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RGD DISEASE ONTOLOGY - ANNOTATIONS

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


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 1700001O22Rik RIKEN cDNA 1700001O22 gene ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,685,575...30,695,101
Ensembl chr 2:30,684,781...30,693,673 		JBrowse link
G 2610008E11Rik RIKEN cDNA 2610008E11 gene ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr10:78,900,208...78,933,434
Ensembl chr10:78,900,208...78,933,434 		JBrowse link
G 4833420G17Rik RIKEN cDNA 4833420G17 gene ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr13:119,599,295...119,622,656
Ensembl chr13:119,599,304...119,622,656 		JBrowse link
G 6430571L13Rik RIKEN cDNA 6430571L13 gene ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:107,217,839...107,226,882
Ensembl chr 9:107,217,801...107,229,621 		JBrowse link
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 chr 2:181,134,999...181,136,773
Ensembl chr 2:181,134,999...181,136,773 		JBrowse link
G Abl1 c-abl oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:31,578,256...31,697,105
Ensembl chr 2:31,578,388...31,694,239 		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 chr 8:95,701,321...95,740,836
Ensembl chr 8:95,701,379...95,740,845 		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 chr 8:95,743,742...95,771,878
Ensembl chr 8:95,744,320...95,771,878 		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 chr 8:95,648,439...95,669,921
Ensembl chr 8:95,650,322...95,669,908 		JBrowse link
G Adrm1 adhesion regulating molecule 1 26S proteasome ubiquitin receptor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:179,813,381...179,818,076
Ensembl chr 2:179,813,278...179,818,079 		JBrowse link
G Aif1l allograft inflammatory factor 1-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:31,840,315...31,863,454
Ensembl chr 2:31,840,151...31,863,454 		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 chr 2:32,511,770...32,525,070
Ensembl chr 2:32,511,770...32,525,070 		JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:28,588,287...28,703,177
Ensembl chr 2:28,590,176...28,703,177 		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 chr 4:116,493,707...116,508,871
Ensembl chr 4:116,493,707...116,508,877 		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 chr 8:94,698,216...94,739,301
Ensembl chr 8:94,698,216...94,739,470 		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 chr 9:107,930,358...107,932,900
Ensembl chr 9:107,930,358...107,932,900 		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 chr 2:33,105,963...33,137,737
Ensembl chr 2:33,106,081...33,137,729 		JBrowse link
G Ano4 anoctamin 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 NCBI chr10:88,784,794...89,181,059
Ensembl chr10:88,784,856...89,180,624 		JBrowse link
G Ano9 anoctamin 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,681,125...140,697,719
Ensembl chr 7:140,681,125...140,697,719 		JBrowse link
G Anxa2r2 annexin A2 receptor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr13:120,487,820...120,488,915
Ensembl chr13:120,487,821...120,488,773 		JBrowse link
G Ap2a2 adaptor-related protein complex 2, alpha 2 subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,142,093...141,212,924
Ensembl chr 7:141,142,086...141,212,924 		JBrowse link
G Apeh acylpeptide hydrolase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:107,962,613...107,971,736
Ensembl chr 9:107,962,612...107,971,805 		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 chr 2:180,608,290...180,624,319
Ensembl chr 2:180,609,018...180,624,319 		JBrowse link
G Arfrp1 ARF 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 chr 2:180,999,483...181,007,197
Ensembl chr 2:180,999,483...181,007,197 		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 chr11:68,819,726...68,847,760
Ensembl chr11:68,833,981...68,848,306 		JBrowse link
G Arl2bp ADP-ribosylation factor-like 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 chr 8:95,393,228...95,401,085
Ensembl chr 8:95,393,228...95,401,053 		JBrowse link
G Armh1 armadillo-like helical domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:117,070,523...117,109,329
Ensembl chr 4:117,070,531...117,109,322 		JBrowse link
G Art1 ADP-ribosyltransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:101,750,913...101,771,410
Ensembl chr 7:101,750,950...101,763,140 		JBrowse link
G Art5 ADP-ribosyltransferase 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:101,746,086...101,752,052
Ensembl chr 7:101,746,086...101,758,696 		JBrowse link
G Artn artemin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 4:117,783,105...117,787,993
Ensembl chr 4:117,783,359...117,786,960 		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 chr 2:30,713,109...30,718,312
Ensembl chr 2:30,713,109...30,720,345 		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 chr 7:142,520,559...142,523,001
Ensembl chr 7:142,520,566...142,523,001 		JBrowse link
G Ass1 argininosuccinate synthetase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:31,360,282...31,410,682
Ensembl chr 2:31,360,219...31,410,684 		JBrowse link
G Atp6v0b ATPase, H+ transporting, lysosomal V0 subunit B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 4:117,741,523...117,744,548
Ensembl chr 4:117,741,523...117,744,530 		JBrowse link
G Aven apoptosis, caspase activation inhibitor ISO ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy ClinVar NCBI chr 2:112,323,231...112,461,598
Ensembl chr 2:112,323,309...112,464,918 		JBrowse link
G B4galnt4 beta-1,4-N-acetyl-galactosaminyl transferase 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,640,891...140,652,313
Ensembl chr 7:140,641,017...140,652,313 		JBrowse link
G B4galt2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 4:117,730,211...117,740,724
Ensembl chr 4:117,726,457...117,740,684 		JBrowse link
G Barhl1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:28,797,692...28,807,996
Ensembl chr 2:28,797,691...28,806,680 		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 chr 2:32,269,120...32,271,877
Ensembl chr 2:32,267,109...32,271,950 		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 chr 8:94,794,580...94,825,997
Ensembl chr 8:94,794,582...94,825,556 		JBrowse link
G BC005624 cDNA sequence BC005624 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,862,845...30,872,225
Ensembl chr 2:30,862,189...30,872,213 		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 chr 2:180,416,174...180,418,693
Ensembl chr 2:180,416,174...180,418,693 		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 chr 2:180,570,402...180,575,803
Ensembl chr 2:180,570,816...180,575,803 		JBrowse link
G Brsk2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,503,488...141,557,981
Ensembl chr 7:141,503,488...141,557,984 		JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 NCBI chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047 		JBrowse link
G Bsn bassoon ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:107,973,221...108,067,618
Ensembl chr 9:107,973,221...108,067,583 		JBrowse link
G Btbd19 BTB domain containing 19 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,976,409...116,983,531
Ensembl chr 4:116,976,416...116,982,922 		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 chr 2:179,900,332...179,915,258
Ensembl chr 2:179,900,333...179,915,289 		JBrowse link
G Cacna1e calcium channel, voltage-dependent, R type, alpha 1E subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:17660294 PMID:23934111 PMID:25741868 PMID:26680202 PMID:28135719 More... NCBI chr 1:154,266,552...154,760,374
Ensembl chr 1:154,266,477...154,760,247 		JBrowse link
G Cacna2d2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 More... NCBI chr 9:107,276,948...107,406,545
Ensembl chr 9:107,276,811...107,406,542 		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 chr 9:107,813,097...107,826,882
Ensembl chr 9:107,812,873...107,826,890 		JBrowse link
G Cars1 cysteinyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:143,110,967...143,153,827
Ensembl chr 7:143,110,967...143,153,827 		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 chr 8:95,629,497...95,644,726
Ensembl chr 8:95,629,497...95,644,726 		JBrowse link
G Ccdc113 coiled-coil domain containing 113 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:96,260,684...96,285,516
Ensembl chr 8:96,260,713...96,285,518 		JBrowse link
G Ccdc152 coiled-coil domain containing 152 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr15:3,309,725...3,334,209
Ensembl chr15:3,309,552...3,333,008 		JBrowse link
G Ccdc17 coiled-coil domain containing 17 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,453,927...116,457,463
Ensembl chr 4:116,453,851...116,457,463 		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 chr 4:117,725,946...117,729,808
Ensembl chr 4:117,723,721...117,729,754 		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 chr 8:95,535,996...95,538,666
Ensembl chr 8:95,537,081...95,538,664 		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 chr 8:95,472,312...95,478,016
Ensembl chr 8:95,472,218...95,478,327 		JBrowse link
G Ccl28 C-C motif chemokine ligand 28 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr13:120,085,355...120,115,895
Ensembl chr13:120,085,355...120,115,895 		JBrowse link
G Cd151 CD151 antigen ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,047,275...141,051,394
Ensembl chr 7:141,047,305...141,051,386 		JBrowse link
G Cd81 CD81 antigen ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:142,606,487...142,621,667
Ensembl chr 7:142,606,476...142,621,671 		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 chr 9:107,869,656...107,876,880
Ensembl chr 9:107,869,696...107,876,883 		JBrowse link
G Cdhr5 cadherin-related family member 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,848,993...140,856,708
Ensembl chr 7:140,848,996...140,856,699 		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 chr 2:32,595,794...32,608,098
Ensembl chr 2:32,595,796...32,603,088 		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 chr  X:159,567,241...159,777,673
Ensembl chr  X:159,554,919...159,777,700 		JBrowse link
G Cdkn1c cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:143,012,076...143,014,735
Ensembl chr 7:143,012,076...143,014,787 		JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:28,445,831...28,453,415
Ensembl chr 2:28,445,807...28,453,415 		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 chr 7:141,006,359...141,009,475
Ensembl chr 7:141,006,359...141,009,404 		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 chr 2:29,735,442...29,772,857
Ensembl chr 2:29,759,176...29,772,852 		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 chr 2:32,667,425...32,674,417
