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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:early infantile epileptic encephalopathy
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Accession:DOID:0050709 term browser browse the term
Definition:A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. (DO)
Synonyms:exact_synonym: DEVELOPMENTAL ENCEPHALOPATHY WITH EPILEPSY;   early infantile epileptic encephalopathy with burst-suppression
 alt_id: DOID:2481
 xref: EFO:1000643;   GARD:9255;   NCI:C122814;   ORDO:1934


show annotations for term's descendants           Sort by:
early infantile epileptic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD16B abhydrolase domain containing 16B IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,861,498...63,862,988
Ensembl chr20:63,861,498...63,862,988 		JBrowse link
G ADGRG1 adhesion G protein-coupled receptor G1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580 		JBrowse link
G ADGRG3 adhesion G protein-coupled receptor G3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,665,629...57,689,378
Ensembl chr16:57,668,277...57,689,378 		JBrowse link
G ADGRG5 adhesion G protein-coupled receptor G5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,529,073...57,577,189
Ensembl chr16:57,542,643...57,591,681 		JBrowse link
G ADRM1 ADRM1 26S proteasome ubiquitin receptor IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,302,896...62,308,862
Ensembl chr20:62,302,093...62,308,862 		JBrowse link
G AK1 adenylate kinase 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:127,866,480...127,879,621
Ensembl chr 9:127,866,486...127,877,675 		JBrowse link
G AKR1A1 aldo-keto reductase family 1 member A1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:45,550,826...45,570,049
Ensembl chr 1:45,550,543...45,570,049 		JBrowse link
G AL162586.1 novel transcript IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,816,066...127,822,520
Ensembl chr 9:127,816,066...127,822,520 		JBrowse link
G AMFR autocrine motility factor receptor IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,361,452...56,425,545
Ensembl chr16:56,361,452...56,425,545 		JBrowse link
G AMIGO3 adhesion molecule with Ig like domain 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:49,716,829...49,719,684
Ensembl chr 3:49,716,829...49,719,684 		JBrowse link
G ANGPTL2 angiopoietin like 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,087,348...127,122,635
Ensembl chr 9:127,087,348...127,122,635 		JBrowse link
G ANO4 anoctamin 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 NCBI chr12:100,717,261...101,128,641
Ensembl chr12:100,717,526...101,128,641 		JBrowse link
G ANO9 anoctamin 9 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:417,938...442,011
Ensembl chr11:417,933...442,011 		JBrowse link
G AP2A2 adaptor related protein complex 2 subunit alpha 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:925,870...1,012,240
Ensembl chr11:924,881...1,012,245 		JBrowse link
G APEH acylaminoacyl-peptide hydrolase IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:49,673,117...49,683,971
Ensembl chr 3:49,674,014...49,683,971 		JBrowse link
G ARFGAP1 ADP ribosylation factor GTPase activating protein 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,272,813...63,289,790
Ensembl chr20:63,272,785...63,289,790 		JBrowse link
G ARFRP1 ADP ribosylation factor related protein 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,698,647...63,707,976
Ensembl chr20:63,698,642...63,708,025 		JBrowse link
G ARHGEF15 Rho guanine nucleotide exchange factor 15 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23647072 PMID:25741868 More... NCBI chr17:8,310,241...8,322,511
Ensembl chr17:8,310,241...8,322,514 		JBrowse link
G ARL2BP ADP ribosylation factor like GTPase 2 binding protein IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,245,259...57,253,635
Ensembl chr16:57,245,259...57,253,635 		JBrowse link
G ARMH1 armadillo like helical domain containing 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:44,674,714...44,725,591
Ensembl chr 1:44,674,692...44,725,591 		JBrowse link
G ART1 ADP-ribosyltransferase 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:3,645,128...3,664,416
Ensembl chr11:3,645,128...3,664,416 		JBrowse link
G ART5 ADP-ribosyltransferase 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:3,638,512...3,642,379
Ensembl chr11:3,638,512...3,642,316 		JBrowse link
G ARTN artemin IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 NCBI chr 1:43,933,801...43,937,240
Ensembl chr 1:43,933,320...43,937,240 		JBrowse link
G ARX aristaless related homeobox ISS OMIM:300088 | OMIM:300607 | OMIM:300672 | OMIM:308350 | OMIM:609304 | OMIM:612164 | OMIM:613402 | OMIM:613477 | OMIM:613720 | OMIM:613721 | OMIM:613722 | OMIM:614558 | OMIM:614959 | OMIM:615006 | OMIM:615338 | OMIM:615473 | OMIM:615476 MouseDO NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ASCL2 achaete-scute family bHLH transcription factor 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,268,498...2,270,588
Ensembl chr11:2,268,498...2,270,588 		JBrowse link
G ATP6V0B ATPase H+ transporting V0 subunit b IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 NCBI chr 1:43,974,960...43,978,295
Ensembl chr 1:43,974,487...43,978,295 		JBrowse link
G B4GALNT4 beta-1,4-N-acetyl-galactosaminyltransferase 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:369,499...382,117
Ensembl chr11:369,499...382,117 		JBrowse link
G B4GALT2 beta-1,4-galactosyltransferase 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 NCBI chr 1:43,979,210...43,991,171
Ensembl chr 1:43,978,943...43,991,170 		JBrowse link
G BBLN bublin coiled coil protein IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:128,160,265...128,163,924
Ensembl chr 9:128,160,265...128,163,924 		JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667 		JBrowse link
G BEST4 bestrophin 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:44,781,840...44,792,828
Ensembl chr 1:44,783,585...44,788,170 		JBrowse link
G BHLHE23 basic helix-loop-helix family member e23 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,005,927...63,006,964
Ensembl chr20:63,005,927...63,007,035 		JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,235,905...63,240,495
Ensembl chr20:63,235,883...63,240,495 		JBrowse link
G BRSK2 BR serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,389,934...1,462,689
Ensembl chr11:1,389,899...1,462,689 		JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845 		JBrowse link
G BSN bassoon presynaptic cytomatrix protein IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:49,554,477...49,673,130
Ensembl chr 3:49,554,477...49,671,549 		JBrowse link
G BTBD19 BTB domain containing 19 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:44,808,523...44,815,585
Ensembl chr 1:44,808,523...44,815,585 		JBrowse link
G C11orf21 chromosome 11 open reading frame 21 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,295,628...2,303,140
Ensembl chr11:2,295,628...2,303,049 		JBrowse link
G C3orf18 chromosome 3 open reading frame 18 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,558,025...50,574,700
Ensembl chr 3:50,558,025...50,571,027 		JBrowse link
G CABLES2 Cdk5 and Abl enzyme substrate 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,388,634...62,407,285
Ensembl chr20:62,388,634...62,407,285 		JBrowse link
G CACNA1E calcium voltage-gated channel subunit alpha1 E IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:17660294 PMID:23934111 PMID:25741868 PMID:26680202 PMID:28135719 More... NCBI chr 1:181,317,699...181,808,084
Ensembl chr 1:181,317,690...181,813,262 		JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 More... NCBI chr 3:50,362,613...50,504,244
Ensembl chr 3:50,362,613...50,504,244 		JBrowse link
G CAMKV CaM kinase like vesicle associated IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:49,857,989...49,869,906
Ensembl chr 3:49,857,988...49,869,935 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CCDC102A coiled-coil domain containing 102A IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,512,181...57,537,016
Ensembl chr16:57,512,181...57,536,571 		JBrowse link
G CCDC17 coiled-coil domain containing 17 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:45,620,044...45,624,054
Ensembl chr 1:45,620,044...45,624,057 		JBrowse link
G CCDC24 coiled-coil domain containing 24 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 NCBI chr 1:43,991,599...43,996,528
Ensembl chr 1:43,991,359...43,996,528 		JBrowse link
G CCL17 C-C motif chemokine ligand 17 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,396,093...57,416,063
Ensembl chr16:57,404,767...57,416,063 		JBrowse link
G CCL22 C-C motif chemokine ligand 22 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189 		JBrowse link
G CD151 CD151 molecule (Raph blood group) IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:832,952...838,831
Ensembl chr11:832,887...839,831 		JBrowse link
G CD81 CD81 molecule IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,376,180...2,397,397
Ensembl chr11:2,376,177...2,397,802 		JBrowse link
G CDHR4 cadherin related family member 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:49,790,732...49,802,914
Ensembl chr 3:49,790,732...49,799,873 		JBrowse link
G CDHR5 cadherin related family member 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:616,583...624,955
Ensembl chr11:616,577...626,078 		JBrowse link
G CDK9 cyclin dependent kinase 9 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:127,786,034...127,790,792
Ensembl chr 9:127,785,679...127,790,792 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 PMID:32366967 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CEND1 cell cycle exit and neuronal differentiation 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:787,115...790,090
Ensembl chr11:787,115...790,113 		JBrowse link
G CERCAM cerebral endothelial cell adhesion molecule IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,419,160...128,437,351
Ensembl chr 9:128,411,751...128,437,351 		JBrowse link
G CETP cholesteryl ester transfer protein IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,961,950...56,983,845
Ensembl chr16:56,961,923...56,983,845 		JBrowse link
G CFAP157 cilia and flagella associated protein 157 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:127,706,988...127,716,002
Ensembl chr 9:127,706,988...127,716,002 		JBrowse link
G CFAP20 cilia and flagella associated protein 20 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,113,592...58,129,381
Ensembl chr16:58,113,592...58,129,381 		JBrowse link
G CFAP263 cilia and flagella associated protein 263 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,249,936...58,283,836
Ensembl chr16:58,231,157...58,283,836 		JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar NCBI chr15:92,900,324...93,027,996
Ensembl chr15:92,886,203...93,027,996 		JBrowse link
G CHID1 chitinase domain containing 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:867,859...915,214
Ensembl chr11:867,859...915,058 		JBrowse link
G CHRNA10 cholinergic receptor nicotinic alpha 10 subunit IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:3,665,587...3,671,384
Ensembl chr11:3,665,587...3,671,384 		JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr20:63,343,223...63,361,349
Ensembl chr20:63,343,223...63,378,401 		JBrowse link
G CIAPIN1 cytokine induced apoptosis inhibitor 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,428,187...57,447,385
Ensembl chr16:57,428,187...57,447,420 		JBrowse link
G CISH cytokine inducible SH2 containing protein IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,606,489...50,611,774
Ensembl chr 3:50,606,489...50,611,774 		JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383 		JBrowse link
G CNGB1 cyclic nucleotide gated channel subunit beta 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,882,340...57,971,128
Ensembl chr16:57,882,340...57,971,128 		JBrowse link
G CNOT1 CCR4-NOT transcription complex subunit 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885 		JBrowse link
G COL20A1 collagen type XX alpha 1 chain IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,293,186...63,334,806
Ensembl chr20:63,293,186...63,334,851 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G COQ4 coenzyme Q4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,322,839...128,334,072
Ensembl chr 9:128,322,544...128,334,072 		JBrowse link
G COQ9 coenzyme Q9 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,447,479...57,461,270
Ensembl chr16:57,447,425...57,461,270 		JBrowse link
G CPNE2 copine 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,092,583...57,148,369
Ensembl chr16:57,092,583...57,148,369 		JBrowse link
G CRACR2B calcium release activated channel regulator 2B IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:826,157...831,991
Ensembl chr11:826,144...831,991 		JBrowse link
G CSNK2A2 casein kinase 2 alpha 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,157,907...58,198,106
Ensembl chr16:58,157,907...58,198,106 		JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,469,698...165,689,407
Ensembl chr 2:165,469,647...165,689,407 		JBrowse link
G CTSD cathepsin D IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573 		JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044 		JBrowse link
G CYB561D2 cytochrome b561 family member D2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 More... NCBI chr 3:50,365,363...50,368,197
Ensembl chr 3:50,350,845...50,358,460 		JBrowse link
G CYB561D2 cytochrome b561 family member D2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 More... NCBI chr 3:50,350,862...50,368,197
Ensembl chr 3:50,350,845...50,358,460 		JBrowse link
G DAG1 dystroglycan 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DEAF1 DEAF1 transcription factor IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G DIDO1 death inducer-obliterator 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,877,743...62,937,904
Ensembl chr20:62,877,738...62,937,952 		JBrowse link
