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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;   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
 related_synonym: Sudden Unexpected Death in Epilepsy
 primary_id: MESH:D004827
 alt_id: MESH:D000080485;   OMIA:001596;   RDO:0000292
 xref: ICD10CM:G40.9;   ICD10CM:G40.909;   ICD9CM:345.9;   NCI:C3020;   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 ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 JBrowse link 9 93,049,955 93,146,469 RGD:9068941
G ACHE acetylcholinesterase (Cartwright blood group) JBrowse link 3 8,732,451 8,738,274 RGD:9068941
G ADAP2 ArfGAP with dual PH domains 2 JBrowse link 12 42,817,683 42,864,594 RGD:9068941
G ADNP activity dependent neuroprotector homeobox JBrowse link 17 52,316,388 52,350,732 RGD:9068941
G ADRA2A adrenoceptor alpha 2A JBrowse link 14 121,469,572 121,470,924 RGD:9068941
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 RGD:9068941
G AKT1 AKT serine/threonine kinase 1 RGD:9068941
G ALB albumin JBrowse link 8 69,643,427 69,663,152 RGD:9068941
G ALDH5A1 aldehyde dehydrogenase 5 family member A1 JBrowse link 7 19,351,485 19,375,515 RGD:9068941
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 JBrowse link 2 129,663,226 129,709,728 RGD:9068941
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 91,644,586 91,708,695 RGD:9068941
G AMBRA1 autophagy and beclin 1 regulator 1 JBrowse link 2 15,935,354 16,119,082 RGD:9068941
G AMPD2 adenosine monophosphate deaminase 2 JBrowse link 4 110,493,490 110,505,123 RGD:9068941
G ANKRD11 ankyrin repeat domain 11 JBrowse link 6 455,856 612,878 RGD:9068941
G ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 JBrowse link 17 50,631,844 50,732,253 RGD:9068941
G ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 JBrowse link X 50,159,912 50,578,020 RGD:9068941
G ARID1B AT-rich interaction domain 1B JBrowse link 1 9,791,627 10,227,381 RGD:9068941
G ARR3 arrestin 3 JBrowse link X 56,295,107 56,310,507 RGD:9068941
G ASXL1 ASXL transcriptional regulator 1 JBrowse link 17 35,985,978 36,067,122 RGD:9068941
G ASXL3 ASXL transcriptional regulator 3 JBrowse link 6 117,334,177 117,518,589 RGD:9068941
G ATAD5 ATPase family AAA domain containing 5 JBrowse link 12 42,874,705 42,920,438 RGD:9068941
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 4 90,341,316 90,371,040 RGD:9068941
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 6 49,905,851 49,927,437 RGD:9068941
G AUTS2 activator of transcription and developmental regulator AUTS2 JBrowse link 3 13,565,439 14,794,365 RGD:9068941
G BCAP31 B cell receptor associated protein 31 JBrowse link X 124,456,999 124,484,923 RGD:9068941
G BCHE butyrylcholinesterase JBrowse link 13 104,946,732 105,007,568 RGD:9068941
G BCS1L BCS1-like (S. cerevisiae) JBrowse link 15 120,707,770 120,711,794 RGD:9068941
G BDKRB1 bradykinin receptor B1 JBrowse link 7 117,491,350 117,492,410 RGD:9068941
G BDKRB2 bradykinin receptor B2 JBrowse link 7 117,438,622 117,472,005 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 2 32,623,668 32,679,293 RGD:9068941
G BECN1 beclin 1 JBrowse link 12 20,041,914 20,054,249 RGD:9068941
G BET1 Bet1 golgi vesicular membrane trafficking protein JBrowse link 9 73,782,157 73,792,653 RGD:9068941
G BICD2 BICD cargo adaptor 2 JBrowse link 3 42,393,270 42,456,821 RGD:9068941
G BMP4 bone morphogenetic protein 4 JBrowse link 1 183,415,989 183,422,888 RGD:9068941
G BMPR2 bone morphogenetic protein receptor type 2 JBrowse link 15 105,971,577 106,132,496 RGD:9068941
G BORCS5 BLOC-1 related complex subunit 5 JBrowse link 5 59,969,806 60,072,976 RGD:9068941
G BSN bassoon presynaptic cytomatrix protein JBrowse link 13 32,106,967 32,203,461 RGD:9068941
G C1QA complement C1q A chain JBrowse link 6 80,586,259 80,589,213 RGD:9068941
G C5H12orf57 chromosome 5 C12orf57 homolog JBrowse link 5 63,779,510 63,781,307 RGD:9068941
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 2 65,491,784 65,871,068 RGD:9068941
G CACNA1C calcium voltage-gated channel subunit alpha1 C JBrowse link 5 69,016,954 69,448,428 RGD:9068941
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 JBrowse link 9 97,781,057 98,265,925 RGD:9068941
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 13 32,845,110 32,988,851 RGD:9068941
G CAMK2D calcium/calmodulin dependent protein kinase II delta JBrowse link 8 108,916,019 109,221,317 RGD:9068941
G CAPN1 calpain 1 JBrowse link 2 6,997,513 7,024,410 RGD:9068941
G CD36 CD36 molecule JBrowse link 9 99,685,748 99,782,296 RGD:9068941
G CDK11B cyclin-dependent kinase 11B JBrowse link 6 63,804,914 63,819,960 RGD:9068941
G CDK20 cyclin dependent kinase 20 JBrowse link 14 15,582 24,102 RGD:9068941
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 14,858,826 15,096,969 RGD:9068941
G CDYL chromodomain Y like JBrowse link 7 2,845,903 2,967,537 RGD:9068941
G CEP128 centrosomal protein 128 JBrowse link 7 103,345,978 103,760,323 RGD:9068941
G CERT1 ceramide transporter 1 JBrowse link 2 84,410,425 84,538,018 RGD:9068941
G CHD2 chromodomain helicase DNA binding protein 2 JBrowse link 7 85,980,759 86,107,886 RGD:9068941
G CHKB choline kinase beta JBrowse link 5 151,638 155,176 RGD:9068941
G CHRM1 cholinergic receptor muscarinic 1 JBrowse link 2 8,858,765 8,872,042 RGD:9068941
G CHRM2 cholinergic receptor muscarinic 2 JBrowse link 18 12,455,139 12,600,314 RGD:9068941
G CHRM4 cholinergic receptor muscarinic 4 JBrowse link 2 16,119,794 16,131,080 RGD:9068941
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 15 80,673,072 80,692,256 RGD:9068941
G CHRNA2 cholinergic receptor nicotinic alpha 2 subunit JBrowse link 14 11,193,732 11,204,334 RGD:9068941
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 17 62,424,672 62,436,646 RGD:9068941
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit JBrowse link 4 95,196,992 95,211,084 RGD:9068941
G CINP cyclin dependent kinase 2 interacting protein RGD:9068941
G CLCN2 chloride voltage-gated channel 2 JBrowse link 13 122,234,731 122,249,889 RGD:9068941
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin JBrowse link 3 18,433,564 18,450,296 RGD:9068941
G CLN5 CLN5 intracellular trafficking protein JBrowse link 11 49,105,822 49,128,425 RGD:9068941
G CLN6 CLN6 transmembrane ER protein JBrowse link 1 166,107,895 166,126,054 RGD:9068941
G CLN8 CLN8 transmembrane ER and ERGIC protein JBrowse link 15 33,282,524 33,325,598 RGD:9068941
G CNTNAP2 contactin associated protein 2 JBrowse link 9 109,740,510 111,781,144 RGD:9068941
G COBLL1 cordon-bleu WH2 repeat protein like 1 JBrowse link 15 71,343,749 71,498,495 RGD:9068941
G COL3A1 collagen type III alpha 1 chain JBrowse link 15 93,556,914 93,595,678 RGD:9068941
G COL9A3 collagen type IX alpha 3 chain JBrowse link 17 62,074,108 62,094,228 RGD:9068941
G COPRS coordinator of PRMT5 and differentiation stimulator JBrowse link 12 43,091,181 43,097,998 RGD:9068941
G COX3 cytochrome c oxidase subunit III JBrowse link MT 9,800 10,583 RGD:9068941
G CP ceruloplasmin JBrowse link 13 89,396,713 89,463,540 RGD:9068941
G CPA6 carboxypeptidase A6 JBrowse link 4 67,157,341 67,411,582 RGD:9068941
G CREB3L1 cAMP responsive element binding protein 3 like 1 JBrowse link 2 16,186,206 16,220,948 RGD:9068941
G CRH corticotropin releasing hormone JBrowse link 4 68,481,696 68,486,122 RGD:9068941
G CRLF3 cytokine receptor like factor 3 JBrowse link 12 42,933,417 42,991,395 RGD:9068941
G CSRNP3 cysteine and serine rich nuclear protein 3 JBrowse link 15 72,040,854 72,242,269 RGD:9068941
G CSTB cystatin B JBrowse link 13 206,706,060 206,710,598 RGD:9068941
G CTSD cathepsin D JBrowse link 2 1,188,548 1,197,642 RGD:9068941
G CTSF cathepsin F JBrowse link 2 5,855,083 5,860,258 RGD:9068941
G CUL4B cullin 4B JBrowse link X 98,668,945 98,730,582 RGD:9068941
G CYTB cytochrome b JBrowse link MT 15,342 16,481 RGD:9068941
G DDX3X DEAD-box helicase 3 X-linked JBrowse link X 36,988,031 37,005,496 RGD:9068941
G DDX54 DEAD-box helicase 54 JBrowse link 14 38,650,660 38,668,266 RGD:9068941
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit JBrowse link 14 48,421,788 48,523,530 RGD:9068941
G DGKZ diacylglycerol kinase zeta JBrowse link 2 16,134,046 16,176,043 RGD:9068941
G DHX16 DEAH-box helicase 16 JBrowse link 7 23,190,645 23,208,071 RGD:9068941
G DHX30 DExH-box helicase 30 JBrowse link 13 30,602,008 30,632,506 RGD:9068941
G DHX34 DExH-box helicase 34 JBrowse link 6 53,131,193 53,161,369 RGD:9068941
G DHX37 DEAH-box helicase 37 JBrowse link 14 28,206,152 28,242,436 RGD:9068941
G DIPK1B divergent protein kinase domain 1B RGD:9068941
G DLG3 discs large MAGUK scaffold protein 3 JBrowse link X 56,471,941 56,531,481 RGD:9068941
G DMBX1 diencephalon/mesencephalon homeobox 1 JBrowse link 6 164,967,890 164,978,541 RGD:9068941
G DMTF1 cyclin D binding myb like transcription factor 1 JBrowse link 9 93,416,451 93,463,129 RGD:9068941
G DNAH7 dynein axonemal heavy chain 7 JBrowse link 15 99,722,278 99,987,348 RGD:9068941
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 JBrowse link 17 62,754,630 62,780,470 RGD:9068941
G DNM1 dynamin 1 JBrowse link 1 268,653,045 268,702,233 RGD:9068941
G DPYD dihydropyrimidine dehydrogenase JBrowse link 4 119,931,471 120,712,461 RGD:9068941
G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 RGD:9068941
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A JBrowse link 13 201,008,506 201,159,946 RGD:9068941
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 3 22,654,351 22,684,246 RGD:9068941
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 17 62,517,811 62,526,379 RGD:9068941
G EEF1B2 eukaryotic translation elongation factor 1 beta 2 JBrowse link 15 109,451,901 109,455,529 RGD:9068941
G EFTUD2 elongation factor Tu GTP binding domain containing 2 JBrowse link 12 18,474,367 18,514,993 RGD:9068941
G EGFL7 EGF like domain multiple 7 RGD:9068941
G EGR1 early growth response 1 JBrowse link 2 140,440,829 140,445,302 RGD:9068941
G EPM2A EPM2A glucan phosphatase, laforin JBrowse link 1 19,806,363 19,893,350 RGD:9068941
G ERG ETS transcription factor ERG JBrowse link 13 201,999,237 202,302,572 RGD:9068941
G ERN1 endoplasmic reticulum to nucleus signaling 1 JBrowse link 12 14,881,913 14,963,290 RGD:9068941
G EVI2A ecotropic viral integration site 2A JBrowse link 12 43,543,020 43,548,586 RGD:9068941
G EVI2B ecotropic viral integration site 2B JBrowse link 12 43,553,891 43,561,759 RGD:9068941
G FANCI FA complementation group I JBrowse link 7 54,811,024 54,889,992 RGD:9068941
G FBXL3 F-box and leucine rich repeat protein 3 JBrowse link 11 49,131,663 49,151,380 RGD:9068941
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 8 879,151 894,968 RGD:9068941
