeat LGI family, member 4 JBrowse link 1 89,491,588 89,502,939 RGD:1302591
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547934
G Npy neuropeptide Y JBrowse link 4 79,557,856 79,565,059 RGD:10448963
RGD:10448964
G Npy1r neuropeptide Y receptor Y1 JBrowse link 16 24,779,480 24,789,131 RGD:10448963
G Npy2r neuropeptide Y receptor Y2 JBrowse link 2 181,528,949 181,538,145 RGD:10448963
G Npy5r neuropeptide Y receptor Y5 JBrowse link 16 24,796,685 24,805,730 RGD:10448963
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:11058811
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta JBrowse link 7 75,573,553 75,598,295 RGD:9587483
childhood electroclinical syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:13592920
childhood onset epileptic encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc120 coiled-coil domain containing 120 JBrowse link X 15,610,230 15,616,727 RGD:8554872
G Chd2 chromodomain helicase DNA binding protein 2 JBrowse link 1 134,757,934 134,873,053 RGD:7240710
RGD:8554872
G Fmr1 fragile X mental retardation 1 JBrowse link X 154,684,924 154,722,369 RGD:11667971
G Praf2 PRA1 domain family, member 2 JBrowse link X 15,618,324 15,620,992 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:11537471
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:8554872
Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc9a6 solute carrier family 9 member A6 JBrowse link X 158,979,081 159,045,019 RGD:7240710
RGD:8554872
chromosome 15q13.3 microdeletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 1 123,897,341 124,039,263 RGD:8554872
RGD:11554173
G Fan1 FANCD2 and FANCI associated nuclease 1 JBrowse link 1 125,182,117 125,209,772 RGD:8554872
G Klf13 Kruppel-like factor 13 JBrowse link 1 124,772,596 124,803,363 RGD:8554872
RGD:11554173
G Mir211 microRNA 211 JBrowse link 1 125,042,119 125,042,224 RGD:8554872
G Mtmr10 myotubularin related protein 10 JBrowse link 1 125,124,743 125,175,857 RGD:8554872
G Otud7a OTU deubiquitinase 7A JBrowse link 1 124,311,873 124,655,437 RGD:8554872
RGD:13592920
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 JBrowse link 1 124,983,391 125,101,759 RGD:8554872
complex partial epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn3a sodium voltage-gated channel alpha subunit 3 JBrowse link 3 51,530,897 51,643,140 RGD:11554173
congenital disorder of glycosylation type IIm term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc120 coiled-coil domain containing 120 JBrowse link X 15,610,230 15,616,727 RGD:8554872
G Eras ES cell expressed Ras JBrowse link X 15,318,215 15,322,601 RGD:8554872
G Gata1 GATA binding protein 1 JBrowse link X 15,273,937 15,281,759 RGD:8554872
G Glod5 glyoxalase domain containing 5 JBrowse link X 15,225,645 15,240,458 RGD:8554872
G Gripap1 GRIP1 associated protein 1 JBrowse link X 15,523,929 15,553,702 RGD:8554872
G Hdac6 histone deacetylase 6 JBrowse link X 15,295,372 15,316,673 RGD:8554872
G Kcnd1 potassium voltage-gated channel subfamily D member 1 JBrowse link X 15,506,724 15,520,712 RGD:8554872
G Otud5 OTU deubiquitinase 5 JBrowse link X 15,471,212 15,504,372 RGD:8554872
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor JBrowse link X 15,324,263 15,327,705 RGD:8554872
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase JBrowse link X 15,462,621 15,467,890 RGD:8554872
G Pqbp1 polyglutamine binding protein 1 JBrowse link X 15,448,570 15,453,130 RGD:8554872
G Praf2 PRA1 domain family, member 2 JBrowse link X 15,618,324 15,620,992 RGD:8554872
G Slc35a2 solute carrier family 35 member A2 JBrowse link X 15,453,184 15,461,990 RGD:7240710
RGD:8554872
G Suv39h1 suppressor of variegation 3-9 homolog 1 JBrowse link X 146,532,002 146,533,538 RGD:8554872
G Tfe3 transcription factor binding to IGHM enhancer 3 JBrowse link X 15,574,579 15,587,826 RGD:8554872
G Timm17b translocase of inner mitochondrial membrane 17b JBrowse link X 15,441,369 15,448,452 RGD:8554872
G Was WASP actin nucleation promoting factor JBrowse link X 15,155,246 15,164,099 RGD:8554872
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:8554872
cortical dysplasia-focal epilepsy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:7240710
RGD:8554872
G Tpk1 thiamin pyrophosphokinase 1 JBrowse link 4 72,792,252 73,174,179 RGD:8554872
Craniosynostosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Msx2 msh homeobox 2 JBrowse link 17 11,683,862 11,689,527 RGD:7240710
RGD:8554872
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:8554872
RGD:7240710
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atn1 atrophin 1 JBrowse link 4 157,267,394 157,281,199 RGD:8554872
RGD:7240710
developmental delay and seizures with or without movement abnormalities term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhdds dehydrodolichyl diphosphate synthase subunit JBrowse link 5 152,200,681 152,227,669 RGD:8554872
RGD:7240710
Developmental Delay, Epilepsy, and Neonatal Diabetes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj11 potassium voltage-gated channel subfamily J member 11 JBrowse link 1 102,103,093 102,107,134 RGD:8554872
Dravet syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
RGD:7240710
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
RGD:7240710
G Snx27 sorting nexin family member 27 JBrowse link 2 195,738,613 195,821,608 RGD:8554872
Drug Resistant Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gad1 glutamate decarboxylase 1 JBrowse link 3 56,861,440 56,902,139 RGD:8554872
Dyskinesias, Seizures, and Intellectual Developmental Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Deaf1 DEAF1 transcription factor JBrowse link 1 214,283,787 214,317,466 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef15 Rho guanine nucleotide exchange factor 15 JBrowse link 10 55,532,097 55,545,675 RGD:8554872
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:13592920
