Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:developmental and epileptic encephalopathy
go back to main search page
Accession:DOID:0112202 term browser browse the term
Definition:An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood. (DO)
Synonyms:narrow_synonym: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY WITH JOINT LAXITY;   KCNA3-ASSOCIATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY;   RYR3-RELATED EPILEPTIC ENCEPHALOPATHY
 broad_synonym: RYR3-RELATED CONDITION;   TMEM63B-ASSOCIATED DISORDER
 xref: MIM:PS308350


GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
developmental and epileptic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd16b abhydrolase domain containing 16B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chrNW_004955528:391,749...395,181
Ensembl chrNW_004955528:391,749...395,181
JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:652,048...799,182
Ensembl chrNW_004955513:653,252...799,239
JBrowse link
G Adgrg1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,253,196...15,288,982
Ensembl chrNW_004955433:15,259,720...15,289,151
JBrowse link
G Adgrg3 adhesion G protein-coupled receptor G3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,290,538...15,317,020
Ensembl chrNW_004955433:15,290,394...15,319,361
JBrowse link
G Adgrg5 adhesion G protein-coupled receptor G5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,156,116...15,209,824
Ensembl chrNW_004955433:15,161,607...15,208,375
JBrowse link
G Adrm1 ADRM1 26S proteasome ubiquitin receptor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,753,450...1,759,886
Ensembl chrNW_004955528:1,753,450...1,759,886
JBrowse link
G Aif1l allograft inflammatory factor 1 like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:936,889...954,667
Ensembl chrNW_004955513:936,889...954,667
JBrowse link
G Ak1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955419:799,415...807,138
Ensembl chrNW_004955419:799,410...811,029
JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:2,069,187...2,185,469
Ensembl chrNW_004955513:2,065,004...2,185,404
JBrowse link
G Akr1a1 aldo-keto reductase family 1 member A1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:12,715,238...12,729,034
Ensembl chrNW_004955464:12,714,717...12,729,662
JBrowse link
G Amfr autocrine motility factor receptor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:14,172,871...14,205,484
Ensembl chrNW_004955433:14,172,808...14,212,110
JBrowse link
G Amigo3 adhesion molecule with Ig like domain 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:1,618,659...1,621,706
Ensembl chrNW_004955532:1,619,532...1,621,064
JBrowse link
G Angptl2 angiopoietin like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chrNW_004955419:1,417,773...1,450,199
Ensembl chrNW_004955419:1,417,476...1,451,025
JBrowse link
G Ano4 anoctamin 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 NCBI chrNW_004955405:36,350,013...36,715,740
Ensembl chrNW_004955405:36,375,115...36,715,889
JBrowse link
G Ano9 anoctamin 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,588,043...11,603,027
Ensembl chrNW_004955476:11,589,097...11,602,532
JBrowse link
G Ap2a2 adaptor related protein complex 2 subunit alpha 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,184,944...11,229,385
Ensembl chrNW_004955476:11,185,223...11,229,409
JBrowse link
G Apeh acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:1,580,473...1,590,274
Ensembl chrNW_004955532:1,580,553...1,590,138
JBrowse link
G Arfgap1 ARF GTPase activating protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:878,837...893,427
Ensembl chrNW_004955528:877,073...893,484
JBrowse link
G Arfrp1 ADP ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chrNW_004955528:519,887...529,012
Ensembl chrNW_004955528:519,887...529,012
JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23647072 PMID:25741868 More... NCBI chrNW_004955467:8,590,217...8,603,778
Ensembl chrNW_004955467:8,587,873...8,602,747
JBrowse link
G Arl2bp ARF like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:14,887,094...14,894,119 JBrowse link
G Armh1 armadillo like helical domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:13,501,662...13,552,953
Ensembl chrNW_004955464:13,498,362...13,533,888
JBrowse link
G Art1 ADP-ribosyltransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955414:19,465,969...19,487,859
Ensembl chrNW_004955414:19,465,336...19,489,433
JBrowse link
G Art5 ADP-ribosyltransferase 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955414:19,460,652...19,464,771
Ensembl chrNW_004955414:19,456,199...19,464,771
JBrowse link
G Artn artemin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chrNW_004955537:3,460,176...3,464,335
Ensembl chrNW_004955537:3,460,176...3,464,335
JBrowse link
G Asb6 ankyrin repeat and SOCS box containing 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,747,965...1,752,728
Ensembl chrNW_004955570:1,748,568...1,752,572
JBrowse link
G Ascl2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:14,051,140...14,053,521
Ensembl chrNW_004955422:14,051,140...14,053,521
JBrowse link
G Ass1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:443,372...485,190
Ensembl chrNW_004955513:445,462...485,190
JBrowse link
G Atp6v0b ATPase H+ transporting V0 subunit b ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chrNW_004955537:3,501,011...3,504,408
Ensembl chrNW_004955537:3,501,011...3,504,408
JBrowse link
G Aven apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy ClinVar NCBI chrNW_004955416:690,440...712,391 JBrowse link
G B4galnt4 beta-1,4-N-acetyl-galactosaminyltransferase 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,624,612...11,635,317
Ensembl chrNW_004955476:11,624,858...11,635,247
JBrowse link
G B4galt2 beta-1,4-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chrNW_004955537:3,506,836...3,516,436
Ensembl chrNW_004955537:3,505,596...3,516,436
JBrowse link
G Barhl1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:1,955,906...1,970,110
Ensembl chrNW_004955513:1,959,634...1,966,247
JBrowse link
G Bbln bublin coiled coil protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955570:709,009...712,573
Ensembl chrNW_004955570:708,747...712,573
JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:14,266,190...14,321,780
Ensembl chrNW_004955433:14,266,190...14,296,929
JBrowse link
G Best4 bestrophin 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:13,434,429...13,439,108
Ensembl chrNW_004955464:13,434,429...13,439,108
JBrowse link
G Bhlhe23 basic helix-loop-helix family member e23 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,094,234...1,094,674 JBrowse link
G Birc7 baculoviral IAP repeat containing 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:919,246...922,581
Ensembl chrNW_004955528:919,246...922,619
JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:10,911,515...10,951,544
Ensembl chrNW_004955476:10,911,515...10,929,183
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14981520 PMID:25741868 PMID:31369919 PMID:35290466 NCBI chrNW_004955599:505,725...514,225
Ensembl chrNW_004955599:507,501...514,151
JBrowse link
G Bsn bassoon presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:1,527,336...1,578,394
Ensembl chrNW_004955532:1,527,477...1,570,670
JBrowse link
G Btbd19 BTB domain containing 19 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:13,401,388...13,416,924
Ensembl chrNW_004955464:13,408,973...13,416,915
JBrowse link
G Cables2 Cdk5 and Abl enzyme substrate 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,656,475...1,674,632
Ensembl chrNW_004955528:1,574,870...1,672,496
JBrowse link
G Cacna1e calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:17660294 PMID:23934111 PMID:25741868 PMID:26680202 PMID:28135719 More... NCBI chrNW_004955406:20,356,564...20,824,679
Ensembl chrNW_004955406:20,510,954...20,816,678
JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 More... NCBI chrNW_004955532:2,163,529...2,283,509
Ensembl chrNW_004955532:2,163,529...2,283,508
JBrowse link
G Camkv CaM kinase like vesicle associated ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:1,747,359...1,762,978
Ensembl chrNW_004955532:1,747,359...1,760,110
JBrowse link
G Cars1 cysteinyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:14,685,356...14,738,420
Ensembl chrNW_004955422:14,682,178...14,738,428
JBrowse link
G Ccdc102a coiled-coil domain containing 102A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,138,379...15,150,041
Ensembl chrNW_004955433:15,138,289...15,157,149
JBrowse link
G Ccdc152 coiled-coil domain containing 152 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955426:26,899,303...26,950,428
Ensembl chrNW_004955426:26,899,303...26,950,423
JBrowse link
G Ccdc17 coiled-coil domain containing 17 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:12,661,440...12,667,388
Ensembl chrNW_004955464:12,662,596...12,665,957
JBrowse link
G Ccdc24 coiled-coil domain containing 24 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chrNW_004955537:3,516,502...3,520,559
Ensembl chrNW_004955537:3,517,132...3,520,219
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,052,616...15,054,732
Ensembl chrNW_004955433:15,053,061...15,054,572
JBrowse link
G Ccl22 C-C motif chemokine ligand 22 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,002,001...15,007,324
Ensembl chrNW_004955433:15,001,930...15,008,032
JBrowse link
G Ccl28 C-C motif chemokine ligand 28 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955446:18,902,465...18,925,178
Ensembl chrNW_004955446:18,902,636...18,925,561
JBrowse link
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,294,359...11,298,990
Ensembl chrNW_004955476:11,294,359...11,337,825
JBrowse link
G Cd81 CD81 molecule ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:14,155,682...14,175,181
Ensembl chrNW_004955422:14,155,682...14,175,181
JBrowse link
G Cdhr4 cadherin related family member 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:1,644,995...1,690,897
Ensembl chrNW_004955532:1,683,570...1,690,834
JBrowse link
G Cdhr5 cadherin related family member 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,435,677...11,442,338
Ensembl chrNW_004955476:11,435,642...11,442,873
JBrowse link
G Cdk9 cyclin dependent kinase 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955419:874,959...883,160
Ensembl chrNW_004955419:873,289...883,160
JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:32366967 NCBI chrNW_004955586:791,886...997,713
Ensembl chrNW_004955586:809,386...997,485
JBrowse link
G Cdkn1c cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:14,576,971...14,578,868 JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:2,324,025...2,382,877 JBrowse link
G Cend1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,339,586...11,341,996