G DMAP1 DNA methyltransferase 1 associated protein 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:44,213,471...44,220,673
Ensembl chr 1:44,213,455...44,220,681 		JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,895,126...63,936,011
Ensembl chr20:63,895,126...63,936,031 		JBrowse link
G DNM1 dynamin 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G DOK4 docking protein 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,471,922...57,487,322
Ensembl chr16:57,471,922...57,487,327 		JBrowse link
G DPH2 diphthamide biosynthesis 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854 		JBrowse link
G DRC7 dynein regulatory complex subunit 7 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,694,806...57,731,805
Ensembl chr16:57,694,793...57,731,805 		JBrowse link
G DRD4 dopamine receptor D4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:637,269...640,706
Ensembl chr11:637,269...640,706 		JBrowse link
G DUSP8 dual specificity phosphatase 8 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,554,051...1,572,848
Ensembl chr11:1,554,051...1,572,271 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22722545 PMID:24183449 PMID:24183451 PMID:28379358 PMID:28492532 More... NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847 		JBrowse link
G DYNLT4 dynein light chain Tctex-type 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:44,805,893...44,807,351
Ensembl chr 1:44,805,893...44,807,351 		JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239 		JBrowse link
G EEIG1 estrogen-induced osteoclastogenesis regulator 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:127,940,582...127,980,989
Ensembl chr 9:127,940,582...127,980,989 		JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:44,850,522...44,986,595
Ensembl chr 1:44,850,522...44,986,722 		JBrowse link
G ENG endoglin IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658 		JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:706,231...727,727
Ensembl chr11:694,438...727,727 		JBrowse link
G ERI3 ERI1 exoribonuclease family member 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:44,221,070...44,355,279
Ensembl chr 1:44,221,070...44,355,260 		JBrowse link
G FGF10 fibroblast growth factor 10 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706 		JBrowse link
G FNDC11 fibronectin type III domain containing 11 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr20:63,553,020...63,556,708
Ensembl chr20:63,547,891...63,556,695 		JBrowse link
G FPGS folylpolyglutamate synthase IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:127,802,858...127,814,506
Ensembl chr 9:127,794,597...127,814,327 		JBrowse link
G GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 PMID:29422393 NCBI chr 4:46,243,548...46,390,300
Ensembl chr 4:46,243,548...46,475,230 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,794,659 		JBrowse link
G GARNL3 GTPase activating Rap/RanGAP domain like 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,224,613...127,393,660
Ensembl chr 9:127,224,265...127,393,660 		JBrowse link
G GATA5 GATA binding protein 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995 		JBrowse link
G GATD1 glutamine amidotransferase class 1 domain containing 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:767,222...777,487
Ensembl chr11:767,220...777,488 		JBrowse link
G GID8 GID complex subunit 8 homolog IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,938,147...62,948,475
Ensembl chr20:62,938,147...62,948,475 		JBrowse link
G GINS3 GINS complex subunit 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,392,471...58,406,147
Ensembl chr16:58,295,080...58,406,147 		JBrowse link
G GLE1 GLE1 RNA export mediator IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874 		JBrowse link
G GMEB2 glucocorticoid modulatory element binding protein 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr20:63,587,605...63,627,101
Ensembl chr20:63,587,602...63,627,101 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GNAI2 G protein subunit alpha i2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362 		JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:8521505 PMID:9108480 PMID:9536098 PMID:10419452 PMID:10615050 More... NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,191,390...56,357,444 		JBrowse link
G GNAO1-AS1 GNAO1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:56,192,617...56,194,525
Ensembl chr16:56,192,614...56,194,518 		JBrowse link
G GNAT1 G protein subunit alpha transducin 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,191,610...50,197,696
Ensembl chr 3:50,191,610...50,197,696 		JBrowse link
G GOLGA2 golgin A2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,255,829...128,276,007
Ensembl chr 9:128,255,829...128,276,026 		JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 IAGP
ISS		 ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar
MouseDO		 PMID:11285252 PMID:20177705 PMID:24608809 PMID:25741868 PMID:26518167 More... NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342 		JBrowse link
G GPBP1L1 GC-rich promoter binding protein 1 like 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:45,627,304...45,688,110
Ensembl chr 1:45,627,304...45,688,113 		JBrowse link
G H19 H19 imprinted maternally expressed transcript IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552 		JBrowse link
G HAR1A highly accelerated region 1A IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,101,292...63,104,386
Ensembl chr20:63,102,205...63,104,386 		JBrowse link
G HAR1B highly accelerated region 1B IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,095,493...63,102,319
Ensembl chr20:63,090,806...63,102,631 		JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:17931874 PMID:20437590 PMID:22131395 More... NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498 		JBrowse link
G HECTD3 HECT domain E3 ubiquitin protein ligase 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:45,002,548...45,011,324
Ensembl chr 1:45,002,540...45,011,324 		JBrowse link
G HELZ2 helicase with zinc finger 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr20:63,558,086...63,574,239
Ensembl chr20:63,558,086...63,574,239 		JBrowse link
G HEMK1 HemK methyltransferase family member 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,569,180...50,596,166
Ensembl chr 3:50,569,152...50,596,168 		JBrowse link
G HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,932,142...56,944,864
Ensembl chr16:56,932,142...56,944,864 		JBrowse link
G HNRNPUL2-BSCL2 HNRNPUL2-BSCL2 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 NCBI chr11:62,690,262...62,727,384
Ensembl chr11:62,690,275...62,727,384 		JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321 		JBrowse link
G HYAL1 hyaluronidase 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381 		JBrowse link
G HYAL2 hyaluronidase 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,317,808...50,322,745
Ensembl chr 3:50,317,790...50,322,782 		JBrowse link
G HYAL3 hyaluronidase 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,292,832...50,299,405
Ensembl chr 3:50,292,831...50,299,405 		JBrowse link
G IFITM1 interferon induced transmembrane protein 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:314,040...315,272
Ensembl chr11:310,041...315,272 		JBrowse link
G IFITM10 interferon induced transmembrane protein 10 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,732,406...1,750,595
Ensembl chr11:1,732,406...1,750,595 		JBrowse link
G IFITM2 interferon induced transmembrane protein 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:307,816...309,395
Ensembl chr11:303,655...309,397 		JBrowse link
G IFITM3 interferon induced transmembrane protein 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:319,676...320,860
Ensembl chr11:319,676...329,475 		JBrowse link
G IFITM5 interferon induced transmembrane protein 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526 		JBrowse link
G IFRD2 interferon related developmental regulator 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,287,732...50,292,429
Ensembl chr 3:50,287,732...50,292,918 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IGF2-AS IGF2 antisense RNA IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,140,512...2,148,666
Ensembl chr11:2,140,501...2,148,666 		JBrowse link
G INKA1 inka box actin regulator 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:49,803,261...49,805,030
Ensembl chr 3:49,803,261...49,805,030 		JBrowse link
G INS insulin IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G INS-IGF2 INS-IGF2 readthrough IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,129,117...2,161,209
Ensembl chr11:2,132,538...2,161,209 		JBrowse link
G IP6K1 inositol hexakisphosphate kinase 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:49,724,294...49,786,542
Ensembl chr 3:49,724,294...49,786,542 		JBrowse link
G IPO13 importin 13 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 NCBI chr 1:43,946,950...43,968,022
Ensembl chr 1:43,946,950...43,968,022 		JBrowse link
G IPP intracisternal A particle-promoted polypeptide IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:45,694,324...45,750,653
Ensembl chr 1:45,694,324...45,750,653 		JBrowse link
G IRF7 interferon regulatory factor 7 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:612,555...615,950
Ensembl chr11:612,553...615,983 		JBrowse link
G ITPA inosine triphosphatase IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:26224535 NCBI chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870 		JBrowse link
G KATNB1 katanin regulatory subunit B1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244 		JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar Annotator: match by term: developmental encephalopathy with epilepsy		 ClinVar PMID:25741868 PMID:26477325 PMID:28252636 PMID:28492532 PMID:28806457 More... NCBI chr20:49,363,877...49,483,362
Ensembl chr20:49,293,394...49,484,297 		JBrowse link
G KCNC2 potassium voltage-gated channel subfamily C member 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar NCBI chr12:75,040,078...75,209,839
Ensembl chr12:75,040,077...75,209,839 		JBrowse link
G KCNH5 potassium voltage-gated channel subfamily H member 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23647072 PMID:24133262 More... NCBI chr14:62,699,464...63,045,458
Ensembl chr14:62,699,464...63,102,037 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KCNQ1DN KCNQ1 downstream neighbor IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,870,033...2,872,105
Ensembl chr11:2,870,033...2,872,105 		JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:2847176 PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 More... NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G KCNQ2-AS1 KCNQ2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:28492532 NCBI chr20:63,448,441...63,449,390 JBrowse link
G KIF2C kinesin family member 2C IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:44,739,837...44,767,767
Ensembl chr 1:44,739,818...44,767,767 		JBrowse link
G KIFC3 kinesin family member C3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,758,217...57,862,858
Ensembl chr16:57,758,217...57,863,053 		JBrowse link
G KLF17 KLF transcription factor 17 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:44,043,927...44,135,140
Ensembl chr 1:44,118,821...44,135,140 		JBrowse link
G KRTAP5-1 keratin associated protein 5-1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,584,342...1,585,283
Ensembl chr11:1,584,342...1,585,283 		JBrowse link
G KRTAP5-2 keratin associated protein 5-2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,597,177...1,598,294
Ensembl chr11:1,597,177...1,598,294 		JBrowse link
G KRTAP5-3 keratin associated protein 5-3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,607,565...1,608,463
Ensembl chr11:1,607,565...1,608,463 		JBrowse link
G KRTAP5-4 keratin associated protein 5-4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,620,958...1,622,138
Ensembl chr11:1,620,958...1,622,138 		JBrowse link
G KRTAP5-5 keratin associated protein 5-5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,629,775...1,630,930
Ensembl chr11:1,629,775...1,630,930 		JBrowse link
G KRTAP5-6 keratin associated protein 5-6 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,697,195...1,697,755
Ensembl chr11:1,697,195...1,697,755 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G LCN2 lipocalin 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453 		JBrowse link
G LIME1 Lck interacting transmembrane adaptor 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,735,701...63,739,103
Ensembl chr20:63,736,283...63,739,103 		JBrowse link
G LMNTD2 lamin tail domain containing 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:554,850...560,738
Ensembl chr11:554,850...560,738 		JBrowse link
G LMNTD2-AS1 LMNTD2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:559,262...560,107
Ensembl chr11:557,595...560,107 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOC100506124 uncharacterized LOC100506124 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,857,475...165,871,941 JBrowse link
G LOC101929270 uncharacterized LOC101929270 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,528,611...128,552,413 JBrowse link
G LOC106783495 conserved acetylation island sequence 15 enhancer IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,980,006...127,980,137 JBrowse link
G LOC113839510 H3K4me1 hESC enhancer GRCh37_chr9:130504225-130504852 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,741,946...127,742,573 JBrowse link
G LOC113839511 Sharpr-MPRA regulatory region 7866 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,785,480...127,786,164 JBrowse link
G LOC113839512 Sharpr-MPRA regulatory region 2041 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,786,170...127,786,584 JBrowse link
G LOC113839513 Sharpr-MPRA regulatory region 6856 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,965,530...127,965,824 JBrowse link
G LOC113839514 Sharpr-MPRA regulatory region 5179 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,048,630...128,048,946 JBrowse link
