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ONTOLOGY REPORT - ANNOTATIONS


Term:infancy electroclinical syndrome
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Accession:DOID:0050703 term browser browse the term
Definition:An electroclinical syndrome with onset in infancy occurring between birth and one year of age. (DO)
Synonyms:primary_id: RDO:9002462
 alt_id: RDO:9002707
For additional species annotation, visit the Alliance of Genome Resources.


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benign familial infantile epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:13592920
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:13592920
Benign Familial Infantile Seizures, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prrt2 proline-rich transmembrane protein 2 JBrowse link 1 198,451,042 198,454,998 RGD:7240710
RGD:8554872
Benign Familial Infantile Seizures, 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:8554872
RGD:11554173
Dravet syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrg2 gamma-aminobutyric acid type A receptor gamma 2 subunit JBrowse link 10 27,090,913 27,179,786 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
RGD:7240710
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
RGD:7240710
G Snx27 sorting nexin family member 27 JBrowse link 2 195,738,613 195,821,608 RGD:8554872
early infantile epileptic encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef15 Rho guanine nucleotide exchange factor 15 JBrowse link 10 55,532,097 55,545,675 RGD:8554872
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:13592920
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 JBrowse link 8 116,154,661 116,285,643 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:13592920
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:8554872
G Csrnp3 cysteine and serine rich nuclear protein 3 JBrowse link 3 51,883,559 52,120,290 RGD:8554872
G Cyb561d2 cytochrome b561 family, member D2 JBrowse link 8 116,295,328 116,297,879 RGD:8554872
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 3 176,657,104 176,666,282 RGD:8554872
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 JBrowse link 3 52,174,469 52,212,395 RGD:8554872
G Gnao1 G protein subunit alpha o1 JBrowse link 19 11,513,201 11,669,578 RGD:13592920
RGD:8554872
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 JBrowse link 2 50,099,576 50,499,799 RGD:8554872
G Kcnh5 potassium voltage-gated channel subfamily H member 5 JBrowse link 6 97,872,831 98,157,087 RGD:8554872
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:13592920
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P JBrowse link 11 34,592,128 34,598,253 RGD:8554872
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor JBrowse link 3 176,690,507 176,692,272 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
G Scn3a sodium voltage-gated channel alpha subunit 3 JBrowse link 3 51,530,897 51,643,140 RGD:8554872
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:13592920
RGD:8554872
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:8554872
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:8554872
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:8554872
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:8554872
RGD:13592920
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
G Szt2 SZT2, KICSTOR complex subunit JBrowse link 5 137,192,120 137,238,384 RGD:13592920
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:13592920
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
G Wdr34 WD repeat domain 34 JBrowse link 3 8,599,251 8,615,329 RGD:8554872
Early Infantile Epileptic Encephalopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:8554872
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:7240710
RGD:8554872
RGD:11565846
RGD:11565838
G Gabrb3 gamma-aminobutyric acid type A receptor beta 3 subunit JBrowse link 1 113,034,251 113,265,364 RGD:8554872
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 JBrowse link 2 50,099,576 50,499,799 RGD:11554173
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
G Plcb1 phospholipase C beta 1 JBrowse link 3 127,721,244 128,419,565 RGD:8554872
G Slc35a2 solute carrier family 35 member A2 JBrowse link X 15,453,184 15,461,990 RGD:8554872
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:8554872
Early Infantile Epileptic Encephalopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bend2 BEN domain containing 2 JBrowse link X 35,151,376 35,200,501 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
RGD:7240710
RGD:12791015
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872
G Rai2 retinoic acid induced 2 JBrowse link X 34,731,891 34,794,589 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
G Scml1 Scm polycomb group protein like 1 JBrowse link X 34,676,728 34,694,251 RGD:8554872
G Scml2 Scm polycomb group protein like 2 JBrowse link X 35,305,235 35,431,271 RGD:8554872
Early Infantile Epileptic Encephalopathy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Jmjd1c jumonji domain containing 1C JBrowse link 20 22,751,743 22,914,080 RGD:8554872
G Kcnd2 potassium voltage-gated channel subfamily D member 2 JBrowse link 4 48,309,283 48,816,804 RGD:8554872