G FLNA filamin A JBrowse link X 124,889,934 124,915,000 RGD:9068941
G FOS Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 7 98,449,508 98,451,971 RGD:9068941
G FOSB FosB proto-oncogene, AP-1 transcription factor subunit JBrowse link 6 51,836,780 51,844,531 RGD:9068941
G FOXG1 forkhead box G1 JBrowse link 7 70,656,603 70,660,236 RGD:9068941
G FOXP1 forkhead box P1 JBrowse link 13 52,346,844 52,974,358 RGD:9068941
G FOXRED1 FAD dependent oxidoreductase domain containing 1 JBrowse link 9 53,365,260 53,372,955 RGD:9068941
G FRRS1L ferric chelate reductase 1 like JBrowse link 1 250,187,568 250,220,716 RGD:9068941
G GABRA1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 16 61,656,583 61,723,428 RGD:9068941
G GABRB2 gamma-aminobutyric acid type A receptor beta2 subunit JBrowse link 16 61,984,923 62,240,902 RGD:9068941
G GABRB3 gamma-aminobutyric acid type A receptor beta3 subunit JBrowse link 1 140,566,443 140,906,516 RGD:9068941
G GABRG2 gamma-aminobutyric acid type A receptor gamma2 subunit JBrowse link 16 61,441,622 61,543,375 RGD:9068941
G GAD2 glutamate decarboxylase 2 JBrowse link 10 49,316,682 49,391,013 RGD:9068941
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 JBrowse link 15 72,276,502 72,343,524 RGD:9068941
G GAPDH glyceraldehyde-3-phosphate dehydrogenase JBrowse link 5 64,129,678 64,135,194 RGD:9068941
G GATM glycine amidinotransferase JBrowse link 1 126,361,968 126,378,705 RGD:9068941
G GDNF glial cell derived neurotrophic factor JBrowse link 16 22,936,602 22,965,929 RGD:9068941
G GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 JBrowse link X 56,449,430 56,460,399 RGD:9068941
G GFAP glial fibrillary acidic protein JBrowse link 12 18,456,268 18,466,594 RGD:9068941
G GHR growth hormone receptor JBrowse link 16 27,126,300 27,422,618 RGD:9068941
G GK glycerol kinase JBrowse link X 26,470,422 26,558,892 RGD:9068941
G GLI2 GLI family zinc finger 2 JBrowse link 15 30,312,528 30,580,272 RGD:9068941
G GNAI1 G protein subunit alpha i1 JBrowse link 9 100,187,878 100,272,274 RGD:9068941
G GNAO1 G protein subunit alpha o1 JBrowse link 6 29,416,574 29,592,874 RGD:9068941
G GNAT3 G protein subunit alpha transducin 3 JBrowse link 9 99,848,406 99,910,236 RGD:9068941
G GNB1 G protein subunit beta 1 JBrowse link 6 63,867,155 63,957,514 RGD:9068941
G GOSR2 golgi SNAP receptor complex member 2 JBrowse link 12 17,768,082 17,799,313 RGD:9068941
G GPLD1 glycosylphosphatidylinositol specific phospholipase D1 JBrowse link 7 19,289,385 19,355,606 RGD:9068941
G GPX1 glutathione peroxidase 1 JBrowse link 13 31,916,269 31,917,337 RGD:9068941
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 JBrowse link 16 69,332,786 69,654,366 RGD:9068941
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 3 32,749,329 33,149,350 RGD:9068941
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 5 58,477,862 58,948,735 RGD:9068941
G GRM1 glutamate metabotropic receptor 1 JBrowse link 1 19,183,221 19,572,853 RGD:9068941
G GRM3 glutamate metabotropic receptor 3 JBrowse link 9 93,731,210 93,974,718 RGD:9068941
G GRM7 glutamate metabotropic receptor 7 JBrowse link 13 63,318,002 64,203,982 RGD:9068941
G GRM8 glutamate metabotropic receptor 8 JBrowse link 18 20,945,049 21,756,952 RGD:9068941
G GRN granulin precursor JBrowse link 12 18,893,772 18,900,444 RGD:9068941
G GSPT2 G1 to S phase transition 2 JBrowse link X 45,193,336 45,195,939 RGD:9068941
G HARBI1 harbinger transposase derived 1 JBrowse link 2 15,916,403 15,927,148 RGD:9068941
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 JBrowse link 16 29,439,294 29,808,855 RGD:9068941
G HES1 hes family bHLH transcription factor 1 JBrowse link 13 131,135,970 131,137,865 RGD:9068941
G HGF hepatocyte growth factor JBrowse link 9 98,437,771 98,513,573 RGD:9068941
G HIVEP1 HIVEP zinc finger 1 JBrowse link 7 8,515,856 8,661,686 RGD:9068941
G HLCS holocarboxylase synthetase JBrowse link 13 200,406,395 200,618,967 RGD:9068941
G HNRNPU heterogeneous nuclear ribonucleoprotein U JBrowse link 10 17,475,266 17,497,060 RGD:9068941
G HTR7 5-hydroxytryptamine receptor 7 JBrowse link 14 102,443,312 102,548,894 RGD:9068941
G IL6 interleukin 6 JBrowse link 9 91,506,421 91,510,830 RGD:9068941
G ILK integrin linked kinase JBrowse link 9 3,145,647 3,152,097 RGD:9068941
G INO80 INO80 complex ATPase subunit JBrowse link 1 130,201,705 130,341,627 RGD:9068941
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 JBrowse link X 46,011,386 46,094,978 RGD:9068941
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 JBrowse link 13 61,068,131 61,398,918 RGD:9068941
G KAT14 lysine acetyltransferase 14 JBrowse link 17 26,484,957 26,521,532 RGD:9068941
G KAT6B lysine acetyltransferase 6B JBrowse link 14 77,390,790 77,597,674 RGD:9068941
G KCNA1 potassium voltage-gated channel subfamily A member 1 JBrowse link 5 65,556,837 65,565,880 RGD:9068941
G KCNA2 potassium voltage-gated channel subfamily A member 2 JBrowse link 4 109,534,923 109,570,172 RGD:9068941
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 JBrowse link 6 66,928,374 67,016,846 RGD:9068941
G KCNB1 potassium voltage-gated channel subfamily B member 1 JBrowse link 17 51,032,163 51,152,566 RGD:9068941
G KCNC1 potassium voltage-gated channel subfamily C member 1 JBrowse link 2 41,362,208 41,407,935 RGD:9068941
G KCNC2 potassium voltage-gated channel subfamily C member 2 JBrowse link 5 38,326,408 38,535,826 RGD:9068941
G KCNH1 potassium voltage-gated channel subfamily H member 1 JBrowse link 9 131,960,566 132,336,029 RGD:9068941
G KCNJ15 potassium inwardly rectifying channel subfamily J member 15 JBrowse link 13 201,894,036 201,941,449 RGD:9068941
G KCNJ6 potassium inwardly rectifying channel subfamily J member 6 JBrowse link 13 201,231,803 201,525,943 RGD:9068941
G KCNK2 potassium two pore domain channel subfamily K member 2 JBrowse link 9 128,429,232 128,659,662 RGD:9068941
G KCNK4 potassium two pore domain channel subfamily K member 4 JBrowse link 2 7,817,062 7,824,390 RGD:9068941
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 17 62,459,277 62,506,403 RGD:9068941
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 4 8,669,969 8,978,656 RGD:9068941
G KCNT1 potassium sodium-activated channel subfamily T member 1 RGD:9068941
G KCNT2 potassium sodium-activated channel subfamily T member 2 RGD:9068941
G KCTD3 potassium channel tetramerization domain containing 3 JBrowse link 10 5,754,180 5,815,126 RGD:9068941
G KCTD7 potassium channel tetramerization domain containing 7 JBrowse link 3 16,382,333 16,393,861 RGD:9068941
G KIAA1324L KIAA1324 like JBrowse link 9 93,540,846 93,724,739 RGD:9068941
G KIF4A kinesin family member 4A JBrowse link X 56,319,453 56,447,560 RGD:9068941
G KIF5A kinesin family member 5A JBrowse link 5 22,813,617 22,851,976 RGD:9068941
G KIF5B kinesin family member 5B JBrowse link 10 42,637,105 42,693,551 RGD:9068941
G KMT2D lysine methyltransferase 2D JBrowse link 5 15,049,827 15,091,622 RGD:9068941
G KMT2E lysine methyltransferase 2E JBrowse link 9 104,876,301 105,007,161 RGD:9068941
G KMT5B lysine methyltransferase 5B JBrowse link 2 4,710,510 4,768,237 RGD:9068941
G L2HGDH L-2-hydroxyglutarate dehydrogenase JBrowse link 1 180,020,862 180,069,168 RGD:9068941
G LGI1 leucine rich glioma inactivated 1 JBrowse link 14 105,219,901 105,251,423 RGD:9068941
G LOC100515171 sodium channel protein type 2 subunit alpha JBrowse link 15 71,864,753 71,999,219 RGD:9068941
G LOC100523747 phospholipid-transporting ATPase IB JBrowse link 11 3,277,395 3,793,881 RGD:9068941
G LOC110258578 interleukin-1 beta-like RGD:9068941
G LOC110259512 protocadherin beta-4-like JBrowse link 2 142,816,658 142,822,048 RGD:9068941
G MAPT microtubule associated protein tau JBrowse link 12 17,098,259 17,211,483 RGD:9068941
G MATN4 matrilin 4 JBrowse link 17 47,617,559 47,631,195 RGD:9068941
G MBD5 methyl-CpG binding domain protein 5 JBrowse link 15 3,649,859 4,096,459 RGD:9068941
G MCRIP2 MAPK regulated corepressor interacting protein 2 JBrowse link 3 41,123,037 41,133,463 RGD:9068941
G MDK midkine JBrowse link 2 16,130,787 16,133,791 RGD:9068941
G MECP2 methyl-CpG binding protein 2 JBrowse link X 124,735,523 124,789,063 RGD:9068941
G MEF2C myocyte enhancer factor 2C JBrowse link 2 96,122,407 96,296,927 RGD:9068941
G METTL26 methyltransferase like 26 JBrowse link 3 41,134,246 41,135,880 RGD:9068941
G MFSD8 major facilitator superfamily domain containing 8 JBrowse link 8 96,925,063 96,972,390 RGD:9068941
G MIF macrophage migration inhibitory factor JBrowse link 14 49,840,303 49,841,063 RGD:9068941
G MIR126 microRNA mir-126 RGD:9068941
G MIR193A microRNA mir-193a JBrowse link 12 43,336,969 43,337,048 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 17 48,179,690 48,186,782 RGD:9068941
G MPP4 membrane palmitoylated protein 4 JBrowse link 15 105,277,295 105,319,936 RGD:9068941
G MRGBP MRG domain binding protein JBrowse link 17 62,058,401 62,062,962 RGD:9068941
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 14 54,546,978 54,652,780 RGD:9068941
G MYO5A myosin VA JBrowse link 1 119,165,751 119,398,591 RGD:9068941
G MYOCD myocardin JBrowse link 12 56,931,628 57,029,258 RGD:9068941
G NALCN sodium leak channel, non-selective JBrowse link 11 69,710,355 70,023,020 RGD:9068941
G NBEA neurobeachin JBrowse link 11 11,085,081 11,722,859 RGD:9068941
G NCAPH2 non-SMC condensin II complex subunit H2 JBrowse link 5 222,784 233,491 RGD:9068941
G ND2 NADH dehydrogenase subunit 2 JBrowse link MT 5,087 6,128 RGD:9068941
G ND4 NADH dehydrogenase subunit 4 JBrowse link MT 11,359 12,736 RGD:9068941
G NEXMIF neurite extension and migration factor JBrowse link X 59,967,712 60,013,938 RGD:9068941
G NF1 neurofibromin 1 JBrowse link 12 43,487,098 43,754,205 RGD:9068941
G NF2 neurofibromin 2 JBrowse link 14 46,653,869 46,726,421 RGD:9068941
G NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 JBrowse link 7 13,816,243 13,817,644 RGD:9068941
G NOTCH1 notch receptor 1 RGD:9068941
G NPC2 NPC intracellular cholesterol transporter 2 JBrowse link 7 97,730,532 97,740,087 RGD:9068941
G NPY neuropeptide Y JBrowse link 18 47,985,796 47,993,726 RGD:9068941
G NPY2R neuropeptide Y receptor Y2 JBrowse link 8 74,039,959 74,048,398 RGD:9068941
G NR1I2 nuclear receptor subfamily 1 group I member 2 JBrowse link 13 140,373,571 140,406,129 RGD:9068941
G NR4A2 nuclear receptor subfamily 4 group A member 2 JBrowse link 15 63,487,051 63,506,249 RGD:9068941
G NRXN2 neurexin 2 JBrowse link 2 7,454,771 7,554,180 RGD:9068941
G NSDHL NAD(P) dependent steroid dehydrogenase-like JBrowse link X 123,906,130 123,921,935 RGD:9068941
G NTRK2 neurotrophic receptor tyrosine kinase 2 JBrowse link 10 30,030,050 30,429,938 RGD:9068941