G LOC113839515 Sharpr-MPRA regulatory region 4689 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,115,590...128,115,884 JBrowse link
G LOC113839516 H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:130980103-130981059 and GRCh37_chr9:130981060-130982015 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,217,824...128,219,736 JBrowse link
G LOC113839517 Sharpr-MPRA regulatory region 14380 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,307,250...128,307,544 JBrowse link
G LOC113839524 Sharpr-MPRA regulatory region 9551 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,495,830...128,496,124 JBrowse link
G LOC114803470 SCN8A eExon liver enhancer IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16199547 PMID:19254928 PMID:25741868 PMID:27875746 PMID:28492532 More... NCBI chr12:51,662,737...51,663,319 JBrowse link
G LOC114827831 VISTA enhancer hs2342 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,661,222...127,662,040 JBrowse link
G LOC116216099 CRISPRi-validated cis-regulatory element chr9.2869 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,862,062...127,863,104 JBrowse link
G LOC116216100 CRISPRi-validated cis-regulatory element chr9.2942 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,142,126...128,142,299 JBrowse link
G LOC120977013 Sharpr-MPRA regulatory region 13511 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,293,739...165,294,033 JBrowse link
G LOC124310649 Sharpr-MPRA regulatory region 4407 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,864,970...127,865,287 JBrowse link
G LOC124310650 Sharpr-MPRA regulatory region 6524 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,867,473...127,868,004 JBrowse link
G LOC124310651 Sharpr-MPRA regulatory region 4771 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,087,310...128,087,604 JBrowse link
G LOC124310652 Sharpr-MPRA regulatory region 9989 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,204,010...128,204,304 JBrowse link
G LOC124310653 Sharpr-MPRA regulatory region 12606 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,306,070...128,306,364 JBrowse link
G LOC124310654 Sharpr-MPRA regulatory region 290 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,554,550...128,554,844 JBrowse link
G LOC125387319 Sharpr-MPRA regulatory region 327 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:28492532 NCBI chr20:63,409,896...63,410,190 JBrowse link
G LOC126806396 BRD4-independent group 4 enhancer GRCh37_chr2:166317128-166318327 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,460,618...165,461,817 JBrowse link
G LOC126807381 MED14-independent group 3 enhancer GRCh37_chr5:45385335-45386534 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:45,385,233...45,386,432 JBrowse link
G LOC126860771 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:130685680-130686879 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,923,401...127,924,600 JBrowse link
G LOC126860772 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:131396972-131398171 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24183449 PMID:24183451 PMID:28379358 PMID:28492532 PMID:33578420 NCBI chr 9:128,634,693...128,635,892 JBrowse link
G LOC127898564 CYB561D2-LOC101928965 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 More... NCBI chr 3:50,350,862...50,368,197 JBrowse link
G LOC129388938 MPRA-validated peak3912 silencer IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,574,005...165,574,205 JBrowse link
G LOC129390114 MPRA-validated peak7335 silencer IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,156,316...128,156,516 JBrowse link
G LOC129391211 MPRA-validated peak4316 silencer IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:28492532 NCBI chr20:63,461,443...63,461,643 JBrowse link
G LOC129391212 MPRA-validated peak4318 silencer IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:27779742 More... NCBI chr20:63,475,487...63,475,687 JBrowse link
G LOC129935043 ATAC-STARR-seq lymphoblastoid silent region 12066 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More...
G LOC129935044 ATAC-STARR-seq lymphoblastoid active region 16726 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More...
G LOC129935045 ATAC-STARR-seq lymphoblastoid active region 16727 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More...
G LOC129935046 ATAC-STARR-seq lymphoblastoid active region 16728 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More...
G LOC129935047 ATAC-STARR-seq lymphoblastoid active region 16729 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More...
G LOC130002651 ATAC-STARR-seq lymphoblastoid silent region 20307 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16199547 PMID:20887364 PMID:22368301 PMID:25658047 PMID:25741868 More... NCBI chr 9:127,611,998...127,612,587 JBrowse link
G LOC130002652 ATAC-STARR-seq lymphoblastoid active region 29044 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,650,711...127,650,840 JBrowse link
G LOC130002653 ATAC-STARR-seq lymphoblastoid active region 29045 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,715,304...127,715,363 JBrowse link
G LOC130002654 ATAC-STARR-seq lymphoblastoid active region 29046 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,715,434...127,715,813 JBrowse link
G LOC130002655 ATAC-STARR-seq lymphoblastoid active region 29047 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,715,864...127,715,923 JBrowse link
G LOC130002656 ATAC-STARR-seq lymphoblastoid silent region 20308 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,734,998...127,735,287 JBrowse link
G LOC130002657 ATAC-STARR-seq lymphoblastoid silent region 20309 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,771,261...127,771,750 JBrowse link
G LOC130002658 ATAC-STARR-seq lymphoblastoid active region 29049 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,777,739...127,777,828 JBrowse link
G LOC130002659 ATAC-STARR-seq lymphoblastoid active region 29050 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,779,074...127,779,423 JBrowse link
G LOC130002660 ATAC-STARR-seq lymphoblastoid active region 29052 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,784,840...127,785,059 JBrowse link
G LOC130002661 ATAC-STARR-seq lymphoblastoid silent region 20310 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,785,110...127,785,429 JBrowse link
G LOC130002662 ATAC-STARR-seq lymphoblastoid active region 29053 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,796,883...127,796,972 JBrowse link
G LOC130002663 ATAC-STARR-seq lymphoblastoid silent region 20313 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,802,719...127,803,118 JBrowse link
G LOC130002664 ATAC-STARR-seq lymphoblastoid active region 29056 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,866,807...127,866,866 JBrowse link
G LOC130002665 ATAC-STARR-seq lymphoblastoid silent region 20314 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,897,408...127,897,477 JBrowse link
G LOC130002666 ATAC-STARR-seq lymphoblastoid silent region 20315 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,899,550...127,899,779 JBrowse link
G LOC130002667 ATAC-STARR-seq lymphoblastoid silent region 20316 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,902,735...127,902,824 JBrowse link
G LOC130002668 ATAC-STARR-seq lymphoblastoid active region 29057 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,903,877...127,904,146 JBrowse link
G LOC130002669 ATAC-STARR-seq lymphoblastoid active region 29058 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,911,224...127,911,433 JBrowse link
G LOC130002670 ATAC-STARR-seq lymphoblastoid active region 29059 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,915,409...127,915,518 JBrowse link
G LOC130002671 ATAC-STARR-seq lymphoblastoid active region 29060 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,915,589...127,915,748 JBrowse link
G LOC130002672 ATAC-STARR-seq lymphoblastoid active region 29061 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,915,829...127,916,008 JBrowse link
G LOC130002673 ATAC-STARR-seq lymphoblastoid silent region 20317 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,916,931...127,917,290 JBrowse link
G LOC130002674 ATAC-STARR-seq lymphoblastoid silent region 20318 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,930,541...127,930,860 JBrowse link
G LOC130002675 ATAC-STARR-seq lymphoblastoid active region 29062 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,937,808...127,938,117 JBrowse link
G LOC130002676 ATAC-STARR-seq lymphoblastoid active region 29063 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,977,394...127,977,483 JBrowse link
G LOC130002677 ATAC-STARR-seq lymphoblastoid silent region 20319 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,980,486...127,981,295 JBrowse link
G LOC130002678 ATAC-STARR-seq lymphoblastoid active region 29064 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,983,825...127,983,974 JBrowse link
G LOC130002679 ATAC-STARR-seq lymphoblastoid active region 29065 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,007,630...128,007,869 JBrowse link
G LOC130002680 ATAC-STARR-seq lymphoblastoid active region 29066 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,008,170...128,008,229 JBrowse link
G LOC130002681 ATAC-STARR-seq lymphoblastoid active region 29067 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,028,732...128,028,901 JBrowse link
G LOC130002682 ATAC-STARR-seq lymphoblastoid silent region 20320 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,031,198...128,031,247 JBrowse link
G LOC130002683 ATAC-STARR-seq lymphoblastoid silent region 20321 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,031,288...128,031,387 JBrowse link
G LOC130002684 ATAC-STARR-seq lymphoblastoid active region 29068 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,035,137...128,035,236 JBrowse link
G LOC130002685 ATAC-STARR-seq lymphoblastoid active region 29069 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,067,179...128,067,508 JBrowse link
G LOC130002686 ATAC-STARR-seq lymphoblastoid silent region 20323 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,067,959...128,068,528 JBrowse link
G LOC130002687 ATAC-STARR-seq lymphoblastoid active region 29070 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,069,259...128,069,338 JBrowse link
G LOC130002688 ATAC-STARR-seq lymphoblastoid active region 29071 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,115,912...128,115,961 JBrowse link
G LOC130002689 ATAC-STARR-seq lymphoblastoid active region 29072 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,127,250...128,127,329 JBrowse link
G LOC130002690 ATAC-STARR-seq lymphoblastoid silent region 20324 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,127,470...128,127,759 JBrowse link
G LOC130002691 ATAC-STARR-seq lymphoblastoid active region 29073 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,127,970...128,128,089 JBrowse link
G LOC130002692 ATAC-STARR-seq lymphoblastoid silent region 20325 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,128,400...128,128,599 JBrowse link
G LOC130002693 ATAC-STARR-seq lymphoblastoid silent region 20326 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,128,630...128,128,739 JBrowse link
G LOC130002694 ATAC-STARR-seq lymphoblastoid silent region 20327 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,150,803...128,150,852 JBrowse link
G LOC130002695 ATAC-STARR-seq lymphoblastoid active region 29074 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,203,062...128,203,161 JBrowse link
G LOC130002696 ATAC-STARR-seq lymphoblastoid silent region 20331 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,203,222...128,203,441 JBrowse link
G LOC130002697 ATAC-STARR-seq lymphoblastoid active region 29075 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,249,987...128,250,126 JBrowse link
G LOC130002698 ATAC-STARR-seq lymphoblastoid silent region 20332 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,250,297...128,250,796 JBrowse link
G LOC130002699 ATAC-STARR-seq lymphoblastoid silent region 20333 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,250,807...128,250,896 JBrowse link
G LOC130002700 ATAC-STARR-seq lymphoblastoid active region 29076 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,275,471...128,275,520 JBrowse link
G LOC130002701 ATAC-STARR-seq lymphoblastoid silent region 20334 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,275,671...128,275,780 JBrowse link
G LOC130002702 ATAC-STARR-seq lymphoblastoid active region 29077 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,276,381...128,276,510 JBrowse link
G LOC130002703 ATAC-STARR-seq lymphoblastoid active region 29078 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,322,147...128,322,686 JBrowse link
G LOC130002704 ATAC-STARR-seq lymphoblastoid silent region 20335 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,323,067...128,323,126 JBrowse link
G LOC130002705 ATAC-STARR-seq lymphoblastoid silent region 20337 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,340,654...128,341,053 JBrowse link
G LOC130002706 ATAC-STARR-seq lymphoblastoid active region 29079 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,341,690...128,341,869 JBrowse link
G LOC130002707 ATAC-STARR-seq lymphoblastoid active region 29080 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,371,473...128,371,572 JBrowse link
G LOC130002708 ATAC-STARR-seq lymphoblastoid silent region 20339 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,420,243...128,421,142 JBrowse link
G LOC130002709 ATAC-STARR-seq lymphoblastoid active region 29081 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,421,403...128,421,592 JBrowse link
G LOC130002710 ATAC-STARR-seq lymphoblastoid silent region 20344 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,504,530...128,504,739 JBrowse link
G LOC130002711 ATAC-STARR-seq lymphoblastoid active region 29084 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,504,960...128,505,119 JBrowse link