Ensembl chr 2:32,667,393...32,674,440 		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 chr 8:96,146,867...96,161,716
Ensembl chr 8:96,146,877...96,161,497 		JBrowse link
G Cfap77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:28,845,493...28,945,078
Ensembl chr 2:28,816,961...28,945,078 		JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar NCBI chr 7:73,076,400...73,191,494
Ensembl chr 7:73,076,386...73,191,578 		JBrowse link
G Chid1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,073,049...141,119,818
Ensembl chr 7:141,073,049...141,119,770 		JBrowse link
G Chrna10 cholinergic receptor, nicotinic, alpha polypeptide 10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:101,760,469...101,766,564
Ensembl chr 7:101,760,473...101,766,035 		JBrowse link
G Chrna4 cholinergic receptor, nicotinic, alpha polypeptide 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9425895 PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 More... NCBI chr 2:180,664,104...180,685,339
Ensembl chr 2:180,660,173...180,685,339 		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 chr 8:95,546,446...95,565,454
Ensembl chr 8:95,546,432...95,564,986 		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 chr 9:107,173,858...107,179,983
Ensembl chr 9:107,173,225...107,179,983 		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 chr 2:32,252,724...32,268,311
Ensembl chr 2:32,242,339...32,270,982 		JBrowse link
G Cngb1 cyclic nucleotide gated channel 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 chr 8:95,965,671...96,033,213
Ensembl chr 8:95,965,673...96,033,213 		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 chr 8:96,445,559...96,534,741
Ensembl chr 8:96,446,079...96,534,092 		JBrowse link
G Col20a1 collagen, type XX, alpha 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,626,629...180,659,338
Ensembl chr 2:180,628,328...180,660,156 		JBrowse link
G Col9a3 collagen, type IX, alpha 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,239,895...180,263,985
Ensembl chr 2:180,239,583...180,263,982 		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 chr 2:29,677,505...29,687,947
Ensembl chr 2:29,677,505...29,687,947 		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 chr 8:95,565,041...95,581,523
Ensembl chr 8:95,564,949...95,581,523 		JBrowse link
G Cpne2 copine II ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:95,259,299...95,297,157
Ensembl chr 8:95,259,618...95,297,159 		JBrowse link
G Cracr2b calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,041,007...141,046,526
Ensembl chr 7:141,041,007...141,046,526 		JBrowse link
G Crat carnitine acetyltransferase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,290,483...30,305,602
Ensembl chr 2:30,290,483...30,305,825 		JBrowse link
G Csnk2a2 casein kinase 2, alpha prime polypeptide ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:96,172,724...96,215,505
Ensembl chr 8:96,172,724...96,216,667 		JBrowse link
G Csrnp3 cysteine-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 chr 2:65,675,628...65,866,958
Ensembl chr 2:65,676,111...65,861,890 		JBrowse link
G Ctsd cathepsin D ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,929,647...141,941,564
Ensembl chr 7:141,929,648...141,941,775 		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 chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055 		JBrowse link
G Cyb561d2 cytochrome b-561 domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 PMID:30410802 NCBI chr 9:107,416,210...107,419,392
Ensembl chr 9:107,416,206...107,419,392 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:108,082,060...108,141,176
Ensembl chr 9:108,081,833...108,141,157 		JBrowse link
G Ddx31 DEAD/H box helicase 31 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:28,730,418...28,795,587
Ensembl chr 2:28,730,418...28,795,583 		JBrowse link
G Deaf1 DEAF1, transcription factor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,877,089...140,918,758
Ensembl chr 7:140,877,093...140,907,603 		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 chr 2:180,299,757...180,351,886
Ensembl chr 2:180,299,757...180,351,792 		JBrowse link
G Dmap1 DNA methyltransferase 1-associated protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:117,531,878...117,539,450
Ensembl chr 4:117,531,878...117,539,470 		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 chr 2:181,162,141...181,194,679
Ensembl chr 2:181,162,278...181,196,926 		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 chr 2:32,198,483...32,243,361
Ensembl chr 2:32,198,483...32,243,350 		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 chr 8:95,590,456...95,602,940
Ensembl chr 8:95,590,456...95,602,958 		JBrowse link
G Dolk dolichol kinase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,174,241...30,176,366
Ensembl chr 2:30,174,243...30,176,346 		JBrowse link
G Dolpp1 dolichyl pyrophosphate phosphatase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,282,261...30,290,539
Ensembl chr 2:30,282,266...30,290,541 		JBrowse link
G Dph2 DPH2 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 4:117,745,838...117,749,220
Ensembl chr 4:117,745,840...117,749,229 		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 chr 2:32,460,870...32,463,583
Ensembl chr 2:32,460,870...32,463,591 		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 chr 8:95,781,731...95,804,769
Ensembl chr 8:95,781,731...95,804,769 		JBrowse link
G Drd4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,871,931...140,874,868
Ensembl chr 7:140,871,919...140,876,377 		JBrowse link
G Dusp8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,633,224...141,649,799
Ensembl chr 7:141,633,227...141,649,580 		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 chr 2:29,921,563...29,938,891
Ensembl chr 2:29,921,558...29,938,893 		JBrowse link
G Dynlt4 dynein light chain Tctex-type 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,981,734...116,985,935
Ensembl chr 4:116,983,991...116,985,935 		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 chr 2:180,783,551...180,798,808
Ensembl chr 2:180,789,446...180,798,807 		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 chr 2:32,425,344...32,459,763
Ensembl chr 2:32,425,344...32,459,768 		JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B, subunit 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,876,559...116,944,049
Ensembl chr 4:116,876,599...116,944,503 		JBrowse link
G Elfn1 leucine rich repeat and fibronectin type III, extracellular 1 ISO ClinVar Annotator: match by term: Developmental and Epileptic Encephalopathy with Joint Laxity ClinVar PMID:24312227 PMID:34509675 NCBI chr 5:139,893,346...139,960,480
Ensembl chr 5:139,893,698...139,960,477 		JBrowse link
G Endog endonuclease G ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,061,525...30,064,057
Ensembl chr 2:30,061,505...30,064,081 		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 chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681 		JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,918,824...140,942,933
Ensembl chr 7:140,918,793...140,942,933 		JBrowse link
G Eri3 exoribonuclease 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:117,407,416...117,531,494
Ensembl chr 4:117,407,562...117,531,494 		JBrowse link
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:31,560,727...31,571,593
Ensembl chr 2:31,560,727...31,571,361 		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 chr 2:31,932,720...31,977,484
Ensembl chr 2:31,940,098...31,954,923
Ensembl chr 2:31,940,098...31,954,923 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651 		JBrowse link
G Fibcd1 fibrinogen C domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:31,703,302...31,736,976
Ensembl chr 2:31,703,302...31,736,017 		JBrowse link
G Fnbp1 formin binding protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,916,218...31,032,046
Ensembl chr 2:30,916,218...31,032,020 		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 chr 2:180,854,385...180,864,649
Ensembl chr 2:180,861,806...180,864,647 		JBrowse link
G Fpgs folylpolyglutamyl synthetase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 2:32,572,621...32,594,163
Ensembl chr 2:32,572,621...32,594,157 		JBrowse link
G Fubp3 far upstream element (FUSE) binding protein 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:31,462,655...31,507,538
Ensembl chr 2:31,462,663...31,507,538 		JBrowse link
G Gabra2 gamma-aminobutyric acid type A receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:29422393 NCBI chr 5:71,115,735...71,253,192
Ensembl chr 5:71,114,940...71,253,192 		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 chr 2:65,913,110...65,955,217
Ensembl chr 2:65,913,110...65,955,338 		JBrowse link
G Garnl3 GTPase activating 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 chr 2:32,876,237...33,021,871
Ensembl chr 2:32,876,236...33,021,666 		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 chr 2:179,966,881...179,977,296
Ensembl chr 2:179,966,926...179,976,492 		JBrowse link
G Gatd1 glutamine amidotransferase like class 1 domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,988,097...140,994,038
Ensembl chr 7:140,987,707...140,994,049 		JBrowse link
G Gfi1b growth factor independent 1B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:28,499,462...28,511,994
Ensembl chr 2:28,499,462...28,511,994 		JBrowse link
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr15:3,347,237...3,612,834
Ensembl chr15:3,347,242...3,612,974 		JBrowse link
G Gid8 GID complex subunit 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,351,874...180,363,392
Ensembl chr 2:180,351,910...180,360,526 		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 chr 8:96,360,187...96,371,687
Ensembl chr 8:96,360,081...96,371,688 		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 chr 2:29,825,421...29,849,444
Ensembl chr 2:29,825,438...29,850,383 		JBrowse link
G Gm4553 predicted gene 4553 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,718,433...141,719,488
Ensembl chr 7:141,718,433...141,719,476 		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 chr 2:180,893,240...180,933,481
Ensembl chr 2:180,893,242...180,929,828 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:107,926,490...107,929,119
Ensembl chr 9:107,926,441...107,930,000 		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 chr 9:107,491,324...107,512,542
Ensembl chr 9:107,491,324...107,512,566 		JBrowse link
G Gnao1 guanine nucleotide binding protein, alpha O ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:8521505 PMID:9108480 PMID:9536098 PMID:10419452 PMID:10615050 More... NCBI chr 8:94,537,213...94,696,016
Ensembl chr 8:94,536,594...94,696,016 		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 chr 9:107,551,636...107,556,833