G NTSR1 neurotensin receptor 1 JBrowse link 17 61,989,601 62,038,299 RGD:9068941
G OGFR opioid growth factor receptor JBrowse link 17 62,065,483 62,072,950 RGD:9068941
G OMG oligodendrocyte myelin glycoprotein JBrowse link 12 43,568,420 43,572,566 RGD:9068941
G OPHN1 oligophrenin 1 JBrowse link X 54,056,504 54,617,045 RGD:9068941
G OPRD1 opioid receptor delta 1 JBrowse link 6 85,775,576 85,827,170 RGD:9068941
G OPRM1 opioid receptor mu 1 JBrowse link 1 12,634,125 12,702,295 RGD:9068941
G OTUD6B OTU deubiquitinase 6B JBrowse link 4 45,776,776 45,793,270 RGD:9068941
G P2RX2 purinergic receptor P2X 2 JBrowse link 14 22,854,828 22,858,574 RGD:9068941
G P2RX4 purinergic receptor P2X 4 JBrowse link 14 31,368,542 31,387,960 RGD:9068941
G P2RY4 pyrimidinergic receptor P2Y4 JBrowse link X 56,284,736 56,285,833 RGD:9068941
G PCDH19 protocadherin 19 JBrowse link X 82,031,365 82,153,159 RGD:9068941
G PCLO piccolo presynaptic cytomatrix protein JBrowse link 9 97,114,503 97,513,081 RGD:9068941
G PDHA1 pyruvate dehydrogenase E1 alpha 1 subunit JBrowse link X 15,699,924 15,718,908 RGD:9068941
G PDHB pyruvate dehydrogenase E1 beta subunit JBrowse link 13 40,161,519 40,167,502 RGD:9068941
G PDZD11 PDZ domain containing 11 JBrowse link X 56,316,181 56,319,424 RGD:9068941
G PGF placental growth factor JBrowse link 7 98,149,510 98,162,784 RGD:9068941
G PHGDH phosphoglycerate dehydrogenase JBrowse link 4 101,445,977 101,478,144 RGD:9068941
G PIGG phosphatidylinositol glycan anchor biosynthesis class G JBrowse link 8 21,437 44,415 RGD:9068941
G PIGP phosphatidylinositol glycan anchor biosynthesis class P JBrowse link 13 200,686,716 200,695,537 RGD:9068941
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q JBrowse link 3 41,164,399 41,177,453 RGD:9068941
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha JBrowse link 13 117,193,935 117,282,151 RGD:9068941
G PKD1 polycystin 1, transient receptor potential channel interacting JBrowse link 3 39,849,579 39,899,455 RGD:9068941
G PLCB1 phospholipase C beta 1 JBrowse link 17 17,007,197 17,745,314 RGD:9068941
G PNPO pyridoxamine 5'-phosphate oxidase JBrowse link 12 24,192,848 24,201,419 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 7 54,889,150 54,907,167 RGD:9068941
G POMC proopiomelanocortin JBrowse link 3 113,661,712 113,668,558 RGD:9068941
G POMT1 protein O-mannosyltransferase 1 JBrowse link 1 271,432,196 271,448,584 RGD:9068941
G PPIA peptidylprolyl isomerase A JBrowse link 18 50,563,130 50,566,857 RGD:9068941
G PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 JBrowse link 4 66,712,412 66,996,258 RGD:9068941
G PRICKLE1 prickle planar cell polarity protein 1 JBrowse link 5 73,707,026 73,826,529 RGD:9068941
G PRICKLE2 prickle planar cell polarity protein 2 JBrowse link 13 45,620,372 45,968,295 RGD:9068941
G PRRT2 proline rich transmembrane protein 2 JBrowse link 3 18,048,614 18,052,481 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 14 99,929,590 100,021,619 RGD:9068941
G PTPN23 protein tyrosine phosphatase non-receptor type 23 JBrowse link 13 30,190,659 30,252,980 RGD:9068941
G PURA purine rich element binding protein A JBrowse link 2 141,877,775 141,899,259 RGD:9068941
G RAB11FIP4 RAB11 family interacting protein 4 JBrowse link 12 43,360,758 43,474,235 RGD:9068941
G RAB39B RAB39B, member RAS oncogene family JBrowse link X 125,520,764 125,528,253 RGD:9068941
G RAB40C RAB40C, member RAS oncogene family JBrowse link 3 41,140,557 41,160,101 RGD:9068941
G RELA RELA proto-oncogene, NF-kB subunit JBrowse link 2 6,594,869 6,602,684 RGD:9068941
G RGS4 regulator of G protein signaling 4 JBrowse link 4 87,383,336 87,390,478 RGD:9068941
G RIPPLY3 ripply transcriptional repressor 3 JBrowse link 13 200,642,802 200,652,401 RGD:9068941
G RNF135 ring finger protein 135 JBrowse link 12 42,793,755 42,808,937 RGD:9068941
G S100B S100 calcium binding protein B RGD:9068941
G SCARB2 scavenger receptor class B member 2 JBrowse link 8 71,838,395 71,910,461 RGD:9068941
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 15 72,529,866 72,696,715 RGD:9068941
G SCN1B sodium voltage-gated channel beta subunit 1 JBrowse link 6 44,597,461 44,607,488 RGD:9068941
G SCN3A sodium voltage-gated channel alpha subunit 3 JBrowse link 15 71,717,330 71,824,190 RGD:9068941
G SCN8A sodium voltage-gated channel alpha subunit 8 JBrowse link 5 16,977,468 17,173,831 RGD:9068941
G SCN9A sodium voltage-gated channel alpha subunit 9 JBrowse link 15 72,745,706 72,912,352 RGD:9068941
G SCO2 SCO cytochrome oxidase deficient homolog 2 (yeast) JBrowse link 5 220,801 222,678 RGD:9068941
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor RGD:9068941
G SEC24D SEC24 homolog D, COPII coat complex component JBrowse link 8 104,560,723 105,005,400 RGD:9068941
G SELENOW selenoprotein W JBrowse link 6 53,470,563 53,474,662 RGD:9068941
G SEMA3A semaphorin 3A JBrowse link 9 95,934,937 96,387,950 RGD:9068941
G SEMA3C semaphorin 3C JBrowse link 9 99,114,649 99,432,683 RGD:9068941
G SEMA3D semaphorin 3D JBrowse link 9 95,280,637 95,486,109 RGD:9068941
G SEMA3E semaphorin 3E JBrowse link 9 96,682,178 96,941,074 RGD:9068941
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase JBrowse link 8 19,097,788 19,162,246 RGD:9068941
G SETBP1 SET binding protein 1 JBrowse link 1 94,295,332 94,666,560 RGD:9068941
G SETD1B SET domain containing 1B, histone lysine methyltransferase JBrowse link 14 30,862,155 30,885,592 RGD:9068941
G SHANK3 SH3 and multiple ankyrin repeat domains 3 JBrowse link 5 41,376 93,033 RGD:9068941
G SIK1 salt inducible kinase 1 JBrowse link 13 206,454,695 206,465,802 RGD:9068941
G SIM2 SIM bHLH transcription factor 2 JBrowse link 13 200,354,963 200,408,890 RGD:9068941
G SIRT1 sirtuin 1 JBrowse link 14 71,091,167 71,126,351 RGD:9068941
G SLC12A2 solute carrier family 12 member 2 JBrowse link 2 131,016,430 131,109,307 RGD:9068941
G SLC12A5 solute carrier family 12 member 5 JBrowse link 17 48,192,072 48,230,674 RGD:9068941
G SLC13A5 solute carrier family 13 member 5 JBrowse link 12 50,679,900 50,710,985 RGD:9068941
G SLC1A1 solute carrier family 1 member 1 JBrowse link 1 217,366,493 217,441,643 RGD:9068941
G SLC1A2 solute carrier family 1 member 2 JBrowse link 2 25,603,892 25,771,840 RGD:9068941
G SLC1A3 solute carrier family 1 member 3 JBrowse link 16 21,873,691 21,965,315 RGD:9068941
G SLC25A22 solute carrier family 25 member 22 JBrowse link 2 491,288 498,773 RGD:9068941
G SLC2A1 solute carrier family 2 member 1 JBrowse link 6 168,535,398 168,561,170 RGD:9068941
G SLC38A11 solute carrier family 38 member 11 JBrowse link 15 71,561,270 71,613,425 RGD:9068941
G SLC4A10 solute carrier family 4 member 10 JBrowse link 15 68,342,607 68,655,009 RGD:9068941
G SLC6A1 solute carrier family 6 member 1 JBrowse link 13 67,156,786 67,199,092 RGD:9068941
G SLC6A8 solute carrier family 6 member 8 JBrowse link X 124,435,282 124,452,182 RGD:9068941
G SMC1A structural maintenance of chromosomes 1A JBrowse link X 46,143,738 46,202,187 RGD:9068941
G SNAP25 synaptosome associated protein 25 JBrowse link 17 19,096,115 19,227,580 RGD:9068941
G SPARCL1 SPARC like 1 JBrowse link 8 131,386,804 131,431,427 RGD:9068941
G SPAST spastin JBrowse link 3 107,439,810 107,508,915 RGD:9068941
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 6 414,930 439,206 RGD:9068941
G SPTAN1 spectrin alpha, non-erythrocytic 1 JBrowse link 1 268,936,120 269,002,261 RGD:9068941
G STAMBP STAM binding protein JBrowse link 3 69,156,012 69,188,256 RGD:9068941
G STRADA STE20 related adaptor alpha JBrowse link 12 15,191,793 15,222,709 RGD:9068941
G STX1B syntaxin 1B JBrowse link 3 17,439,563 17,459,517 RGD:9068941
G STXBP1 syntaxin binding protein 1 JBrowse link 1 268,116,124 268,205,805 RGD:9068941
G SYN2 synapsin II JBrowse link 13 68,050,015 68,221,504 RGD:9068941
G SYNGAP1 synaptic Ras GTPase activating protein 1 JBrowse link 7 29,723,745 29,752,351 RGD:9068941
G SZT2 SZT2 subunit of KICSTOR complex JBrowse link 6 167,811,589 167,861,321 RGD:9068941
G TANGO2 transport and golgi organization 2 homolog JBrowse link 14 51,443,597 51,464,370 RGD:9068941
G TBC1D24 TBC1 domain family member 24 JBrowse link 3 39,545,688 39,572,320 RGD:9068941
G TBCK TBC1 domain containing kinase JBrowse link 8 115,476,776 115,703,011 RGD:9068941
G TBL1XR1 TBL1X receptor 1 JBrowse link 13 115,312,444 115,488,228 RGD:9068941
G TBR1 T-box brain transcription factor 1 JBrowse link 15 68,208,884 68,222,993 RGD:9068941
G TCFL5 transcription factor like 5 JBrowse link 17 62,093,906 62,115,669 RGD:9068941
G TEFM transcription elongation factor, mitochondrial JBrowse link 12 42,864,582 42,875,705 RGD:9068941
G TGFB1 transforming growth factor beta 1 JBrowse link 6 49,332,169 49,348,642 RGD:9068941
G TH tyrosine hydroxylase JBrowse link 2 1,499,628 1,506,180 RGD:9068941
G TNF tumor necrosis factor JBrowse link 7 23,699,635 23,702,393 RGD:9068941
G TNFRSF13B TNF receptor superfamily member 13B JBrowse link 12 61,245,976 61,270,154 RGD:9068941
G TPP1 tripeptidyl peptidase 1 JBrowse link 9 3,135,580 3,143,408 RGD:9068941
G TRPM4 transient receptor potential cation channel subfamily M member 4 JBrowse link 6 54,342,774 54,377,557 RGD:9068941
G TSC1 TSC complex subunit 1 JBrowse link 1 272,636,530 272,685,948 RGD:9068941
G TSC2 TSC complex subunit 2 JBrowse link 3 39,898,924 39,935,579 RGD:9068941
G TSEN15 tRNA splicing endonuclease subunit 15 JBrowse link 9 125,300,273 125,396,965 RGD:9068941
G TSHR thyroid stimulating hormone receptor JBrowse link 7 103,768,260 103,925,777 RGD:9068941
G TTC3 tetratricopeptide repeat domain 3 JBrowse link 13 200,695,624 200,821,920 RGD:9068941
G TXNRD1 thioredoxin reductase 1 JBrowse link 5 80,170,334 80,213,889 RGD:9068941
G UBE3A ubiquitin protein ligase E3A JBrowse link 1 141,887,179 142,001,595 RGD:9068941
G UBE4A ubiquitination factor E4A JBrowse link 9 45,661,090 45,701,911 RGD:9068941
G VDAC1 voltage dependent anion channel 1 JBrowse link 2 136,302,188 136,334,461 RGD:9068941
G VDAC2 voltage dependent anion channel 2 JBrowse link 14 77,767,165 77,782,327 RGD:9068941
G VPS26C VPS26 endosomal protein sorting factor C JBrowse link 13 200,869,161 200,927,004 RGD:9068941
G WDR37 WD repeat domain 37 JBrowse link 10 68,416,058 68,529,662 RGD:9068941
G WDR45 WD repeat domain 45 JBrowse link X 43,150,691 43,155,981 RGD:9068941
G WFIKKN1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 JBrowse link 3 41,136,200 41,139,986 RGD:9068941
G ZNF142 zinc finger protein 142 JBrowse link 15 120,688,836 120,707,743 RGD:9068941
absence epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGFR3 fibroblast growth factor receptor 3 JBrowse link 8 879,151 894,968 RGD:9068941