G LOC130002712 ATAC-STARR-seq lymphoblastoid silent region 20345 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,552,231...128,553,000 JBrowse link
G LOC130002713 ATAC-STARR-seq lymphoblastoid active region 29085 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,558,877...128,558,936 JBrowse link
G LOC130057985 ATAC-STARR-seq lymphoblastoid active region 10128 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar NCBI chr15:92,900,343...92,900,412 JBrowse link
G LOC130066357 ATAC-STARR-seq lymphoblastoid silent region 13157 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:27779742 More... NCBI chr20:63,521,018...63,521,217 JBrowse link
G LOC132090595 Neanderthal introgressed variant-containing enhancer experimental_60987 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:27779742 More... NCBI chr20:63,494,861...63,495,030 JBrowse link
G LOC132090596 Neanderthal introgressed variant-containing enhancer experimental_60996 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:27779742 More... NCBI chr20:63,497,297...63,497,466 JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912 		JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,451,486...127,503,501
Ensembl chr 9:127,451,489...127,503,499 		JBrowse link
G LSMEM2 leucine rich single-pass membrane protein 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,277,907...50,288,114
Ensembl chr 3:50,279,087...50,288,114 		JBrowse link
G LSP1 lymphocyte specific protein 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,853,084...1,892,263
Ensembl chr11:1,850,904...1,892,267 		JBrowse link
G MAPKAPK3 MAPK activated protein kinase 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,611,520...50,649,291
Ensembl chr 3:50,611,520...50,649,291 		JBrowse link
G MAST2 microtubule associated serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:45,803,612...46,036,122
Ensembl chr 1:45,786,987...46,036,122 		JBrowse link
G MAST3 microtubule associated serine/threonine kinase 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 PMID:34185323 NCBI chr19:18,097,778...18,151,687
Ensembl chr19:18,097,778...18,151,692 		JBrowse link
G MIR1-1 microRNA 1-1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,554,306...62,554,376
Ensembl chr20:62,554,306...62,554,376 		JBrowse link
G MIR1-1HG MIR1-1 host gene IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,550,453...62,570,764
Ensembl chr20:62,550,447...62,570,767 		JBrowse link
G MIR133A2 microRNA 133a-2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,564,912...62,565,013
Ensembl chr20:62,564,912...62,565,013 		JBrowse link
G MIR138-2 microRNA 138-2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,858,518...56,858,601
Ensembl chr16:56,858,518...56,858,601 		JBrowse link
G MIR199B microRNA 199b IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:128,244,721...128,244,830
Ensembl chr 9:128,244,721...128,244,830 		JBrowse link
G MIR210 microRNA 210 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:568,089...568,198
Ensembl chr11:568,089...568,198 		JBrowse link
G MIR210HG MIR210 host gene IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:565,657...568,457
Ensembl chr11:565,657...568,457 		JBrowse link
G MIR219A2 microRNA 219a-2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,392,618...128,392,714
Ensembl chr 9:128,392,618...128,392,714 		JBrowse link
G MIR219A2HG MIR219A2 host gene IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,392,011...128,393,501
Ensembl chr 9:128,392,007...128,393,510 		JBrowse link
G MIR219B microRNA 219b IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,392,621...128,392,708
Ensembl chr 9:128,392,621...128,392,708 		JBrowse link
G MIR2861 microRNA 2861 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:127,785,918...127,786,007
Ensembl chr 9:127,785,918...127,786,007 		JBrowse link
G MIR3154 microRNA 3154 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,244,947...128,245,030
Ensembl chr 9:128,244,947...128,245,030 		JBrowse link
G MIR3911 microRNA 3911 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:21770924 PMID:22368301 PMID:23708187 PMID:24315539 PMID:25658047 More... NCBI chr 9:127,690,687...127,690,795
Ensembl chr 9:127,690,687...127,690,795 		JBrowse link
G MIR3960 microRNA 3960 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,785,833...127,785,923
Ensembl chr 9:127,785,833...127,785,923 		JBrowse link
G MIR4672 microRNA 4672 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,869,415...127,869,495
Ensembl chr 9:127,869,415...127,869,495 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MMP15 matrix metallopeptidase 15 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,025,754...58,046,901
Ensembl chr16:58,025,754...58,046,901 		JBrowse link
G MOB2 MOB kinase activator 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,469,448...1,486,779
Ensembl chr11:1,469,457...1,501,247 		JBrowse link
G MON1A MON1 homolog A, secretory trafficking associated IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:49,908,873...49,929,811
Ensembl chr 3:49,907,160...49,930,173 		JBrowse link
G MRGBP MRG domain binding protein IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,796,473...62,801,729
Ensembl chr20:62,796,473...62,801,729 		JBrowse link
G MRGPRE MAS related GPR family member E IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:3,225,030...3,232,417
Ensembl chr11:3,225,030...3,232,417 		JBrowse link
G MRGPRG MAS related GPR family member G IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:3,217,944...3,218,813
Ensembl chr11:3,217,944...3,218,813 		JBrowse link
G MRPL23 mitochondrial ribosomal protein L23 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,947,332...2,014,944
Ensembl chr11:1,947,278...1,984,522 		JBrowse link
G MRPS30 mitochondrial ribosomal protein S30 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 5:44,808,947...44,815,514
Ensembl chr 5:44,808,947...44,820,428 		JBrowse link
G MST1 macrophage stimulating 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501 		JBrowse link
G MST1R macrophage stimulating 1 receptor IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:49,887,002...49,903,873
Ensembl chr 3:49,887,002...49,903,873 		JBrowse link
G MT1A metallothionein 1A IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,638,666...56,640,087
Ensembl chr16:56,638,666...56,640,087 		JBrowse link
G MT1B metallothionein 1B IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,651,886...56,653,204
Ensembl chr16:56,651,886...56,653,204 		JBrowse link
G MT1E metallothionein 1E IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,625,781...56,627,112
Ensembl chr16:56,625,475...56,627,112 		JBrowse link
G MT1F metallothionein 1F IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,657,959...56,659,303
Ensembl chr16:56,657,731...56,660,698 		JBrowse link
G MT1G metallothionein 1G IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,666,730...56,668,065
Ensembl chr16:56,666,730...56,668,065 		JBrowse link
G MT1H metallothionein 1H IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,669,814...56,671,129
Ensembl chr16:56,669,814...56,671,129 		JBrowse link
G MT1M metallothionein 1M IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,632,659...56,633,981
Ensembl chr16:56,632,659...56,633,981 		JBrowse link
G MT1X metallothionein 1X IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196 		JBrowse link
G MT2A metallothionein 2A IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497 		JBrowse link
G MT3 metallothionein 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088 		JBrowse link
G MT4 metallothionein 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,565,073...56,568,957
Ensembl chr16:56,565,073...56,568,957 		JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,074,874...1,110,508
Ensembl chr11:1,074,875...1,110,511 		JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138 		JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,223,066...1,262,172
Ensembl chr11:1,223,066...1,262,172 		JBrowse link
G MUC6 mucin 6, oligomeric mucus/gel-forming IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,012,823...1,036,718
Ensembl chr11:1,012,823...1,036,718 		JBrowse link
G MUTYH mutY DNA glycosylase IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893 		JBrowse link
G NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,296,402...50,299,405
Ensembl chr 3:50,296,402...50,299,416 		JBrowse link
G NAIF1 nuclear apoptosis inducing factor 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:128,061,233...128,067,320
Ensembl chr 9:128,061,233...128,068,206 		JBrowse link
G NAP1L4 nucleosome assembly protein 1 like 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,944,437...2,992,329
Ensembl chr11:2,944,431...2,992,377 		JBrowse link
G NASP nuclear autoantigenic sperm protein IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:45,584,041...45,618,893
Ensembl chr 1:45,583,846...45,618,904 		JBrowse link
G NDRG4 NDRG family member 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,463,715...58,515,387
Ensembl chr16:58,462,846...58,513,628 		JBrowse link
G NIBAN2 niban apoptosis regulator 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,505,343...127,579,031
Ensembl chr 9:127,505,339...127,578,989 		JBrowse link
G NKAIN4 sodium/potassium transporting ATPase interacting 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,240,784...63,254,921
Ensembl chr20:63,240,784...63,272,694 		JBrowse link
G NLRC5 NLR family CARD domain containing 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,989,557...57,083,520
Ensembl chr16:56,989,485...57,083,531 		JBrowse link
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 More... NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459 		JBrowse link
G NPRL2 NPR2 like, GATOR1 complex subunit IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 PMID:30410802 NCBI chr 3:50,347,330...50,350,775
Ensembl chr 3:50,347,330...50,350,826 		JBrowse link
G NTSR1 neurotensin receptor 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,708,836...62,762,771
Ensembl chr20:62,708,836...62,762,771 		JBrowse link
G NUDT21 nudix hydrolase 21 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,429,133...56,451,332
Ensembl chr16:56,429,133...56,452,199 		JBrowse link
G NUP93 nucleoporin 93 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,730,129...56,850,286
Ensembl chr16:56,730,118...56,850,286 		JBrowse link
G NUP98 nucleoporin 98 and 96 precursor IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:3,675,010...3,797,554
Ensembl chr11:3,671,083...3,797,792 		JBrowse link
G ODF2 outer dense fiber of sperm tails 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,455,185...128,501,292
Ensembl chr 9:128,455,186...128,501,292 		JBrowse link
G ODF2-AS1 ODF2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,468,925...128,473,012
Ensembl chr 9:128,468,957...128,473,012 		JBrowse link
G OGFOD1 2-oxoglutarate and iron dependent oxygenase domain containing 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,451,524...56,479,104
Ensembl chr16:56,451,521...56,479,104 		JBrowse link
G OGFR opioid growth factor receptor IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,804,835...62,814,000
Ensembl chr20:62,804,835...62,814,000 		JBrowse link
G OSBPL2 oxysterol binding protein like 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,238,521...62,296,183
Ensembl chr20:62,231,922...62,296,213 		JBrowse link
G OSBPL5 oxysterol binding protein like 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:3,087,107...3,165,310
Ensembl chr11:3,087,107...3,166,739 		JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371 		JBrowse link
G PHLDA2 pleckstrin homology like domain family A member 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,928,273...2,929,420
Ensembl chr11:2,928,273...2,929,420 		JBrowse link
G PHRF1 PHD and ring finger domains 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:576,470...612,222
Ensembl chr11:576,470...612,222 		JBrowse link
G PIDD1 p53-induced death domain protein 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:799,184...809,501
Ensembl chr11:799,179...809,753 		JBrowse link
G PIGP phosphatidylinositol glycan anchor biosynthesis class P IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 PMID:28334793 PMID:28492532 PMID:31139695 PMID:32042915 NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170 		JBrowse link
G PIK3R3 phosphoinositide-3-kinase regulatory subunit 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:46,040,140...46,174,901
Ensembl chr 1:46,040,140...46,133,036 		JBrowse link
G PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:127,920,881...127,930,777
Ensembl chr 9:127,920,881...127,930,785 		JBrowse link
G PKP3 plakophilin 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:392,596...404,908
Ensembl chr11:392,614...404,908 		JBrowse link
G PLK3 polo like kinase 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:44,800,377...44,805,990
Ensembl chr 1:44,800,377...44,805,990 		JBrowse link
G PLLP plasmolipin IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,256,097...57,284,672
Ensembl chr16:57,248,547...57,284,672 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G POLR2C RNA polymerase II subunit C IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,462,679...57,472,009
Ensembl chr16:57,462,660...57,472,009 		JBrowse link
G POLR2L RNA polymerase II, I and III subunit L IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:839,721...842,529
Ensembl chr11:837,356...842,529 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G PPDPF pancreatic progenitor cell differentiation and proliferation factor IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr20:63,520,741...63,522,206
Ensembl chr20:63,520,765...63,522,206 		JBrowse link
G PRDX1 peroxiredoxin 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732 		JBrowse link
G PRPF6 pre-mRNA processing factor 6 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,981,132...64,033,100
Ensembl chr20:63,981,132...64,033,100 		JBrowse link