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:7240710
RGD:8554872
RGD:12903960
RGD:11068998
Early Infantile Epileptic Encephalopathy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 JBrowse link X 64,249,576 64,428,444 RGD:7240710
RGD:8554872
early infantile epileptic encephalopathy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcdh19 protocadherin 19 JBrowse link X 104,387,346 104,493,914 RGD:7240710
RGD:8554872
G Srpx2 sushi-repeat-containing protein, X-linked 2 JBrowse link X 104,734,035 104,760,658 RGD:8554872
G Tnmd tenomodulin JBrowse link X 104,684,676 104,700,173 RGD:8554872
G Tspan6 tetraspanin 6 JBrowse link X 104,719,930 104,729,606 RGD:8554872
Early Infantile Epileptic Encephalopathy, 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy, 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plcb1 phospholipase C beta 1 JBrowse link 3 127,721,244 128,419,565 RGD:7240710
RGD:8554872
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:8554872
Early Infantile Epileptic Encephalopathy, 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy, 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnt1 potassium sodium-activated channel subfamily T member 1 JBrowse link 3 3,310,641 3,366,558 RGD:7240710
RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
Early Infantile Epileptic Encephalopathy, 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 5 136,765,309 136,965,642 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy, 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbc1d24 TBC1 domain family, member 24 JBrowse link 10 13,551,100 13,576,739 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy, 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnao1 G protein subunit alpha o1 JBrowse link 19 11,513,201 11,669,578 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy, 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Szt2 SZT2, KICSTOR complex subunit JBrowse link 5 137,192,120 137,238,384 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy, 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabra1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 10 27,310,718 27,371,802 RGD:8554872
RGD:7240710
Early Infantile Epileptic Encephalopathy, 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Necap1 NECAP endocytosis associated 1 JBrowse link 4 155,709,712 155,724,801 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy, 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dock7 dedicator of cytokinesis 7 JBrowse link 5 117,595,194 117,780,844 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy, 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 JBrowse link 2 50,099,576 50,499,799 RGD:8554872
RGD:7240710
Early Infantile Epileptic Encephalopathy, 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 JBrowse link 10 58,599,690 58,631,194 RGD:8554872
G LOC100912483 uncharacterized LOC100912483 JBrowse link 10 58,784,444 58,787,713 RGD:8554872
G Med31 mediator complex subunit 31 JBrowse link 10 58,780,987 58,784,369 RGD:8554872
G Pimreg PICALM interacting mitotic regulator JBrowse link 10 58,613,588 58,618,524 RGD:8554872
G Pitpnm3 PITPNM family member 3 JBrowse link 10 58,618,679 58,722,679 RGD:8554872
G RGD1304728 similar to 4933427D14Rik protein JBrowse link 10 58,726,721 58,776,718 RGD:8554872
G Slc13a5 solute carrier family 13 member 5 JBrowse link 10 58,806,581 58,835,549 RGD:8554872
RGD:7240710
G Txndc17 thioredoxin domain containing 17 JBrowse link 10 58,776,792 58,779,764 RGD:8554872
Early Infantile Epileptic Encephalopathy, 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnb1 potassium voltage-gated channel subfamily B member 1 JBrowse link 3 163,850,785 163,935,610 RGD:8554872
RGD:7240710
Early Infantile Epileptic Encephalopathy, 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:8554872
RGD:7240710
G Mbd5 methyl-CpG binding domain protein 5 JBrowse link 3 33,364,812 33,504,144 RGD:8554872
Early Infantile Epileptic Encephalopathy, 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:8554872
RGD:7240710
Early Infantile Epileptic Encephalopathy, 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy, 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sik1 salt-inducible kinase 1 JBrowse link 20 10,670,747 10,680,279 RGD:8554872
RGD:7240710
Early Infantile Epileptic Encephalopathy, 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ciz1 CDKN1A interacting zinc finger protein 1 JBrowse link 3 11,392,046 11,409,218 RGD:8554872
G Dnm1 dynamin 1 JBrowse link 3 11,338,081 11,382,043 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy, 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcna2 potassium voltage-gated channel subfamily A member 2 JBrowse link 2 209,838,607 209,852,471 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy, 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit JBrowse link 3 176,533,182 176,547,965 RGD:8554872
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 JBrowse link 3 176,657,104 176,666,282 RGD:7240710
RGD:8554872
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 JBrowse link 3 176,585,897 176,645,029 RGD:8554872