G PCDH19 protocadherin 19 JBrowse link X 82,031,365 82,153,159 RGD:9068941
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 15 72,529,866 72,696,715 RGD:9068941
G SCN9A sodium voltage-gated channel alpha subunit 9 JBrowse link 15 72,745,706 72,912,352 RGD:9068941
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 15 117,617,584 117,649,063 RGD:7240710
RGD:9068941
Alcohol Withdrawal Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC29A1 solute carrier family 29 member 1 (Augustine blood group) JBrowse link 7 39,217,974 39,234,683 RGD:9068941
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 4 118,102,800 118,153,144 RGD:7240710
RGD:9068941
autosomal dominant mental retardation 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MEF2C myocyte enhancer factor 2C JBrowse link 2 96,122,407 96,296,927 RGD:7240710
RGD:9068941
Autosomal Dominant Mental Retardation 60 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AP2M1 adaptor related protein complex 2 subunit mu 1 JBrowse link 13 122,094,375 122,103,408 RGD:7240710
RGD:9068941
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 14 11,193,732 11,204,334 RGD:9068941
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 17 62,424,672 62,436,646 RGD:9068941
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit JBrowse link 4 95,196,992 95,211,084 RGD:9068941
G CRH corticotropin releasing hormone JBrowse link 4 68,481,696 68,486,122 RGD:9068941
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 17 62,517,811 62,526,379 RGD:9068941
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 17 62,459,277 62,506,403 RGD:9068941
G OPLAH 5-oxoprolinase, ATP-hydrolysing JBrowse link 4 629,901 639,420 RGD:9068941
G PPDPF pancreatic progenitor cell differentiation and proliferation factor JBrowse link 17 62,537,510 62,539,012 RGD:9068941
G PRIMA1 proline rich membrane anchor 1 JBrowse link 7 115,038,626 115,101,431 RGD:9068941
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 15 72,529,866 72,696,715 RGD:9068941
G TBC1D24 TBC1 domain family member 24 JBrowse link 3 39,545,688 39,572,320 RGD:9068941
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 17 62,424,672 62,436,646 RGD:7240710
RGD:9068941
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 4 95,196,992 95,211,084 RGD:7240710
RGD:9068941
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 14 11,193,732 11,204,334 RGD:7240710
RGD:9068941
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 RGD:7240710
RGD:9068941
G SPAG1 sperm associated antigen 1 JBrowse link 4 36,746,798 36,844,662 RGD:9068941
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 5 58,477,862 58,948,735 RGD:7240710
RGD:9068941
Autosomal Recessive Infantile Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNK2 tyrosine kinase non receptor 2 JBrowse link 13 134,082,266 134,124,826 RGD:9068941
autosomal recessive spinocerebellar ataxia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAF MAF bZIP transcription factor JBrowse link 6 8,468,736 8,910,012 RGD:9068941
G WWOX WW domain containing oxidoreductase JBrowse link 6 8,910,209 9,871,048 RGD:7240710
RGD:9068941
Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTB actin beta JBrowse link 3 4,084,275 4,090,383 RGD:9068941
G ACTG1 actin gamma 1 JBrowse link 12 1,320,355 1,323,219 RGD:9068941
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTB actin beta JBrowse link 3 4,084,275 4,090,383 RGD:7240710
RGD:9068941
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTG1 actin gamma 1 JBrowse link 12 1,320,355 1,323,219 RGD:7240710
RGD:9068941
benign epilepsy with centrotemporal spikes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ASAH1 N-acylsphingosine amidohydrolase 1 JBrowse link 17 5,712,048 5,749,811 RGD:9068941
G CHD2 chromodomain helicase DNA binding protein 2 JBrowse link 7 85,980,759 86,107,886 RGD:9068941
G CNTNAP2 contactin associated protein 2 JBrowse link 9 109,740,510 111,781,144 RGD:9068941
G CPA6 carboxypeptidase A6 JBrowse link 4 67,157,341 67,411,582 RGD:9068941
G CSTB cystatin B JBrowse link 13 206,706,060 206,710,598 RGD:9068941
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit JBrowse link 14 48,421,788 48,523,530 RGD:9068941
G EPM2A EPM2A glucan phosphatase, laforin JBrowse link 1 19,806,363 19,893,350 RGD:9068941
G GABRG2 gamma-aminobutyric acid type A receptor gamma2 subunit JBrowse link 16 61,441,622 61,543,375 RGD:9068941
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 RGD:9068941
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 3 32,749,329 33,149,350 RGD:9068941
G IER3IP1 immediate early response 3 interacting protein 1 JBrowse link 1 96,740,718 96,763,875 RGD:9068941
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 17 62,459,277 62,506,403 RGD:9068941
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 4 8,669,969 8,978,656 RGD:9068941
G KCNT1 potassium sodium-activated channel subfamily T member 1 RGD:9068941
G LOC100515171 sodium channel protein type 2 subunit alpha JBrowse link 15 71,864,753 71,999,219 RGD:9068941
G MAF MAF bZIP transcription factor JBrowse link 6 8,468,736 8,910,012 RGD:9068941
G PCDH19 protocadherin 19 JBrowse link X 82,031,365 82,153,159 RGD:9068941
G PLCB1 phospholipase C beta 1 JBrowse link 17 17,007,197 17,745,314 RGD:9068941
G PRICKLE1 prickle planar cell polarity protein 1 JBrowse link 5 73,707,026 73,826,529 RGD:9068941
G PRICKLE2 prickle planar cell polarity protein 2 JBrowse link 13 45,620,372 45,968,295 RGD:9068941
G RBFOX1 RNA binding fox-1 homolog 1 JBrowse link 3 34,938,703 37,209,772 RGD:9068941
G RBFOX3 RNA binding fox-1 homolog 3 JBrowse link 12 3,116,769 3,138,846 RGD:9068941
G RELN reelin JBrowse link 9 103,460,855 103,963,728 RGD:9068941
G SCARB2 scavenger receptor class B member 2 JBrowse link 8 71,838,395 71,910,461 RGD:9068941
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 15 72,529,866 72,696,715 RGD:9068941
G SCN1B sodium voltage-gated channel beta subunit 1 JBrowse link 6 44,597,461 44,607,488 RGD:9068941
G SCN9A sodium voltage-gated channel alpha subunit 9 JBrowse link 15 72,745,706 72,912,352 RGD:9068941
G SLC2A1 solute carrier family 2 member 1 JBrowse link 6 168,535,398 168,561,170 RGD:9068941
G SLC6A1 solute carrier family 6 member 1 JBrowse link 13 67,156,786 67,199,092 RGD:9068941
G SNIP1 Smad nuclear interacting protein 1 JBrowse link 6 93,597,050 93,612,169 RGD:9068941
G SPTAN1 spectrin alpha, non-erythrocytic 1 JBrowse link 1 268,936,120 269,002,261 RGD:9068941
G STRADA STE20 related adaptor alpha JBrowse link 12 15,191,793 15,222,709 RGD:9068941
G SZT2 SZT2 subunit of KICSTOR complex JBrowse link 6 167,811,589 167,861,321 RGD:9068941
G TBC1D24 TBC1 domain family member 24 JBrowse link 3 39,545,688 39,572,320 RGD:9068941
G WWOX WW domain containing oxidoreductase JBrowse link 6 8,910,209 9,871,048 RGD:9068941
benign familial infantile epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100515171 sodium channel protein type 2 subunit alpha JBrowse link 15 71,864,753 71,999,219 RGD:9068941
G PRRT2 proline rich transmembrane protein 2 JBrowse link 3 18,048,614 18,052,481 RGD:9068941
Benign Familial Infantile Seizures, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRRT2 proline rich transmembrane protein 2 JBrowse link 3 18,048,614 18,052,481 RGD:7240710
RGD:9068941
Benign Familial Infantile Seizures, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100515171 sodium channel protein type 2 subunit alpha JBrowse link 15 71,864,753 71,999,219 RGD:7240710
RGD:9068941
Benign Familial Infantile Seizures, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 4 8,669,969 8,978,656 RGD:9068941
G SCN8A sodium voltage-gated channel alpha subunit 8 JBrowse link 5 16,977,468 17,173,831 RGD:7240710
RGD:9068941
benign familial neonatal epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 17 62,459,277 62,506,403 RGD:9068941
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 4 8,669,969 8,978,656 RGD:9068941
G LOC100515171 sodium channel protein type 2 subunit alpha JBrowse link 15 71,864,753 71,999,219 RGD:9068941
G SCN3A sodium voltage-gated channel alpha subunit 3 JBrowse link 15 71,717,330 71,824,190 RGD:9068941
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 17 62,459,277 62,506,403 RGD:7240710
RGD:9068941
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 17 62,459,277 62,506,403 RGD:9068941
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 4 8,669,969 8,978,656 RGD:7240710
RGD:9068941
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 17 62,459,277 62,506,403 RGD:9068941
benign neonatal seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 JBrowse link 2 129,663,226 129,709,728 RGD:9068941
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 4 90,341,316 90,371,040 RGD:9068941
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 17 62,459,277 62,506,403 RGD:9068941
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 JBrowse link 4 8,669,969 8,978,656 RGD:9068941
G POLG DNA polymerase gamma, catalytic subunit JBrowse link 7 54,889,150 54,907,167 RGD:9068941
Borjeson-Forssman-Lehmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PHF6 PHD finger protein 6 JBrowse link X 110,249,010 110,311,503 RGD:7240710
RGD:9068941
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 3 17,100,612 17,108,523 RGD:9068941
G BCKDK branched chain keto acid dehydrogenase kinase JBrowse link 3 17,375,628 17,380,925 RGD:7240710
RGD:9068941
G BCL7C BAF chromatin remodeling complex subunit BCL7C JBrowse link 3 17,547,546 17,589,431 RGD:9068941
G CCDC189 coiled-coil domain containing 189 JBrowse link 3 17,636,154 17,640,727 RGD:9068941
G FBRS fibrosin JBrowse link 3 17,731,276 17,743,811 RGD:9068941
G FBXL19 F-box and leucine rich repeat protein 19 JBrowse link 3 17,497,486 17,521,759 RGD:9068941
G FUS FUS RNA binding protein JBrowse link 3 17,314,936 17,326,663 RGD:9068941
G HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 JBrowse link 3 17,459,627 17,463,381 RGD:9068941
G ITGAM integrin subunit alpha M JBrowse link 3 17,216,719 17,272,134 RGD:9068941
G KAT8 lysine acetyltransferase 8 JBrowse link 3 17,362,326 17,373,110 RGD:9068941
G LOC100522011 apoptosis-associated speck-like protein containing a CARD JBrowse link 3 17,305,921 17,307,521 RGD:9068941
G LOC100626250 cytochrome c oxidase subunit 6A2, mitochondrial JBrowse link 3 17,108,623 17,135,108 RGD:9068941
G LOC100736818 cardiotrophin-1 JBrowse link 3 17,539,927 17,545,250 RGD:9068941
G LOC106508100 zinc finger protein 791-like JBrowse link 2 66,650,443 66,711,348 RGD:9068941
G ORAI3 ORAI calcium release-activated calcium modulator 3 JBrowse link 3 17,490,524 17,497,391 RGD:9068941