G PRSS54 serine protease 54 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,279,997...58,295,025
Ensembl chr16:58,279,997...58,295,047 		JBrowse link
G PSME3IP1 proteasome activator subunit 3 interacting protein 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,152,466...57,186,116
Ensembl chr16:57,152,466...57,186,116 		JBrowse link
G PTCH2 patched 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253 		JBrowse link
G PTDSS2 phosphatidylserine synthase 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:448,268...491,399
Ensembl chr11:448,268...491,399 		JBrowse link
G PTGES2 prostaglandin E synthase 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:128,120,693...128,128,440
Ensembl chr 9:128,120,693...128,128,462 		JBrowse link
G PTGES2-AS1 PTGES2 antisense RNA 1 (head to head) IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,128,529...128,130,634
Ensembl chr 9:128,128,529...128,130,628 		JBrowse link
G PTK6 protein tyrosine kinase 6 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr20:63,528,001...63,537,376
Ensembl chr20:63,528,001...63,537,376 		JBrowse link
G PTRH1 peptidyl-tRNA hydrolase 1 homolog IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:127,694,150...127,715,676
Ensembl chr 9:127,690,348...127,724,873 		JBrowse link
G RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:126,914,782...127,223,166
Ensembl chr 9:126,914,774...127,223,166 		JBrowse link
G RASSF1 Ras association domain family member 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,329,788...50,340,836
Ensembl chr 3:50,329,782...50,340,980 		JBrowse link
G RASSF7 Ras association domain family member 7 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:560,970...564,025
Ensembl chr11:560,404...564,025 		JBrowse link
G RBBP8NL RBBP8 N-terminal like IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,410,237...62,427,539
Ensembl chr20:62,410,237...62,427,539 		JBrowse link
G RBM5 RNA binding motif protein 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,088,919...50,119,021
Ensembl chr 3:50,088,919...50,119,021 		JBrowse link
G RBM6 RNA binding motif protein 6 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:49,940,150...50,077,249
Ensembl chr 3:49,940,007...50,100,045 		JBrowse link
G RHOG ras homolog family member G IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:3,826,978...3,840,959
Ensembl chr11:3,826,978...3,840,959 		JBrowse link
G RNF123 ring finger protein 123 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:49,689,557...49,721,529
Ensembl chr 3:49,689,538...49,721,529 		JBrowse link
G RNF220 ring finger protein 220 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:44,404,783...44,651,724
Ensembl chr 1:44,405,194...44,651,723 		JBrowse link
G RNH1 ribonuclease/angiogenin inhibitor 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:494,515...507,242
Ensembl chr11:494,512...507,300 		JBrowse link
G RPL12 ribosomal protein L12 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,447,674...127,451,406
Ensembl chr 9:127,447,674...127,451,406 		JBrowse link
G RPLP2 ribosomal protein lateral stalk subunit P2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:809,967...812,876
Ensembl chr11:809,965...812,880 		JBrowse link
G RPS21 ribosomal protein S21 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,387,103...62,388,520
Ensembl chr20:62,387,103...62,388,520 		JBrowse link
G RPS8 ribosomal protein S8 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:44,775,540...44,778,779
Ensembl chr 1:44,775,251...44,778,779 		JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G SAMD10 sterile alpha motif domain containing 10 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,974,116...63,980,144
Ensembl chr20:63,974,116...63,980,008 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar Annotator: match by term: developmental encephalopathy with epilepsy		 ClinVar PMID:1893099 PMID:9126059 PMID:9536098 PMID:9573403 PMID:10486327 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214 		JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9536098 PMID:9573403 PMID:10486327 PMID:10742094 PMID:11118488 More... NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771 		JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:15048894 PMID:15133511 PMID:16865694 PMID:17021166 PMID:17347258 More... NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:10051516 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 More... NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISS
IAGP		 ClinVar Annotator: match by term: Early infantile epileptic encephalopathy MouseDO
ClinVar		 PMID:9536098 PMID:12374766 PMID:15525788 PMID:15800189 PMID:16199547 More... NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G SCT secretin IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:626,309...627,181
Ensembl chr11:626,309...627,181 		JBrowse link
G SEMA3B semaphorin 3B IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,267,652...50,277,546
Ensembl chr 3:50,267,558...50,277,546 		JBrowse link
G SEMA3F semaphorin 3F IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,155,058...50,189,075
Ensembl chr 3:50,155,045...50,189,075 		JBrowse link
G SEMA3F-AS1 SEMA3F antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,116,022...50,156,085
Ensembl chr 3:50,116,022...50,156,085 		JBrowse link
G SETD6 SET domain containing 6, protein lysine methyltransferase IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,515,479...58,523,842
Ensembl chr16:58,515,479...58,523,842 		JBrowse link
G SH2D3C SH2 domain containing 3C IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:127,738,317...127,778,666
Ensembl chr 9:127,738,317...127,778,710 		JBrowse link
G SIGIRR single Ig and TIR domain containing IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:405,716...417,397
Ensembl chr11:405,716...417,455 		JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850 		JBrowse link
G SLC17A9 solute carrier family 17 member 9 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,952,709...62,969,585
Ensembl chr20:62,952,707...62,969,585 		JBrowse link
G SLC22A18 solute carrier family 22 member 18 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,899,691...2,925,246
Ensembl chr11:2,899,721...2,925,246 		JBrowse link
G SLC22A18AS SLC22A18 antisense RNA IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,887,344...2,903,575
Ensembl chr11:2,887,344...2,903,813 		JBrowse link
G SLC25A22 solute carrier family 25 member 22 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9536098 PMID:15592994 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281 		JBrowse link
G SLC25A25 solute carrier family 25 member 25 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:128,068,232...128,109,245
Ensembl chr 9:128,068,201...128,109,245 		JBrowse link
G SLC25A25-AS1 SLC25A25 antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,111,171...128,118,734
Ensembl chr 9:128,108,581...128,118,693 		JBrowse link
G SLC27A4 solute carrier family 27 member 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,340,527...128,361,470
Ensembl chr 9:128,340,527...128,361,470 		JBrowse link
G SLC2A4RG SLC2A4 regulator IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,739,776...63,744,050
Ensembl chr20:63,739,776...63,744,050 		JBrowse link
G SLC2A8 solute carrier family 2 member 8 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,397,169...127,407,898
Ensembl chr 9:127,397,138...127,408,424 		JBrowse link
G SLC38A3 solute carrier family 38 member 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486 		JBrowse link
G SLC38A7 solute carrier family 38 member 7 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:58,665,109...58,684,770
Ensembl chr16:58,665,109...58,684,770 		JBrowse link
G SLC6A9 solute carrier family 6 member 9 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467 		JBrowse link
G SLCO4A1 solute carrier organic anion transporter family member 4A1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,642,503...62,690,740
Ensembl chr20:62,642,503...62,685,785 		JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25381298 PMID:25741868 PMID:28492532 PMID:29100083 PMID:29355968 More... NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258 		JBrowse link
G SOX18 SRY-box transcription factor 18 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:64,047,582...64,049,639
Ensembl chr20:64,047,582...64,049,639 		JBrowse link
G SPMIP8 sperm microtubule inner protein 8 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,976,544...57,988,116
Ensembl chr16:57,976,435...57,988,116 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20228407 More... NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		JBrowse link
G SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr20:63,538,489...63,547,749
Ensembl chr20:63,538,489...63,547,749 		JBrowse link
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19763152 More... NCBI chr 1:43,707,536...43,931,159
Ensembl chr 1:43,705,824...43,931,165 		JBrowse link
G ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:127,907,886...127,917,041
Ensembl chr 9:127,907,886...127,917,041 		JBrowse link
G ST6GALNAC4-ST6GALNAC6-AK1 ST6GALNAC4-ST6GALNAC6-AK1 readthrough IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:127,866,486...127,917,041 JBrowse link
G ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:127,885,321...127,906,616
Ensembl chr 9:127,885,321...127,905,408 		JBrowse link
G STIM1 stromal interaction molecule 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G STMN3 stathmin 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr20:63,639,712...63,653,424
Ensembl chr20:63,639,705...63,657,682 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18469812 More... NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G SWI5 SWI5 homologous recombination repair protein IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,275,356...128,288,989
Ensembl chr 9:128,275,379...128,316,123 		JBrowse link
G SYT8 synaptotagmin 8 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,831,784...1,837,521
Ensembl chr11:1,828,307...1,837,521 		JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247 		JBrowse link
G TALDO1 transaldolase 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012 		JBrowse link
G TCFL5 transcription factor like 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,841,005...62,861,822
Ensembl chr20:62,841,005...62,861,822 		JBrowse link
G TESK2 testis associated actin remodelling kinase 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:45,343,883...45,491,163
Ensembl chr 1:45,343,883...45,491,163 		JBrowse link
G TH tyrosine hydroxylase IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
G TMEM115 transmembrane protein 115 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 PMID:30410802 NCBI chr 3:50,354,750...50,359,521
Ensembl chr 3:50,354,750...50,359,521 		JBrowse link
G TMEM53 transmembrane protein 53 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:44,653,247...44,674,481
Ensembl chr 1:44,635,238...44,674,481 		JBrowse link
G TMEM69 transmembrane protein 69 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:45,688,181...45,694,436
Ensembl chr 1:45,688,181...45,694,436 		JBrowse link
G TMEM80 transmembrane protein 80 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:695,639...705,028
Ensembl chr11:695,591...705,028 		JBrowse link
G TNFRSF6B TNF receptor superfamily member 6b IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,696,652...63,698,684
Ensembl chr20:63,696,652...63,698,684 		JBrowse link
G TNK2 tyrosine kinase non receptor 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 3:195,863,364...195,908,551
Ensembl chr 3:195,863,364...195,911,945 		JBrowse link
G TNNI2 troponin I2, fast skeletal type IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680 		JBrowse link
G TNNT3 troponin T3, fast skeletal type IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706 		JBrowse link
G TOE1 target of EGR1, exonuclease IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973 		JBrowse link
G TOLLIP toll interacting protein IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:1,274,371...1,309,632
Ensembl chr11:1,274,371...1,309,654 		JBrowse link
G TOR2A torsin family 2 member A IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:127,731,524...127,735,294
Ensembl chr 9:127,731,524...127,735,313 		JBrowse link
G TPD52L2 TPD52 like 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,865,270...63,891,538
Ensembl chr20:63,865,228...63,891,545 		JBrowse link
G TRAIP TRAF interacting protein IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574 		JBrowse link
G TRPM5 transient receptor potential cation channel subfamily M member 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,403,991...2,444,514
Ensembl chr11:2,404,515...2,444,514 		JBrowse link
G TRR-TCT3-1 tRNA-Arg (anticodon TCT) 3-1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,340,076...128,340,166 JBrowse link
G TRUB2 TruB pseudouridine synthase family member 2 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,305,159...128,322,447
Ensembl chr 9:128,305,159...128,322,447 		JBrowse link
G TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962 		JBrowse link
G TSPAN32 tetraspanin 32 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,302,013...2,318,204
Ensembl chr11:2,301,997...2,318,204 		JBrowse link
G TSPAN4 tetraspanin 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:842,852...867,111
Ensembl chr11:842,812...867,116 		JBrowse link
G TSSC4 tumor suppressing subtransferable candidate 4 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:2,400,750...2,403,876
Ensembl chr11:2,400,488...2,403,878 		JBrowse link
G TTC16 tetratricopeptide repeat domain 16 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 9:127,716,079...127,731,590
Ensembl chr 9:127,716,079...127,731,590 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:14738421 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 More... NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18479393 More... NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891 		JBrowse link