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 8 116,154,661 116,285,643 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:13592920
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:8554872
G Csrnp3 cysteine and serine rich nuclear protein 3 JBrowse link 3 51,883,559 52,120,290 RGD:8554872
G Cyb561d2 cytochrome b561 family, member D2 JBrowse link 8 116,295,328 116,297,879 RGD:8554872
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 3 176,657,104 176,666,282 RGD:8554872
G Gabra2 gamma-aminobutyric acid type A receptor alpha2 subunit JBrowse link 14 39,662,411 39,801,082 RGD:8554872
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 JBrowse link 3 52,174,469 52,212,395 RGD:8554872
G Gnao1 G protein subunit alpha o1 JBrowse link 19 11,513,201 11,669,578 RGD:8554872
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 JBrowse link 2 50,099,576 50,499,799 RGD:8554872
G Kcnh5 potassium voltage-gated channel subfamily H member 5 JBrowse link 6 97,872,831 98,157,087 RGD:8554872
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P JBrowse link 11 34,592,128 34,598,253 RGD:8554872
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor JBrowse link 3 176,690,507 176,692,272 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
G Scn3a sodium voltage-gated channel alpha subunit 3 JBrowse link 3 51,530,897 51,643,140 RGD:8554872
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:13592920
RGD:8554872
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:8554872
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:8554872
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:8554872
early infantile epileptic encephalopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:8554872
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 115,561,329 115,589,792 RGD:8554872
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:7240710
RGD:8554872
RGD:11565846
RGD:11565838
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Csnk1e casein kinase 1, epsilon JBrowse link 7 120,651,976 120,675,559 RGD:8554872
G Gabrb3 gamma-aminobutyric acid type A receptor beta 3 subunit JBrowse link 1 113,034,251 113,265,364 RGD:8554872
G Gnao1 G protein subunit alpha o1 JBrowse link 19 11,513,201 11,669,578 RGD:8554872
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 JBrowse link 2 50,099,576 50,499,799 RGD:11554173
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
G Plcb1 phospholipase C beta 1 JBrowse link 3 127,721,244 128,419,565 RGD:8554872
G Slc35a2 solute carrier family 35 member A2 JBrowse link X 15,453,184 15,461,990 RGD:8554872
G Synj1 synaptojanin 1 JBrowse link 11 31,105,784 31,181,573 RGD:8554872
G Szt2 SZT2 subunit of KICSTOR complex JBrowse link 5 137,192,120 137,238,384 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:8554872
early infantile epileptic encephalopathy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcb1 phospholipase C beta 1 JBrowse link 3 127,721,244 128,419,565 RGD:7240710
RGD:8554872
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:8554872
early infantile epileptic encephalopathy 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:7240710
RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
early infantile epileptic encephalopathy 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnao1 G protein subunit alpha o1 JBrowse link 19 11,513,201 11,669,578 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Szt2 SZT2 subunit of KICSTOR complex JBrowse link 5 137,192,120 137,238,384 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabra1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 10 27,310,718 27,371,802 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bend2 BEN domain containing 2 JBrowse link X 35,151,376 35,200,501 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
RGD:7240710
RGD:12791015
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872
G Rai2 retinoic acid induced 2 JBrowse link X 34,731,891 34,794,589 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
G Scml1 Scm polycomb group protein like 1 JBrowse link X 34,676,728 34,694,251 RGD:8554872
G Scml2 Scm polycomb group protein like 2 JBrowse link X 35,305,235 35,431,271 RGD:8554872
early infantile epileptic encephalopathy 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Necap1 NECAP endocytosis associated 1 JBrowse link 4 155,709,712 155,724,801 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock7 dedicator of cytokinesis 7 JBrowse link 5 117,595,194 117,780,844 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 JBrowse link 2 50,099,576 50,499,799 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 JBrowse link 10 58,599,690 58,631,194 RGD:8554872
G LOC100912483 uncharacterized LOC100912483 JBrowse link 10 58,784,444 58,787,713 RGD:8554872
G Med31 mediator complex subunit 31 JBrowse link 10 58,780,987 58,784,369 RGD:8554872
G Pimreg PICALM interacting mitotic regulator JBrowse link 10 58,613,588 58,618,524 RGD:8554872
G Pitpnm3 PITPNM family member 3 JBrowse link 10 58,618,679 58,722,679 RGD:8554872
G RGD1304728 similar to 4933427D14Rik protein JBrowse link 10 58,726,721 58,776,718 RGD:8554872
G Slc13a5 solute carrier family 13 member 5 JBrowse link 10 58,806,581 58,835,549 RGD:8554872
RGD:7240710
G Txndc17 thioredoxin domain containing 17 JBrowse link 10 58,776,792 58,779,764 RGD:8554872
early infantile epileptic encephalopathy 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnb1 potassium voltage-gated channel subfamily B member 1 JBrowse link 3 163,850,785 163,935,610 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:8554872
RGD:7240710
G Mbd5 methyl-CpG binding domain protein 5 JBrowse link 3 33,364,812 33,504,144 RGD:8554872
early infantile epileptic encephalopathy 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:7240710