Ensembl chr 9:107,551,673...107,556,911 		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 chr 2:32,178,299...32,197,925
Ensembl chr 2:32,177,396...32,197,933 		JBrowse link
G Got2 glutamatic-oxaloacetic transaminase 2, mitochondrial ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:25741868 PMID:26518167 More... NCBI chr 8:96,590,761...96,615,029
Ensembl chr 8:96,590,762...96,615,175 		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 chr 4:116,414,357...116,451,099
Ensembl chr 4:116,414,855...116,451,079 		JBrowse link
G Gpr107 G protein-coupled receptor 107 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:31,042,099...31,106,579
Ensembl chr 2:31,042,328...31,108,787 		JBrowse link
G Gtf3c4 general transcription factor IIIC, polypeptide 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:28,712,311...28,730,628
Ensembl chr 2:28,712,311...28,730,372 		JBrowse link
G Gtf3c5 general transcription factor IIIC, polypeptide 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:28,456,257...28,473,291
Ensembl chr 2:28,456,323...28,473,763 		JBrowse link
G H19 H19, imprinted maternally expressed transcript ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:142,129,267...142,131,883
Ensembl chr 7:142,129,262...142,133,957 		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 chr13:117,738,856...118,117,564
Ensembl chr13:117,738,856...118,123,954 		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 chr 4:116,852,491...116,862,474
Ensembl chr 4:116,852,514...116,862,474 		JBrowse link
G Helz2 helicase with zinc finger 2, transcriptional coactivator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr 2:180,869,408...180,883,851
Ensembl chr 2:180,869,408...180,883,820 		JBrowse link
G Hemk1 HemK methyltransferase family member 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:107,204,281...107,217,640
Ensembl chr 9:107,204,283...107,215,549 		JBrowse link
G Herpud1 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:95,113,057...95,121,999
Ensembl chr 8:95,113,066...95,122,005 		JBrowse link
G Hmcn2 hemicentin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:31,204,273...31,350,751
Ensembl chr 2:31,204,427...31,350,750 		JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr13:120,151,887...120,169,796
Ensembl chr13:120,151,915...120,169,796 		JBrowse link
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,677,104...116,678,705
Ensembl chr 4:116,677,101...116,678,904 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Hyal1 hyaluronoglucosaminidase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:107,454,149...107,458,898
Ensembl chr 9:107,454,126...107,458,909 		JBrowse link
G Hyal2 hyaluronoglucosaminidase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:107,445,096...107,449,975
Ensembl chr 9:107,445,144...107,449,978 		JBrowse link
G Hyal3 hyaluronoglucosaminidase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:107,458,495...107,464,558
Ensembl chr 9:107,458,017...107,464,558 		JBrowse link
G Ier5l immediate early response 5-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,362,643...30,364,211
Ensembl chr 2:30,361,549...30,364,231 		JBrowse link
G Ifitm1 interferon induced transmembrane protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,547,342...140,549,740
Ensembl chr 7:140,547,134...140,549,738 		JBrowse link
G Ifitm10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,879,572...141,927,526
Ensembl chr 7:141,879,574...141,927,490 		JBrowse link
G Ifitm2 interferon induced transmembrane protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,534,750...140,539,602
Ensembl chr 7:140,534,750...140,535,900 		JBrowse link
G Ifitm3 interferon induced transmembrane protein 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,589,503...140,590,657
Ensembl chr 7:140,589,499...140,590,683 		JBrowse link
G Ifitm5 interferon induced transmembrane protein 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,528,871...140,530,156
Ensembl chr 7:140,528,871...140,530,204 		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 chr 9:107,464,917...107,470,237
Ensembl chr 9:107,464,841...107,470,584 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553 		JBrowse link
G Igf2os insulin-like growth factor 2, opposite strand ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:142,213,417...142,224,093
Ensembl chr 7:142,213,430...142,224,093 		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 chr 9:107,861,422...107,863,078
Ensembl chr 9:107,861,422...107,863,078 		JBrowse link
G Ins1 insulin I ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr19:52,252,735...52,253,453
Ensembl chr19:52,252,735...52,253,914 		JBrowse link
G Ins2 insulin II ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:142,232,393...142,233,463
Ensembl chr 7:142,232,393...142,297,118 		JBrowse link
G Ip6k1 inositol hexaphosphate kinase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:107,879,847...107,925,981
Ensembl chr 9:107,879,700...107,925,981 		JBrowse link
G Ipo13 importin 13 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 4:117,751,689...117,772,419
Ensembl chr 4:117,751,683...117,772,196 		JBrowse link
G Ipp IAP promoted placental gene ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,364,710...116,400,607
Ensembl chr 4:116,364,746...116,395,440 		JBrowse link
G Irf7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,843,096...140,846,412
Ensembl chr 7:140,842,619...140,846,394 		JBrowse link
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:26224535 NCBI chr 2:130,506,702...130,523,534
Ensembl chr 2:130,509,530...130,523,534 		JBrowse link
G Katnb1 katanin p80 (WD40-containing) subunit B 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:95,807,804...95,826,502
Ensembl chr 8:95,807,814...95,829,777 		JBrowse link
G Kcna3 potassium voltage-gated channel, shaker-related subfamily, member 3 ISO ClinVar Annotator: match by term: KCNA3-associated developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:37964487 NCBI chr 3:106,943,486...106,947,223
Ensembl chr 3:106,943,485...106,945,386 		JBrowse link
G Kcnb1 potassium voltage gated channel, Shab-related subfamily, member 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:31600826 PMID:32954514 NCBI chr 2:166,937,889...167,032,088
Ensembl chr 2:166,937,889...167,032,075 		JBrowse link
G Kcnc2 potassium voltage gated channel, Shaw-related subfamily, member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar NCBI chr10:112,105,803...112,302,209
Ensembl chr10:112,107,026...112,302,929 		JBrowse link
G Kcnh5 potassium voltage-gated channel, subfamily H (eag-related), 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 chr12:74,943,991...75,224,625
Ensembl chr12:74,943,994...75,224,106 		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 chr 7:142,660,614...142,980,787
Ensembl chr 7:142,660,099...142,980,779 		JBrowse link
G Kcnq1ot1 KCNQ1 overlapping transcript 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:142,766,848...142,850,284
Ensembl chr 7:142,731,402...142,850,327 		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:2847176 PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 More... NCBI chr 2:180,717,372...180,777,368
Ensembl chr 2:180,717,372...180,777,093 		JBrowse link
G Kif2c kinesin family member 2C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:117,016,830...117,039,821
Ensembl chr 4:117,016,836...117,039,836 		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 chr 8:95,826,456...95,929,454
Ensembl chr 8:95,826,456...95,929,440 		JBrowse link
G Klf17 Kruppel-like transcription factor 17 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:117,613,856...117,622,863
Ensembl chr 4:117,615,033...117,622,845 		JBrowse link
G Krtap5-1 keratin associated protein 5-1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,850,114...141,850,871
Ensembl chr 7:141,850,114...141,850,855 		JBrowse link
G Krtap5-2 keratin associated protein 5-2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,728,269...141,729,742
Ensembl chr 7:141,728,272...141,729,742 		JBrowse link
G Krtap5-5 keratin associated protein 5-5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,782,532...141,783,708
Ensembl chr 7:141,782,532...141,783,708 		JBrowse link
G Kyat1 kynurenine aminotransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,075,136...30,096,307
Ensembl chr 2:30,075,136...30,095,859 		JBrowse link
G Lama5 laminin, alpha 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:179,818,166...179,867,652
Ensembl chr 2:179,818,166...179,867,652 		JBrowse link
G Lamc3 laminin gamma 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:31,777,293...31,839,095
Ensembl chr 2:31,777,303...31,836,551 		JBrowse link
G Lcn2 lipocalin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 2:32,274,649...32,277,751
Ensembl chr 2:32,274,645...32,278,264 		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 chr 2:181,023,028...181,025,421
Ensembl chr 2:181,021,871...181,025,421 		JBrowse link
G Lmntd2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,789,903...140,795,617
Ensembl chr 7:140,789,905...140,793,993 		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 chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		JBrowse link
G Lrrc8a leucine rich repeat containing 8A VRAC subunit A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,127,781...30,153,802
Ensembl chr 2:30,127,727...30,153,802 		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 chr 2:32,815,227...32,851,666
Ensembl chr 2:32,815,228...32,851,626 		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 chr 9:107,469,825...107,475,189
Ensembl chr 9:107,469,829...107,474,274 		JBrowse link
G Lsp1 lymphocyte specific 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:142,014,583...142,048,605
Ensembl chr 7:142,014,546...142,048,604 		JBrowse link
G Mapkapk3 mitogen-activated protein kinase-activated protein kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:107,132,125...107,167,082
Ensembl chr 9:107,132,126...107,167,076 		JBrowse link
G Mast2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,163,957...116,321,420
Ensembl chr 4:116,163,959...116,321,471 		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 chr 8:71,230,761...71,257,681
Ensembl chr 8:71,230,761...71,257,698 		JBrowse link
G Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:29,236,822...29,414,802
Ensembl chr 2:29,236,831...29,414,805 		JBrowse link
G Miga2 mitoguardin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,254,232...30,275,532
Ensembl chr 2:30,254,245...30,275,533 		JBrowse link
G Mir133a-2 microRNA 133a-2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,040,172...180,040,275
Ensembl chr 2:180,040,172...180,040,275 		JBrowse link
G Mir138-2 microRNA 138-2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:95,050,939...95,051,009