Ensembl chrNW_004955476:11,339,586...11,341,996
JBrowse link
G Cercam cerebral endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955570:898,157...925,581
Ensembl chrNW_004955570:915,001...928,060
JBrowse link
G Cfap157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955419:942,147...950,968
Ensembl chrNW_004955419:942,270...950,922
JBrowse link
G Cfap20 cilia and flagella associated protein 20 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,648,529...15,663,308
Ensembl chrNW_004955433:15,648,099...15,663,502
JBrowse link
G Cfap263 cilia and flagella associated protein 263 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,750,921...15,775,466
Ensembl chrNW_004955433:15,750,897...15,779,371
JBrowse link
G Cfap77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:1,834,654...1,951,827
Ensembl chrNW_004955513:1,834,388...1,953,638
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar NCBI chrNW_004955416:21,085,570...21,210,321
Ensembl chrNW_004955416:21,085,570...21,210,321
JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,246,745...11,276,341
Ensembl chrNW_004955476:11,246,490...11,276,341
JBrowse link
G Chrna10 cholinergic receptor nicotinic alpha 10 subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955414:19,487,840...19,495,368
Ensembl chrNW_004955414:19,487,862...19,493,034
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9425895 PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 More... NCBI chrNW_004955528:825,314...840,994
Ensembl chrNW_004955528:825,308...841,270
JBrowse link
G Ciapin1 cytokine induced apoptosis inhibitor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,065,031...15,081,392
Ensembl chrNW_004955433:15,065,031...15,081,293
JBrowse link
G Cish cytokine inducible SH2 containing protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:2,380,380...2,386,000
Ensembl chrNW_004955532:2,378,088...2,386,000
JBrowse link
G Ciz1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955570:716,124...732,551
Ensembl chrNW_004955570:707,637...732,980
JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,467,042...15,556,471 JBrowse link
G Cnot1 CCR4-NOT transcription complex subunit 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,938,791...16,027,547
Ensembl chrNW_004955433:15,938,791...16,027,545
JBrowse link
G Col20a1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:847,416...878,741 JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,286,314...1,305,863 JBrowse link
G Coq4 coenzyme Q4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955570:837,216...846,653
Ensembl chrNW_004955570:837,216...846,653
JBrowse link
G Coq9 coenzyme Q9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,081,390...15,094,441
Ensembl chrNW_004955433:15,081,390...15,094,441
JBrowse link
G Cpne2 copine 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:14,766,247...14,808,916
Ensembl chrNW_004955433:14,769,798...14,808,916
JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,299,353...11,304,105
Ensembl chrNW_004955476:11,299,614...11,303,657
JBrowse link
G Crat carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,417,608...1,428,720
Ensembl chrNW_004955570:1,417,608...1,428,720
JBrowse link
G Csnk2a2 casein kinase 2 alpha 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,677,788...15,718,894
Ensembl chrNW_004955433:15,674,116...15,718,894
JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004955449:8,450,292...8,635,393
Ensembl chrNW_004955449:8,460,577...8,635,417
JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:13,576,315...13,584,267
Ensembl chrNW_004955422:13,576,202...13,584,298
JBrowse link
G CUNH3orf18 chromosome unknown C3orf18 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:2,339,628...2,349,324
Ensembl chrNW_004955532:2,339,628...2,348,026
JBrowse link
G CUNH5orf34 chromosome unknown C5orf34 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955446:18,837,488...18,862,396
Ensembl chrNW_004955446:18,841,517...18,862,814
JBrowse link
G CUNH9orf50 chromosome unknown C9orf50 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,731,774...1,737,757 JBrowse link
G CUNH9orf78 chromosome unknown C9orf78 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:38,060...43,450
Ensembl chrNW_004955513:38,060...43,450
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,023,272...15,034,650
Ensembl chrNW_004955433:15,023,050...15,034,711
JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312
JBrowse link
G Ddx31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:1,970,386...2,036,572
Ensembl chrNW_004955513:1,970,830...2,031,908
JBrowse link
G Deaf1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,398,187...11,422,633
Ensembl chrNW_004955476:11,398,448...11,423,654
JBrowse link
G Dido1 death inducer-obliterator 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,153,181...1,207,346
Ensembl chrNW_004955528:1,162,836...1,207,596
JBrowse link
G Dmap1 DNA methyltransferase 1 associated protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:13,984,748...13,993,411
Ensembl chrNW_004955464:13,982,713...13,993,410
JBrowse link
G Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chrNW_004955528:317,891...366,299
Ensembl chrNW_004955528:317,891...366,293
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955570:752,335...781,770
Ensembl chrNW_004955570:752,335...781,770
JBrowse link
G Dok4 docking protein 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,104,387...15,116,118
Ensembl chrNW_004955433:15,104,394...15,116,271
JBrowse link
G Dolk dolichol kinase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,310,894...1,312,952
Ensembl chrNW_004955570:1,311,056...1,312,672
JBrowse link
G Dolpp1 dolichyldiphosphatase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,407,700...1,415,813
Ensembl chrNW_004955570:1,407,700...1,415,813
JBrowse link
G Dph2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chrNW_004955537:3,496,688...3,500,147
Ensembl chrNW_004955537:3,496,688...3,500,147
JBrowse link
G Dpm2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955419:740,815...743,036
Ensembl chrNW_004955419:740,815...743,036
JBrowse link
G Drc7 dynein regulatory complex subunit 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,319,829...15,340,525
Ensembl chrNW_004955433:15,322,508...15,340,525
JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,424,347...11,426,962
Ensembl chrNW_004955476:11,424,411...11,426,960
JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:10,816,647...10,826,787
Ensembl chrNW_004955476:10,813,336...10,826,801
JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:22722545 PMID:24183449 PMID:24183451 PMID:28379358 PMID:28492532 More... NCBI chrNW_004955570:1,076,498...1,086,629
Ensembl chrNW_004955570:1,076,568...1,086,613
JBrowse link
G Dynlt4 dynein light chain Tctex-type 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:13,417,735...13,419,646
Ensembl chrNW_004955464:13,417,859...13,419,635
JBrowse link
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chrNW_004955528:717,338...726,383
Ensembl chrNW_004955528:717,338...729,692
JBrowse link
G Eeig1 estrogen-induced osteoclastogenesis regulator 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955419:707,850...738,763
Ensembl chrNW_004955419:707,847...736,339
JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:13,254,228...13,378,832
Ensembl chrNW_004955464:13,254,228...13,378,832
JBrowse link
G Elfn1 extracellular leucine rich repeat and fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Developmental and Epileptic Encephalopathy with Joint Laxity ClinVar PMID:24312227 PMID:34509675 NCBI chrNW_004955460:9,250,522...9,305,895
Ensembl chrNW_004955460:9,297,791...9,305,874
JBrowse link
G Endog endonuclease G ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,200,461...1,203,566
Ensembl chrNW_004955570:1,200,996...1,203,566
JBrowse link
G Eng endoglin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955419:818,797...853,319
Ensembl chrNW_004955419:818,932...852,694
JBrowse link
G Eps8l2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,371,928...11,390,588
Ensembl chrNW_004955476:11,372,571...11,389,804
JBrowse link
G Eri3 ERI1 exoribonuclease family member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:13,855,581...13,984,598
Ensembl chrNW_004955464:13,855,154...13,984,598
JBrowse link
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:639,798...648,360
Ensembl chrNW_004955513:639,731...651,418
JBrowse link
G Fam78a family with sequence similarity 78 member A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:1,060,145...1,073,817
Ensembl chrNW_004955513:1,060,020...1,073,817
JBrowse link
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955446:18,163,117...18,244,840
Ensembl chrNW_004955446:18,163,117...18,245,199
JBrowse link
G Fibcd1 fibrinogen C domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:810,927...835,106
Ensembl chrNW_004955513:808,056...835,112
JBrowse link
G Fnbp1 formin binding protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:86,004...137,631
Ensembl chrNW_004955513:85,038...137,705
JBrowse link
G Fndc11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chrNW_004955528:670,563...672,995
Ensembl chrNW_004955528:670,563...672,995
JBrowse link
G Fpgs folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955419:853,891...871,729
Ensembl chrNW_004955419:851,152...871,522
JBrowse link
G Fubp3 far upstream element binding protein 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:548,202...595,427
Ensembl chrNW_004955513:548,139...595,479
JBrowse link
G Gabra2 gamma-aminobutyric acid type A receptor subunit alpha2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:29422393 NCBI chrNW_004955443:2,042,202...2,176,589
Ensembl chrNW_004955443:2,042,151...2,179,174
JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004955449:8,365,951...8,406,988
Ensembl chrNW_004955449:8,379,164...8,406,988
JBrowse link
G Garnl3 GTPase activating Rap/RanGAP domain like 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chrNW_004955419:1,190,059...1,332,553
Ensembl chrNW_004955419:1,190,344...1,332,553
JBrowse link
G Gata5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,595,231...1,604,979
Ensembl chrNW_004955528:1,595,231...1,604,979
JBrowse link
G Gatd1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,350,827...11,354,844
Ensembl chrNW_004955476:11,350,821...11,354,844
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:2,273,267...2,281,850
Ensembl chrNW_004955513:2,277,981...2,281,515
JBrowse link
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955426:26,553,509...26,873,619
Ensembl chrNW_004955426:26,689,581...26,871,684
JBrowse link
G Gid8 GID complex subunit 8 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,146,313...1,153,093