early infantile epileptic encephalopathy 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sik1 salt-inducible kinase 1 JBrowse link 20 10,670,747 10,680,279 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ciz1 CDKN1A interacting zinc finger protein 1 JBrowse link 3 11,392,046 11,409,218 RGD:8554872
G Dnm1 dynamin 1 JBrowse link 3 11,338,081 11,382,043 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcna2 potassium voltage-gated channel subfamily A member 2 JBrowse link 2 209,838,607 209,852,471 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:8554872
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 3 176,657,104 176,666,282 RGD:7240710
RGD:8554872
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor JBrowse link 3 176,690,507 176,692,272 RGD:8554872
early infantile epileptic encephalopathy 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc12a5 solute carrier family 12 member 5 JBrowse link 3 161,433,303 161,465,078 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpa inosine triphosphatase JBrowse link 3 123,209,611 123,221,266 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 115,561,329 115,589,792 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frrs1l ferric-chelate reductase 1-like JBrowse link 5 73,997,958 74,029,381 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arv1 ARV1 homolog, fatty acid homeostasis modulator JBrowse link 19 57,484,720 57,496,539 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a12 solute carrier family 25 member 12 JBrowse link 3 57,881,951 57,998,214 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam129b family with sequence similarity 129, member B JBrowse link 3 11,921,715 11,971,327 RGD:8554872
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:7240710
RGD:8554872
RGD:12903960
RGD:11068998
early infantile epileptic encephalopathy 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Guf1 GUF1 homolog, GTPase JBrowse link 14 62,609,484 62,628,862 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc1a2 solute carrier family 1 member 2 JBrowse link 3 92,518,679 92,665,731 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrb3 gamma-aminobutyric acid type A receptor beta 3 subunit JBrowse link 1 113,034,251 113,265,364 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uba5 ubiquitin-like modifier activating enzyme 5 JBrowse link 8 112,578,607 112,594,192 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrb1 gamma-aminobutyric acid type A receptor beta 1 subunit JBrowse link 14 38,631,192 39,112,598 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 46 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2d glutamate ionotropic receptor NMDA type subunit 2D JBrowse link 1 101,819,068 101,859,146 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf12 fibroblast growth factor 12 JBrowse link 11 75,606,360 76,171,078 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3b2 adaptor related protein complex 3 subunit beta 2 JBrowse link 1 143,284,041 143,315,846 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dennd5a DENN domain containing 5A JBrowse link 1 174,524,047 174,588,553 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 50 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase JBrowse link 6 26,657,507 26,680,459 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mdh2 malate dehydrogenase 2 JBrowse link 12 23,941,451 23,954,406 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 52 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn1b sodium voltage-gated channel beta subunit 1 JBrowse link 1 89,550,738 89,560,469 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 53 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Synj1 synaptojanin 1 JBrowse link 11 31,105,784 31,181,573 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 54 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpu heterogeneous nuclear ribonucleoprotein U JBrowse link 13 96,222,093 96,238,845 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 55 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P JBrowse link 11 34,592,128 34,598,253 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 56 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma JBrowse link 12 23,789,547 23,817,884 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 57 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnt2 potassium sodium-activated channel subfamily T member 2 JBrowse link 13 57,130,855 57,520,263 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 58 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ntrk2 neurotrophic receptor tyrosine kinase 2 JBrowse link 17 5,934,651 6,245,778 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 59 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 JBrowse link 5 62,276,100 62,621,737 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 60 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnpy3 canopy FGF signaling regulator 3 JBrowse link 9 16,543,715 16,558,441 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 61 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam22 ADAM metallopeptidase domain 22 JBrowse link 4 22,864,485 23,002,969 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 62 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn3a sodium voltage-gated channel alpha subunit 3 JBrowse link 3 51,530,897 51,643,140 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 63 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cplx1 complexin 1 JBrowse link 14 2,194,895 2,226,610 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 65 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyfip2 cytoplasmic FMR1 interacting protein 2 JBrowse link 10 31,278,746 31,419,235 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 66 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pacs2 phosphofurin acidic cluster sorting protein 2 JBrowse link 6 137,824,136 137,889,144 RGD:8554872
RGD:7240710
early infantile epileptic encephalopathy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:7240710