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 JBrowse link 3 17,640,790 17,656,765 RGD:9068941
G PRR14 proline rich 14 JBrowse link 3 17,745,885 17,751,380 RGD:9068941
G PRSS36 serine protease 36 JBrowse link 3 17,345,015 17,354,688 RGD:9068941
G PRSS53 serine protease 53 JBrowse link 3 17,390,801 17,396,885 RGD:9068941
G PRSS8 serine protease 8 JBrowse link 3 17,357,793 17,362,223 RGD:9068941
G RNF40 ring finger protein 40 JBrowse link 3 17,622,309 17,635,990 RGD:9068941
G RUSF1 RUS family member 1 JBrowse link 3 17,065,780 17,082,441 RGD:9068941
G SETD1A SET domain containing 1A, histone lysine methyltransferase JBrowse link 3 17,463,768 17,490,397 RGD:9068941
G SLC5A2 solute carrier family 5 member 2 JBrowse link 3 17,081,138 17,089,422 RGD:9068941
G SRCAP Snf2 related CREBBP activator protein JBrowse link 3 17,662,374 17,702,862 RGD:9068941
G STX1B syntaxin 1B JBrowse link 3 17,439,563 17,459,517 RGD:9068941
G STX4 syntaxin 4 JBrowse link 3 17,422,266 17,431,377 RGD:9068941
G TGFB1I1 transforming growth factor beta 1 induced transcript 1 JBrowse link 3 17,093,275 17,099,204 RGD:9068941
G TRIM72 tripartite motif containing 72 JBrowse link 3 17,286,471 17,297,841 RGD:9068941
G VKORC1 vitamin K epoxide reductase complex subunit 1 JBrowse link 3 17,386,230 17,389,162 RGD:9068941
G ZNF629 zinc finger protein 629 JBrowse link 3 17,610,100 17,622,577 RGD:9068941
G ZNF646 zinc finger protein 646 JBrowse link 3 17,396,757 17,406,630 RGD:9068941
G ZNF668 zinc finger protein 668 JBrowse link 3 17,406,263 17,417,115 RGD:9068941
G ZNF688 zinc finger protein 688 JBrowse link 3 17,791,430 17,795,431 RGD:9068941
G ZNF689 zinc finger protein 689 JBrowse link 3 17,766,740 17,772,875 RGD:9068941
G ZNF764 zinc finger protein 764 JBrowse link 3 17,799,701 17,806,967 RGD:9068941
Cerebellar Atrophy with Seizures and Variable Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 13 32,845,110 32,988,851 RGD:7240710
RGD:9068941
G LOC100517372 cytochrome b561 domain-containing protein 2 JBrowse link 13 32,834,206 32,837,007 RGD:9068941
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 14 79,345,382 80,106,337 RGD:7240710
RGD:9068941
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 12 53,427,807 53,454,149 RGD:9068941
G STN1 STN1 subunit of CST complex JBrowse link 14 114,808,217 114,851,130 RGD:9068941
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTC1 CST telomere replication complex component 1 JBrowse link 12 53,427,807 53,454,149 RGD:7240710
RGD:9068941
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 14 114,808,217 114,851,130 RGD:7240710
RGD:9068941
childhood absence epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 2 65,491,784 65,871,068 RGD:9068941
G CACNA1H calcium voltage-gated channel subunit alpha1 H JBrowse link 3 40,637,420 40,694,616 RGD:7240710
RGD:9068941
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 13 32,845,110 32,988,851 RGD:9068941
G CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 JBrowse link 5 11,067,016 11,185,480 RGD:9068941
G CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 JBrowse link 3 21,855,847 21,961,191 RGD:9068941
G EFHC1 EF-hand domain containing 1 JBrowse link 7 46,244,915 46,320,261 RGD:9068941
G GABRA1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 16 61,656,583 61,723,428 RGD:9068941
G GABRA6 gamma-aminobutyric acid type A receptor alpha6 subunit JBrowse link 16 61,855,698 61,872,503 RGD:9068941
G GABRB3 gamma-aminobutyric acid type A receptor beta3 subunit JBrowse link 1 140,566,443 140,906,516 RGD:7240710
RGD:9068941
G GABRG2 gamma-aminobutyric acid type A receptor gamma2 subunit JBrowse link 16 61,441,622 61,543,375 RGD:9068941
G GLUD1 glutamate dehydrogenase 1 JBrowse link 14 87,968,850 88,005,375 RGD:9068941
G GRIK1 glutamate ionotropic receptor kainate type subunit 1 JBrowse link 13 192,877,707 193,296,954 RGD:9068941
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 JBrowse link 16 29,439,294 29,808,855 RGD:9068941
G HTR7 5-hydroxytryptamine receptor 7 JBrowse link 14 102,443,312 102,548,894 RGD:9068941
G JRK Jrk helix-turn-helix protein JBrowse link 4 1,476,298 1,493,597 RGD:9068941
G KCNK9 potassium two pore domain channel subfamily K member 9 JBrowse link 4 3,562,086 3,643,248 RGD:9068941
G LGI4 leucine rich repeat LGI family member 4 JBrowse link 6 44,655,621 44,663,874 RGD:9068941
G MMP9 matrix metallopeptidase 9 JBrowse link 17 48,179,690 48,186,782 RGD:9068941
G NPY neuropeptide Y JBrowse link 18 47,985,796 47,993,726 RGD:9068941
G NPY1R neuropeptide Y receptor Y1 JBrowse link 8 52,152,649 52,163,080 RGD:9068941
G NPY2R neuropeptide Y receptor Y2 JBrowse link 8 74,039,959 74,048,398 RGD:9068941
G NPY5R neuropeptide Y receptor Y5 JBrowse link 8 52,173,906 52,183,336 RGD:9068941
G SCN1B sodium voltage-gated channel beta subunit 1 JBrowse link 6 44,597,461 44,607,488 RGD:9068941
G SLC2A1 solute carrier family 2 member 1 JBrowse link 6 168,535,398 168,561,170 RGD:9068941
G YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta JBrowse link 4 35,975,513 36,009,909 RGD:9068941
Childhood Absence Epilepsy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRB3 gamma-aminobutyric acid type A receptor beta3 subunit JBrowse link 1 140,566,443 140,906,516 RGD:9068941
G RORB RAR related orphan receptor B JBrowse link 1 227,573,972 227,776,806 RGD:9068941
Childhood Absence Epilepsy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRG2 gamma-aminobutyric acid type A receptor gamma2 subunit JBrowse link 16 61,441,622 61,543,375 RGD:9068941
childhood electroclinical syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 2 65,491,784 65,871,068 RGD:9068941
childhood onset epileptic encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCDC120 coiled-coil domain containing 120 JBrowse link X 43,128,938 43,146,777 RGD:9068941
G CHD2 chromodomain helicase DNA binding protein 2 JBrowse link 7 85,980,759 86,107,886 RGD:7240710
RGD:9068941
G DNM1 dynamin 1 JBrowse link 1 268,653,045 268,702,233 RGD:9068941
G FMR1 FMRP translational regulator 1 JBrowse link X 120,361,232 120,400,282 RGD:9068941
G PPP3CA protein phosphatase 3 catalytic subunit alpha JBrowse link 8 119,429,181 119,754,615 RGD:9068941
G PRAF2 PRA1 domain family member 2 JBrowse link X 43,147,473 43,150,350 RGD:9068941
G RBFOX1 RNA binding fox-1 homolog 1 JBrowse link 3 34,938,703 37,209,772 RGD:9068941
G SLC13A5 solute carrier family 13 member 5 JBrowse link 12 50,679,900 50,710,985 RGD:9068941
G SRGAP2 SLIT-ROBO Rho GTPase activating protein 2 JBrowse link 9 66,838,062 67,117,315 RGD:9068941
G STXBP1 syntaxin binding protein 1 JBrowse link 1 268,116,124 268,205,805 RGD:9068941
G TBC1D24 TBC1 domain family member 24 JBrowse link 3 39,545,688 39,572,320 RGD:9068941
G WDR45 WD repeat domain 45 JBrowse link X 43,150,691 43,155,981 RGD:9068941
Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 14,858,826 15,096,969 RGD:9068941
G HIVEP2 HIVEP zinc finger 2 JBrowse link 1 22,240,681 22,436,945 RGD:9068941
G MECP2 methyl-CpG binding protein 2 JBrowse link X 124,735,523 124,789,063 RGD:9068941
G RS1 retinoschisin 1 JBrowse link X 15,080,972 15,099,426 RGD:9068941
G SLC9A6 solute carrier family 9 member A6 JBrowse link X 111,176,461 111,233,108 RGD:7240710
RGD:9068941
G UBE3A ubiquitin protein ligase E3A JBrowse link 1 141,887,179 142,001,595 RGD:9068941
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 1 142,803,697 142,937,124 RGD:9068941
G FAN1 FANCD2 and FANCI associated nuclease 1 JBrowse link 1 143,919,695 143,961,678 RGD:9068941
G KLF13 Kruppel like factor 13 JBrowse link 1 143,499,136 143,540,233 RGD:9068941
G MTMR10 myotubularin related protein 10 JBrowse link 1 143,867,746 143,917,881 RGD:9068941
G OTUD7A OTU deubiquitinase 7A JBrowse link 1 143,109,177 143,426,305 RGD:9068941
G TRPM1 transient receptor potential cation channel subfamily M member 1 JBrowse link 1 143,718,295 143,856,968 RGD:9068941
complex partial epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCN3A sodium voltage-gated channel alpha subunit 3 JBrowse link 15 71,717,330 71,824,190 RGD:9068941
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 43,128,938 43,146,777 RGD:9068941
G ERAS ES cell expressed Ras JBrowse link X 42,942,033 42,946,715 RGD:9068941
G GATA1 GATA binding protein 1 JBrowse link X 42,898,431 42,905,939 RGD:9068941
G GLOD5 glyoxalase domain containing 5 JBrowse link X 42,877,034 42,889,285 RGD:9068941
G GRIPAP1 GRIP1 associated protein 1 JBrowse link X 43,043,613 43,070,363 RGD:9068941
G HDAC6 histone deacetylase 6 JBrowse link X 42,917,911 42,941,894 RGD:9068941
G KCND1 potassium voltage-gated channel subfamily D member 1 JBrowse link X 43,032,355 43,043,310 RGD:9068941
G OTUD5 OTU deubiquitinase 5 JBrowse link X 43,001,491 43,029,471 RGD:9068941
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor JBrowse link X 42,947,688 42,952,222 RGD:9068941
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase JBrowse link X 42,993,547 42,998,575 RGD:9068941
G PQBP1 polyglutamine binding protein 1 JBrowse link X 42,976,086 42,981,732 RGD:9068941
G PRAF2 PRA1 domain family member 2 JBrowse link X 43,147,473 43,150,350 RGD:9068941
G SLC35A2 solute carrier family 35 member A2 JBrowse link X 42,981,801 42,992,091 RGD:7240710
RGD:9068941
G SUV39H1 suppressor of variegation 3-9 homolog 1 JBrowse link X 42,797,309 42,811,457 RGD:9068941
G TFE3 transcription factor binding to IGHM enhancer 3 JBrowse link X 43,100,375 43,116,377 RGD:9068941
G TIMM17B translocase of inner mitochondrial membrane 17B JBrowse link X 42,970,586 42,976,287 RGD:9068941
G WAS WASP actin nucleation promoting factor JBrowse link X 42,774,597 42,793,055 RGD:9068941
G WDR45 WD repeat domain 45 JBrowse link X 43,150,691 43,155,981 RGD:9068941
CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATN1 atrophin 1 JBrowse link 5 63,782,159 63,795,648 RGD:7240710
RGD:9068941
cortical dysplasia-focal epilepsy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CNTNAP2 contactin associated protein 2 JBrowse link 9 109,740,510 111,781,144 RGD:7240710
RGD:9068941
G TPK1 thiamin pyrophosphokinase 1 JBrowse link 9 112,931,370 113,305,178 RGD:9068941
Craniosynostosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MSX2 msh homeobox 2 JBrowse link 16 49,765,587 49,771,745 RGD:7240710
RGD:9068941
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 6 168,535,398 168,561,170 RGD:7240710
RGD:9068941
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATN1 atrophin 1 JBrowse link 5 63,782,159 63,795,648 RGD:7240710
RGD:9068941
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 6 83,823,262 83,855,101 RGD:7240710
RGD:9068941