Ensembl chr 8:95,050,939...95,051,009 		JBrowse link
G Mir199b microRNA 199b ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 2:32,208,472...32,208,581
Ensembl chr 2:32,208,472...32,208,581 		JBrowse link
G Mir1a-1 microRNA 1a-1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,030,841...180,030,917
Ensembl chr 2:180,030,841...180,030,917 		JBrowse link
G Mir210 microRNA 210 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,801,297...140,801,406
Ensembl chr 7:140,801,297...140,801,406 		JBrowse link
G Mir219a-2 microRNA 219a-2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 2:29,735,643...29,735,739
Ensembl chr 2:29,735,643...29,735,739 		JBrowse link
G Mir219b microRNA 219b ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 2:29,735,659...29,735,723
Ensembl chr 2:29,735,659...29,735,723 		JBrowse link
G Mir2861 microRNA 2861 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 2:32,602,819...32,602,900
Ensembl chr 2:32,602,819...32,602,900 		JBrowse link
G Mir3154 microRNA 3154 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 2:32,208,277...32,208,355
Ensembl chr 2:32,208,277...32,208,355 		JBrowse link
G Mmachc methylmalonic aciduria cblC type, with homocystinuria ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,559,631...116,565,582
Ensembl chr 4:116,559,476...116,565,603 		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 chr 8:96,078,924...96,100,921
Ensembl chr 8:96,078,896...96,101,708 		JBrowse link
G Mob2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,562,254...141,614,796
Ensembl chr 7:141,562,272...141,614,802 		JBrowse link
G Mon1a MON1 homolog A, secretory traffciking associated ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:107,765,282...107,780,338
Ensembl chr 9:107,765,350...107,780,338 		JBrowse link
G Mrgbp MRG/MORF4L binding protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,222,990...180,228,097
Ensembl chr 2:180,223,097...180,228,097 		JBrowse link
G Mrgpre MAS-related GPR, member E ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:143,332,100...143,338,237
Ensembl chr 7:143,332,100...143,338,237 		JBrowse link
G Mrgprg MAS-related GPR, member G ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:143,317,447...143,320,730
Ensembl chr 7:143,317,447...143,320,730 		JBrowse link
G Mrpl23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:142,086,423...142,094,484
Ensembl chr 7:142,086,423...142,094,484 		JBrowse link
G Mrps30 mitochondrial ribosomal protein S30 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr13:118,516,646...118,523,788
Ensembl chr13:118,514,917...118,523,788 		JBrowse link
G Mst1 macrophage stimulating 1 (hepatocyte growth factor-like) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:107,957,607...107,962,226
Ensembl chr 9:107,957,635...107,962,202 		JBrowse link
G Mst1r macrophage stimulating 1 receptor (c-met-related tyrosine kinase) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:107,784,057...107,797,582
Ensembl chr 9:107,784,072...107,797,582 		JBrowse link
G Mt1 metallothionein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:94,905,214...94,906,955
Ensembl chr 8:94,905,710...94,906,955 		JBrowse link
G Mt2 metallothionein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:94,899,246...94,900,195
Ensembl chr 8:94,899,292...94,900,196 		JBrowse link
G Mt3 metallothionein 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:94,879,235...94,880,776
Ensembl chr 8:94,879,235...94,880,774 		JBrowse link
G Mt4 metallothionein 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:94,863,832...94,865,659
Ensembl chr 8:94,863,825...94,865,659 		JBrowse link
G Muc2 mucin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,276,583...141,308,428
Ensembl chr 7:141,276,583...141,308,430 		JBrowse link
G Muc5ac mucin 5, subtypes A and C, tracheobronchial/gastric ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,342,695...141,372,964
Ensembl chr 7:141,342,709...141,372,968 		JBrowse link
G Muc5b mucin 5, subtype B, tracheobronchial ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,392,796...141,426,826
Ensembl chr 7:141,392,807...141,426,821 		JBrowse link
G Muc6 mucin 6, gastric ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,212,404...141,241,659
Ensembl chr 7:141,213,373...141,241,641 		JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,664,846...116,676,641
Ensembl chr 4:116,664,920...116,676,637 		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 chr 9:107,457,868...107,461,247
Ensembl chr 9:107,456,086...107,461,249 		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 chr 2:32,340,469...32,346,969
Ensembl chr 2:32,340,469...32,346,965 		JBrowse link
G Nap1l4 nucleosome assembly protein 1-like 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:143,067,316...143,103,698
Ensembl chr 7:143,067,316...143,102,843 		JBrowse link
G Nasp nuclear autoantigenic sperm protein (histone-binding) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,458,249...116,488,894
Ensembl chr 4:116,458,249...116,485,138 		JBrowse link
G Ncs1 neuronal calcium sensor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:31,135,766...31,186,001
Ensembl chr 2:31,135,835...31,186,001 		JBrowse link
G Ndrg4 N-myc downstream regulated gene 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:96,403,602...96,441,584
Ensembl chr 8:96,403,608...96,441,747 		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 chr 2:32,766,146...32,815,265
Ensembl chr 2:32,766,126...32,815,266 		JBrowse link
G Nkain4 Na+/K+ transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,576,559...180,596,730
Ensembl chr 2:180,576,565...180,596,492 		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 chr 8:95,160,963...95,253,900
Ensembl chr 8:95,160,984...95,253,900 		JBrowse link
G Nnt nicotinamide nucleotide transhydrogenase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr13:119,472,063...119,545,793
Ensembl chr13:119,471,984...119,545,533
Ensembl chr13:119,471,984...119,545,533 		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 chr 9:107,419,405...107,422,905
Ensembl chr 9:107,419,425...107,422,905 		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 chr 2:30,697,576...30,713,045
Ensembl chr 2:30,697,838...30,713,045 		JBrowse link
G Ntng2 netrin G2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:29,084,738...29,138,111
Ensembl chr 2:29,084,553...29,143,017 		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 chr 2:180,141,769...180,186,772
Ensembl chr 2:180,141,769...180,186,773 		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 chr 8:94,746,031...94,763,667
Ensembl chr 8:94,742,124...94,763,659 		JBrowse link
G Nup188 nucleoporin 188 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,176,419...30,234,278
Ensembl chr 2:30,176,409...30,234,278 		JBrowse link
G Nup214 nucleoporin 214 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:31,864,446...31,943,204
Ensembl chr 2:31,864,448...31,943,987 		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 chr 8:94,941,203...95,043,858
Ensembl chr 8:94,941,192...95,043,855 		JBrowse link
G Nup98 nucleoporin 98 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:101,768,607...101,859,359
Ensembl chr 7:101,768,605...101,859,383 		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 chr 2:29,779,026...29,821,758
Ensembl chr 2:29,779,233...29,821,758 		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 chr 8:94,763,782...94,794,550
Ensembl chr 8:94,763,826...94,794,549 		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 chr 2:180,231,200...180,237,630
Ensembl chr 2:180,231,038...180,237,629 		JBrowse link
G Osbpl5 oxysterol binding protein-like 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:143,242,499...143,310,745
Ensembl chr 7:143,242,499...143,310,722 		JBrowse link
G Paip1 polyadenylate binding protein-interacting protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr13:119,564,960...119,596,858
Ensembl chr13:119,565,137...119,594,754 		JBrowse link
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:101,859,153...101,887,771
Ensembl chr 7:101,859,415...101,887,774 		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 chr 7:143,055,282...143,056,882
Ensembl chr 7:143,055,282...143,056,887 		JBrowse link
G Phrf1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,808,373...140,842,664
Ensembl chr 7:140,808,697...140,842,663 		JBrowse link
G Phyhd1 phytanoyl-CoA dioxygenase domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,156,215...30,172,161
Ensembl chr 2:30,156,215...30,172,161 		JBrowse link
G Pidd1 p53 induced death domain protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,018,026...141,027,477
Ensembl chr 7:141,018,026...141,023,938 		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 chr16:94,159,622...94,171,874
Ensembl chr16:94,159,622...94,172,701 		JBrowse link
G Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,078,593...116,160,253
Ensembl chr 4:116,078,815...116,160,253
Ensembl chr 4:116,078,815...116,160,253 		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 chr 2:32,465,238...32,473,799
Ensembl chr 2:32,464,809...32,473,794 		JBrowse link
G Pkn3 protein kinase N3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:29,967,657...29,981,031
Ensembl chr 2:29,967,696...29,981,034 		JBrowse link
G Pkp3 plakophilin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,658,202...140,670,424
Ensembl chr 7:140,658,131...140,670,423 		JBrowse link
G Plk3 polo like kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,985,852...116,991,244
Ensembl chr 4:116,985,852...116,991,160 		JBrowse link
G Pllp plasma membrane proteolipid ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:95,401,523...95,422,870
Ensembl chr 8:95,401,522...95,422,906 		JBrowse link
G Plpp7 phospholipid phosphatase 7 (inactive) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:31,985,540...32,000,827
Ensembl chr 2:31,985,540...32,000,832 		JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,035,101...141,040,656
Ensembl chr 7:141,035,111...141,040,656 		JBrowse link
G Polr2c polymerase (RNA) II (DNA directed) polypeptide C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:95,584,078...95,590,870
Ensembl chr 8:95,584,078...95,600,163 		JBrowse link
G Polr2l polymerase (RNA) II (DNA directed) polypeptide L ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,051,773...141,055,066
Ensembl chr 7:141,051,773...141,055,045 		JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,007,700...116,017,041
Ensembl chr 4:115,981,037...116,017,046 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:32,126,321...32,145,017
Ensembl chr 2:32,126,602...32,145,017 		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 chr 2:180,828,615...180,830,297