G TUSC2 tumor suppressor 2, mitochondrial calcium regulator IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:50,324,909...50,328,223
Ensembl chr 3:50,320,027...50,328,251 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 More... NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794 		JBrowse link
G UBA7 ubiquitin like modifier activating enzyme 7 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr 3:49,805,209...49,813,953
Ensembl chr 3:49,805,209...49,813,953 		JBrowse link
G UCKL1 uridine-cytidine kinase 1 like 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,939,829...63,956,416
Ensembl chr20:63,939,829...63,956,416 		JBrowse link
G URM1 ubiquitin related modifier 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 9:128,371,319...128,392,016
Ensembl chr 9:128,371,361...128,392,016 		JBrowse link
G UROD uroporphyrinogen decarboxylase IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:45,012,254...45,015,575
Ensembl chr 1:45,010,950...45,015,575 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G YTHDF1 YTH N6-methyladenosine RNA binding protein F1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,195,429...63,216,131
Ensembl chr20:63,195,429...63,216,139 		JBrowse link
G ZBTB34 zinc finger and BTB domain containing 34 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:126,860,639...126,885,878
Ensembl chr 9:126,860,639...126,885,878 		JBrowse link
G ZBTB43 zinc finger and BTB domain containing 43 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:126,804,072...126,838,210
Ensembl chr 9:126,805,006...126,838,210 		JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,743,670...63,833,895
Ensembl chr20:63,743,668...63,832,038 		JBrowse link
G ZGPAT zinc finger CCCH-type and G-patch domain containing IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:25921748 More... NCBI chr20:63,707,442...63,736,142
Ensembl chr20:63,707,465...63,736,142 		JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 PMID:30410802 NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732 		JBrowse link
G ZNF195 zinc finger protein 195 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr11:3,357,927...3,379,146
Ensembl chr11:3,339,261...3,379,222 		JBrowse link
G ZNF319 zinc finger protein 319 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr16:57,994,676...58,000,672
Ensembl chr16:57,994,676...58,000,672 		JBrowse link
G ZNF512B zinc finger protein 512B IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,956,704...63,969,930
Ensembl chr20:63,956,704...63,969,930 		JBrowse link
G ZNF79 zinc finger protein 79 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,424,382...127,445,372
Ensembl chr 9:127,424,374...127,445,372 		JBrowse link
G ZSWIM5 zinc finger SWIM-type containing 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:45,016,399...45,206,605
Ensembl chr 1:45,016,399...45,306,209 		JBrowse link
congenital disorder of glycosylation type IIm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP4 A-kinase anchoring protein 4 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:50,190,777...50,201,007
Ensembl chr  X:50,190,777...50,201,007 		JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:47,561,205...47,571,908
Ensembl chr  X:47,561,205...47,571,908 		JBrowse link
G BMP15 bone morphogenetic protein 15 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:50,910,735...50,916,641
Ensembl chr  X:50,910,735...50,916,641 		JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,205,063...49,233,340
Ensembl chr  X:49,205,063...49,233,371 		JBrowse link
G CCDC120 coiled-coil domain containing 120 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,053,572...49,069,858
Ensembl chr  X:49,053,572...49,069,857 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CCNB3 cyclin B3 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:50,202,713...50,351,914
Ensembl chr  X:50,202,713...50,351,914 		JBrowse link
G CDK16 cyclin dependent kinase 16 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:47,218,303...47,229,997
Ensembl chr  X:47,217,860...47,229,997 		JBrowse link
G CFP complement factor properdin IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:47,623,282...47,630,305
Ensembl chr  X:47,623,172...47,630,305 		JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,922,596...50,099,230
Ensembl chr  X:49,922,596...50,099,235 		JBrowse link
G DGKK diacylglycerol kinase kappa IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:50,365,409...50,470,825
Ensembl chr  X:50,365,409...50,470,825 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G ELK1 ETS transcription factor ELK1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:47,635,520...47,650,604
Ensembl chr  X:47,635,521...47,650,604 		JBrowse link
G ERAS ES cell expressed Ras IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,826,513...48,829,869
Ensembl chr  X:48,826,513...48,830,138 		JBrowse link
G FOXP3 forkhead box P3 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800 		JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:48,476,021...48,486,364
Ensembl chr  X:48,476,021...48,486,364 		JBrowse link
G GAGE1 G antigen 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,599,013...49,608,538
Ensembl chr  X:49,599,020...49,608,538 		JBrowse link
G GAGE12B G antigen 12B IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,341,164...49,529,982
Ensembl chr  X:49,529,869...49,529,985
Ensembl chr  X:49,529,869...49,529,985 		JBrowse link
G GAGE12C G antigen 12C IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,532,177...49,539,538
Ensembl chr  X:49,532,177...49,539,538 		JBrowse link
G GAGE12D G antigen 12D IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,541,733...49,549,094
Ensembl chr  X:49,541,733...49,549,094 		JBrowse link
G GAGE12E G antigen 12E IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,551,289...49,558,645
Ensembl chr  X:49,551,289...49,558,645 		JBrowse link
G GAGE12F G antigen 12F IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,560,842...49,568,205
Ensembl chr  X:49,551,278...49,568,218 		JBrowse link
G GAGE12G G antigen 12G IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,570,397...49,577,757
Ensembl chr  X:49,570,400...49,577,754 		JBrowse link
G GAGE12H G antigen 12H IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,579,949...49,587,301
Ensembl chr  X:49,579,949...49,587,301 		JBrowse link
G GAGE12I G antigen 12I IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,341,210...49,529,985
Ensembl chr  X:49,551,278...49,568,218
Ensembl chr  X:49,551,278...49,568,218 		JBrowse link
G GAGE12J G antigen 12J IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,322,037...49,329,384
Ensembl chr  X:49,322,037...49,329,384 		JBrowse link
G GAGE13 G antigen 13 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,331,582...49,338,949
Ensembl chr  X:49,331,582...49,338,949 		JBrowse link
G GAGE2A G antigen 2A IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,589,496...49,596,824
Ensembl chr  X:49,589,496...49,596,824 		JBrowse link
G GAGE2B G antigen 2B IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,331,615...49,338,933 JBrowse link
G GAGE2C G antigen 2C IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,331,615...49,338,962 JBrowse link
G GAGE2D G antigen 2D IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,560,844...49,568,208 JBrowse link
G GAGE2E G antigen 2E IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,560,886...49,568,208
Ensembl chr  X:49,341,192...49,345,922 		JBrowse link
G GAGE8 G antigen 8 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532
G GATA1 GATA binding protein 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GLOD5 glyoxalase domain containing 5 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,761,747...48,773,648
Ensembl chr  X:48,761,747...48,773,648 		JBrowse link
G GPKOW G-patch domain and KOW motifs IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,113,407...49,123,735
Ensembl chr  X:49,113,407...49,123,735 		JBrowse link
G GRIPAP1 GRIP1 associated protein 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,973,723...49,002,264
Ensembl chr  X:48,973,720...49,002,265 		JBrowse link
G HDAC6 histone deacetylase 6 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982 		JBrowse link
G INE1 inactivation escape 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:47,204,848...47,205,861
Ensembl chr  X:47,204,921...47,205,865 		JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,961,380...48,971,844
Ensembl chr  X:48,961,378...48,971,844 		JBrowse link
G LINC01560 long intergenic non-protein coding RNA 1560 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:47,482,716...47,485,227
Ensembl chr  X:47,483,571...47,484,823 		JBrowse link
G LOC130068257 ATAC-STARR-seq lymphoblastoid silent region 20825 IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:25741868 NCBI chr  X:48,910,840...48,910,889 JBrowse link
G LOC130068258 ATAC-STARR-seq lymphoblastoid active region 29618 IAGP ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:25741868 NCBI chr  X:48,911,250...48,911,299 JBrowse link
G MAGIX MAGI family member, X-linked IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,162,665...49,168,774
Ensembl chr  X:49,162,564...49,168,774 		JBrowse link
G MIR502 microRNA 502 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:50,014,598...50,014,683
Ensembl chr  X:50,014,598...50,014,683 		JBrowse link
G MIR532 microRNA 532 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:50,003,148...50,003,238
Ensembl chr  X:50,003,148...50,003,238 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G PAGE1 PAGE family member 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,687,447...49,695,984
Ensembl chr  X:49,687,447...49,695,984 		JBrowse link
G PAGE4 PAGE family member 4 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,829,260...49,834,264
Ensembl chr  X:49,829,260...49,834,264 		JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,831,096...48,835,610
Ensembl chr  X:48,831,096...48,835,610 		JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,913,182...48,919,024
Ensembl chr  X:48,913,182...48,919,024 		JBrowse link
G PLP2 proteolipid protein 2 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,171,898...49,175,235
Ensembl chr  X:49,171,898...49,175,235 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,269,793...49,301,469
Ensembl chr  X:49,269,793...49,301,461 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
G PRAF2 PRA1 domain family member 2 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,071,161...49,074,002
Ensembl chr  X:49,071,161...49,074,002 		JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,174,802...49,186,373
Ensembl chr  X:49,174,802...49,186,528 		JBrowse link
G RBM10 RNA binding motif protein 10 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:47,145,221...47,186,813
Ensembl chr  X:47,145,221...47,186,813 		JBrowse link
G RBM3 RNA binding motif protein 3 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,574,484...48,581,162
Ensembl chr  X:48,574,449...48,581,162 		JBrowse link
G SHROOM4 shroom family member 4 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:50,575,534...50,814,194
Ensembl chr  X:50,586,796...50,814,302 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP
EXP		 ClinVar Annotator: match by term: SLC35A2-CDG
ClinVar Annotator: match by term: CDG IIm | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:23561849 PMID:24115232 PMID:25262651 PMID:25741868 PMID:25877686 More... NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SLC38A5 solute carrier family 38 member 5 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:48,458,544...48,470,260
Ensembl chr  X:48,458,537...48,470,260 		JBrowse link
G SPACA5 sperm acrosome associated 5 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:48,004,336...48,009,733
Ensembl chr  X:48,004,336...48,009,733 		JBrowse link
G SPACA5B sperm acrosome associated 5B IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:48,130,626...48,132,620
Ensembl chr  X:48,130,626...48,132,620 		JBrowse link
G SSX1 SSX family member 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:48,255,392...48,267,444
Ensembl chr  X:48,255,392...48,267,444 		JBrowse link
G SSX4 SSX family member 4 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:48,383,539...48,393,347
Ensembl chr  X:48,383,516...48,393,347
Ensembl chr  X:48,383,516...48,393,347 		JBrowse link
G SSX4B SSX family member 4B IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:48,402,082...48,411,960
Ensembl chr  X:48,402,082...48,411,960
Ensembl chr  X:48,402,082...48,411,960 		JBrowse link
G SSX5 SSX family member 5 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:48,186,220...48,196,795
Ensembl chr  X:48,186,220...48,196,795 		JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,695,554...48,709,016
Ensembl chr  X:48,695,554...48,709,016 		JBrowse link
G SYN1 synapsin I IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:47,571,901...47,619,857
Ensembl chr  X:47,571,901...47,619,857 		JBrowse link
G SYP synaptophysin IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,187,815...49,200,193
Ensembl chr  X:49,187,815...49,200,218 		JBrowse link
G TBC1D25 TBC1 domain family member 25 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,539,714...48,562,609
Ensembl chr  X:48,539,714...48,562,609 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410 		JBrowse link
G TIMM17B translocase of inner mitochondrial membrane 17B IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,893,447...48,898,143
Ensembl chr  X:48,893,447...48,898,143 		JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:47,582,436...47,586,789
Ensembl chr  X:47,582,408...47,586,789 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G USP11 ubiquitin specific peptidase 11 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:47,233,009...47,248,328
Ensembl chr  X:47,232,866...47,248,328 		JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,879,484...49,882,558
Ensembl chr  X:49,879,484...49,882,558 		JBrowse link