Developmental Delay, Epilepsy, and Neonatal Diabetes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNJ11 potassium inwardly rectifying channel subfamily J member 11 JBrowse link 2 41,756,637 41,760,340 RGD:9068941
Dravet syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRG2 gamma-aminobutyric acid type A receptor gamma2 subunit JBrowse link 16 61,441,622 61,543,375 RGD:9068941
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 15 72,529,866 72,696,715 RGD:7240710
RGD:9068941
G SCN9A sodium voltage-gated channel alpha subunit 9 JBrowse link 15 72,745,706 72,912,352 RGD:7240710
RGD:9068941
G SNX27 sorting nexin 27 JBrowse link 4 97,533,643 97,620,816 RGD:9068941
Drug Resistant Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GAD1 glutamate decarboxylase 1 JBrowse link 15 76,991,863 77,034,819 RGD:9068941
Dyskinesias, Seizures, and Intellectual Developmental Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DEAF1 DEAF1 transcription factor JBrowse link 2 404,514 427,584 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AK1 adenylate kinase 1 JBrowse link 1 268,355,032 268,365,659 RGD:9068941
G ARHGEF15 Rho guanine nucleotide exchange factor 15 JBrowse link 12 53,495,409 53,506,373 RGD:9068941
G ARX aristaless related homeobox JBrowse link X 21,067,631 21,079,850 RGD:9068941
G C1H9orf16 chromosome 1 C9orf16 homolog JBrowse link 1 268,616,040 268,619,638 RGD:9068941
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 13 32,845,110 32,988,851 RGD:9068941
G CDK9 cyclin dependent kinase 9 JBrowse link 1 268,277,083 268,280,493 RGD:9068941
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 14,858,826 15,096,969 RGD:9068941
G CERCAM cerebral endothelial cell adhesion molecule JBrowse link 1 268,834,967 268,847,236 RGD:9068941
G CFAP157 cilia and flagella associated protein 157 JBrowse link 1 268,209,190 268,213,909 RGD:9068941
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 17 62,424,672 62,436,646 RGD:9068941
G CIZ1 CDKN1A interacting zinc finger protein 1 JBrowse link 1 268,618,972 268,642,064 RGD:9068941
G COQ4 coenzyme Q4 JBrowse link 1 268,756,690 268,768,355 RGD:9068941
G CSRNP3 cysteine and serine rich nuclear protein 3 JBrowse link 15 72,040,854 72,242,269 RGD:9068941
G DNM1 dynamin 1 JBrowse link 1 268,653,045 268,702,233 RGD:9068941
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory JBrowse link 1 268,420,273 268,423,557 RGD:9068941
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 17 62,517,811 62,526,379 RGD:9068941
G ENG endoglin JBrowse link 1 268,309,379 268,343,861 RGD:9068941
G FPGS folylpolyglutamate synthase JBrowse link 1 268,281,298 268,309,397 RGD:9068941
G GABRA2 gamma-aminobutyric acid type A receptor alpha2 subunit JBrowse link 8 36,344,633 36,474,840 RGD:9068941
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 JBrowse link 15 72,276,502 72,343,524 RGD:9068941
G GLE1 GLE1 RNA export mediator JBrowse link 1 268,894,281 268,922,752 RGD:9068941
G GNAO1 G protein subunit alpha o1 JBrowse link 6 29,416,574 29,592,874 RGD:9068941
G GOLGA2 golgin A2 JBrowse link 1 268,702,823 268,721,174 RGD:9068941
G GOT2 glutamic-oxaloacetic transaminase 2 JBrowse link 6 20,407,203 20,431,849 RGD:9068941
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 JBrowse link 16 29,439,294 29,808,855 RGD:9068941
G KCNH5 potassium voltage-gated channel subfamily H member 5 JBrowse link 1 194,965,696 195,264,046 RGD:9068941
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 17 62,459,277 62,506,403 RGD:9068941
G LCN2 lipocalin 2 JBrowse link 1 268,609,975 268,614,651 RGD:9068941
G LOC100515171 sodium channel protein type 2 subunit alpha JBrowse link 15 71,864,753 71,999,219 RGD:9068941
G LOC100517372 cytochrome b561 domain-containing protein 2 JBrowse link 13 32,834,206 32,837,007 RGD:9068941
G MIR199B microRNA mir-199b JBrowse link 1 268,691,520 268,691,593 RGD:9068941
G MIR219B microRNA mir-219b JBrowse link 1 268,816,967 268,817,050 RGD:9068941
G NAIF1 nuclear apoptosis inducing factor 1 JBrowse link 1 268,522,131 268,531,528 RGD:9068941
G ODF2 outer dense fiber of sperm tails 2 JBrowse link 1 268,856,755 268,893,390 RGD:9068941
G PIGP phosphatidylinositol glycan anchor biosynthesis class P JBrowse link 13 200,686,716 200,695,537 RGD:9068941
G PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 JBrowse link 1 268,409,113 268,417,580 RGD:9068941
G PPDPF pancreatic progenitor cell differentiation and proliferation factor JBrowse link 17 62,537,510 62,539,012 RGD:9068941
G PTGES2 prostaglandin E synthase 2 JBrowse link 1 268,585,725 268,591,356 RGD:9068941
G PTK6 protein tyrosine kinase 6 JBrowse link 17 62,538,853 62,547,866 RGD:9068941
G PTRH1 peptidyl-tRNA hydrolase 1 homolog JBrowse link 1 268,213,685 268,215,498 RGD:9068941
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 15 72,529,866 72,696,715 RGD:9068941
G SCN3A sodium voltage-gated channel alpha subunit 3 JBrowse link 15 71,717,330 71,824,190 RGD:9068941
G SCN8A sodium voltage-gated channel alpha subunit 8 JBrowse link 5 16,977,468 17,173,831 RGD:9068941
G SCN9A sodium voltage-gated channel alpha subunit 9 JBrowse link 15 72,745,706 72,912,352 RGD:9068941
G SH2D3C SH2 domain containing 3C JBrowse link 1 268,238,967 268,270,395 RGD:9068941
G SLC25A22 solute carrier family 25 member 22 JBrowse link 2 491,288 498,773 RGD:9068941
G SLC25A25 solute carrier family 25 member 25 JBrowse link 1 268,531,752 268,575,195 RGD:9068941
G SLC27A4 solute carrier family 27 member 4 JBrowse link 1 268,773,792 268,788,208 RGD:9068941
G SPTAN1 spectrin alpha, non-erythrocytic 1 JBrowse link 1 268,936,120 269,002,261 RGD:9068941
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 6 167,363,348 167,596,892 RGD:9068941
G ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 JBrowse link 1 268,391,851 268,402,449 RGD:9068941
G ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 JBrowse link 1 268,371,569 268,383,559 RGD:9068941
G STXBP1 syntaxin binding protein 1 JBrowse link 1 268,116,124 268,205,805 RGD:9068941
G SWI5 SWI5 homologous recombination repair protein JBrowse link 1 268,720,232 268,726,527 RGD:9068941
G TOR2A torsin family 2 member A JBrowse link 1 268,233,103 268,237,478 RGD:9068941
G TRUB2 TruB pseudouridine synthase family member 2 JBrowse link 1 268,745,815 268,757,771 RGD:9068941
G TTC16 tetratricopeptide repeat domain 16 JBrowse link 1 268,215,559 268,233,175 RGD:9068941
G TTC21B tetratricopeptide repeat domain 21B JBrowse link 15 72,430,250 72,512,503 RGD:9068941
G UBA5 ubiquitin like modifier activating enzyme 5 JBrowse link 13 73,831,485 73,859,781 RGD:9068941
G URM1 ubiquitin related modifier 1 JBrowse link 1 268,798,439 268,815,553 RGD:9068941
G WDR34 WD repeat domain 34 JBrowse link 1 269,002,252 269,030,978 RGD:9068941
early infantile epileptic encephalopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS1 alanyl-tRNA synthetase 1 JBrowse link 6 13,298,336 13,321,423 RGD:9068941
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 91,644,586 91,708,695 RGD:9068941
G ARX aristaless related homeobox JBrowse link X 21,067,631 21,079,850 RGD:7240710
RGD:9068941
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 2 65,491,784 65,871,068 RGD:9068941
G GABRB3 gamma-aminobutyric acid type A receptor beta3 subunit JBrowse link 1 140,566,443 140,906,516 RGD:9068941
G GNAO1 G protein subunit alpha o1 JBrowse link 6 29,416,574 29,592,874 RGD:9068941
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 JBrowse link 16 29,439,294 29,808,855 RGD:9068941
G LOC100523244 casein kinase I JBrowse link 5 9,594,461 9,620,483 RGD:9068941
G MAF MAF bZIP transcription factor JBrowse link 6 8,468,736 8,910,012 RGD:9068941
G NRXN2 neurexin 2 JBrowse link 2 7,454,771 7,554,180 RGD:9068941
G PLCB1 phospholipase C beta 1 JBrowse link 17 17,007,197 17,745,314 RGD:9068941
G POLA1 DNA polymerase alpha 1, catalytic subunit JBrowse link X 20,756,674 21,064,265 RGD:9068941
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 15 72,529,866 72,696,715 RGD:9068941
G SLC35A2 solute carrier family 35 member A2 JBrowse link X 42,981,801 42,992,091 RGD:9068941
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 6 167,363,348 167,596,892 RGD:9068941
G SYNJ1 synaptojanin 1 JBrowse link 13 196,230,101 196,330,512 RGD:9068941
G SZT2 SZT2 subunit of KICSTOR complex JBrowse link 6 167,811,589 167,861,321 RGD:9068941
G TBC1D24 TBC1 domain family member 24 JBrowse link 3 39,545,688 39,572,320 RGD:9068941
G WWOX WW domain containing oxidoreductase JBrowse link 6 8,910,209 9,871,048 RGD:9068941
early infantile epileptic encephalopathy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100515171 sodium channel protein type 2 subunit alpha JBrowse link 15 71,864,753 71,999,219 RGD:7240710
RGD:9068941
G SCN3A sodium voltage-gated channel alpha subunit 3 JBrowse link 15 71,717,330 71,824,190 RGD:9068941
early infantile epileptic encephalopathy 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLCB1 phospholipase C beta 1 JBrowse link 17 17,007,197 17,745,314 RGD:7240710
RGD:9068941
G PNKP polynucleotide kinase 3'-phosphatase JBrowse link 6 54,870,359 54,880,814 RGD:9068941
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 5 16,977,468 17,173,831 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CAMSAP1 calmodulin regulated spectrin associated protein 1 RGD:9068941
G CARD9 caspase recruitment domain family member 9 RGD:9068941
G DNLZ DNL-type zinc finger RGD:9068941
G ENTR1 endosome associated trafficking regulator 1 RGD:9068941
G GPSM1 G protein signaling modulator 1 RGD:9068941
G INPP5E inositol polyphosphate-5-phosphatase E RGD:9068941
G KCNT1 potassium sodium-activated channel subfamily T member 1 RGD:7240710
RGD:9068941
G LHX3 LIM homeobox 3 RGD:9068941
G LOC100515171 sodium channel protein type 2 subunit alpha JBrowse link 15 71,864,753 71,999,219 RGD:9068941
G NACC2 NACC family member 2 RGD:9068941
G NOTCH1 notch receptor 1 RGD:9068941
G PMPCA peptidase, mitochondrial processing alpha subunit RGD:9068941
G QSOX2 quiescin sulfhydryl oxidase 2 RGD:9068941
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor RGD:9068941
G SNAPC4 small nuclear RNA activating complex polypeptide 4 RGD:9068941
G TMEM250 transmembrane protein 250 RGD:9068941
G UBAC1 UBA domain containing 1 RGD:9068941
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 6 167,363,348 167,596,892 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBC1D24 TBC1 domain family member 24 JBrowse link 3 39,545,688 39,572,320 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GNAO1 G protein subunit alpha o1 JBrowse link 6 29,416,574 29,592,874 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SZT2 SZT2 subunit of KICSTOR complex JBrowse link 6 167,811,589 167,861,321 RGD:7240710