Ensembl chrNW_004955528:1,146,313...1,153,093
JBrowse link
G Gins3 GINS complex subunit 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,843,025...15,864,942
Ensembl chrNW_004955433:15,842,991...15,863,677
JBrowse link
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955570:970,267...1,004,525
Ensembl chrNW_004955570:970,249...1,004,443
JBrowse link
G Gmeb2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chrNW_004955528:603,817...638,698
Ensembl chrNW_004955528:611,736...638,698
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:1,622,605...1,624,900
Ensembl chrNW_004955532:1,622,605...1,624,900
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:2,059,038...2,079,120
Ensembl chrNW_004955532:2,059,038...2,079,957
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:8521505 PMID:9108480 PMID:9536098 PMID:10419452 PMID:10615050 More... NCBI chrNW_004955433:14,004,813...14,170,631
Ensembl chrNW_004955433:14,004,813...14,172,707
JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:2,018,850...2,023,603
Ensembl chrNW_004955532:2,018,850...2,023,603
JBrowse link
G Golga2 golgin A2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955570:782,218...799,044 JBrowse link
G Got2 glutamic-oxaloacetic transaminase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:25741868 PMID:26518167 More... NCBI chrNW_004955433:16,121,795...16,145,129
Ensembl chrNW_004955433:16,122,824...16,145,113
JBrowse link
G Gpbp1l1 GC-rich promoter binding protein 1 like 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:12,601,373...12,659,687
Ensembl chrNW_004955464:12,632,328...12,658,958
JBrowse link
G Gpr107 G protein-coupled receptor 107 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:176,806...233,708
Ensembl chrNW_004955513:176,894...230,328
JBrowse link
G Gria3 glutamate ionotropic receptor AMPA type subunit 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 NCBI chrNW_004955473:11,283,642...11,574,836
Ensembl chrNW_004955473:11,281,379...11,574,907
JBrowse link
G Gtf3c4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:2,037,312...2,054,451
Ensembl chrNW_004955513:2,037,312...2,054,451
JBrowse link
G Gtf3c5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:2,304,133...2,320,977
Ensembl chrNW_004955513:2,304,133...2,321,597
JBrowse link
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:17931874 PMID:20437590 PMID:22131395 More... NCBI chrNW_004955446:17,146,915...17,457,843
Ensembl chrNW_004955446:17,151,311...17,457,888
JBrowse link
G Hectd3 HECT domain E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:13,230,534...13,238,953
Ensembl chrNW_004955464:13,230,534...13,238,953
JBrowse link
G Helz2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chrNW_004955528:652,381...666,923
Ensembl chrNW_004955528:652,543...668,744
JBrowse link
G Hemk1 HemK methyltransferase 1, mitochondrial release factors N(5)-glutamine ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:2,348,123...2,359,423 JBrowse link
G Herpud1 homocysteine inducible ER protein with ubiquitin like domain 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:14,609,275...14,621,774
Ensembl chrNW_004955433:14,608,375...14,621,839
JBrowse link
G Hmcn2 hemicentin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:303,490...434,207 JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955446:18,978,261...18,996,794
Ensembl chrNW_004955446:18,978,102...18,998,951
JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:12,936,996...12,940,050 JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333
JBrowse link
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:2,113,016...2,116,093
Ensembl chrNW_004955532:2,112,771...2,115,952
JBrowse link
G Hyal2 hyaluronidase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:2,120,781...2,125,083
Ensembl chrNW_004955532:2,120,781...2,123,726
JBrowse link
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:2,107,019...2,112,356
Ensembl chrNW_004955532:2,106,565...2,108,892
JBrowse link
G Ier5l immediate early response 5 like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,479,582...1,482,281
Ensembl chrNW_004955570:1,480,851...1,482,098
JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:13,556,968...13,572,010
Ensembl chrNW_004955422:13,557,416...13,573,715
JBrowse link
G Ifitm5 interferon induced transmembrane protein 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,745,585...11,747,006
Ensembl chrNW_004955476:11,745,585...11,747,006
JBrowse link
G Ifrd2 interferon related developmental regulator 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:2,101,202...2,106,779
Ensembl chrNW_004955532:2,101,202...2,104,104
JBrowse link
G Igf2 insulin like growth factor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
JBrowse link
G Inka1 inka box actin regulator 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:1,695,956...1,697,521
Ensembl chrNW_004955532:1,695,956...1,697,485
JBrowse link
G Ins insulin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419
JBrowse link
G Ip6k1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:1,625,298...1,644,973
Ensembl chrNW_004955532:1,625,298...1,644,973
JBrowse link
G Ipo13 importin 13 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chrNW_004955537:3,472,866...3,494,552
Ensembl chrNW_004955537:3,472,866...3,494,552
JBrowse link
G Ipp intracisternal A particle-promoted polypeptide ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:12,562,824...12,589,976
Ensembl chrNW_004955464:12,562,756...12,589,939
JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,442,781...11,445,706
Ensembl chrNW_004955476:11,443,272...11,445,657
JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:26224535 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Katnb1 katanin regulatory subunit B1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,345,246...15,365,986
Ensembl chrNW_004955433:15,345,246...15,366,039
JBrowse link
G Kcna3 potassium voltage-gated channel subfamily A member 3 ISO ClinVar Annotator: match by term: KCNA3-associated developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:37964487 NCBI chrNW_004955435:14,132,877...14,148,911
Ensembl chrNW_004955435:14,147,454...14,148,926
JBrowse link
G Kcnb1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:31600826 PMID:32954514 NCBI chrNW_004955445:8,680,979...8,779,662
Ensembl chrNW_004955445:8,680,965...8,774,110
JBrowse link
G Kcnc2 potassium voltage-gated channel subfamily C member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar NCBI chrNW_004955405:14,420,447...14,599,780
Ensembl chrNW_004955405:14,422,396...14,600,341
JBrowse link
G Kcnh5 potassium voltage-gated channel subfamily H member 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23647072 PMID:24133262 More... NCBI chrNW_004955466:6,704,431...7,042,727
Ensembl chrNW_004955466:6,704,364...7,040,734
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:14,212,563...14,544,556
Ensembl chrNW_004955422:14,212,553...14,544,556
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy
ClinVar PMID:2753503 PMID:2847176 PMID:3360469 PMID:4055306 PMID:9425895 More... NCBI chrNW_004955528:737,416...792,885
Ensembl chrNW_004955528:737,416...791,321
JBrowse link
G Kif2c kinesin family member 2C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:13,453,637...13,475,447
Ensembl chrNW_004955464:13,453,217...13,475,322
JBrowse link
G Kifc3 kinesin family member C3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,365,944...15,428,502
Ensembl chrNW_004955433:15,366,106...15,428,660
JBrowse link
G Klf17 KLF transcription factor 17 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955537:3,637,825...3,648,078 JBrowse link
G Kyat1 kynurenine aminotransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,211,950...1,260,561
Ensembl chrNW_004955570:1,211,160...1,254,303
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,713,110...1,753,374
Ensembl chrNW_004955528:1,713,125...1,753,116
JBrowse link
G Lamc3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:872,301...934,234
Ensembl chrNW_004955513:881,092...934,458
JBrowse link
G Lime1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chrNW_004955528:490,319...492,943
Ensembl chrNW_004955528:490,471...491,688
JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,487,918...11,493,281
Ensembl chrNW_004955476:11,489,481...11,493,923
JBrowse link
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chrNW_004955419:1,782,566...1,857,375
Ensembl chrNW_004955419:1,782,566...1,857,375
JBrowse link
G LOC102004854 cytochrome b561 domain-containing protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 More... NCBI chrNW_004955532:2,140,745...2,155,258
Ensembl chrNW_004955532:2,140,745...2,155,258
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,493,299...11,507,022
Ensembl chrNW_004955476:11,491,688...11,506,700
JBrowse link
G Lrrc8a leucine rich repeat containing 8 VRAC subunit A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,270,710...1,295,658
Ensembl chrNW_004955570:1,271,131...1,295,773
JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chrNW_004955419:1,121,127...1,154,356
Ensembl chrNW_004955419:1,121,127...1,154,356
JBrowse link
G Lsmem2 leucine rich single-pass membrane protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:2,096,231...2,101,541
Ensembl chrNW_004955532:2,096,770...2,100,876
JBrowse link
G Lsp1 lymphocyte specific protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:13,664,594...13,697,682
Ensembl chrNW_004955422:13,664,129...13,700,126
JBrowse link
G Mapkapk3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:2,392,539...2,419,219
Ensembl chrNW_004955532:2,392,539...2,420,604
JBrowse link
G Mast2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:12,264,252...12,459,061
Ensembl chrNW_004955464:12,264,252...12,459,124
JBrowse link
G Mast3 microtubule associated serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:34185323 NCBI chrNW_004955524:3,246,110...3,263,576
Ensembl chrNW_004955524:3,246,028...3,265,742
JBrowse link
G Miga2 mitoguardin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,387,006...1,402,996
Ensembl chrNW_004955570:1,387,013...1,402,996
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:12,774,018...12,780,612
Ensembl chrNW_004955464:12,772,420...12,780,612
JBrowse link
G Mmp15 matrix metallopeptidase 15 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,584,206...15,603,162
Ensembl chrNW_004955433:15,584,780...15,601,739
JBrowse link
G Mob2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:10,840,727...10,906,726
Ensembl chrNW_004955476:10,840,718...10,910,265
JBrowse link
G Mon1a MON1 homolog A, secretory trafficking associated ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:1,793,233...1,811,675
Ensembl chrNW_004955532:1,790,929...1,812,125