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor JBrowse link 3 176,690,507 176,692,272 RGD:8554872
Early Infantile Epileptic Encephalopathy, 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc12a5 solute carrier family 12 member 5 JBrowse link 3 161,433,303 161,465,078 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy, 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpa inosine triphosphatase JBrowse link 3 123,209,611 123,221,266 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy, 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg13 ALG13, UDP-N-acetylglucosaminyltransferase subunit JBrowse link X 115,561,329 115,589,792 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy, 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frrs1l ferric-chelate reductase 1-like JBrowse link 5 73,997,958 74,029,381 RGD:11554173
RGD:8554872
Early Infantile Epileptic Encephalopathy, 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arv1 ARV1 homolog, fatty acid homeostasis modulator JBrowse link 19 57,484,720 57,496,539 RGD:8554872
RGD:11554173
early infantile epileptic encephalopathy, 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc25a12 solute carrier family 25 member 12 JBrowse link 3 57,881,951 57,998,214 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy, 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Guf1 GUF1 homolog, GTPase JBrowse link 14 62,609,484 62,628,862 RGD:8554872
RGD:11554173
Early Infantile Epileptic Encephalopathy, 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc1a2 solute carrier family 1 member 2 JBrowse link 3 92,518,679 92,665,731 RGD:8554872
RGD:11554173
Early Infantile Epileptic Encephalopathy, 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:11554173
RGD:8554872
Early Infantile Epileptic Encephalopathy, 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrb3 gamma-aminobutyric acid type A receptor beta 3 subunit JBrowse link 1 113,034,251 113,265,364 RGD:8554872
RGD:11554173
Early Infantile Epileptic Encephalopathy, 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Uba5 ubiquitin-like modifier activating enzyme 5 JBrowse link 8 112,578,607 112,594,192 RGD:8554872
RGD:11554173
Early Infantile Epileptic Encephalopathy, 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrb1 gamma-aminobutyric acid type A receptor beta 1 subunit JBrowse link 14 38,631,192 39,112,598 RGD:8554872
RGD:11554173
Early Infantile Epileptic Encephalopathy, 46 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2d glutamate ionotropic receptor NMDA type subunit 2D JBrowse link 1 101,819,068 101,859,146 RGD:8554872
RGD:11554173
Early Infantile Epileptic Encephalopathy, 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf12 fibroblast growth factor 12 JBrowse link 11 75,606,360 76,171,078 RGD:8554872
RGD:11554173
Early Infantile Epileptic Encephalopathy, 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap3b2 adaptor related protein complex 3 subunit beta 2 JBrowse link 1 143,284,041 143,315,846 RGD:8554872
RGD:11554173
Early Infantile Epileptic Encephalopathy, 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dennd5a DENN domain containing 5A JBrowse link 1 174,524,047 174,588,553 RGD:8554872
RGD:11554173
Early Infantile Epileptic Encephalopathy, 50 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase JBrowse link 6 26,657,507 26,680,459 RGD:7240710
RGD:8554872
Early Infantile Epileptic Encephalopathy, 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mdh2 malate dehydrogenase 2 JBrowse link 12 23,941,451 23,954,406 RGD:8554872
RGD:11554173
Early Infantile Epileptic Encephalopathy, 52 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn1b sodium voltage-gated channel beta subunit 1 JBrowse link 1 89,550,738 89,560,469 RGD:8554872
RGD:11554173
Early Infantile Epileptic Encephalopathy, 53 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Synj1 synaptojanin 1 JBrowse link 11 31,105,784 31,181,573 RGD:11554173
RGD:8554872
Early Infantile Epileptic Encephalopathy, 54 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpu heterogeneous nuclear ribonucleoprotein U JBrowse link 13 96,222,093 96,238,845 RGD:8554872
RGD:11554173
Early Infantile Epileptic Encephalopathy, 60 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnpy3 canopy FGF signaling regulator 3 JBrowse link 9 16,543,715 16,558,441 RGD:8554872
Early Infantile Epileptic Encephalopathy, 61 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adam22 ADAM metallopeptidase domain 22 JBrowse link 4 22,864,485 23,002,969 RGD:8554872
Early Infantile Epileptic Encephalopathy, 62 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scn3a sodium voltage-gated channel alpha subunit 3 JBrowse link 3 51,530,897 51,643,140 RGD:8554872
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cplx1 complexin 1 JBrowse link 14 2,194,895 2,226,610 RGD:8554872
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rhobtb2 Rho-related BTB domain containing 2 JBrowse link 15 51,465,148 51,485,562 RGD:8554872
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyfip2 cytoplasmic FMR1 interacting protein 2 JBrowse link 10 31,278,746 31,419,235 RGD:8554872