RGD:8554872
G Nexmif neurite extension and migration factor JBrowse link X 74,943,440 75,053,559 RGD:8554872
early infantile epileptic encephalopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 JBrowse link X 64,249,576 64,428,444 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcdh19 protocadherin 19 JBrowse link X 104,387,346 104,493,914 RGD:7240710
RGD:8554872
G Srpx2 sushi-repeat-containing protein, X-linked 2 JBrowse link X 104,734,035 104,760,658 RGD:8554872
G Tnmd tenomodulin JBrowse link X 104,684,676 104,700,173 RGD:8554872
G Tspan6 tetraspanin 6 JBrowse link X 104,719,930 104,729,606 RGD:8554872
Early Infantile Epileptic Encephalopathy, 64 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rhobtb2 Rho-related BTB domain containing 2 JBrowse link 15 51,465,148 51,485,562 RGD:8554872
RGD:7240710
Early Infantile Epileptic Encephalopathy, 67 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cux2 cut-like homeobox 2 JBrowse link 12 40,016,774 40,221,067 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy, 68 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trak1 trafficking kinesin protein 1 JBrowse link 8 129,946,596 130,106,382 RGD:8554872
RGD:7240710
Early Infantile Epileptic Encephalopathy, 69 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1e calcium voltage-gated channel subunit alpha1 E JBrowse link 13 71,899,445 72,534,992 RGD:8554872
RGD:7240710
Early Infantile Epileptic Encephalopathy, 70 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Phactr1 phosphatase and actin regulator 1 JBrowse link 17 23,245,423 23,761,207 RGD:8554872
RGD:7240710
Early Infantile Epileptic Encephalopathy, 71 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gls glutaminase JBrowse link 9 54,212,622 54,284,879 RGD:7240710
early myoclonic encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jmjd1c jumonji domain containing 1C JBrowse link 20 22,751,743 22,914,080 RGD:8554872
G Kcnd2 potassium voltage-gated channel subfamily D member 2 JBrowse link 4 48,309,283 48,816,804 RGD:8554872
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:8554872
EAST syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 13 90,651,682 90,676,629 RGD:8554872
G Igsf8 immunoglobulin superfamily, member 8 JBrowse link 13 90,692,590 90,703,262 RGD:8554872
G Kcnj10 potassium voltage-gated channel subfamily J member 10 JBrowse link 13 90,722,945 90,753,338 RGD:7240710
RGD:8554872
RGD:8662866
G Kcnj9 potassium voltage-gated channel subfamily J member 9 JBrowse link 13 90,703,046 90,710,148 RGD:8554872
epilepsy with generalized tonic-clonic seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:11554173
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:11554173
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 JBrowse link 7 123,599,264 123,608,436 RGD:11554173
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 1 191,997,512 192,025,350 RGD:8554872
G Fgf2 fibroblast growth factor 2 JBrowse link 2 124,081,072 124,134,133 RGD:11554173
G Hbegf heparin-binding EGF-like growth factor JBrowse link 18 29,330,302 29,340,185 RGD:11554173
G Kcnj10 potassium voltage-gated channel subfamily J member 10 JBrowse link 13 90,722,945 90,753,338 RGD:8662897
G Mbd5 methyl-CpG binding domain protein 5 JBrowse link 3 33,364,812 33,504,144 RGD:8554872
G Nes nestin JBrowse link 2 187,343,109 187,352,972 RGD:11554173
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:11554173
G Ntf3 neurotrophin 3 JBrowse link 4 158,636,883 158,705,886 RGD:11554173
G Oxt oxytocin/neurophysin I prepropeptide JBrowse link 3 123,106,694 123,107,534 RGD:11554173
G Pcdh19 protocadherin 19 JBrowse link X 104,387,346 104,493,914 RGD:8554872
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:8554872
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:8554872
EPILEPSY, CHILDHOOD ABSENCE 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrb3 gamma-aminobutyric acid type A receptor beta 3 subunit JBrowse link 1 113,034,251 113,265,364 RGD:8554872
G Rorb RAR-related orphan receptor B JBrowse link 1 234,252,757 234,442,597 RGD:8554872
EPILEPSY, CHILDHOOD ABSENCE 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:8554872
RGD:7240710
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plpbp pyridoxal phosphate binding protein JBrowse link 16 69,164,654 69,176,245 RGD:8554872
RGD:7240710
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Depdc5 DEP domain containing 5 JBrowse link 14 83,089,000 83,219,576 RGD:7240710
RGD:8554872
RGD:11554173
G Nprl2 NPR2-like, GATOR1 complex subunit JBrowse link 8 116,297,950 116,301,123 RGD:11554173
G Nprl3 NPR3-like, GATOR1 complex subunit JBrowse link 10 15,620,824 15,661,332 RGD:11554173
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nprl2 NPR2-like, GATOR1 complex subunit JBrowse link 8 116,297,950 116,301,123 RGD:8554872
RGD:7240710
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nprl3 NPR3-like, GATOR1 complex subunit JBrowse link 10 15,620,824 15,661,332 RGD:8554872
RGD:7240710
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn3a sodium voltage-gated channel alpha subunit 3 JBrowse link 3 51,530,897 51,643,140 RGD:8554872
RGD:7240710
Epilepsy, Hearing Loss, and Mental Retardation Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spata5 spermatogenesis associated 5 JBrowse link 2 124,149,872 124,341,138 RGD:7240710
RGD:8554872
Experimental Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 JBrowse link 7 70,360,199 70,377,422 RGD:13838850
G Becn1 beclin 1 JBrowse link 10 89,209,944 89,225,297 RGD:11561923
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:12880363
G Gstp1 glutathione S-transferase pi 1 JBrowse link 1 219,291,679 219,294,147 RGD:10401935
G Rasgrf1 RAS protein-specific guanine nucleotide-releasing factor 1 JBrowse link 8 97,277,250 97,405,095 RGD:10003135
G Rgs10 regulator of G-protein signaling 10 JBrowse link 1 199,782,076 199,823,440 RGD:13524540