G UXT ubiquitously expressed prefoldin like chaperone IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:47,651,796...47,659,180
Ensembl chr  X:47,651,796...47,659,180 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WDR13 WD repeat domain 13 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:48,597,492...48,608,869
Ensembl chr  X:48,590,042...48,608,869 		JBrowse link
G WDR45 WD repeat domain 45 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:49,074,442...49,101,178
Ensembl chr  X:49,074,433...49,101,170 		JBrowse link
G ZNF157 zinc finger protein 157 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:47,370,578...47,414,498
Ensembl chr  X:47,370,578...47,414,498 		JBrowse link
G ZNF182 zinc finger protein 182 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:47,974,851...48,003,989
Ensembl chr  X:47,974,851...48,003,989 		JBrowse link
G ZNF41 zinc finger protein 41 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:47,445,178...47,483,222
Ensembl chr  X:47,445,178...47,483,222 		JBrowse link
G ZNF630 zinc finger protein 630 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:48,057,516...48,071,640
Ensembl chr  X:47,983,356...48,071,658 		JBrowse link
G ZNF81 zinc finger protein 81 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:47,836,902...47,925,627
Ensembl chr  X:47,836,902...48,002,561 		JBrowse link
developmental and epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,275,881...2,340,728
Ensembl chr16:2,275,881...2,340,746 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:23953072 PMID:25741868 PMID:28492532 NCBI chr 5:126,541,841...126,595,219
Ensembl chr 5:126,531,200...126,595,362 		JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:111,681,170...111,760,649
Ensembl chr  X:111,665,811...111,760,649 		JBrowse link
G ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:35638461 NCBI chr  X:63,634,967...63,785,214
Ensembl chr  X:63,634,967...63,809,274 		JBrowse link
G ARX aristaless related homeobox ISO
IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
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: 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)		 ClinVar
CTD
OMIM
RGD		 PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 More... RGD:11565838, RGD:11565846 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G BRICD5 BRICHOS domain containing 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,209,253...2,210,863
Ensembl chr16:2,209,253...2,210,905 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025 		JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase IAGP ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:32820246 PMID:33497533 NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943 		JBrowse link
G CASKIN1 CASK interacting protein 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,177,180...2,196,605
Ensembl chr16:2,177,180...2,196,605 		JBrowse link
G CCNF cyclin F IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G CFAP96 cilia and flagella associated protein 96 IAGP ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 4:185,408,434...185,449,826
Ensembl chr 4:185,426,249...185,449,826 		JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr15:92,900,324...93,027,996
Ensembl chr15:92,886,203...93,027,996 		JBrowse link
G CSNK1E casein kinase 1 epsilon IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr22:38,290,691...38,318,084
Ensembl chr22:38,290,691...38,318,084 		JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,236,444...2,238,711
Ensembl chr16:2,235,816...2,238,711 		JBrowse link
G DNM1 dynamin 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:30097719 PMID:32909139 PMID:36413998 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G E4F1 E4F transcription factor 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,223,591...2,235,742
Ensembl chr16:2,223,580...2,235,742 		JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,239,402...2,251,587
Ensembl chr16:2,239,402...2,252,300 		JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr15:26,543,552...26,773,763
Ensembl chr15:26,543,552...26,939,539 		JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,191,390...56,357,444 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498 		JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560 		JBrowse link
G ITPA inosine triphosphatase IAGP ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:26224535 PMID:28492532 NCBI chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870 		JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 More... NCBI chr 1:110,593,580...110,631,440
Ensembl chr 1:110,519,837...110,631,474 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP 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 chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G LOC109610631 aristaless related homeobox polyalanine expansion region IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1
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: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome		 ClinVar PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:10353782 More... NCBI chr  X:25,013,530...25,013,697 JBrowse link
G LOC110120570 VISTA enhancer hs12 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:27569545 PMID:28492532 NCBI chr16:78,476,711...78,478,047 JBrowse link
G LOC110120595 VISTA enhancer hs122 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr  X:24,998,950...25,000,639 JBrowse link
G LOC110120597 VISTA enhancer hs145 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr  X:25,000,754...25,002,415 JBrowse link
G LOC112486209 Sharpr-MPRA regulatory region 4302 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:24456803 PMID:25411445 PMID:25640679 PMID:27569545 PMID:28492532 More... NCBI chr16:78,428,252...78,428,546 JBrowse link
G LOC121587562 Sharpr-MPRA regulatory region 1447 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:27569545 PMID:28492532 NCBI chr16:78,200,092...78,200,386 JBrowse link
G LOC125177355 Sharpr-MPRA regulatory region 10407 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:27569545 PMID:28492532 NCBI chr16:78,240,572...78,240,866 JBrowse link
G LOC126863148 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:38694325-38695524 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr22:38,298,319...38,300,075 JBrowse link
G LOC132090428 Neanderthal introgressed variant-containing enhancer experimental_45974 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:27569545 PMID:28492532 NCBI chr16:78,134,868...78,135,037 JBrowse link
G LOC132090429 Neanderthal introgressed variant-containing enhancer experimental_45980 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:27569545 PMID:28492532 NCBI chr16:78,138,511...78,138,680 JBrowse link
G LOC132090430 Neanderthal introgressed variant-containing enhancer experimental_46047 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:27569545 PMID:28492532 NCBI chr16:78,165,689...78,165,858 JBrowse link
G LOC132090431 Neanderthal introgressed variant-containing enhancer experimental_46108 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:27569545 PMID:28492532 NCBI chr16:78,287,868...78,288,037 JBrowse link
G LOC132090432 Neanderthal introgressed variant-containing enhancer experimental_46172 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25411445 PMID:27569545 PMID:28492532 NCBI chr16:78,322,474...78,322,643 JBrowse link
G LOC132090433 Neanderthal introgressed variant-containing enhancer experimental_46191 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25411445 PMID:27569545 PMID:28492532 NCBI chr16:78,327,206...78,327,375 JBrowse link
G LOC132090434 Neanderthal introgressed variant-containing enhancer experimental_46196 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25411445 PMID:27569545 PMID:28492532 NCBI chr16:78,327,531...78,327,700 JBrowse link
G LOC132090435 Neanderthal introgressed variant-containing enhancer experimental_46257 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:24456803 PMID:25411445 PMID:25640679 PMID:27569545 PMID:28492532 More... NCBI chr16:78,427,395...78,427,564 JBrowse link
G MAF MAF bZIP transcription factor IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1
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 chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G MIR1225 microRNA 1225 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,090,195...2,090,284
Ensembl chr16:2,090,195...2,090,284 		JBrowse link
G MLST8 MTOR associated protein, LST8 homolog IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,205,454...2,209,453
Ensembl chr16:2,204,248...2,209,453 		JBrowse link
G NAPB NSF attachment protein beta IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:33189936 NCBI chr20:23,374,522...23,421,488
Ensembl chr20:23,374,519...23,421,519 		JBrowse link
G NRXN2 neurexin 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr11:64,606,174...64,723,197
Ensembl chr11:64,606,174...64,723,197 		JBrowse link
G NTN3 netrin 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,471,297...2,474,145
Ensembl chr16:2,471,297...2,474,145 		JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:20186691 PMID:23733235 PMID:25034272 PMID:25741868 PMID:26626314 More... NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147 		JBrowse link
G PCDH19 protocadherin 19 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr  X:100,291,644...100,410,273
Ensembl chr  X:100,291,644...100,410,273 		JBrowse link
G PCYT1B phosphate cytidylyltransferase 1B, choline IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:24,558,087...24,672,887
Ensembl chr  X:24,558,087...24,672,677 		JBrowse link
G PDK3 pyruvate dehydrogenase kinase 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:24,465,286...24,550,466
Ensembl chr  X:24,465,244...24,550,466 		JBrowse link
G PGP phosphoglycolate phosphatase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,211,593...2,214,840
Ensembl chr16:2,211,593...2,214,840 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,088,708...2,135,898
Ensembl chr16:2,088,708...2,135,898 		JBrowse link
G PLCB1 phospholipase C beta 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360 		JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:24,693,918...24,996,986
Ensembl chr  X:24,693,873...24,996,986 		JBrowse link
G RAB26 RAB26, member RAS oncogene family IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,148,144...2,154,165
Ensembl chr16:2,140,803...2,154,165 		JBrowse link
G REPS2 RALBP1 associated Eps domain containing 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr  X:16,946,658...17,196,655
Ensembl chr  X:16,946,658...17,153,272 		JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,253,116...2,268,126
Ensembl chr16:2,253,116...2,268,397 		JBrowse link
G RS1 retinoschisin 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr  X:18,639,688...18,672,108
Ensembl chr  X:18,639,688...18,672,108 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1
ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome		 ClinVar PMID:11940708 PMID:12083760 PMID:16458823 PMID:17347258 PMID:18804930 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
G SLC25A12 solute carrier family 25 member 12 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859 		JBrowse link
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 1:43,707,536...43,931,159
Ensembl chr 1:43,705,824...43,931,165 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1
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 chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1
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: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar Annotator: match by term: X-linked infantile spasms		 ClinVar PMID:3402014 PMID:9536098 PMID:10574461 PMID:10741954 PMID:16199547 More... NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G TEDC2 tubulin epsilon and delta complex 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,460,109...2,464,963
Ensembl chr16:2,460,086...2,464,963 		JBrowse link
G TPTEP2-CSNK1E TPTEP2-CSNK1E readthrough IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr22:38,290,691...38,398,915
Ensembl chr22:38,291,918...38,398,522 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 IAGP ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr 4:185,399,537...185,425,964
Ensembl chr 4:185,399,537...185,425,979 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile spasms
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome		 ClinVar PMID:9536098 PMID:11572989 PMID:11956080 PMID:16199547 PMID:17576681 More... NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G WWOX-AS1 WWOX antisense RNA 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:27569545 PMID:28492532 NCBI chr16:78,234,662...78,241,751
Ensembl chr16:78,234,652...78,241,989 		JBrowse link
developmental and epileptic encephalopathy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSRNP3 cysteine and serine rich nuclear protein 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11		 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,469,698...165,689,407
Ensembl chr 2:165,469,647...165,689,407 		JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11		 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,747,588...165,794,692
Ensembl chr 2:165,747,588...165,794,659 		JBrowse link
G LOC100506124 uncharacterized LOC100506124 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,857,475...165,871,941 JBrowse link
G LOC120977013 Sharpr-MPRA regulatory region 13511 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,293,739...165,294,033 JBrowse link
G LOC126806396 BRD4-independent group 4 enhancer GRCh37_chr2:166317128-166318327 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,460,618...165,461,817 JBrowse link
G LOC129388938 MPRA-validated peak3912 silencer IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,574,005...165,574,205 JBrowse link
G LOC129935043 ATAC-STARR-seq lymphoblastoid silent region 12066 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More...