RGD:9068941
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 16 61,656,583 61,723,428 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BEND2 BEN domain containing 2 JBrowse link X 14,635,795 14,703,934 RGD:9068941
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 14,858,826 15,096,969 RGD:7240710
RGD:9068941
G NHS NHS actin remodeling regulator JBrowse link X 13,854,950 14,209,085 RGD:9068941
G RAI2 retinoic acid induced 2 JBrowse link X 14,246,776 14,633,071 RGD:9068941
G RS1 retinoschisin 1 JBrowse link X 15,080,972 15,099,426 RGD:9068941
G SCML1 Scm polycomb group protein like 1 JBrowse link X 14,210,164 14,222,053 RGD:9068941
G SCML2 Scm polycomb group protein like 2 JBrowse link X 14,715,357 14,823,016 RGD:9068941
early infantile epileptic encephalopathy 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NECAP1 NECAP endocytosis associated 1 JBrowse link 5 63,122,280 63,135,550 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DOCK7 dedicator of cytokinesis 7 JBrowse link 6 149,745,375 149,971,853 RGD:7240710
RGD:9068941
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 16 29,439,294 29,808,855 RGD:7240710
RGD:9068941
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 12 50,903,358 50,917,187 RGD:9068941
G C12H17orf100 chromosome 12 C17orf100 homolog JBrowse link 12 50,644,783 50,728,768 RGD:9068941
G KIAA0753 KIAA0753 ortholog JBrowse link 12 50,737,158 50,793,187 RGD:9068941
G MED31 mediator complex subunit 31 JBrowse link 12 50,728,681 50,734,469 RGD:9068941
G PIMREG PICALM interacting mitotic regulator JBrowse link 12 50,898,493 50,903,238 RGD:9068941
G PITPNM3 PITPNM family member 3 JBrowse link 12 50,806,302 50,898,316 RGD:9068941
G SLC13A5 solute carrier family 13 member 5 JBrowse link 12 50,679,900 50,710,985 RGD:7240710
RGD:9068941
G TXNDC17 thioredoxin domain containing 17 JBrowse link 12 50,734,669 50,737,309 RGD:9068941
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 17 51,032,163 51,152,566 RGD:7240710
RGD:9068941
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 5 58,477,862 58,948,735 RGD:7240710
RGD:9068941
G MBD5 methyl-CpG binding domain protein 5 JBrowse link 15 3,649,859 4,096,459 RGD:9068941
early infantile epileptic encephalopathy 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WWOX WW domain containing oxidoreductase JBrowse link 6 8,910,209 9,871,048 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AARS1 alanyl-tRNA synthetase 1 JBrowse link 6 13,298,336 13,321,423 RGD:7240710
RGD:9068941
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 2 491,288 498,773 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SIK1 salt inducible kinase 1 JBrowse link 13 206,454,695 206,465,802 RGD:7240710
RGD:9068941
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 1 268,618,972 268,642,064 RGD:9068941
G DNM1 dynamin 1 JBrowse link 1 268,653,045 268,702,233 RGD:7240710
RGD:9068941
G MIR199B microRNA mir-199b JBrowse link 1 268,691,520 268,691,593 RGD:9068941
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 4 109,534,923 109,570,172 RGD:7240710
RGD:9068941
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 17 62,424,672 62,436,646 RGD:9068941
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 17 62,517,811 62,526,379 RGD:7240710
RGD:9068941
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 17 62,459,277 62,506,403 RGD:9068941
G PPDPF pancreatic progenitor cell differentiation and proliferation factor JBrowse link 17 62,537,510 62,539,012 RGD:9068941
G PTK6 protein tyrosine kinase 6 JBrowse link 17 62,538,853 62,547,866 RGD:9068941
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 17 48,192,072 48,230,674 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITPA inosine triphosphatase JBrowse link 17 32,458,351 32,474,827 RGD:7240710
RGD:9068941
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 91,644,586 91,708,695 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FRRS1L ferric chelate reductase 1 like JBrowse link 1 250,187,568 250,220,716 RGD:7240710
RGD:9068941
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 14 59,396,958 59,409,008 RGD:7240710
RGD:9068941
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 15 77,895,935 78,021,930 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 1 267,964,875 268,008,833 RGD:9068941
G NIBAN2 niban apoptosis regulator 2 JBrowse link 1 268,010,297 268,066,022 RGD:9068941
G STXBP1 syntaxin binding protein 1 JBrowse link 1 268,116,124 268,205,805 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GUF1 GUF1 homolog, GTPase JBrowse link 8 35,167,615 35,190,587 RGD:7240710
RGD:9068941
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 2 25,603,892 25,771,840 RGD:7240710
RGD:9068941
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 2 65,491,784 65,871,068 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRB3 gamma-aminobutyric acid type A receptor beta3 subunit JBrowse link 1 140,566,443 140,906,516 RGD:7240710
RGD:9068941
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 13 73,831,485 73,859,781 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRB1 gamma-aminobutyric acid type A receptor beta1 subunit JBrowse link 8 36,978,014 37,354,950 RGD:7240710
RGD:9068941
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 6 53,809,590 53,849,535 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FGF12 fibroblast growth factor 12 JBrowse link 13 129,237,500 129,817,992 RGD:7240710
RGD:9068941
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 7 52,202,649 52,294,154 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DENND5A DENN domain containing 5A JBrowse link 9 268,372 357,334 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPTAN1 spectrin alpha, non-erythrocytic 1 JBrowse link 1 268,936,120 269,002,261 RGD:7240710
RGD:9068941
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 3 111,887,017 111,914,511 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MDH2 malate dehydrogenase 2 JBrowse link 3 10,120,121 10,132,705 RGD:7240710
RGD:9068941
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 6 44,597,461 44,607,488 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 53 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SYNJ1 synaptojanin 1 JBrowse link 13 196,230,101 196,330,512 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 54 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HNRNPU heterogeneous nuclear ribonucleoprotein U JBrowse link 10 17,475,266 17,497,060 RGD:7240710
RGD:9068941
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 13 200,686,716 200,695,537 RGD:7240710
RGD:9068941
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 3 9,994,802 10,023,296 RGD:7240710
RGD:9068941
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 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 58 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NTRK2 neurotrophic receptor tyrosine kinase 2 JBrowse link 10 30,030,050 30,429,938 RGD:7240710
RGD:9068941
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 1 240,107,469 240,495,917 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 60 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CNPY3 canopy FGF signaling regulator 3 JBrowse link 7 38,014,766 38,025,752 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 61 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM22 ADAM metallopeptidase domain 22 JBrowse link 9 68,253,023 68,490,327 RGD:7240710
RGD:9068941
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 15 71,717,330 71,824,190 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 63 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPLX1 complexin 1 JBrowse link 8 197,876 231,721 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 65 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYFIP2 cytoplasmic FMR1 interacting protein 2 JBrowse link 16 65,852,584 66,001,576 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 66 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PACS2 phosphofurin acidic cluster sorting protein 2 RGD:7240710
RGD:9068941
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 17 62,459,277 62,506,403 RGD:7240710
RGD:9068941
G NEXMIF neurite extension and migration factor JBrowse link X 59,967,712 60,013,938 RGD:9068941
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 50,159,912 50,578,020 RGD:7240710
RGD:9068941
early infantile epileptic encephalopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCDH19 protocadherin 19 JBrowse link X 82,031,365 82,153,159 RGD:7240710
RGD:9068941
G SRPX2 sushi repeat containing protein X-linked 2 JBrowse link X 82,336,741 82,363,868 RGD:9068941
G TNMD tenomodulin JBrowse link X 82,269,323 82,292,083 RGD:9068941
G TSPAN6 tetraspanin 6 JBrowse link X 82,323,634 82,328,919 RGD:9068941
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 14 7,223,209 7,254,813 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 67 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CUX2 cut like homeobox 2 JBrowse link 14 32,311,781 32,587,194 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 68 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRAK1 trafficking kinesin protein 1 JBrowse link 13 25,773,345 25,934,770 RGD:7240710
RGD:9068941
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 9 122,827,386 123,318,372 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 70 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PHACTR1 phosphatase and actin regulator 1 JBrowse link 7 9,105,422 9,666,886 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 71 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GLS glutaminase JBrowse link 15 95,513,414 95,606,029 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 72 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEUROD2 neuronal differentiation 2 JBrowse link 12 22,709,473 22,713,785 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 73 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RNF13 ring finger protein 13 JBrowse link 13 90,034,584 90,178,525 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 74 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRG2 gamma-aminobutyric acid type A receptor gamma2 subunit JBrowse link 16 61,441,622 61,543,375 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 75 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PARS2 prolyl-tRNA synthetase 2, mitochondrial JBrowse link 6 157,588,985 157,595,175 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 76 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTL6B actin like 6B JBrowse link 3 8,554,322 8,568,774 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 77 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q JBrowse link 3 41,164,399 41,177,453 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 78 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRA2 gamma-aminobutyric acid type A receptor alpha2 subunit JBrowse link 8 36,344,633 36,474,840 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 79 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRA5 gamma-aminobutyric acid type A receptor alpha5 subunit JBrowse link 1 140,486,107 140,568,204 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 80 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PIGB phosphatidylinositol glycan anchor biosynthesis class B JBrowse link 1 116,492,910 116,519,673 RGD:7240710