G Rgs4 regulator of G-protein signaling 4 JBrowse link 13 88,054,817 88,061,108 RGD:13524540
G Rgs7 regulator of G-protein signaling 7 JBrowse link 13 93,095,659 93,534,452 RGD:13524540
G Rgs8 regulator of G-protein signaling 8 JBrowse link 13 71,086,654 71,141,820 RGD:13524540
G Sv2a synaptic vesicle glycoprotein 2a JBrowse link 2 198,321,100 198,336,889 RGD:12792961
G Sv2am1Kyo synaptic vesicle glycoprotein 2a; ENU induced mutant 1, Kyo, RGD:12792961
G Uqcrfs1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 JBrowse link 17 35,677,984 35,682,262 RGD:2303356
Familial Adult Myoclonic Epilepsy, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Samd12 sterile alpha motif domain containing 12 JBrowse link 7 92,995,599 93,286,757 RGD:8554872
RGD:7240710
Familial Adult Myoclonic Epilepsy, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adra2b adrenoceptor alpha 2B JBrowse link 3 119,805,941 119,809,987 RGD:7240710
Familial Adult Myoclonic Epilepsy, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntn2 contactin 2 JBrowse link 13 49,280,913 49,314,061 RGD:7240710
RGD:8554872
Familial Adult Myoclonic Epilepsy, 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnrc6a trinucleotide repeat containing adaptor 6A JBrowse link 1 192,991,584 193,146,403 RGD:8554872
RGD:7240710
Familial Adult Myoclonic Epilepsy, 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rapgef2 Rap guanine nucleotide exchange factor 2 JBrowse link 2 177,836,191 178,057,378 RGD:8554872
RGD:7240710
familial encephalopathy with neuroserpin inclusion bodies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:8554872
G Serpinb7 serpin family B member 7 JBrowse link 13 27,282,456 27,354,775 RGD:7207386
G Serpini1 serpin family I member 1 JBrowse link 2 174,013,058 174,111,693 RGD:7240710
RGD:8554872
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mvp major vault protein JBrowse link 1 198,420,813 198,448,612 RGD:8554872
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:7240710
RGD:8554872
Familial Temporal Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpa6 carboxypeptidase A6 JBrowse link 5 8,215,443 8,574,655 RGD:8554872
familial temporal lobe epilepsy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lgi1 leucine-rich, glioma inactivated 1 JBrowse link 1 256,955,944 256,996,835 RGD:7240710
RGD:8554872
G Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 JBrowse link 20 46,199,981 46,211,930 RGD:11554173
G Reln reelin JBrowse link 4 9,347,533 9,774,257 RGD:11554173
RGD:8554872
familial temporal lobe epilepsy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb1a ATP binding cassette subfamily B member 1A JBrowse link 4 22,339,829 22,517,642 RGD:11041150
RGD:8554872
familial temporal lobe epilepsy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpa6 carboxypeptidase A6 JBrowse link 5 8,215,443 8,574,655 RGD:7240710
RGD:8554872
familial temporal lobe epilepsy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Reln reelin JBrowse link 4 9,347,533 9,774,257 RGD:8554872
RGD:7240710
familial temporal lobe epilepsy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gal galanin and GMAP prepropeptide JBrowse link 1 218,653,059 218,657,922 RGD:8554872
RGD:7240710
Febrile Convulsions, Familial, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:8554872
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
Febrile Convulsions, Familial, 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpa6 carboxypeptidase A6 JBrowse link 5 8,215,443 8,574,655 RGD:7240710
RGD:8554872
Febrile Convulsions, Familial, 3a term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
Febrile Convulsions, Familial, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:7240710
RGD:8554872
Febrile Convulsions, Familial, 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:8554872
Febrile Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:9587751
G Amer1 APC membrane recruitment protein 1 JBrowse link X 64,686,620 64,702,504 RGD:8554872
G Ano3 anoctamin 3 JBrowse link 3 101,843,516 102,203,368 RGD:11554173
G Avp arginine vasopressin JBrowse link 3 123,117,482 123,119,460 RGD:1579871
G Casp12 caspase 12 JBrowse link 8 2,658,892 2,686,160 RGD:2311454
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:11554173
G Got1 glutamic-oxaloacetic transaminase 1 JBrowse link 1 263,246,248 263,269,762 RGD:13504853
G Got2 glutamic-oxaloacetic transaminase 2 JBrowse link 19 9,587,637 9,613,323 RGD:13504853
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 JBrowse link 2 50,099,576 50,499,799 RGD:9686385
G Hcn2 hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 JBrowse link 7 12,851,730 12,870,087 RGD:9686385
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:1626672
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:1626672
G Impa2 inositol monophosphatase 2 JBrowse link 18 63,016,577 63,050,123 RGD:11554173
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:5130920
G Nf1 neurofibromin 1 JBrowse link 10 66,732,460 66,928,706 RGD:8554872
G Npy neuropeptide Y JBrowse link 4 79,557,856 79,565,059 RGD:1580179
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:11554173
RGD:8554872
RGD:12792282
G Scn1am1Kyo sodium voltage-gated channel alpha subunit 1; ENU induced mutant1, Kyo RGD:12792282
G Scn1am2Kyo sodium voltage-gated channel alpha subunit 1; ENU induced mutant2, Kyo RGD:12792282
G Scn1b sodium voltage-gated channel beta subunit 1 JBrowse link 1 89,550,738 89,560,469 RGD:11554173
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:11554173
G Stx1b syntaxin 1B JBrowse link 1 199,251,842 199,270,465 RGD:11554173
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:8554872
Focal Cortical Dysplasia of Taylor term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:9068443
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547829
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:8554872