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp3ca protein phosphatase 3 catalytic subunit alpha JBrowse link 2 241,909,332 242,186,861 RGD:8554872
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp3ca protein phosphatase 3 catalytic subunit alpha JBrowse link 2 241,909,332 242,186,861 RGD:8554872
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabrb2 gamma-aminobutyric acid type A receptor beta 2 subunit JBrowse link 10 27,973,694 28,193,072 RGD:8554872
infantile epileptic encephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm1 dynamin 1 JBrowse link 3 11,338,081 11,382,043 RGD:11557016
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:13592920
G Slc25a12 solute carrier family 25 member 12 JBrowse link 3 57,881,951 57,998,214 RGD:13592920
infantile epileptic encephalopathy 55 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigp phosphatidylinositol glycan anchor biosynthesis, class P JBrowse link 11 34,592,128 34,598,253 RGD:8554872
RGD:13592920
infantile epileptic encephalopathy 56 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma JBrowse link 12 23,789,547 23,817,884 RGD:13592920
RGD:8554872
infantile epileptic encephalopathy 57 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnt2 potassium sodium-activated channel subfamily T member 2 JBrowse link 13 57,130,855 57,520,263 RGD:13592920
infantile epileptic encephalopathy 58 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ntrk2 neurotrophic receptor tyrosine kinase 2 JBrowse link 17 5,934,651 6,245,778 RGD:8554872
infantile epileptic encephalopathy 59 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gabbr2 gamma-aminobutyric acid type B receptor subunit 2 JBrowse link 5 62,276,100 62,621,737 RGD:8554872
RGD:13592920
Microcephaly, Seizures, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnkp polynucleotide kinase 3'-phosphatase JBrowse link 1 100,853,475 100,859,202 RGD:7240710
RGD:8554872
Norrie disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd4 frizzled class receptor 4 JBrowse link 1 153,589,471 153,598,376 RGD:13592920
G Ndp NDP, norrin cystine knot growth factor JBrowse link X 6,791,090 6,815,586 RGD:7240710
RGD:8554872
G Tspan12 tetraspanin 12 JBrowse link 4 48,852,823 48,953,240 RGD:8554872
PEHO Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc88a coiled coil domain containing 88A JBrowse link 14 113,771,093 113,936,376 RGD:11554173
RGD:8554872
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8548849
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:8554872
G Znhit3 zinc finger, HIT-type containing 3 JBrowse link 10 72,227,710 72,235,932 RGD:8554872
RGD:11554173
West syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abat 4-aminobutyrate aminotransferase JBrowse link 10 7,093,406 7,200,439 RGD:9588540
G Arx aristaless related homeobox JBrowse link X 62,363,757 62,376,139 RGD:11565833
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
G Cfl1 cofilin 1 JBrowse link 1 220,869,805 220,873,337 RGD:11570411
G Crh corticotropin releasing hormone JBrowse link 2 104,459,999 104,461,863 RGD:11554173
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 JBrowse link 6 134,958,854 135,085,769 RGD:8554872
G Gad1 glutamate decarboxylase 1 JBrowse link 3 56,861,440 56,902,139 RGD:8554872
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:11554173
G Mc2r melanocortin 2 receptor JBrowse link 18 64,166,959 64,178,729 RGD:6484693
G Mllt1 MLLT1, super elongation complex subunit JBrowse link 9 10,110,389 10,155,305 RGD:8554872
G Pik3ap1 phosphoinositide-3-kinase adaptor protein 1 JBrowse link 1 260,527,344 260,679,132 RGD:8554872
G Plcb1 phospholipase C beta 1 JBrowse link 3 127,721,244 128,419,565 RGD:8554872
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog JBrowse link 3 11,811,303 11,817,007 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
G Scn8a sodium voltage-gated channel alpha subunit 8 JBrowse link 7 142,575,629 142,683,659 RGD:8554872
G Slc25a22 solute carrier family 25 member 22 JBrowse link 1 214,410,388 214,418,236 RGD:8554872
G Sptan1 spectrin, alpha, non-erythrocytic 1 JBrowse link 3 8,534,437 8,599,259 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:12903963
RGD:8554872
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 JBrowse link 1 101,293,300 101,323,484 RGD:8554872
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:11554173
G Tsc2 TSC complex subunit 2 JBrowse link 10 13,962,006 13,996,684 RGD:11554173
G Upb1 beta-ureidopropionase 1 JBrowse link 20 14,167,383 14,193,724 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14314
    syndrome 4612
      infancy electroclinical syndrome 123
        Dravet syndrome 4
        West syndrome + 123
        benign familial infantile epilepsy 2
Path 2
Term Annotations click to browse term
  disease 14314
    disease of anatomical entity 13524
      nervous system disease 8575
        central nervous system disease 5824
          brain disease 5302
            epilepsy 941
              electroclinical syndrome 252
                infancy electroclinical syndrome 123
                  Dravet syndrome 4
                  West syndrome + 123
                  benign familial infantile epilepsy 2
paths to the root