Ensembl chr 2:180,829,040...180,830,564 		JBrowse link
G Prdm12 PR domain containing 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:31,526,767...31,545,798
Ensembl chr 2:31,530,049...31,545,807 		JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,542,796...116,557,196
Ensembl chr 4:116,542,741...116,558,019 		JBrowse link
G Prpf6 pre-mRNA splicing factor 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:181,243,112...181,297,454
Ensembl chr 2:181,233,661...181,297,453 		JBrowse link
G Prrc2b proline-rich coiled-coil 2B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:32,041,002...32,124,549
Ensembl chr 2:32,041,094...32,124,549 		JBrowse link
G Prrx2 paired related homeobox 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,735,076...30,771,263
Ensembl chr 2:30,724,984...30,771,263 		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 chr 8:96,285,694...96,302,965
Ensembl chr 8:96,285,697...96,302,968 		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 chr 8:95,301,568...95,328,483
Ensembl chr 8:95,300,766...95,328,625 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,953,253...116,973,298
Ensembl chr 4:116,953,272...116,973,298 		JBrowse link
G Ptdss2 phosphatidylserine synthase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,711,181...140,736,071
Ensembl chr 7:140,702,295...140,737,519 		JBrowse link
G Ptges prostaglandin E synthase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,779,483...30,793,309
Ensembl chr 2:30,779,483...30,819,875 		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 chr 2:32,285,902...32,292,752
Ensembl chr 2:32,285,908...32,295,784 		JBrowse link
G Ptk6 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 chr 2:180,836,917...180,845,408
Ensembl chr 2:180,835,514...180,844,582 		JBrowse link
G Ptpa protein phosphatase 2 protein activator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,306,062...30,337,819
Ensembl chr 2:30,306,051...30,337,818 		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 chr 2:32,665,760...32,667,609
Ensembl chr 2:32,665,798...32,667,609 		JBrowse link
G Qrfp pyroglutamylated RFamide peptide ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:31,696,180...31,700,592
Ensembl chr 2:31,696,178...31,700,592 		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 chr 2:33,023,431...33,261,569
Ensembl chr 2:33,023,429...33,261,498 		JBrowse link
G Rapgef1 Rap guanine nucleotide exchange factor (GEF) 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:29,509,732...29,630,376
Ensembl chr 2:29,509,732...29,630,990 		JBrowse link
G Rassf1 Ras association (RalGDS/AF-6) domain family member 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:107,428,752...107,439,460
Ensembl chr 9:107,428,754...107,439,466 		JBrowse link
G Rassf7 Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,795,338...140,798,571
Ensembl chr 7:140,795,773...140,798,571 		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 chr 2:179,917,039...179,931,693
Ensembl chr 2:179,919,439...179,931,672 		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 chr 9:107,617,694...107,648,228
Ensembl chr 9:107,617,570...107,648,195 		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 chr 9:107,650,758...107,751,028
Ensembl chr 9:107,650,758...107,750,436 		JBrowse link
G Rhog ras homolog family member G ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:101,888,330...101,899,325
Ensembl chr 7:101,888,330...101,905,261 		JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:107,928,869...107,957,183
Ensembl chr 9:107,928,733...107,960,545 		JBrowse link
G Rnf220 ring finger protein 220 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:117,128,660...117,354,249
Ensembl chr 4:117,128,660...117,354,249 		JBrowse link
G Rnh1 ribonuclease/angiogenin inhibitor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,740,239...140,752,764
Ensembl chr 7:140,740,239...140,752,770 		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 chr 2:32,851,724...32,854,057
Ensembl chr 2:32,851,571...32,855,357 		JBrowse link
G Rplp2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,027,564...141,031,272
Ensembl chr 7:141,027,283...141,031,498 		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 chr 2:179,899,172...179,900,237
Ensembl chr 2:179,899,170...179,900,238 		JBrowse link
G Rps8 ribosomal protein S8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:117,011,033...117,013,329
Ensembl chr 4:117,011,024...117,013,440 		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 chr 8:95,328,569...95,386,905
Ensembl chr 8:95,328,565...95,386,903 		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 chr 2:180,961,504...180,998,409
Ensembl chr 2:180,961,532...180,998,409 		JBrowse link
G Ryr3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:112,461,699...113,047,755
Ensembl chr 2:112,461,700...113,047,441 		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 chr 2:181,237,008...181,241,227
Ensembl chr 2:181,237,011...181,241,005 		JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha 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:1868258 PMID:1893099 PMID:9126059 PMID:9536098 PMID:9573403 More... NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184 		JBrowse link
G Scn2a sodium channel, voltage-gated, type II, alpha ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:15048894 PMID:15133511 PMID:16865694 PMID:17021166 PMID:17347258 More... NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791 		JBrowse link
G Scn3a sodium channel, voltage-gated, type III, alpha ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:10051516 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 More... NCBI chr 2:65,287,462...65,397,935
Ensembl chr 2:65,288,607...65,397,971 		JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha 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 chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819 		JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:66,310,424...66,465,456
Ensembl chr 2:66,310,424...66,465,306 		JBrowse link
G Sct secretin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,858,243...140,859,082
Ensembl chr 7:140,858,243...140,859,046 		JBrowse link
G Selenop selenoprotein P ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr15:3,300,249...3,309,992
Ensembl chr15:3,298,029...3,309,990 		JBrowse link
G Sema3b sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:107,474,868...107,486,440
Ensembl chr 9:107,474,873...107,486,428 		JBrowse link
G Sema3f sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:107,558,698...107,587,674
Ensembl chr 9:107,558,699...107,587,674 		JBrowse link
G Set SET nuclear oncogene ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:29,952,074...29,962,589
Ensembl chr 2:29,947,390...29,962,589 		JBrowse link
G Setd6 SET domain containing 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:96,442,211...96,448,135
Ensembl chr 8:96,442,509...96,445,638 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:29,013,600...29,072,483
Ensembl chr 2:29,014,193...29,072,483 		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 chr 2:32,611,072...32,645,008
Ensembl chr 2:32,611,067...32,645,524 		JBrowse link
G Sh3glb2 SH3-domain GRB2-like endophilin B2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,234,789...30,249,380
Ensembl chr 2:30,234,821...30,249,349 		JBrowse link
G Sigirr single immunoglobulin and toll-interleukin 1 receptor (TIR) domain ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,671,088...140,680,493
Ensembl chr 7:140,671,088...140,680,485 		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 chr 8:95,055,737...95,092,850
Ensembl chr 8:95,055,829...95,092,842 		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 chr 2:180,363,989...180,384,073
Ensembl chr 2:180,367,056...180,384,073 		JBrowse link
G Slc22a18 solute carrier family 22 (organic cation transporter), member 18 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:143,027,502...143,053,071
Ensembl chr 7:143,027,473...143,053,071 		JBrowse link
G Slc25a22 solute carrier family 25 (mitochondrial carrier, glutamate), 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 chr 7:141,009,662...141,017,787
Ensembl chr 7:141,009,657...141,017,805 		JBrowse link
G Slc25a25 solute carrier family 25 (mitochondrial carrier, phosphate carrier), 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 chr 2:32,304,499...32,341,482
Ensembl chr 2:32,304,499...32,341,457 		JBrowse link
G Slc27a4 solute carrier family 27 (fatty acid transporter), 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 chr 2:29,692,646...29,707,534
Ensembl chr 2:29,692,646...29,707,534 		JBrowse link
G Slc2a8 solute carrier family 2, (facilitated glucose transporter), 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 chr 2:32,862,993...32,872,088
Ensembl chr 2:32,863,002...32,872,095 		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 chr 9:107,528,353...107,546,167
Ensembl chr 9:107,527,833...107,546,729 		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 chr 8:96,562,548...96,580,205
Ensembl chr 8:96,562,548...96,580,167 		JBrowse link
G Slc6a9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 4:117,692,240...117,726,502
Ensembl chr 4:117,691,703...117,732,395 		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 chr 2:180,098,019...180,116,646
Ensembl chr 2:180,098,038...180,116,660 		JBrowse link
G Snap25 synaptosomal-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 chr 2:136,555,359...136,624,348
Ensembl chr 2:136,555,373...136,624,348 		JBrowse link
G Sox18 SRY (sex determining region Y)-box 18 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:181,311,630...181,313,433
Ensembl chr 2:181,311,629...181,313,433 		JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:28,582,092...28,589,663
Ensembl chr 2:28,582,092...28,589,739 		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 chr 8:96,038,148...96,053,239
Ensembl chr 8:96,037,194...96,052,951 		JBrowse link
G Spout1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,063,458...30,068,506
Ensembl chr 2:30,063,465...30,068,471 		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 chr 2:29,855,572...29,921,463
Ensembl chr 2:29,855,572...29,921,463 		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 chr 2:180,847,356...180,854,964
Ensembl chr 2:180,847,355...180,854,978 		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 chr 4:117,789,349...117,992,169
Ensembl chr 4:117,789,351...117,992,111 		JBrowse link
G St6galnac4 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-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 chr 2:32,477,100...32,489,710
Ensembl chr 2:32,477,107...32,489,710 		JBrowse link
G St6galnac6 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-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 chr 2:32,489,721...32,510,821