RGD:7240710
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:7240710
RGD:8554872
RGD:11554173
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:8554872
RGD:7240710
RGD:11554173
focal epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:1331525
G Cacna1h calcium voltage-gated channel subunit alpha1 H JBrowse link 10 14,730,932 14,789,201 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
G Cnr1 cannabinoid receptor 1 JBrowse link 5 49,307,584 49,333,064 RGD:2314658
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:8554872
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:11554173
RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547934
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:8554872
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:8554872
Focal Epilepsy, with Speech Disorder and with or without Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:7240710
RGD:8554872
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:8554872
G Itsn2 intersectin 2 JBrowse link 6 30,098,378 30,208,694 RGD:8554872
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:8554872
frontal lobe epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:11554173
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit JBrowse link 2 189,088,570 189,096,785 RGD:11554173
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:11554173
G Slc4a10 solute carrier family 4 member 10 JBrowse link 3 47,995,812 48,287,897 RGD:11554173
Generalized Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 115,561,329 115,589,792 RGD:8554872
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 13 90,651,682 90,676,629 RGD:8554872
G Atp7b ATPase copper transporting beta JBrowse link 16 74,865,516 74,944,935 RGD:8554872
G Aven apoptosis and caspase activation inhibitor JBrowse link 3 103,980,612 104,117,193 RGD:8554872
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:734669
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 JBrowse link 3 37,950,846 38,211,478 RGD:734674
RGD:11554173
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 1 123,897,341 124,039,263 RGD:11554173
G Fasn fatty acid synthase JBrowse link 10 109,987,735 110,005,901 RGD:8554872
G Folr1 folate receptor 1 JBrowse link 1 166,934,457 166,945,864 RGD:8554872
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 JBrowse link 5 62,276,100 62,621,737 RGD:8554872
G Gabrb3 gamma-aminobutyric acid type A receptor beta 3 subunit JBrowse link 1 113,034,251 113,265,364 RGD:8554872
G Gabrd gamma-aminobutyric acid type A receptor delta subunit JBrowse link 5 172,797,478 172,809,374 RGD:8554872
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:8554872
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:8554872
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 JBrowse link 2 50,099,576 50,499,799 RGD:8554872
G Hnrnpu heterogeneous nuclear ribonucleoprotein U JBrowse link 13 96,222,093 96,238,845 RGD:8554872
G Idua iduronidase, alpha-L- JBrowse link 14 2,041,828 2,056,762 RGD:8554872
G Jrk Jrk helix-turn-helix protein JBrowse link 7 115,941,788 115,946,471 RGD:11554173
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:8554872
G Mapk10 mitogen activated protein kinase 10 JBrowse link 14 8,079,955 8,371,508 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Pgk1 phosphoglycerate kinase 1 JBrowse link X 77,263,399 77,279,373 RGD:8554872
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
G Ryr3 ryanodine receptor 3 JBrowse link 3 104,117,307 104,665,151 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
RGD:11554173
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:8554872
G Slc26a1 solute carrier family 26 member 1 JBrowse link 14 2,050,805 2,056,091 RGD:8554872
G Slc35a2 solute carrier family 35 member A2 JBrowse link X 15,453,184 15,461,990 RGD:8554872
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link 20 5,535,434 5,564,657 RGD:8554872
G Trit1 tRNA isopentenyltransferase 1 JBrowse link 5 140,711,943 140,756,893 RGD:8554872
G Ugdh UDP-glucose 6-dehydrogenase JBrowse link 14 44,479,614 44,502,845 RGD:8554872
G Usp19 ubiquitin specific peptidase 19 JBrowse link 8 117,280,690 117,291,729 RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:8554872
Generalized Epilepsy and Paroxysmal Dyskinesia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:7240710
RGD:8554872
generalized epilepsy with febrile seizures plus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:8554872
RGD:13592920
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:1358571
RGD:8554872
RGD:13592920
G Scn1b sodium voltage-gated channel beta subunit 1 JBrowse link 1 89,550,738 89,560,469 RGD:8554872
RGD:13592920
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
RGD:13592920
Generalized Epilepsy with Febrile Seizures Plus, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Scn1b sodium voltage-gated channel beta subunit 1 JBrowse link 1 89,550,738 89,560,469 RGD:7240710
RGD:8554872
Generalized Epilepsy with Febrile Seizures Plus, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:727292
RGD:8554872
RGD:7240710
Generalized Epilepsy with Febrile Seizures Plus, Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:7240710
RGD:8554872
Generalized Epilepsy with Febrile Seizures Plus, Type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrd gamma-aminobutyric acid type A receptor delta subunit JBrowse link 5 172,797,478 172,809,374 RGD:8554872
Generalized Epilepsy with Febrile Seizures Plus, Type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:7240710
RGD:8554872
Generalized Epilepsy with Febrile Seizures Plus, Type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stx1b syntaxin 1B JBrowse link 1 199,251,842 199,270,465 RGD:8554872
RGD:7240710
G Stx4 syntaxin 4 JBrowse link 1 199,287,384 199,295,606 RGD:8554872
G Zfp668 zinc finger protein 668 JBrowse link 1 199,310,935 199,321,231 RGD:8554872