RGD:9068941
G PIGBOS1 PIGB opposite strand 1 JBrowse link 1 116,519,834 116,522,515 RGD:9068941
Early Infantile Epileptic Encephalopathy, 81 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DMXL2 Dmx like 2 JBrowse link 1 120,138,249 120,298,603 RGD:7240710
RGD:9068941
Early Infantile Epileptic Encephalopathy, 82 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GOT2 glutamic-oxaloacetic transaminase 2 JBrowse link 6 20,407,203 20,431,849 RGD:7240710
RGD:9068941
early myoclonic encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G JMJD1C jumonji domain containing 1C JBrowse link 14 66,640,845 66,966,911 RGD:9068941
G KCND2 potassium voltage-gated channel subfamily D member 2 JBrowse link 18 26,139,457 26,624,210 RGD:9068941
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 15 72,529,866 72,696,715 RGD:9068941
G SLC25A22 solute carrier family 25 member 22 JBrowse link 2 491,288 498,773 RGD:9068941
G TBC1D24 TBC1 domain family member 24 JBrowse link 3 39,545,688 39,572,320 RGD:9068941
EAST syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 4 90,341,316 90,371,040 RGD:9068941
G IGSF8 immunoglobulin superfamily member 8 JBrowse link 4 90,393,614 90,401,380 RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 4 90,421,956 90,457,406 RGD:7240710
RGD:9068941
G KCNJ9 potassium inwardly rectifying channel subfamily J member 9 JBrowse link 4 90,402,042 90,412,426 RGD:9068941
epilepsy with generalized tonic-clonic seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCHE butyrylcholinesterase JBrowse link 13 104,946,732 105,007,568 RGD:9068941
G BDNF brain derived neurotrophic factor JBrowse link 2 32,623,668 32,679,293 RGD:9068941
G CYP2D25 vitamin D3 25-Hydroxylase JBrowse link 5 6,539,021 6,543,643 RGD:9068941
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial JBrowse link 3 22,654,351 22,684,246 RGD:9068941
G FGF2 fibroblast growth factor 2 JBrowse link 8 101,278,877 101,344,084 RGD:9068941
G HBEGF heparin binding EGF like growth factor JBrowse link 2 142,102,455 142,115,192 RGD:9068941
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 JBrowse link 4 90,421,956 90,457,406 RGD:9068941
G LGI1 leucine rich glioma inactivated 1 JBrowse link 14 105,219,901 105,251,423 RGD:9068941
G LIG1 DNA ligase 1 JBrowse link 6 53,620,483 53,660,020 RGD:9068941
G MBD5 methyl-CpG binding domain protein 5 JBrowse link 15 3,649,859 4,096,459 RGD:9068941
G NES nestin JBrowse link 4 93,412,660 93,421,899 RGD:9068941
G NGF nerve growth factor JBrowse link 4 105,256,691 105,307,843 RGD:9068941
G NTF3 neurotrophin 3 JBrowse link 5 65,052,608 65,122,645 RGD:9068941
G OXT oxytocin/neurophysin I prepropeptide JBrowse link 17 32,605,586 32,606,449 RGD:9068941
G PCDH19 protocadherin 19 JBrowse link X 82,031,365 82,153,159 RGD:9068941
G POMC proopiomelanocortin JBrowse link 3 113,661,712 113,668,558 RGD:9068941
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 15 72,529,866 72,696,715 RGD:9068941
G SCN8A sodium voltage-gated channel alpha subunit 8 JBrowse link 5 16,977,468 17,173,831 RGD:9068941
G SLC25A24 solute carrier family 25 member 24 JBrowse link 4 111,580,186 111,632,390 RGD:9068941
G SPTAN1 spectrin alpha, non-erythrocytic 1 JBrowse link 1 268,936,120 269,002,261 RGD:9068941
Epilepsy, Benign Neonatal, 1, and/or Myokymia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 17 62,459,277 62,506,403 RGD:9068941
Epilepsy, Early-Onset, Vitamin B6-Dependent term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PLPBP pyridoxal phosphate binding protein JBrowse link 15 48,624,790 48,636,584 RGD:7240710
RGD:9068941
Epilepsy, Hearing Loss, and Mental Retardation Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPATA5 spermatogenesis associated 5 JBrowse link 8 100,918,331 101,241,099 RGD:7240710
RGD:9068941
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 5 23,015,777 23,035,943 RGD:9068941
G BECN1 beclin 1 JBrowse link 12 20,041,914 20,054,249 RGD:9068941
G DMD dystrophin JBrowse link X 27,028,223 29,650,728 RGD:9068941
G LOC100522678 cytochrome b-c1 complex subunit Rieske, mitochondrial JBrowse link 6 39,366,761 39,373,876 RGD:9068941
G LOC100739163 glutathione S-transferase P-like JBrowse link 2 4,978,761 4,982,233 RGD:9068941
G RASGRF1 Ras protein specific guanine nucleotide releasing factor 1 JBrowse link 7 48,121,415 48,246,749 RGD:9068941
G RGS10 regulator of G protein signaling 10 JBrowse link 14 129,386,717 129,424,150 RGD:9068941
G RGS4 regulator of G protein signaling 4 JBrowse link 4 87,383,336 87,390,478 RGD:9068941
G RGS7 regulator of G protein signaling 7 JBrowse link 10 11,950,897 12,322,382 RGD:9068941
G RGS8 regulator of G protein signaling 8 JBrowse link 9 123,937,721 124,053,927 RGD:9068941
G SV2A synaptic vesicle glycoprotein 2A JBrowse link 4 99,138,319 99,153,153 RGD:9068941
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNK4 potassium two pore domain channel subfamily K member 4 JBrowse link 2 7,817,062 7,824,390 RGD:7240710
RGD:9068941
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 4 20,143,614 20,570,780 RGD:7240710
RGD:9068941
Familial Adult Myoclonic Epilepsy, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G STARD7 StAR related lipid transfer domain containing 7 JBrowse link 3 46,992,708 47,017,668 RGD:7240710
RGD:9068941
Familial Adult Myoclonic Epilepsy, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MARCHF6 membrane associated ring-CH-type finger 6 JBrowse link 16 72,043,294 72,127,869 RGD:7240710
RGD:9068941
Familial Adult Myoclonic Epilepsy, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G YEATS2 YEATS domain containing 2 JBrowse link 13 121,637,823 121,746,131 RGD:7240710
RGD:9068941
Familial Adult Myoclonic Epilepsy, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CNTN2 contactin 2 JBrowse link 9 65,737,488 65,776,412 RGD:7240710
RGD:9068941
Familial Adult Myoclonic Epilepsy, 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TNRC6A trinucleotide repeat containing adaptor 6A RGD:7240710
RGD:9068941
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 8 48,183,518 48,277,476 RGD:7240710
RGD:9068941
familial encephalopathy with neuroserpin inclusion bodies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDCD10 programmed cell death 10 JBrowse link 13 106,517,408 106,558,959 RGD:9068941
G SERPINB7 serpin family B member 7 JBrowse link 1 157,953,872 157,999,242 RGD:9068941
G SERPINI1 serpin family I member 1 JBrowse link 13 106,559,326 106,636,930 RGD:7240710
RGD:9068941
familial febrile seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCN9A sodium voltage-gated channel alpha subunit 9 JBrowse link 15 72,745,706 72,912,352 RGD:9068941
familial febrile seizures 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADGRV1 adhesion G protein-coupled receptor V1 JBrowse link 2 97,703,648 98,277,847 RGD:9068941
G SCN9A sodium voltage-gated channel alpha subunit 9 JBrowse link 15 72,745,706 72,912,352 RGD:9068941
familial febrile seizures 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPA6 carboxypeptidase A6 JBrowse link 4 67,157,341 67,411,582 RGD:7240710
RGD:9068941
Familial Febrile Seizures 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCN1A sodium voltage-gated channel alpha subunit 1 JBrowse link 15 72,529,866 72,696,715 RGD:9068941
Familial Febrile Seizures 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCN9A sodium voltage-gated channel alpha subunit 9 JBrowse link 15 72,745,706 72,912,352 RGD:9068941
familial febrile seizures 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADGRV1 adhesion G protein-coupled receptor V1 JBrowse link 2 97,703,648 98,277,847 RGD:7240710
RGD:9068941
familial febrile seizures 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GABRG2 gamma-aminobutyric acid type A receptor gamma2 subunit JBrowse link 16 61,441,622 61,543,375 RGD:7240710
RGD:9068941
Familial Focal Epilepsy, with Variable Foci 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit JBrowse link 14 48,421,788 48,523,530 RGD:7240710
RGD:9068941
G NPRL2 NPR2 like, GATOR1 complex subunit JBrowse link 13 32,830,895 32,834,205 RGD:9068941
G NPRL3 NPR3 like, GATOR1 complex subunit JBrowse link 3 41,478,465 41,540,719 RGD:9068941
Familial Focal Epilepsy, with Variable Foci 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPRL2 NPR2 like, GATOR1 complex subunit JBrowse link 13 32,830,895 32,834,205 RGD:7240710
RGD:9068941
Familial Focal Epilepsy, with Variable Foci 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPRL3 NPR3 like, GATOR1 complex subunit JBrowse link 3 41,478,465 41,540,719 RGD:7240710
RGD:9068941
Familial Focal Epilepsy, 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 15 71,717,330 71,824,190 RGD:7240710
RGD:9068941
Familial Infantile Convulsions and Paroxysmal Choreoathetosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MVP major vault protein JBrowse link 3 18,056,548 18,081,169 RGD:9068941
G PRRT2 proline rich transmembrane protein 2 JBrowse link 3 18,048,614 18,052,481 RGD:7240710
RGD:9068941
Familial Temporal Epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPA6 carboxypeptidase A6 JBrowse link 4 67,157,341 67,411,582 RGD:9068941
familial temporal lobe epilepsy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LGI1 leucine rich glioma inactivated 1 JBrowse link 14 105,219,901 105,251,423 RGD:7240710
RGD:9068941
G MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 JBrowse link 1 75,511,692 75,522,760 RGD:9068941
G RELN reelin JBrowse link 9 103,460,855 103,963,728 RGD:9068941
familial temporal lobe epilepsy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CPA6 carboxypeptidase A6 JBrowse link 4 67,157,341 67,411,582 RGD:9068941
familial temporal lobe epilepsy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 JBrowse link 9 93,049,955 93,146,469 RGD:9068941
familial temporal lobe epilepsy 5 term browser
Symbol Object Name JBrowse Chr