Ensembl chr 2:32,489,721...32,510,818 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:101,909,279...102,086,525
Ensembl chr 7:101,917,013...102,086,526 		JBrowse link
G Stmn3 stathmin-like 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr 2:180,948,252...180,956,293
Ensembl chr 2:180,948,252...180,956,293 		JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO 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 chr 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257 		JBrowse link
G Swi5 SWI5 recombination repair homolog (yeast) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 2:32,168,817...32,178,154
Ensembl chr 2:32,168,828...32,178,087 		JBrowse link
G Syt8 synaptotagmin VIII ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,988,195...141,994,136
Ensembl chr 7:141,988,587...141,994,133 		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 chr 4:118,219,937...118,266,483
Ensembl chr 4:118,219,940...118,266,470 		JBrowse link
G Taldo1 transaldolase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,972,073...140,982,889
Ensembl chr 7:140,972,112...140,982,881 		JBrowse link
G Tbc1d13 TBC1 domain family, member 13 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,023,742...30,042,024
Ensembl chr 2:30,023,758...30,042,025 		JBrowse link
G Tcfl5 transcription factor-like 5 (basic helix-loop-helix) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,263,749...180,284,540
Ensembl chr 2:180,263,749...180,284,501 		JBrowse link
G Tesk2 testis-specific kinase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,578,107...116,661,450
Ensembl chr 4:116,578,145...116,663,153 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865 		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 chr 9:107,411,144...107,415,855
Ensembl chr 9:107,411,144...107,415,872 		JBrowse link
G Tmem267 transmembrane protein 267 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr13:119,624,622...120,071,995
Ensembl chr13:119,624,575...120,072,595 		JBrowse link
G Tmem53 transmembrane protein 53 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:117,109,148...117,125,785
Ensembl chr 4:117,109,148...117,125,779 		JBrowse link
G Tmem63b transmembrane protein 63b ISO ClinVar Annotator: match by term: TMEM63B-associated disorder ClinVar PMID:25741868 PMID:37421948 NCBI chr17:45,971,102...45,997,212
Ensembl chr17:45,971,097...45,997,831 		JBrowse link
G Tmem69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,408,725...116,414,262
Ensembl chr 4:116,409,102...116,413,132 		JBrowse link
G Tmem80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:140,908,046...140,917,069
Ensembl chr 7:140,907,652...140,917,069 		JBrowse link
G Tnk2 tyrosine kinase, non-receptor, 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 NCBI chr16:32,462,699...32,502,311
Ensembl chr16:32,462,692...32,502,311 		JBrowse link
G Tnni2 troponin I, skeletal, fast 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,995,553...141,998,147
Ensembl chr 7:141,995,545...141,998,147 		JBrowse link
G Tnnt3 troponin T3, skeletal, fast ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:142,052,530...142,069,746
Ensembl chr 7:142,052,573...142,069,746 		JBrowse link
G Toe1 target of EGR1, member 1 (nuclear) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,661,199...116,664,785
Ensembl chr 4:116,651,507...116,664,837 		JBrowse link
G Tollip toll interacting protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,435,317...141,456,198
Ensembl chr 7:141,428,550...141,472,244 		JBrowse link
G Tor1a torsin family 1, member A (torsin A) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,850,573...30,857,930
Ensembl chr 2:30,850,639...30,857,945 		JBrowse link
G Tor1b torsin family 1, member B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,842,951...30,854,085
Ensembl chr 2:30,842,971...30,849,027 		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 chr 2:32,647,289...32,652,256
Ensembl chr 2:32,647,246...32,652,256 		JBrowse link
G Tpd52l2 tumor protein D52-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 chr 2:181,138,951...181,160,103
Ensembl chr 2:181,138,935...181,159,759 		JBrowse link
G Traip TRAF-interacting protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 9:107,828,158...107,849,469
Ensembl chr 9:107,827,335...107,849,469 		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 chr 7:142,625,266...142,648,379
Ensembl chr 7:142,622,890...142,648,379 		JBrowse link
G Trub2 TruB pseudouridine (psi) 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 chr 2:29,651,235...29,677,697
Ensembl chr 2:29,651,236...29,678,514 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,019,078...116,024,818
Ensembl chr 4:116,019,066...116,024,798 		JBrowse link
G Tspan32 tetraspanin 32 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:142,558,644...142,573,223
Ensembl chr 7:142,558,783...142,573,381 		JBrowse link
G Tspan4 tetraspanin 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:141,055,194...141,073,340
Ensembl chr 7:141,055,153...141,073,340 		JBrowse link
G Tssc4 tumor-suppressing subchromosomal transferable fragment 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:142,621,049...142,624,830
Ensembl chr 7:142,622,986...142,624,830 		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 chr 2:32,647,038...32,665,688
Ensembl chr 2:32,647,038...32,665,645 		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 chr 2:66,014,131...66,087,144
Ensembl chr 2:66,014,671...66,086,961 		JBrowse link
G Ttf1 transcription termination factor, RNA polymerase I ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:28,950,211...28,977,668
Ensembl chr 2:28,950,274...28,977,668 		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 chr 9:107,440,454...107,443,307
Ensembl chr 9:107,440,454...107,443,311 		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 chr 9:103,923,786...103,940,767
Ensembl chr 9:103,923,798...103,940,333 		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 chr 9:107,852,766...107,861,255
Ensembl chr 9:107,852,704...107,861,259 		JBrowse link
G Uck1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:32,145,014...32,150,117
Ensembl chr 2:32,145,014...32,150,171 		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 chr 2:181,210,942...181,223,820
Ensembl chr 2:181,210,942...181,226,685 		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 chr 2:29,717,401...29,735,008
Ensembl chr 2:29,710,087...29,735,014 		JBrowse link
G Urod uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,847,161...116,851,561
Ensembl chr 4:116,847,162...116,851,610 		JBrowse link
G Usb1 U6 snRNA biogenesis 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 8:96,058,006...96,074,137
Ensembl chr 8:96,058,912...96,074,135 		JBrowse link
G Usp20 ubiquitin specific peptidase 20 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:30,872,291...30,912,667
Ensembl chr 2:30,872,291...30,913,598 		JBrowse link
G Ythdf1 YTH N6-methyladenosine RNA binding protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:180,546,170...180,562,729
Ensembl chr 2:180,546,170...180,562,742 		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 chr 2:33,296,121...33,321,339
Ensembl chr 2:33,296,120...33,321,336 		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 chr 2:33,340,299...33,358,592
Ensembl chr 2:33,340,299...33,358,571 		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 chr 2:181,012,105...181,134,776
Ensembl chr 2:181,029,555...181,101,219 		JBrowse link
G Zdhhc12 zinc finger, DHHC domain containing 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:29,980,956...29,983,647
Ensembl chr 2:29,980,956...29,983,660 		JBrowse link
G Zer1 zyg-11 related, cell cycle regulator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:29,987,295...30,016,299
Ensembl chr 2:29,987,295...30,014,597 		JBrowse link
G Zfp131 zinc finger protein 131 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr13:120,226,722...120,253,070
Ensembl chr13:120,226,723...120,252,425 		JBrowse link
G Zfp319 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 chr 8:96,052,759...96,058,439
Ensembl chr 8:96,049,639...96,058,578 		JBrowse link
G Zfp512b zinc finger protein 512B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr 2:181,223,925...181,234,572
Ensembl chr 2:181,223,896...181,234,596 		JBrowse link
G Zgpat zinc finger, CCCH-type with G patch domain ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chr 2:181,006,724...181,022,586
Ensembl chr 2:181,006,721...181,025,421 		JBrowse link
G Zmynd10 zinc finger, MYND domain containing 10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 PMID:30410802 NCBI chr 9:107,424,067...107,428,520
Ensembl chr 9:107,424,497...107,428,518 		JBrowse link
G Zswim5 zinc finger SWIM-type containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 4:116,731,326...116,846,461
Ensembl chr 4:116,734,573...116,846,461 		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 anchor protein 4 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:6,933,754...6,944,848
Ensembl chr  X:6,933,758...6,944,848 		JBrowse link
G Araf Araf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:20,663,946...20,726,760
Ensembl chr  X:20,664,053...20,726,758 		JBrowse link
G Bmp15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:6,226,108...6,232,778
Ensembl chr  X:6,226,161...6,232,775 		JBrowse link
G Btbd35f6 BTB domain containing 35, family member 6 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:33,392,137...33,394,056
Ensembl chr  X:33,392,507...33,394,003 		JBrowse link
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:7,473,342...7,501,435
Ensembl chr  X:7,473,322...7,501,435 		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 chr  X:7,597,953...7,607,563
Ensembl chr  X:7,597,953...7,617,144 		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 chr  X:7,460,048...7,471,659
Ensembl chr  X:7,460,048...7,471,756 		JBrowse link
G Ccnb3 cyclin B3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:6,845,890...6,907,894
Ensembl chr  X:6,845,891...6,907,858 		JBrowse link
G Cdk16 cyclin dependent kinase 16 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:20,554,210...20,566,119
Ensembl chr  X:20,554,193...20,566,119 		JBrowse link
G Cfp complement factor properdin ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:20,791,693...20,797,794
Ensembl chr  X:20,791,693...20,797,794 		JBrowse link
G Clcn5 chloride channel, voltage-sensitive 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:7,020,049...7,185,597
Ensembl chr  X:7,020,049...7,185,597 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:6,691,103...6,814,602
Ensembl chr  X:6,690,410...6,814,602 		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 chr  X:8,051,568...8,059,751