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 JBrowse link 7 117,394,367 117,397,950 RGD:8554872
RGD:7240710
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C JBrowse link 13 79,886,832 79,889,305 RGD:8554872
RGD:7240710
G RGD1309106 similar to hypothetical protein JBrowse link 13 79,856,479 79,901,830 RGD:8554872
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gphn gephyrin JBrowse link 6 101,327,874 101,859,169 RGD:8554872
G Pigh phosphatidylinositol glycan anchor biosynthesis, class H JBrowse link 6 102,258,621 102,272,826 RGD:8554872
RGD:7240710
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigs phosphatidylinositol glycan anchor biosynthesis, class S JBrowse link 10 65,591,638 65,606,175 RGD:8554872
RGD:7240710
Glycosylphosphatidylinositol Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigm phosphatidylinositol glycan anchor biosynthesis, class M JBrowse link 13 90,759,260 90,762,957 RGD:7240710
RGD:8554872
Hyperglycinemia, Lactic Acidosis, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lias lipoic acid synthetase JBrowse link 14 44,507,217 44,524,287 RGD:7240710
RGD:8554872
G Rpl9 ribosomal protein L9 JBrowse link 14 44,524,419 44,527,613 RGD:8554872
G Ugdh UDP-glucose 6-dehydrogenase JBrowse link 14 44,479,614 44,502,845 RGD:8554872
hypermethioninemia due to adenosine kinase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adk adenosine kinase JBrowse link 15 3,033,535 3,435,888 RGD:7240710
RGD:8554872
RGD:11554173
Hypomagnesemia, Seizures, and Mental Retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 JBrowse link 1 266,530,421 266,651,292 RGD:8554872
Hypomagnesemia, Seizures, and Mental Retardation 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 JBrowse link 1 266,530,421 266,651,292 RGD:7240710
Hypomagnesemia, Seizures, and Mental Retardation 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 2 204,003,742 204,032,023 RGD:8554872
RGD:7240710
hypoparathyroidism-retardation-dysmorphism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 JBrowse link 17 54,027,859 54,070,399 RGD:8554872
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:7240710
RGD:8554872
RGD:11554173
idiopathic generalized epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd65 ankyrin repeat domain 65 JBrowse link 5 173,237,642 173,239,899 RGD:8554872
G Atad3a ATPase family, AAA domain containing 3A JBrowse link 5 173,189,590 173,209,809 RGD:8554872
G Aurkaip1 aurora kinase A interacting protein 1 JBrowse link 5 173,274,433 173,276,170 RGD:8554872
G Cacna1h calcium voltage-gated channel subunit alpha1 H JBrowse link 10 14,730,932 14,789,201 RGD:8554872
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 8 116,154,661 116,285,643 RGD:13592920
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 JBrowse link 3 37,950,846 38,211,478 RGD:7240710
RGD:8554872
G Casr calcium-sensing receptor JBrowse link 11 67,188,204 67,262,261 RGD:7240710
RGD:8554872
G Ccnl2 cyclin L2 JBrowse link 5 173,256,301 173,268,279 RGD:8554872
G Cdk11b cyclin-dependent kinase 11B JBrowse link 5 173,051,900 173,078,049 RGD:8554872
G Cfap74 cilia and flagella associated protein 74 JBrowse link 5 172,817,221 172,884,996 RGD:8554872
G Clcn2 chloride voltage-gated channel 2 JBrowse link 11 82,862,664 82,876,165 RGD:7240710
RGD:8554872
G Cptp ceramide-1-phosphate transfer protein JBrowse link 5 173,314,219 173,318,384 RGD:8554872
G Dnm1 dynamin 1 JBrowse link 3 11,338,081 11,382,043 RGD:13592920
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:8554872
G Fndc10 fibronectin type III domain containing 10 JBrowse link 5 173,139,345 173,141,564 RGD:8554872
G Gabra1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 10 27,310,718 27,371,802 RGD:8554872
RGD:13592920
G Gabrd gamma-aminobutyric acid type A receptor delta subunit JBrowse link 5 172,797,478 172,809,374 RGD:7240710
RGD:8554872
G Gnb1 G protein subunit beta 1 JBrowse link 5 172,914,025 172,981,403 RGD:8554872
G Ick intestinal cell kinase JBrowse link 8 85,413,998 85,473,374 RGD:8554872
G Ints11 integrator complex subunit 11 JBrowse link 5 173,318,435 173,336,930 RGD:8554872
G Mib2 mindbomb E3 ubiquitin protein ligase 2 JBrowse link 5 173,082,943 173,099,353 RGD:8554872
G Mmp23 matrix metallopeptidase 23 JBrowse link 5 173,078,811 173,082,834 RGD:8554872
G Mrpl20 mitochondrial ribosomal protein L20 JBrowse link 5 173,248,245 173,252,775 RGD:8554872
G Mxra8 matrix remodeling associated 8 JBrowse link 5 173,288,200 173,292,926 RGD:8554872
G Nadk NAD kinase JBrowse link 5 172,984,930 173,015,505 RGD:8554872
G Rbfox1 RNA binding fox-1 homolog 1 JBrowse link 10 8,312,961 10,437,778 RGD:8554872
G Rbfox3 RNA binding fox-1 homolog 3 JBrowse link 10 107,517,916 107,850,764 RGD:8554872
G Slc12a5 solute carrier family 12 member 5 JBrowse link 3 161,433,303 161,465,078 RGD:8554872
RGD:7240710
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:8554872
RGD:13592920
G Slc35e2b solute carrier family 35, member E2B JBrowse link 5 173,024,335 173,050,228 RGD:8554872
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase JBrowse link 5 173,152,964 173,182,720 RGD:8554872
G Tas1r3 taste 1 receptor member 3 JBrowse link 5 173,307,325 173,312,950 RGD:8554872
G Tmem240 transmembrane protein 240 JBrowse link 5 173,182,815 173,189,683 RGD:8554872
G Tmem52 transmembrane protein 52 JBrowse link 5 172,887,587 172,889,349 RGD:8554872
G Tmem88b transmembrane protein 88B JBrowse link 5 173,230,364 173,233,188 RGD:8554872
G Vwa1 von Willebrand factor A domain containing 1 JBrowse link 5 173,216,737 173,221,923 RGD:8554872
Infantile or Early Childhood Epileptic Encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm1 dynamin 1 JBrowse link 3 11,338,081 11,382,043 RGD:11557016
G Ppp3ca protein phosphatase 3 catalytic subunit alpha JBrowse link 2 241,909,332 242,186,861 RGD:8554872