JBrowse link
G Mrgbp MRG domain binding protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,320,061...1,324,094 JBrowse link
G Mrgpre MAS related GPR family member E ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:14,976,730...14,982,295 JBrowse link
G Mrgprg MAS related GPR family member G ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:14,962,676...14,967,828 JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:13,735,603...13,743,575 JBrowse link
G Mrps30 mitochondrial ribosomal protein S30 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955446:17,847,599...17,854,544
Ensembl chrNW_004955446:17,847,676...17,854,544
JBrowse link
G Mst1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:1,590,685...1,595,655
Ensembl chrNW_004955532:1,590,755...1,595,148
JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:1,774,726...1,789,662
Ensembl chrNW_004955532:1,775,033...1,787,990
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,108,826...11,135,697
Ensembl chrNW_004955476:11,108,826...11,135,697
JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,061,405...11,084,294 JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,021,665...11,049,239 JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,165,423...11,184,674 JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:12,927,669...12,936,894
Ensembl chrNW_004955464:12,933,497...12,938,468
JBrowse link
G Naa80 N-alpha-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:2,109,595...2,112,013
Ensembl chrNW_004955532:2,110,133...2,110,744
JBrowse link
G Naif1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955419:656,311...661,928
Ensembl chrNW_004955419:656,275...661,928
JBrowse link
G Nap1l4 nucleosome assembly protein 1 like 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:14,630,858...14,673,171
Ensembl chrNW_004955422:14,628,371...14,673,165
JBrowse link
G Nasp nuclear autoantigenic sperm protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:12,667,050...12,697,021
Ensembl chrNW_004955464:12,667,050...12,697,769
JBrowse link
G Ncs1 neuronal calcium sensor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:268,979...289,385 JBrowse link
G Ndrg4 NDRG family member 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,914,884...15,933,000
Ensembl chrNW_004955433:15,914,823...15,933,659
JBrowse link
G Niban2 niban apoptosis regulator 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chrNW_004955419:1,089,602...1,119,620
Ensembl chrNW_004955419:1,072,243...1,119,620
JBrowse link
G Nkain4 sodium/potassium transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:903,195...917,522
Ensembl chrNW_004955528:903,176...918,903
JBrowse link
G Nlrc5 NLR family CARD domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:14,670,273...14,752,739
Ensembl chrNW_004955433:14,670,207...14,751,782
JBrowse link
G Nnt nicotinamide nucleotide transhydrogenase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955446:18,685,511...18,778,024
Ensembl chrNW_004955446:18,685,516...18,778,024
JBrowse link
G Nprl2 NPR2 like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 PMID:30410802 NCBI chrNW_004955532:2,148,950...2,152,671
Ensembl chrNW_004955532:2,148,950...2,152,671
JBrowse link
G Ntmt1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,730,407...1,747,813
Ensembl chrNW_004955570:1,744,716...1,747,813
JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:1,654,398...1,701,062 JBrowse link
G Ntsr1 neurotensin receptor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,348,616...1,394,798
Ensembl chrNW_004955528:1,348,555...1,394,868
JBrowse link
G Nudt21 nudix hydrolase 21 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:14,220,356...14,234,423
Ensembl chrNW_004955433:14,216,974...14,234,611
JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,312,998...1,369,513
Ensembl chrNW_004955570:1,312,998...1,369,513
JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:955,639...1,038,912 JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:14,408,079...14,533,292
Ensembl chrNW_004955433:14,407,962...14,535,500
JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955414:19,499,577...19,607,075
Ensembl chrNW_004955414:19,499,406...19,607,075
JBrowse link
G Odf2 outer dense fiber of sperm tails 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955570:932,002...966,602
Ensembl chrNW_004955570:932,041...968,012
JBrowse link
G Ogfod1 2-oxoglutarate and iron dependent oxygenase domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:14,234,469...14,260,211
Ensembl chrNW_004955433:14,234,636...14,260,211
JBrowse link
G Ogfr opioid growth factor receptor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,310,394...1,316,748
Ensembl chrNW_004955528:1,310,712...1,317,693
JBrowse link
G Osbpl5 oxysterol binding protein like 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:14,871,578...14,928,935
Ensembl chrNW_004955422:14,868,633...14,930,415
JBrowse link
G Paip1 poly(A) binding protein interacting protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955446:18,801,971...18,830,816
Ensembl chrNW_004955446:18,801,578...18,831,963
JBrowse link
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955414:19,607,180...19,630,010
Ensembl chrNW_004955414:19,607,180...19,630,010
JBrowse link
G Phlda2 pleckstrin homology like domain family A member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:14,617,794...14,619,595
Ensembl chrNW_004955422:14,617,794...14,619,595
JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,446,194...11,476,892
Ensembl chrNW_004955476:11,446,376...11,477,530
JBrowse link
G Phyhd1 phytanoyl-CoA dioxygenase domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,298,243...1,308,230
Ensembl chrNW_004955570:1,298,069...1,307,940
JBrowse link
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,325,877...11,331,447
Ensembl chrNW_004955476:11,326,626...11,331,360
JBrowse link
G Pigp phosphatidylinositol glycan anchor biosynthesis class P ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:28334793 PMID:28492532 PMID:31139695 PMID:32042915 NCBI chrNW_004955407:36,178,323...36,185,317 JBrowse link
G Pip5kl1 phosphatidylinositol-4-phosphate 5-kinase like 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955419:745,400...753,819
Ensembl chrNW_004955419:745,344...753,819
JBrowse link
G Pkn3 protein kinase N3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,121,803...1,131,296
Ensembl chrNW_004955570:1,121,803...1,133,280
JBrowse link
G Pkp3 plakophilin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,611,240...11,619,210
Ensembl chrNW_004955476:11,611,240...11,619,780
JBrowse link
G Plk3 polo like kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:13,419,562...13,424,104
Ensembl chrNW_004955464:13,419,562...13,424,104
JBrowse link
G Pllp plasmolipin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:14,896,087...14,915,794
Ensembl chrNW_004955433:14,896,087...14,915,794
JBrowse link
G Plpp7 phospholipid phosphatase 7 (inactive) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:1,081,748...1,092,025
Ensembl chrNW_004955513:1,076,524...1,092,025
JBrowse link
G Pnpla2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,304,660...11,309,755
Ensembl chrNW_004955476:11,303,843...11,309,181
JBrowse link
G Polr2c RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,096,324...15,104,435
Ensembl chrNW_004955433:15,096,324...15,111,846
JBrowse link
G Polr2l RNA polymerase II, I and III subunit L ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,291,215...11,293,536
Ensembl chrNW_004955476:11,291,215...11,293,536
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:12,076,815...12,086,961
Ensembl chrNW_004955464:12,077,406...12,086,700
JBrowse link
G Pomt1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:1,189,169...1,203,933
Ensembl chrNW_004955513:1,189,169...1,203,933
JBrowse link
G Ppdpf pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chrNW_004955528:701,182...718,037 JBrowse link
G Prdm12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:612,566...627,848
Ensembl chrNW_004955513:612,566...627,323
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:12,761,390...12,773,413
Ensembl chrNW_004955464:12,761,401...12,773,146
JBrowse link
G Prrc2b proline rich coiled-coil 2B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:1,137,099...1,187,724
Ensembl chrNW_004955513:1,138,292...1,183,665
JBrowse link
G Prss54 serine protease 54 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,775,492...15,788,128
Ensembl chrNW_004955433:15,775,880...15,788,524
JBrowse link
G Psme3ip1 proteasome activator subunit 3 interacting protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:14,813,688...14,843,446
Ensembl chrNW_004955433:14,813,688...14,843,223
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:13,387,844...13,403,991
Ensembl chrNW_004955464:13,387,844...13,403,991
JBrowse link
G Ptdss2 phosphatidylserine synthase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,554,962...11,585,574
Ensembl chrNW_004955476:11,554,962...11,581,906
JBrowse link
G Ptges prostaglandin E synthase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955445:10,053,745...10,056,981 JBrowse link
G Ptges2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955419:608,313...612,813
Ensembl chrNW_004955419:608,365...612,479
JBrowse link
G Ptk6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chrNW_004955528:687,996...695,596
Ensembl chrNW_004955528:687,996...695,596
JBrowse link
G Ptpa protein phosphatase 2 phosphatase activator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,429,316...1,454,820
Ensembl chrNW_004955570:1,429,316...1,455,562
JBrowse link
G Ptrh1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955419:940,508...942,375
Ensembl chrNW_004955419:940,508...942,375
JBrowse link
G Qrfp pyroglutamylated RFamide peptide ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:802,809...805,835
Ensembl chrNW_004955513:803,630...804,034
JBrowse link
G Ralgps1 Ral GEF with PH domain and SH3 binding motif 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chrNW_004955419:1,334,627...1,593,828
Ensembl chrNW_004955419:1,334,627...1,594,192
JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:1,224,418...1,328,176
Ensembl chrNW_004955513:1,226,205...1,315,922
JBrowse link
G Rassf1 Ras association domain family member 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:2,132,892...2,142,106
Ensembl chrNW_004955532:2,132,822...2,142,106
JBrowse link
G Rassf7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,485,308...11,487,840
Ensembl chrNW_004955476:11,482,654...11,488,413
JBrowse link
G Rbbp8nl RBBP8 N-terminal like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,641,291...1,655,920
Ensembl chrNW_004955528:1,647,199...1,653,035
JBrowse link