Ensembl chr  X:8,051,568...8,059,751 		JBrowse link
G Elk1 ELK1, member of ETS oncogene family ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:20,799,634...20,816,847
Ensembl chr  X:20,799,634...20,816,847 		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 chr  X:7,790,515...7,794,846
Ensembl chr  X:7,790,515...7,794,846 		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 chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		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 chr  X:8,104,907...8,118,609
Ensembl chr  X:8,104,907...8,118,645 		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 chr  X:7,825,504...7,842,844
Ensembl chr  X:7,825,499...7,844,310 		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 chr  X:7,870,440...7,884,731
Ensembl chr  X:7,870,439...7,884,731 		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 chr  X:7,563,373...7,576,500
Ensembl chr  X:7,563,370...7,576,501 		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 chr  X:7,656,009...7,686,805
Ensembl chr  X:7,656,004...7,686,806 		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 chr  X:7,796,355...7,814,284
Ensembl chr  X:7,796,359...7,814,128 		JBrowse link
G Kcnd1 potassium voltage-gated channel, Shal-related family, member 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:7,686,907...7,704,517
Ensembl chr  X:7,688,528...7,704,519 		JBrowse link
G Magix MAGI family member, X-linked ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:7,539,405...7,547,490
Ensembl chr  X:7,539,403...7,547,490 		JBrowse link
G Mir500 microRNA 500 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:7,103,922...7,104,013
Ensembl chr  X:7,103,922...7,104,013 		JBrowse link
G Mir532 microRNA 532 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:7,114,641...7,114,736
Ensembl chr  X:7,114,641...7,114,736 		JBrowse link
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:20,481,565...20,483,858
Ensembl chr  X:20,481,565...20,483,858 		JBrowse link
G Nudt10 nudix hydrolase 10 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:6,080,750...6,085,321
Ensembl chr  X:6,080,750...6,085,069 		JBrowse link
G Otud5 OTU 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 chr  X:7,705,852...7,742,861
Ensembl chr  X:7,707,603...7,742,865 		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 chr  X:7,786,061...7,790,649
Ensembl chr  X:7,786,061...7,790,649 		JBrowse link
G Pim2 proviral integration site 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:7,744,545...7,749,671
Ensembl chr  X:7,744,501...7,749,671 		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 chr  X:7,534,180...7,537,629
Ensembl chr  X:7,534,180...7,537,629 		JBrowse link
G Porcn porcupine O-acyltransferase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:8,060,085...8,072,794
Ensembl chr  X:8,060,087...8,072,764 		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 chr  X:7,424,815...7,440,541
Ensembl chr  X:7,423,535...7,440,522 		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 chr  X:7,760,759...7,765,469
Ensembl chr  X:7,760,758...7,765,508 		JBrowse link
G Praf2 PRA1 domain family 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:7,594,810...7,597,302
Ensembl chr  X:7,594,678...7,597,303 		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 chr  X:7,523,616...7,535,086
Ensembl chr  X:7,523,499...7,534,425 		JBrowse link
G Rbm10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:20,483,596...20,517,128
Ensembl chr  X:20,483,742...20,517,140 		JBrowse link
G Rbm3 RNA binding motif (RNP1, RRM) protein 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:8,005,214...8,012,119
Ensembl chr  X:8,005,214...8,012,119 		JBrowse link
G Shroom4 shroom family member 4 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:6,312,012...6,549,508
Ensembl chr  X:6,311,908...6,549,502 		JBrowse link
G Slc35a2 solute carrier family 35 (UDP-galactose transporter), 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 chr  X:7,750,189...7,760,699
Ensembl chr  X:7,750,267...7,760,731 		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 chr  X:8,137,620...8,146,418
Ensembl chr  X:8,137,372...8,146,418 		JBrowse link
G Spaca5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:20,934,669...20,944,197
Ensembl chr  X:20,934,645...20,944,202 		JBrowse link
G Ssxa1 SSX member A1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:20,984,653...20,988,327
Ensembl chr  X:20,982,059...20,987,431 		JBrowse link
G Ssxb2 SSX member B2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:8,320,582...8,327,965
Ensembl chr  X:8,320,584...8,327,965 		JBrowse link
G Ssxb5 SSX member B5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:8,669,930...8,676,348
Ensembl chr  X:8,669,930...8,675,625 		JBrowse link
G Suv39h1 suppressor of variegation 3-9 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:7,927,401...7,940,994
Ensembl chr  X:7,927,410...7,940,999 		JBrowse link
G Syn1 synapsin I ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:20,726,750...20,787,157
Ensembl chr  X:20,726,750...20,787,243 		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 chr  X:7,504,819...7,519,495
Ensembl chr  X:7,504,710...7,519,495 		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 chr  X:8,020,709...8,042,420
Ensembl chr  X:8,020,711...8,042,420 		JBrowse link
G Tfe3 transcription factor E3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:7,628,769...7,641,441
Ensembl chr  X:7,628,799...7,641,441 		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 chr  X:7,765,575...7,773,891
Ensembl chr  X:7,765,596...7,776,168 		JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:20,736,524...20,740,972
Ensembl chr  X:20,736,405...20,740,974 		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 chr  X:20,524,660...20,549,420
Ensembl chr  X:20,524,565...20,549,418 		JBrowse link
G Usp11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:20,570,148...20,586,778
Ensembl chr  X:20,570,145...20,586,778 		JBrowse link
G Usp27x ubiquitin specific peptidase 27, X chromosome ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:7,238,830...7,242,069
Ensembl chr  X:7,237,513...7,242,069 		JBrowse link
G Uxt ubiquitously expressed prefoldin like chaperone ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:20,818,162...20,828,259
Ensembl chr  X:20,807,961...20,828,256 		JBrowse link
G Was Wiskott-Aldrich syndrome ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:7,947,705...7,956,730
Ensembl chr  X:7,947,692...7,956,737 		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 chr  X:7,989,540...7,999,134
Ensembl chr  X:7,989,540...7,999,131 		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 chr  X:7,588,212...7,594,439
Ensembl chr  X:7,580,572...7,594,445 		JBrowse link
G Zfp157 zinc finger protein 157 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr 5:138,439,721...138,459,162
Ensembl chr 5:138,439,730...138,458,956 		JBrowse link
G Zfp182 zinc finger protein 182 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:20,892,423...20,928,357
Ensembl chr  X:20,895,178...20,928,555 		JBrowse link
developmental and epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700030J22Rik RIKEN cDNA 1700030J22 gene ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 8:117,696,333...117,705,741
Ensembl chr 8:117,696,333...117,705,698 		JBrowse link
G Abca3 ATP-binding cassette, sub-family A member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr17:24,570,997...24,629,178
Ensembl chr17:24,570,924...24,629,175 		JBrowse link
G Aldh7a1 aldehyde dehydrogenase family 7, member A1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:23953072 PMID:25741868 PMID:28492532 NCBI chr18:56,657,794...56,706,112
Ensembl chr18:56,642,759...56,706,023 		JBrowse link
G Alg13 asparagine-linked glycosylation 13 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:143,100,962...143,157,446
Ensembl chr  X:143,100,800...143,157,446 		JBrowse link
G Amdhd2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr17:24,374,807...24,382,752
Ensembl chr17:24,374,807...24,382,740 		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 chr  X:94,092,536...94,240,801
Ensembl chr  X:94,092,541...94,240,462 		JBrowse link
G Arx aristaless related homeobox ISO
IMP		 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
CTD Direct Evidence: marker/mechanism
associated with Mental Retardation, X-Linked;DNA:insertion:cds:c.333_334ins(GCG)7 (human)		 OMIM
ClinVar
CTD
RGD		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 More... RGD:11565846, RGD:11565838 NCBI chr  X:92,330,113...92,341,963
Ensembl chr  X:92,330,051...92,341,963 		JBrowse link
G Atmin ATM interactor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 8:117,670,132...117,687,184
Ensembl chr 8:117,670,132...117,687,184 		JBrowse link
G Atp6v0c ATPase, H+ transporting, lysosomal V0 subunit C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr17:24,382,839...24,388,652
Ensembl chr17:24,382,840...24,388,676 		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 chr 8:117,822,590...117,860,459
Ensembl chr 8:117,822,593...117,860,459 		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 chr17:23,863,663...23,887,595
Ensembl chr17:23,879,480...23,887,595 		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 chr17:24,692,858...24,694,443
Ensembl chr17:24,692,858...24,694,443 		JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875 		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 chr 5:31,211,964...31,235,823
Ensembl chr 5:31,212,124...31,235,823 		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 chr17:24,706,871...24,727,883
Ensembl chr17:24,707,575...24,727,645 		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 chr17:24,441,518...24,470,333
Ensembl chr17:24,441,172...24,470,458 		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 chr  X:159,567,241...159,777,673
Ensembl chr  X:159,554,919...159,777,700 		JBrowse link
G Cdyl2 chromodomain protein, Y chromosome-like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 8:117,295,462...117,459,730
Ensembl chr 8:117,301,139...117,459,730 		JBrowse link
G Cenpn centromere protein N ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 8:117,648,448...117,668,243
Ensembl chr 8:117,648,469...117,668,246 		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 chr 8:46,387,980...46,428,290
Ensembl chr 8:46,406,643...46,428,477 		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 chr 7:73,076,400...73,191,494
Ensembl chr 7:73,076,386...73,191,578 		JBrowse link
G Cldn6 claudin 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr17:23,898,345...23,901,417
Ensembl chr17:23,898,223...23,901,420 		JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr17:23,901,558...23,903,000