infantile or early childhood epileptic encephalopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp3ca protein phosphatase 3 catalytic subunit alpha JBrowse link 2 241,909,332 242,186,861 RGD:8554872
RGD:7240710
infantile or early childhood epileptic encephalopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrb2 gamma-aminobutyric acid type A receptor beta 2 subunit JBrowse link 10 27,973,694 28,193,072 RGD:8554872
RGD:7240710
Infantile or Early Childhood Epileptic Encephalopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp6v1a ATPase H+ transporting V1 subunit A JBrowse link 11 61,531,386 61,584,634 RGD:8554872
RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otud6b OTU domain containing 6B JBrowse link 5 28,333,019 28,350,093 RGD:8554872
RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pak1 p21 (RAC1) activated kinase 1 JBrowse link 1 162,768,156 162,883,356 RGD:8554872
RGD:7240710
Jankovic Rivera Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asah1 N-acylsphingosine amidohydrolase 1 JBrowse link 16 53,998,604 54,030,006 RGD:7240710
RGD:8554872
juvenile absence epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efhc1 EF-hand domain containing 1 JBrowse link 9 27,068,505 27,107,713 RGD:8554872
RGD:13592920
juvenile myoclonic epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brd2 bromodomain containing 2 JBrowse link 20 3,910,555 3,921,074 RGD:1358444
G Cacna1g calcium voltage-gated channel subunit alpha1 G JBrowse link 10 82,129,071 82,197,828 RGD:8554872
G Cacnb4 calcium voltage-gated channel auxiliary subunit beta 4 JBrowse link 3 37,950,846 38,211,478 RGD:11554173
RGD:8554872
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 3 60,445,657 60,460,724 RGD:8554872
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 1 123,897,341 124,039,263 RGD:8554872
G Efhc1 EF-hand domain containing 1 JBrowse link 9 27,068,505 27,107,713 RGD:7240710
RGD:8554872
G Gabra1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 10 27,310,718 27,371,802 RGD:7240710
RGD:8554872
G Jrk Jrk helix-turn-helix protein JBrowse link 7 115,941,788 115,946,471 RGD:11554173
Kohlschutter Tonz Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rogdi rogdi atypical leucine zipper JBrowse link 10 10,761,477 10,766,096 RGD:7240710
RGD:8554872
Lafora disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epm2a EPM2A glucan phosphatase, laforin JBrowse link 1 5,448,958 5,571,512 RGD:7240710
RGD:8554872
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 JBrowse link 17 18,059,382 18,060,572 RGD:7240710
RGD:8554872
Landau-Kleffner syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:8554872
RGD:11554173
Lennox-Gastaut syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dgkd diacylglycerol kinase, delta JBrowse link 9 94,980,328 95,071,531 RGD:13592920
G Gatm glycine amidinotransferase JBrowse link 3 114,711,570 114,728,155 RGD:8554872
G Mapk10 mitogen activated protein kinase 10 JBrowse link 14 8,079,955 8,371,508 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:8554872
MEHMO syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif2s3 eukaryotic translation initiation factor 2 subunit gamma JBrowse link X 63,268,106 63,291,125 RGD:8554872
RGD:7240710
Mental Retardation, Autosomal Recessive 53 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G JBrowse link 14 2,410,339 2,438,630 RGD:8554872
RGD:7240710
MERRF Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:11554173
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Mt-nd5 mitochondrially encoded NADH dehydrogenase 5 JBrowse link MT 11,736 13,565 RGD:8554872
Microcephaly, Epilepsy, and Diabetes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ier3ip1 immediate early response 3 interacting protein 1 JBrowse link 4 132,140,802 132,152,059 RGD:7240710
RGD:8554872
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr4 WD repeat domain 4 JBrowse link 20 10,240,571 10,264,818 RGD:7240710
microcephaly, seizures, and developmental delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:7240710
RGD:8554872
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rttn rotatin JBrowse link 18 86,071,884 86,247,486 RGD:7240710
RGD:8554872
multiple congenital anomalies-hypotonia-seizures syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pign phosphatidylinositol glycan anchor biosynthesis, class N JBrowse link 13 25,510,593 25,662,943 RGD:8554872
multiple congenital anomalies-hypotonia-seizures syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pign phosphatidylinositol glycan anchor biosynthesis, class N JBrowse link 13 25,510,593 25,662,943 RGD:7240710
RGD:8554872
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piga phosphatidylinositol glycan anchor biosynthesis, class A JBrowse link X 31,786,823 31,799,751 RGD:7240710
RGD:8554872
multiple congenital anomalies-hypotonia-seizures syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T JBrowse link 3 160,945,556 160,954,738 RGD:7240710
RGD:8554872
Myoclonic Epilepsies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit JBrowse link 15 42,808,897 42,825,179 RGD:8554872
G Dld dihydrolipoamide dehydrogenase JBrowse link 6 50,597,677 50,618,694 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Mt-nd6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 13,543 14,061 RGD:6482231
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:11554173
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Rapgef2 Rap guanine nucleotide exchange factor 2 JBrowse link 2 177,836,191 178,057,378 RGD:11554173
G Samd12 sterile alpha motif domain containing 12 JBrowse link 7 92,995,599 93,286,757 RGD:11554173
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:11554173
RGD:8554872
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
RGD:11554173
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:11554173
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:8554872
G Tnrc6a trinucleotide repeat containing adaptor 6A JBrowse link 1 192,991,584