G Rbm5 RNA binding motif protein 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:1,929,540...1,957,297
Ensembl chrNW_004955532:1,929,043...1,956,812
JBrowse link
G Rbm6 RNA binding motif protein 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:1,811,794...1,914,551
Ensembl chrNW_004955532:1,811,794...1,916,328
JBrowse link
G Rhog ras homolog family member G ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955414:19,630,564...19,641,722
Ensembl chrNW_004955414:19,630,564...19,641,550
JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:1,595,970...1,622,633
Ensembl chrNW_004955532:1,596,080...1,625,672
JBrowse link
G Rnf220 ring finger protein 220 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:13,579,828...13,795,266
Ensembl chrNW_004955464:13,580,742...13,801,837
JBrowse link
G Rnh1 ribonuclease/angiogenin inhibitor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,543,006...11,549,391
Ensembl chrNW_004955476:11,536,378...11,549,205
JBrowse link
G Rpl12 ribosomal protein L12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chrNW_004955419:1,154,397...1,157,508
Ensembl chrNW_004955419:1,154,397...1,157,500
JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,312,051...11,314,334 JBrowse link
G Rps21 ribosomal protein S21 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,674,744...1,676,114
Ensembl chrNW_004955528:1,674,744...1,676,947
JBrowse link
G Rps8 ribosomal protein S8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:13,443,580...13,445,391
Ensembl chrNW_004955464:13,443,631...13,445,389
JBrowse link
G Rspry1 ring finger and SPRY domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:14,843,521...14,884,083
Ensembl chrNW_004955433:14,843,671...14,884,742
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chrNW_004955528:531,680...578,003
Ensembl chrNW_004955528:532,385...572,398
JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955416:712,506...1,260,111
Ensembl chrNW_004955416:713,373...1,259,885
JBrowse link
G Samd10 sterile alpha motif domain containing 10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:279,481...284,386
Ensembl chrNW_004955528:281,932...284,386
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: KCNA3-associated developmental and epileptic encephalopathy
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy
ClinVar PMID:1868258 PMID:1893099 PMID:9126059 PMID:9536098 PMID:9573403 More... NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:15048894 PMID:15133511 PMID:16865694 PMID:17021166 PMID:17347258 More... NCBI chrNW_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200
JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:10051516 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 More... NCBI chrNW_004955449:8,896,454...9,009,304
Ensembl chrNW_004955449:8,896,454...9,009,304
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy
ClinVar PMID:9536098 PMID:12374766 PMID:15525788 PMID:15800189 PMID:16199547 More... NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004955449:7,858,156...8,017,569
Ensembl chrNW_004955449:7,923,801...8,017,569
JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,433,857...11,434,662
Ensembl chrNW_004955476:11,433,969...11,434,574
JBrowse link
G Selenop selenoprotein P ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955426:26,951,003...26,961,839 JBrowse link
G Sema3b semaphorin 3B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:2,083,457...2,093,327
Ensembl chrNW_004955532:2,085,319...2,093,499
JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:1,992,417...2,015,879
Ensembl chrNW_004955532:1,988,486...2,017,170
JBrowse link
G Set SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,104,447...1,117,682 JBrowse link
G Setd6 SET domain containing 6, protein lysine methyltransferase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,934,091...15,937,738
Ensembl chrNW_004955433:15,934,089...15,937,738
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021
JBrowse link
G Sh2d3c SH2 domain containing 3C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955419:891,133...921,062
Ensembl chrNW_004955419:891,133...921,062
JBrowse link
G Sh3glb2 SH3 domain containing GRB2 like, endophilin B2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,370,106...1,379,405
Ensembl chrNW_004955570:1,370,106...1,379,408
JBrowse link
G Sigirr single Ig and TIR domain containing ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,603,375...11,610,606
Ensembl chrNW_004955476:11,603,381...11,610,571
JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:14,553,752...14,588,317
Ensembl chrNW_004955433:14,553,758...14,587,602
JBrowse link
G Slc17a9 solute carrier family 17 member 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,124,430...1,139,476
Ensembl chrNW_004955528:1,124,437...1,139,476
JBrowse link
G Slc22a18 solute carrier family 22 member 18 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:14,590,588...14,615,898
Ensembl chrNW_004955422:14,592,250...14,616,890
JBrowse link
G Slc25a22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:15592994 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chrNW_004955476:11,334,508...11,338,781
Ensembl chrNW_004955476:11,334,507...11,338,835
JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955419:621,445...656,172
Ensembl chrNW_004955419:618,979...656,189
JBrowse link
G Slc27a4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955570:853,856...866,383
Ensembl chrNW_004955570:853,849...866,383
JBrowse link
G Slc2a4rg SLC2A4 regulator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chrNW_004955528:485,653...488,923
Ensembl chrNW_004955528:486,140...488,920
JBrowse link
G Slc2a8 solute carrier family 2 member 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chrNW_004955419:1,177,752...1,187,157
Ensembl chrNW_004955419:1,177,059...1,187,110
JBrowse link
G Slc32a1 solute carrier family 32 member 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:36073542 NCBI chrNW_004955445:18,033,128...18,038,002
Ensembl chrNW_004955445:18,032,932...18,038,216
JBrowse link
G Slc38a3 solute carrier family 38 member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:2,023,694...2,046,556
Ensembl chrNW_004955532:2,023,694...2,050,708
JBrowse link
G Slc38a7 solute carrier family 38 member 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:16,086,747...16,100,185
Ensembl chrNW_004955433:16,086,510...16,101,184
JBrowse link
G Slc6a9 solute carrier family 6 member 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chrNW_004955537:3,520,516...3,549,492
Ensembl chrNW_004955537:3,520,516...3,550,022
JBrowse link
G Slco4a1 solute carrier organic anion transporter family member 4A1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,436,058...1,449,178
Ensembl chrNW_004955528:1,436,009...1,455,940
JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:15044754 PMID:15834421 PMID:25381298 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955415:20,133,361...20,218,840
Ensembl chrNW_004955415:20,133,201...20,219,023
JBrowse link
G Sox18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:204,729...206,772 JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:2,184,878...2,196,367
Ensembl chrNW_004955513:2,185,754...2,196,323
JBrowse link
G Spmip8 sperm microtubule inner protein 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,551,435...15,558,054
Ensembl chrNW_004955433:15,551,428...15,558,152
JBrowse link
G Spout1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,202,987...1,211,052
Ensembl chrNW_004955570:1,204,040...1,211,020
JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18469812 More... NCBI chrNW_004955570:1,016,510...1,076,499
Ensembl chrNW_004955570:1,016,510...1,076,499
JBrowse link
G Srms src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chrNW_004955528:677,332...685,903
Ensembl chrNW_004955528:677,628...684,340
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19763152 More... NCBI chrNW_004955537:3,258,076...3,458,742
Ensembl chrNW_004955537:3,258,076...3,458,742
JBrowse link
G St6galnac4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955419:756,768...764,897
Ensembl chrNW_004955419:756,747...764,897
JBrowse link
G St6galnac6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955419:771,721...792,756
Ensembl chrNW_004955419:772,837...796,724
JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955414:19,652,990...19,849,353
Ensembl chrNW_004955414:19,652,990...19,847,964
JBrowse link
G Stmn3 stathmin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chrNW_004955528:577,536...583,850
Ensembl chrNW_004955528:577,536...583,850
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy
ClinVar Annotator: match by term: Developmental and Epileptic Encephalopathy with Joint Laxity | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18469812 More... NCBI chrNW_004955419:963,829...1,000,759
Ensembl chrNW_004955419:963,829...1,000,759
JBrowse link
G Swi5 SWI5 homologous recombination repair protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955570:799,332...808,368
Ensembl chrNW_004955570:799,332...808,368
JBrowse link
G Syt8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:13,642,933...13,648,351
Ensembl chrNW_004955422:13,642,780...13,648,262
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955537:2,968,839...3,017,863
Ensembl chrNW_004955537:2,968,839...3,017,863
JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,356,601...11,364,573
Ensembl chrNW_004955476:11,356,603...11,364,259
JBrowse link
G Tbc1d13 TBC1 domain family member 13 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,180,154...1,192,525
Ensembl chrNW_004955570:1,180,179...1,190,517
JBrowse link
G Tcfl5 transcription factor like 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:1,269,387...1,286,124 JBrowse link
G Tesk2 testis associated actin remodelling kinase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:12,789,493...12,924,077
Ensembl chrNW_004955464:12,815,226...12,924,930
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:13,943,590...13,951,102
Ensembl chrNW_004955422:13,943,552...13,951,137
JBrowse link
G Tmem115 transmembrane protein 115 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 PMID:30410802 NCBI chrNW_004955532:2,155,885...2,161,499
Ensembl chrNW_004955532:2,155,885...2,161,016
JBrowse link
G Tmem267 transmembrane protein 267 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955446:18,865,735...18,888,356
Ensembl chrNW_004955446:18,879,661...18,888,220
JBrowse link
G Tmem53 transmembrane protein 53 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:13,552,963...13,577,528
Ensembl chrNW_004955464:13,552,922...13,577,528
JBrowse link
G Tmem63b transmembrane protein 63B ISO ClinVar Annotator: match by term: TMEM63B-associated disorder ClinVar PMID:25741868 PMID:37421948 NCBI chrNW_004955437:9,769,352...9,789,517