Ensembl chr17:23,901,558...23,903,000 		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 chr 8:117,615,424...117,671,061
Ensembl chr 8:117,615,424...117,648,194 		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 chr 8:117,983,758...118,188,245
Ensembl chr 8:117,983,803...118,186,169 		JBrowse link
G Csnk1e casein kinase 1, epsilon ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr15:79,302,054...79,339,779
Ensembl chr15:79,302,056...79,339,767 		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 chr17:24,659,054...24,662,075
Ensembl chr17:24,659,055...24,662,079 		JBrowse link
G Dnm1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:30097719 PMID:32909139 PMID:36413998 NCBI chr 2:32,198,483...32,243,361
Ensembl chr 2:32,198,483...32,243,350 		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 chr 8:117,231,754...117,242,654
Ensembl chr 8:117,231,713...117,242,654 		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 chr17:24,662,752...24,674,366
Ensembl chr17:24,662,752...24,689,287 		JBrowse link
G Eci1 enoyl-Coenzyme A delta isomerase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr17:24,645,657...24,658,290
Ensembl chr17:24,645,615...24,658,322 		JBrowse link
G Elob elongin B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr17:24,043,714...24,048,083
Ensembl chr17:24,043,712...24,048,110 		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 chr17:25,111,126...25,114,061
Ensembl chr17:25,107,460...25,114,061 		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 chr17:25,067,866...25,069,276
Ensembl chr17:25,067,866...25,069,338 		JBrowse link
G Flywch1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr17:23,971,767...23,993,504
Ensembl chr17:23,971,767...23,990,576 		JBrowse link
G Flywch2 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr17:23,995,888...24,005,190
Ensembl chr17:23,995,890...24,005,055 		JBrowse link
G Gabrb3 GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 7:57,240,266...57,478,550
Ensembl chr 7:57,069,440...57,478,550 		JBrowse link
G Gan giant axonal neuropathy ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 8:117,884,720...117,932,573
Ensembl chr 8:117,884,874...117,942,736 		JBrowse link
G Gcsh glycine cleavage system protein H (aminomethyl carrier) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 8:117,708,706...117,720,237
Ensembl chr 8:117,708,549...117,720,276 		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 chr17:24,912,164...24,915,065
Ensembl chr17:24,912,161...24,915,503 		JBrowse link
G Gnao1 guanine nucleotide binding protein, alpha O ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 8:94,537,213...94,696,016
Ensembl chr 8:94,536,594...94,696,016 		JBrowse link
G Grin1 glutamate receptor, ionotropic, NMDA1 (zeta 1) ISO ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:25,181,189...25,209,199
Ensembl chr 2:25,181,193...25,209,199 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr17:25,056,863...25,083,424
Ensembl chr17:25,059,117...25,083,424 		JBrowse link
G Hcfc1r1 host cell factor C1 regulator 1 (XPO1-dependent) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr17:23,892,570...23,894,499
Ensembl chr17:23,892,570...23,894,201 		JBrowse link
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chr13:117,738,856...118,117,564
Ensembl chr13:117,738,856...118,123,954 		JBrowse link
G Hnrnpu heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr 1:178,148,673...178,170,063
Ensembl chr 1:178,148,673...178,165,362 		JBrowse link
G Hs3st6 heparan sulfate (glucosamine) 3-O-sulfotransferase 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr17:24,971,565...24,977,664
Ensembl chr17:24,971,962...24,977,658 		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 chr17:25,096,818...25,100,985
Ensembl chr17:25,084,971...25,100,984 		JBrowse link
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:26224535 PMID:28492532 NCBI chr 2:130,506,702...130,523,534
Ensembl chr 2:130,509,530...130,523,534 		JBrowse link
G Kcna2 potassium voltage-gated channel, shaker-related subfamily, 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 chr 3:106,998,203...107,022,321
Ensembl chr 3:107,008,462...107,022,321 		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 chr 2:180,717,372...180,777,368
Ensembl chr 2:180,717,372...180,777,093 		JBrowse link
G Kctd5 potassium channel tetramerisation domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr17:24,266,694...24,292,459
Ensembl chr17:24,266,708...24,292,459 		JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr17:23,960,173...23,965,305
Ensembl chr17:23,960,171...23,964,807 		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 chr 8:116,429,992...116,433,633
Ensembl chr 8:116,409,681...116,434,533 		JBrowse link
G Meiob meiosis specific with OB domains ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr17:25,023,275...25,058,762
Ensembl chr17:25,023,263...25,058,762 		JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr17:24,692,524...24,698,722
Ensembl chr17:24,692,525...24,698,052 		JBrowse link
G Mmp25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr17:23,847,289...23,864,006
Ensembl chr17:23,847,285...23,864,251 		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 chr17:25,114,094...25,115,263
Ensembl chr17:25,114,090...25,116,476 		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 chr17:24,955,567...24,961,752
Ensembl chr17:24,955,616...24,961,752 		JBrowse link
G Napb N-ethylmaleimide sensitive fusion protein attachment protein beta ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:33189936 NCBI chr 2:148,535,905...148,574,396
Ensembl chr 2:148,535,905...148,574,387 		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 chr17:24,941,034...24,943,397
Ensembl chr17:24,941,034...24,943,452 		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 chr17:24,858,255...24,869,279
Ensembl chr17:24,858,260...24,869,301 		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 chr17:24,915,208...24,919,504
Ensembl chr17:24,915,208...24,919,503 		JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr17:24,876,303...24,877,526
Ensembl chr17:24,876,304...24,877,431 		JBrowse link
G Nrxn2 neurexin II ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr19:6,468,786...6,583,247
Ensembl chr19:6,468,761...6,594,199 		JBrowse link
G Nthl1 nth (endonuclease III)-like 1 (E.coli) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr17:24,851,656...24,857,812
Ensembl chr17:24,851,654...24,857,811 		JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr17:24,422,805...24,428,361
Ensembl chr17:24,422,822...24,428,505 		JBrowse link
G Nubp2 nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr17:25,101,585...25,105,423
Ensembl chr17:25,101,585...25,105,323 		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 chr12:112,977,998...113,038,021
Ensembl chr12:112,978,128...113,038,021 		JBrowse link
G Paqr4 progestin and adipoQ receptor family member IV ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr17:23,955,160...23,959,873
Ensembl chr17:23,955,160...23,959,841 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr  X:132,483,609...132,589,802
Ensembl chr  X:132,483,609...132,589,736 		JBrowse link
G Pcyt1b phosphate cytidylyltransferase 1, choline, beta isoform ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:92,698,469...92,793,557
Ensembl chr  X:92,698,469...92,793,557 		JBrowse link
G Pdk3 pyruvate dehydrogenase kinase, isoenzyme 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:92,798,923...92,875,756
Ensembl chr  X:92,808,213...92,875,807 		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 chr17:24,292,654...24,370,957
Ensembl chr17:24,292,654...24,369,898 		JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr17:24,689,400...24,692,084
Ensembl chr17:24,689,366...24,692,084 		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 chr17:24,767,657...24,815,457
Ensembl chr17:24,768,808...24,815,482 		JBrowse link
G Pkd1l2 polycystic kidney disease 1 like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 8:117,722,089...117,809,227
Ensembl chr 8:117,722,418...117,809,188 		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 chr17:23,945,385...23,955,709
Ensembl chr17:23,945,310...23,955,709 		JBrowse link
G Plcb1 phospholipase C, beta 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 2:134,628,084...135,317,178
Ensembl chr 2:134,627,987...135,317,178 		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 chr 8:118,225,014...118,361,881
Ensembl chr 8:118,225,030...118,361,881 		JBrowse link
G Pola1 polymerase (DNA directed), alpha 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:92,348,372...92,675,993
Ensembl chr  X:92,348,373...92,675,761 		JBrowse link
G Prss21 serine protease 21 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr17:24,087,046...24,092,087
Ensembl chr17:24,087,030...24,092,088 		JBrowse link
G Prss22 serine protease 22 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr17:24,212,508...24,219,696
Ensembl chr17:24,212,508...24,217,074 		JBrowse link
G Prss27 serine protease 27 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr17:24,257,217...24,264,923
Ensembl chr17:24,257,118...24,264,928 		JBrowse link
G Prss33 serine protease 33 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr17:24,052,312...24,055,667
Ensembl chr17:24,052,321...24,055,030 		JBrowse link
G Prss41 serine protease 41 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr17:24,055,759...24,063,190
Ensembl chr17:24,055,759...24,063,146 		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 chr17:24,748,038...24,752,696
Ensembl chr17:24,746,215...24,753,184 		JBrowse link
G Reps2 RALBP1 associated Eps domain containing protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr  X:161,194,949...161,426,701
Ensembl chr  X:161,194,950...161,426,645 		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 chr17:24,934,813...24,937,031
Ensembl chr17:24,934,813...24,937,037 		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 chr17:24,633,620...24,644,872
Ensembl chr17:24,633,539...24,644,875 		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 chr17:24,946,800...24,955,117
Ensembl chr17:24,946,794...24,955,117 		JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr17:24,939,037...24,940,901
Ensembl chr17:24,937,090...24,940,903 		JBrowse link
G Rs1 retinoschisis (X-linked, juvenile) 1 (human) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr  X:159,548,815...159,584,800
Ensembl chr  X:159,551,009...159,582,659 		JBrowse link
G Sbpl spermine binding protein-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr17:24,172,059...24,174,247
Ensembl chr17:24,172,058...24,174,248 		JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha 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