Ensembl chrNW_004955437:9,769,352...9,791,136
JBrowse link
G Tmem69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:12,594,544...12,602,137
Ensembl chrNW_004955464:12,594,788...12,597,711
JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,391,338...11,397,819 JBrowse link
G Tnfrsf6b TNF receptor superfamily member 6b ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chrNW_004955528:529,817...531,577 JBrowse link
G Tnk2 tyrosine kinase non receptor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 NCBI chrNW_004955420:12,302,463...12,337,976
Ensembl chrNW_004955420:12,300,572...12,338,058
JBrowse link
G Tnni2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:13,649,827...13,652,342
Ensembl chrNW_004955422:13,650,515...13,652,247
JBrowse link
G Tnnt3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:13,702,015...13,718,915
Ensembl chrNW_004955422:13,702,015...13,718,915
JBrowse link
G Toe1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:12,924,185...12,927,567
Ensembl chrNW_004955464:12,924,191...12,927,567
JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:10,987,223...11,009,134
Ensembl chrNW_004955476:10,987,223...11,010,808
JBrowse link
G Tor1a torsin family 1 member A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:30,655...36,299
Ensembl chrNW_004955513:30,655...36,360
JBrowse link
G Tor1b torsin family 1 member B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:23,118...29,401
Ensembl chrNW_004955513:23,118...29,401
JBrowse link
G Tor2a torsin family 2 member A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955419:922,901...926,624
Ensembl chrNW_004955419:922,901...926,624
JBrowse link
G Tpd52l2 TPD52 like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chrNW_004955528:371,761...389,714
Ensembl chrNW_004955528:371,761...389,705
JBrowse link
G Traip TRAF interacting protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:1,725,608...1,746,690
Ensembl chrNW_004955532:1,726,061...1,746,591
JBrowse link
G Trpm5 transient receptor potential cation channel subfamily M member 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:14,180,067...14,202,041
Ensembl chrNW_004955422:14,180,475...14,196,955
JBrowse link
G Trub2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955570:826,776...837,116
Ensembl chrNW_004955570:814,725...837,116
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:2,197,037...2,244,992
Ensembl chrNW_004955513:2,197,037...2,244,992
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:12,089,589...12,095,000
Ensembl chrNW_004955464:12,090,038...12,094,827
JBrowse link
G Tspan32 tetraspanin 32 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:14,101,833...14,121,784
Ensembl chrNW_004955422:14,101,833...14,116,101
JBrowse link
G Tspan4 tetraspanin 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955476:11,277,881...11,291,008
Ensembl chrNW_004955476:11,277,881...11,289,896
JBrowse link
G Tssc4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955422:14,175,271...14,178,991
Ensembl chrNW_004955422:14,175,271...14,178,991
JBrowse link
G Ttc16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955419:926,561...940,368
Ensembl chrNW_004955419:926,723...940,138
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14738421 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 More... NCBI chrNW_004955449:8,242,327...8,306,012
Ensembl chrNW_004955449:8,241,990...8,308,562
JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:1,804,690...1,829,705 JBrowse link
G Tusc2 tumor suppressor 2, mitochondrial calcium regulator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:2,128,430...2,131,235
Ensembl chrNW_004955532:2,128,430...2,131,235
JBrowse link
G Uba5 ubiquitin like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 More... NCBI chrNW_004955501:5,841,516...5,864,304
Ensembl chrNW_004955501:5,841,606...5,870,953
JBrowse link
G Uba7 ubiquitin like modifier activating enzyme 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chrNW_004955532:1,697,667...1,706,668
Ensembl chrNW_004955532:1,695,956...1,706,676
JBrowse link
G Uck1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:1,203,934...1,208,720
Ensembl chrNW_004955513:1,203,934...1,208,724
JBrowse link
G Uckl1 uridine-cytidine kinase 1 like 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:297,952...311,306
Ensembl chrNW_004955528:297,952...311,306
JBrowse link
G Urm1 ubiquitin related modifier 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chrNW_004955570:876,487...894,045
Ensembl chrNW_004955570:876,487...894,045
JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:13,226,271...13,228,908
Ensembl chrNW_004955464:13,221,551...13,229,253
JBrowse link
G Usb1 U6 snRNA biogenesis phosphodiesterase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,572,884...15,580,108
Ensembl chrNW_004955433:15,572,881...15,579,509
JBrowse link
G Usp20 ubiquitin specific peptidase 20 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955513:43,601...70,714
Ensembl chrNW_004955513:42,809...70,906
JBrowse link
G Ythdf1 YTH N6-methyladenosine RNA binding protein F1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:935,182...951,722
Ensembl chrNW_004955528:935,182...951,722
JBrowse link
G Zbtb34 zinc finger and BTB domain containing 34 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chrNW_004955419:1,608,348...1,645,561
Ensembl chrNW_004955419:1,615,987...1,638,282
JBrowse link
G Zbtb43 zinc finger and BTB domain containing 43 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chrNW_004955419:1,660,186...1,681,701
Ensembl chrNW_004955419:1,660,186...1,681,701
JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chrNW_004955528:438,826...485,484
Ensembl chrNW_004955528:438,859...475,543
JBrowse link
G Zdhhc12 zinc finger DHHC-type palmitoyltransferase 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,131,234...1,133,909
Ensembl chrNW_004955570:1,131,234...1,133,909
JBrowse link
G Zer1 zyg-11 related cell cycle regulator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955570:1,138,477...1,153,246
Ensembl chrNW_004955570:1,138,477...1,152,198
JBrowse link
G Zgpat zinc finger CCCH-type and G-patch domain containing ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chrNW_004955528:493,051...519,780
Ensembl chrNW_004955528:493,051...519,780
JBrowse link
G Zmynd10 zinc finger MYND-type containing 10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 PMID:30410802 NCBI chrNW_004955532:2,142,114...2,147,622
Ensembl chrNW_004955532:2,142,229...2,147,621
JBrowse link
G Znf131 zinc finger protein 131 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955446:19,066,902...19,106,458
Ensembl chrNW_004955446:19,065,927...19,106,456
JBrowse link
G Znf319 zinc finger protein 319 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chrNW_004955433:15,561,801...15,567,417
Ensembl chrNW_004955433:15,561,801...15,567,417
JBrowse link
G Znf512b zinc finger protein 512B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chrNW_004955528:288,494...297,850
Ensembl chrNW_004955528:288,735...294,898
JBrowse link
G Znf79 zinc finger protein 79 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chrNW_004955419:1,157,721...1,168,330 JBrowse link
G Zswim5 zinc finger SWIM-type containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chrNW_004955464:13,049,717...13,226,274
Ensembl chrNW_004955464:13,049,706...13,223,579
JBrowse link
congenital disorder of glycosylation type IIm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955543:1,358,086...1,367,838
Ensembl chrNW_004955543:1,357,997...1,367,897
JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955516:521,479...532,980
Ensembl chrNW_004955516:521,479...533,212
JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955543:2,304,112...2,345,376
Ensembl chrNW_004955543:2,339,659...2,345,406
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:692,035...717,364
Ensembl chrNW_004955543:692,035...717,364
JBrowse link
G Ccdc120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:577,078...594,076
Ensembl chrNW_004955543:587,321...592,544
JBrowse link
G Ccdc22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:719,185...731,788
Ensembl chrNW_004955543:718,996...733,753
JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955543:1,377,932...1,444,327 JBrowse link
G Cdk16 cyclin dependent kinase 16 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955516:860,474...873,338
Ensembl chrNW_004955516:860,480...873,338
JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955516:449,993...455,897
Ensembl chrNW_004955516:449,993...456,492
JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:1,076,988...1,256,352
Ensembl chrNW_004955543:1,077,007...1,250,352
JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955543:1,468,328...1,601,101
Ensembl chrNW_004955543:1,468,328...1,601,101
JBrowse link
G Ebp EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370
JBrowse link
G Elk1 ETS transcription factor ELK1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955516:431,081...444,871
Ensembl chrNW_004955516:430,775...444,871
JBrowse link
G Eras ES cell expressed Ras ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:381,756...383,093 JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:731,707...742,606
Ensembl chrNW_004955543:731,707...742,606
JBrowse link
G Ftsj1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955543:42,524...49,835
Ensembl chrNW_004955543:40,728...53,111
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:320,087...321,311
Ensembl chrNW_004955543:319,985...323,393
JBrowse link
G Gpkow G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:625,247...633,065 JBrowse link
G Gripap1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:500,340...527,243
Ensembl chrNW_004955543:500,340...527,267
JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:348,314...378,391
Ensembl chrNW_004955543:348,019...378,071
JBrowse link
G Kcnd1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:487,312...500,232
Ensembl chrNW_004955543:487,312...498,626
JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955516:934,740...937,207
Ensembl chrNW_004955516:934,740...937,207
JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:452,172...484,564
Ensembl chrNW_004955543:452,121...484,560
JBrowse link
G Pcsk1n proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:383,984...387,885
Ensembl chrNW_004955543:384,123...387,744
JBrowse link
G Pim2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:444,314...449,201
Ensembl chrNW_004955543:444,314...449,201
JBrowse link
G Plp2 proteolipid protein 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:658,617...662,441
Ensembl chrNW_004955543:658,486...662,441
JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955543:75,870...91,575
Ensembl chrNW_004955543:75,875...91,975
JBrowse link
G Ppp1r3f protein phosphatase 1 regulatory subunit 3F ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:750,094...767,894
Ensembl chrNW_004955543:750,323...766,797
JBrowse link
G Pqbp1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:430,324...434,205
Ensembl chrNW_004955543:430,853...434,205
JBrowse link
G Praf2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:594,662...597,695
Ensembl chrNW_004955543:594,606...598,264
JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:662,438...673,386
Ensembl chrNW_004955543:662,438...673,662
JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955516:904,852...934,313
Ensembl chrNW_004955516:904,062...934,313
JBrowse link
G Rbm3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:166,891...173,987
Ensembl chrNW_004955543:166,891...170,488
JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955543:1,810,125...2,046,144 JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: CDG IIm | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG OMIM
ClinVar
PMID:23561849 PMID:24115232 PMID:25262651 PMID:25741868 PMID:25877686 More... NCBI chrNW_004955543:434,265...443,460
Ensembl chrNW_004955543:434,405...443,508
JBrowse link
G Slc38a5 solute carrier family 38 member 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955543:15,968...24,644
Ensembl chrNW_004955543:16,089...24,668
JBrowse link
G Spaca5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955516:103,674...106,082 JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:258,479...271,128
Ensembl chrNW_004955543:258,479...272,473
JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955516:460,258...521,484
Ensembl chrNW_004955516:460,198...521,484
JBrowse link
G Syp synaptophysin ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:675,294...689,579
Ensembl chrNW_004955543:675,294...689,686
JBrowse link
G Tbc1d25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:127,314...154,235
Ensembl chrNW_004955543:127,162...154,235
JBrowse link
G Tfe3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:547,037...561,073
Ensembl chrNW_004955543:547,037...561,073
JBrowse link
G Timm17b translocase of inner mitochondrial membrane 17B ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:425,076...430,767
Ensembl chrNW_004955543:425,076...430,767
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955516:507,113...511,360
Ensembl chrNW_004955516:505,789...512,118
JBrowse link
G Uba1 ubiquitin like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955516:876,542...898,763
Ensembl chrNW_004955516:876,354...891,206
JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955516:840,708...858,201
Ensembl chrNW_004955516:841,114...857,322
JBrowse link
G Usp27x ubiquitin specific peptidase 27 X-linked ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:1,023,931...1,027,048 JBrowse link
G Uxt ubiquitously expressed prefoldin like chaperone ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955516:421,402...429,804
Ensembl chrNW_004955516:420,616...430,134
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:243,618...253,489
Ensembl chrNW_004955543:247,631...253,274
JBrowse link
G Wdr13 WD repeat domain 13 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:182,279...190,435
Ensembl chrNW_004955543:182,279...190,435
JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chrNW_004955543:597,796...604,163
Ensembl chrNW_004955543:597,814...603,963
JBrowse link
G Znf157 zinc finger protein 157 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955516:692,871...727,103
Ensembl chrNW_004955516:692,871...727,103
JBrowse link
G Znf182 zinc finger protein 182 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955516:93,596...148,739 JBrowse link
G Znf41 zinc finger protein 41 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955516:611,591...646,109 JBrowse link
G Znf81 zinc finger protein 81 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chrNW_004955516:215,370...312,684
Ensembl chrNW_004955516:219,262...248,215
JBrowse link
developmental and epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:14,933,550...14,989,492
Ensembl chrNW_004955442:14,933,550...14,989,492
JBrowse link
G Aldh7a1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:23953072 PMID:25741868 PMID:28492532 NCBI chrNW_004955521:4,365,075...4,396,105
Ensembl chrNW_004955521:4,364,638...4,396,129
JBrowse link
G Alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955490:4,069,866...4,140,494
Ensembl chrNW_004955490:4,069,494...4,140,532
JBrowse link
G Amdhd2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,775,528...14,791,650
Ensembl chrNW_004955442:14,782,755...14,791,649
JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:35638461 NCBI chrNW_004955475:4,020,922...4,214,464
Ensembl chrNW_004955475:4,017,632...4,214,563
JBrowse link
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome OMIM
ClinVar
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 More... NCBI chrNW_004955509:5,326,145...5,338,250 JBrowse link
G Atmin ATM interactor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chrNW_004955522:3,829,875...3,835,449
Ensembl chrNW_004955522:3,829,865...3,835,449
JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit c ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,791,795...14,798,066
Ensembl chrNW_004955442:14,791,795...14,798,066
JBrowse link
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chrNW_004955522:3,985,515...4,018,116
Ensembl chrNW_004955522:3,985,266...4,018,886
JBrowse link
G Bicdl2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,306,144...14,314,060
Ensembl chrNW_004955442:14,306,041...14,313,620
JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,054,116...15,056,506
Ensembl chrNW_004955442:15,055,513...15,060,526
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:32461667 PMID:32820246 PMID:32960281 More... NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,075,427...15,092,786
Ensembl chrNW_004955442:15,030,219...15,092,786
JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chrNW_004955442:14,864,935...14,890,802
Ensembl chrNW_004955442:14,865,954...14,890,709
JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955586:791,886...997,713
Ensembl chrNW_004955586:809,386...997,485
JBrowse link
G Cdyl2 chromodomain Y like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chrNW_004955522:3,403,542...3,458,029
Ensembl chrNW_004955522:3,409,054...3,571,178
JBrowse link
G Cenpn centromere protein N ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chrNW_004955522:3,801,856...3,818,675
Ensembl chrNW_004955522:3,804,578...3,818,885
JBrowse link
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chrNW_004955403:23,617,764...23,634,689
Ensembl chrNW_004955403:23,619,399...23,634,731
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955416:21,085,570...21,210,321
Ensembl chrNW_004955416:21,085,570...21,210,321
JBrowse link
G Cldn6 claudin 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,323,193...14,326,311
Ensembl chrNW_004955442:14,323,193...14,326,311
JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,326,705...14,328,150
Ensembl chrNW_004955442:14,327,140...14,327,793
JBrowse link
G Cmc2 C-X9-C motif containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chrNW_004955522:3,774,136...3,801,892
Ensembl chrNW_004955522:3,773,997...3,802,336
JBrowse link
G Cmip c-Maf inducing protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chrNW_004955522:4,128,454...4,314,340
Ensembl chrNW_004955522:4,128,454...4,315,322
JBrowse link
G Csnk1e casein kinase 1 epsilon ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chrNW_004955413:24,560,889...24,591,669
Ensembl chrNW_004955413:24,560,900...24,591,669
JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,028,168...15,031,110
Ensembl chrNW_004955442:15,028,168...15,031,110
JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:27066543 PMID:28667181 PMID:29397573 PMID:30097719 More... NCBI chrNW_004955570:752,335...781,770
Ensembl chrNW_004955570:752,335...781,770
JBrowse link
G Dynlrb2 dynein light chain roadblock-type 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chrNW_004955522:3,353,087...3,364,276
Ensembl chrNW_004955522:3,353,087...3,365,045
JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,031,210...15,041,437
Ensembl chrNW_004955442:15,030,363...15,041,877
JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,010,412...15,027,014
Ensembl chrNW_004955442:15,010,412...15,027,014
JBrowse link
G Elob elongin B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,498,666...14,501,895
Ensembl chrNW_004955442:14,498,725...14,502,135
JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,492,925...15,496,639
Ensembl chrNW_004955442:15,493,911...15,496,620
JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,450,066...15,451,797 JBrowse link
G Flywch1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,392,901...14,419,178
Ensembl chrNW_004955442:14,386,276...14,418,328
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004955533:2,879,437...2,938,952
Ensembl chrNW_004955533:2,573,599...2,938,952
JBrowse link
G Gan gigaxonin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chrNW_004955522:4,035,672...4,096,845
Ensembl chrNW_004955522:4,035,672...4,090,630
JBrowse link
G Gcsh glycine cleavage system protein H ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chrNW_004955522:3,858,156...3,869,730
Ensembl chrNW_004955522:3,857,628...3,870,228
JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,280,753...15,283,405
Ensembl chrNW_004955442:15,281,419...15,283,266
JBrowse link
G Gnao1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004955433:14,004,813...14,170,631
Ensembl chrNW_004955433:14,004,813...14,172,707
JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955513:5,154,864...5,178,636
Ensembl chrNW_004955513:5,154,864...5,178,636
JBrowse link
G Hagh hydroxyacylglutathione hydrolase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,451,910...15,465,211
Ensembl chrNW_004955442:15,451,910...15,465,211
JBrowse link
G Hcfc1r1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,318,071...14,319,549
Ensembl chrNW_004955442:14,318,071...14,319,549
JBrowse link
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chrNW_004955446:17,146,915...17,457,843
Ensembl chrNW_004955446:17,151,311...17,457,888
JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chrNW_004955406:8,000,269...8,021,554
Ensembl chrNW_004955406:8,000,269...8,021,554
JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,337,106...15,344,453
Ensembl chrNW_004955442:15,337,106...15,347,251
JBrowse link
G Igfals insulin like growth factor binding protein acid labile subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,469,602...15,482,115
Ensembl chrNW_004955442:15,478,202...15,482,115
JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:26224535 PMID:28492532 NCBI chrNW_004955415:14,106,786...14,121,975
Ensembl chrNW_004955415:14,107,380...14,121,619
JBrowse link
G Kcna2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 More... NCBI chrNW_004955435:14,074,346...14,080,026
Ensembl chrNW_004955435:14,074,346...14,078,806
JBrowse link
G Kcnq2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955528:737,416...792,885
Ensembl chrNW_004955528:737,416...791,321
JBrowse link
G Kctd5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,658,612...14,684,928
Ensembl chrNW_004955442:14,658,612...14,684,928
JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,376,466...14,381,106
Ensembl chrNW_004955442:14,376,466...14,381,106
JBrowse link
G LOC102030116 chromosome unknown open reading frame, human C16orf46 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chrNW_004955522:3,845,029...3,853,167 JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:9536098 PMID:17576681 PMID:24369382 PMID:24456803 PMID:25411445 More... NCBI chrNW_004955522:2,514,313...2,519,694 JBrowse link
G Mdh2 malate dehydrogenase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:36420423 NCBI chrNW_004955456:14,819,406...14,833,547
Ensembl chrNW_004955456:14,819,406...14,837,142
JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,409,344...15,444,996
Ensembl chrNW_004955442:15,409,344...15,444,996
JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,056,363...15,060,300
Ensembl chrNW_004955442:15,056,363...15,060,300
JBrowse link
G Mmp25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,288,139...14,302,154
Ensembl chrNW_004955442:14,286,615...14,300,737
JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,496,639...15,497,757
Ensembl chrNW_004955442:15,496,639...15,497,757
JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,322,961...15,328,311
Ensembl chrNW_004955442:15,323,039...15,327,406
JBrowse link
G Napb NSF attachment protein beta ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:33189936 NCBI chrNW_004955415:30,392,692...30,427,773
Ensembl chrNW_004955415:30,392,165...30,427,773
JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,306,688...15,309,281
Ensembl chrNW_004955442:15,306,741...15,309,167
JBrowse link
G Nherf2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,224,214...15,235,372
Ensembl chrNW_004955442:15,224,214...15,235,379
JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,288,495...15,290,601
Ensembl chrNW_004955442:15,288,602...15,290,418
JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,241,140...15,244,387
Ensembl chrNW_004955442:15,241,231...15,242,064
JBrowse link
G Nrxn2 neurexin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chrNW_004955422:20,444,109...20,551,870
Ensembl chrNW_004955422:20,391,722...20,551,870
JBrowse link
G Nthl1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,210,799...15,223,272
Ensembl chrNW_004955442:15,217,019...15,223,272
JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:14,838,076...14,840,857
Ensembl chrNW_004955442:14,838,076...14,840,857
JBrowse link
G Nubp2 NUBP iron-sulfur cluster assembly factor 2, cytosolic ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,482,916...15,486,830
Ensembl chrNW_004955442:15,483,549...15,486,741
JBrowse link
G Pacs2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:20186691 PMID:23733235 PMID:25034272 PMID:25741868 PMID:26626314 More... NCBI chrNW_004955538:3,559,738...3,616,862
Ensembl chrNW_004955538:3,559,724...3,619,649
JBrowse link
G Paqr4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,373,092...14,375,862
Ensembl chrNW_004955442:14,373,092...14,375,862
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004955503:6,428,894...6,567,253
Ensembl chrNW_004955503:6,434,047...6,567,253
JBrowse link
G Pcyt1b phosphate cytidylyltransferase 1B, choline ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chrNW_004955509:4,896,208...4,990,101
Ensembl chrNW_004955509:4,896,190...4,990,149
JBrowse link
G Pdk3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chrNW_004955509:4,809,422...4,888,802
Ensembl chrNW_004955509:4,809,399...4,878,976
JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,685,089...14,772,870
Ensembl chrNW_004955442:14,685,153...14,772,870
JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,051,149...15,053,123
Ensembl chrNW_004955442:15,051,183...15,052,289
JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,132,555...15,178,377
Ensembl chrNW_004955442:15,145,640...15,178,377
JBrowse link
G Pkd1l2 polycystin-1-like protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chrNW_004955522:3,877,806...3,963,197
Ensembl chrNW_004955522:3,877,986...3,963,188
JBrowse link
G Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,368,110...14,372,365
Ensembl chrNW_004955442:14,364,031...14,372,365
JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004955415:18,210,608...18,915,099
Ensembl chrNW_004955415:18,210,662...18,915,158
JBrowse link
G Plcg2 phospholipase C gamma 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chrNW_004955522:4,352,890...4,480,735
Ensembl chrNW_004955522:4,358,233...4,468,986
JBrowse link
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chrNW_004955509:5,007,385...5,319,683
Ensembl chrNW_004955509:5,007,182...5,319,894
JBrowse link
G Prss22 serine protease 22 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,618,859...14,623,508
Ensembl chrNW_004955442:14,618,859...14,623,508
JBrowse link
G Prss27 serine protease 27 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,636,739...14,656,877
Ensembl chrNW_004955442:14,651,902...14,656,877
JBrowse link
G Prss33 serine protease 33 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,521,485...14,524,632
Ensembl chrNW_004955442:14,521,485...14,524,632
JBrowse link
G Prss41 serine protease 41 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,527,717...14,532,265 JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,114,333...15,119,481
Ensembl chrNW_004955442:15,114,333...15,120,123
JBrowse link
G Reps2 RALBP1 associated Eps domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004955519:1,131,027...1,358,313
Ensembl chrNW_004955519:1,136,519...1,358,313
JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,300,228...15,303,645
Ensembl chrNW_004955442:15,300,178...15,302,171
JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:14,995,404...15,009,358
Ensembl chrNW_004955442:14,995,404...15,009,358
JBrowse link
G Rpl3l ribosomal protein L3 like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,311,336...15,322,578
Ensembl chrNW_004955442:15,313,729...15,322,578
JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,304,306...15,306,599 JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:11940708 PMID:12083760 PMID:16458823 PMID:17347258 PMID:18804930 More... NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971
JBrowse link
G Slc25a12 solute carrier family 25 member 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004955449:3,093,603...3,182,513
Ensembl chrNW_004955449:3,093,603...3,186,737
JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,486,845...15,493,422
Ensembl chrNW_004955442:15,487,475...15,493,422
JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,478,350...14,498,152
Ensembl chrNW_004955442:14,482,154...14,497,639
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chrNW_004955537:3,258,076...3,458,742
Ensembl chrNW_004955537:3,258,076...3,458,742
JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,273,597...15,277,740
Ensembl chrNW_004955442:15,272,692...15,277,765
JBrowse link
G Synj1 synaptojanin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955407:32,094,076...32,175,676
Ensembl chrNW_004955407:32,093,479...32,175,795
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955537:2,968,839...3,017,863
Ensembl chrNW_004955537:2,968,839...3,017,863
JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms
ClinVar PMID:1029242 PMID:3402014 PMID:9536098 PMID:10574461 PMID:10741954 More... NCBI chrNW_004955442:14,816,213...14,823,132
Ensembl chrNW_004955442:14,812,566...14,823,224
JBrowse link
G Tbl3 transducin beta like 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,290,759...15,297,070
Ensembl chrNW_004955442:15,290,759...15,297,442
JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:14,856,517...14,862,391
Ensembl chrNW_004955442:14,856,269...14,862,338
JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,314,100...14,317,726
Ensembl chrNW_004955442:14,314,100...14,317,724
JBrowse link
G Tnfrsf12a TNF receptor superfamily member 12A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,320,159...14,322,146
Ensembl chrNW_004955442:14,320,159...14,322,146
JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,092,955...15,112,842
Ensembl chrNW_004955442:15,092,955...15,112,840
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
JBrowse link
G Ufsp2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chrNW_004955403:23,634,967...23,655,429
Ensembl chrNW_004955403:23,634,924...23,655,429
JBrowse link
G Wwox WW domain containing oxidoreductase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar Annotator: match by term: X-linked infantile spasms ClinVar PMID:9536098 PMID:11572989 PMID:11956080 PMID:16199547 PMID:17576681 More... NCBI chrNW_004955522:1,265,732...2,185,372
Ensembl chrNW_004955522:1,265,404...2,184,562
JBrowse link
G Zg16b zymogen granule protein 16B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,569,492...14,572,282 JBrowse link
G Znf598 zinc finger protein 598, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chrNW_004955442:15,253,649...15,265,420
Ensembl chrNW_004955442:15,252,927...15,269,087
JBrowse link
G Zscan10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chrNW_004955442:14,270,056...14,280,877 JBrowse link
developmental and epileptic encephalopathy 100 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo28 F-box protein 28 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 100 ClinVar
OMIM
PMID:25356899 PMID:25741868 PMID:33280099 NCBI chrNW_004955520:1,169,624...1,198,277
Ensembl chrNW_004955520:1,169,447...1,198,426
JBrowse link
developmental and epileptic encephalopathy 101 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 101 OMIM
ClinVar
PMID:25741868 PMID:27164704 PMID:28492532 PMID:31219694 PMID:34611970 NCBI chrNW_004955513:5,154,864...5,178,636
Ensembl chrNW_004955513:5,154,864...5,178,636
JBrowse link
developmental and epileptic encephalopathy 102 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc38a3 solute carrier family 38 member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 102 OMIM
ClinVar