G LOC129935044 ATAC-STARR-seq lymphoblastoid active region 16726 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More...
G LOC129935045 ATAC-STARR-seq lymphoblastoid active region 16727 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More...
G LOC129935046 ATAC-STARR-seq lymphoblastoid active region 16728 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More...
G LOC129935047 ATAC-STARR-seq lymphoblastoid active region 16729 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More...
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11		 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214 		JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771 		JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11
ClinVar Annotator: match by term: SCN2A-related disorder
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: SCN2A-related disorder | ClinVar Annotator: match by term: SCN2A-related generalized epilepsy with febrile seizures plus
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: SCN2A-related disorder
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:11326335 PMID:11738931 PMID:12037327 PMID:15028761 More... NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11		 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11		 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G TTC21B tetratricopeptide repeat domain 21B IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11		 ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 2:165,873,362...165,953,776
Ensembl chr 2:165,857,475...165,953,851 		JBrowse link
G TTC21B-AS1 TTC21B antisense RNA 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 ClinVar PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 More... NCBI chr 2:165,933,857...165,948,321
Ensembl chr 2:165,933,857...165,949,891 		JBrowse link
developmental and epileptic encephalopathy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADM5 adrenomedullin 5 (putative) IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,689,594...49,690,575
Ensembl chr19:49,689,594...49,690,575 		JBrowse link
G ALDH16A1 aldehyde dehydrogenase 16 family member A1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,453,225...49,471,050
Ensembl chr19:49,453,225...49,471,050 		JBrowse link
G AP2A1 adaptor related protein complex 2 subunit alpha 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,767,001...49,807,114
Ensembl chr19:49,767,001...49,807,114 		JBrowse link
G BCL2L12 BCL2 like 12 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,665,142...49,673,916
Ensembl chr19:49,665,142...49,673,916 		JBrowse link
G C19orf73 chromosome 19 open reading frame 73 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,118,402...49,119,143
Ensembl chr19:49,118,402...49,119,143 		JBrowse link
G CD37 CD37 molecule IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,335,406...49,340,606
Ensembl chr19:49,335,171...49,343,335 		JBrowse link
G CGB1 chorionic gonadotropin subunit beta 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,035,569...49,036,895
Ensembl chr19:49,035,569...49,036,895 		JBrowse link
G CGB2 chorionic gonadotropin subunit beta 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,031,890...49,033,238
Ensembl chr19:49,031,890...49,033,238 		JBrowse link
G CGB3 chorionic gonadotropin subunit beta 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,022,869...49,024,333
Ensembl chr19:49,022,869...49,024,333 		JBrowse link
G CGB5 chorionic gonadotropin subunit beta 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,043,848...49,045,311
Ensembl chr19:49,043,848...49,045,311 		JBrowse link
G CGB7 chorionic gonadotropin subunit beta 7 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,054,274...49,057,749
Ensembl chr19:49,054,274...49,058,860 		JBrowse link
G CGB8 chorionic gonadotropin subunit beta 8 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,047,638...49,049,111
Ensembl chr19:49,047,638...49,049,111 		JBrowse link
G CPT1C carnitine palmitoyltransferase 1C IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,690,662...49,713,731
Ensembl chr19:49,690,898...49,713,731 		JBrowse link
G DKKL1 dickkopf like acrosomal protein 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,360,515...49,375,116
Ensembl chr19:49,361,783...49,375,116 		JBrowse link
G FCGRT Fc gamma receptor and transporter IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,512,661...49,526,428
Ensembl chr19:49,506,816...49,526,428 		JBrowse link
G FLT3LG fms related receptor tyrosine kinase 3 ligand IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,474,215...49,486,231
Ensembl chr19:49,474,207...49,486,231 		JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376 		JBrowse link
G HRC histidine rich calcium binding protein IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,151,198...49,155,396
Ensembl chr19:49,151,198...49,155,396 		JBrowse link
G IRF3 interferon regulatory factor 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,659,572...49,665,857
Ensembl chr19:49,659,569...49,665,875 		JBrowse link
G KASH5 KASH domain containing 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,388,249...49,417,990
Ensembl chr19:49,388,219...49,417,990 		JBrowse link
G KCNA7 potassium voltage-gated channel subfamily A member 7 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,067,397...49,072,699
Ensembl chr19:49,067,397...49,072,699 		JBrowse link
G KCNH5 potassium voltage-gated channel subfamily H member 5 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12		 ClinVar PMID:23647072 PMID:24133262 PMID:25741868 PMID:28492532 PMID:31440721 More... NCBI chr14:62,699,464...63,045,458
Ensembl chr14:62,699,464...63,102,037 		JBrowse link
G LHB luteinizing hormone subunit beta IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,015,980...49,019,498
Ensembl chr19:49,015,980...49,017,091 		JBrowse link
G LIN7B lin-7 homolog B, crumbs cell polarity complex component IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,114,370...49,118,460
Ensembl chr19:49,114,324...49,118,460 		JBrowse link
G LOC125384577 Sharpr-MPRA regulatory region 2883 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr20:8,858,502...8,858,796 JBrowse link
G LOC130065408 ATAC-STARR-seq lymphoblastoid silent region 12668 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar NCBI chr20:8,132,352...8,132,491 JBrowse link
G LOC130065410 ATAC-STARR-seq lymphoblastoid silent region 12669 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr20:8,722,418...8,722,467 JBrowse link
G MED25 mediator complex subunit 25 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383 		JBrowse link
G MIR150 microRNA 150 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,500,785...49,500,868
Ensembl chr19:49,500,785...49,500,868 		JBrowse link
G NOSIP nitric oxide synthase interacting protein IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,555,468...49,580,556
Ensembl chr19:49,555,468...49,590,262 		JBrowse link
G NTF4 neurotrophin 4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,058,284...49,065,035
Ensembl chr19:49,061,066...49,065,076 		JBrowse link
G PIH1D1 PIH1 domain containing 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,446,298...49,451,814
Ensembl chr19:49,446,298...49,453,497 		JBrowse link
G PLCB1 phospholipase C beta 1 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9305844 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12		 ClinVar PMID:9536098 PMID:10446192 PMID:10446193 PMID:11112660 PMID:11704758 More... NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		JBrowse link
G PPFIA3 PTPRF interacting protein alpha 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,119,544...49,151,026
Ensembl chr19:49,119,544...49,151,026 		JBrowse link
G PRMT1 protein arginine methyltransferase 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,676,153...49,688,447
Ensembl chr19:49,675,786...49,689,029 		JBrowse link
G PRR12 proline rich 12 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439 		JBrowse link
G PRRG2 proline rich and Gla domain 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,580,617...49,591,004
Ensembl chr19:49,580,646...49,591,004 		JBrowse link
G PTH2 parathyroid hormone 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,422,419...49,423,441
Ensembl chr19:49,422,419...49,423,441 		JBrowse link
G PTOV1 PTOV1 extended AT-hook containing adaptor protein IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,850,705...49,860,742
Ensembl chr19:49,850,735...49,860,744 		JBrowse link
G PTOV1-AS2 PTOV1 antisense RNA 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,856,465...49,859,289
Ensembl chr19:49,856,970...49,859,289 		JBrowse link
G RCN3 reticulocalbin 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,528,003...49,543,633
Ensembl chr19:49,528,003...49,546,962 		JBrowse link
G RNU105B RNA, U105B small nucleolar IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr20:8,831,185...8,831,393
Ensembl chr20:8,831,186...8,831,393 		JBrowse link
G RPL13A ribosomal protein L13a IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,487,608...49,492,308
Ensembl chr19:49,487,510...49,493,057 		JBrowse link
G RPS11 ribosomal protein S11 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,496,434...49,499,708
Ensembl chr19:49,496,365...49,499,708 		JBrowse link
G RRAS RAS related IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143 		JBrowse link
G SCAF1 SR-related CTD associated factor 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,640,465...49,658,642
Ensembl chr19:49,642,209...49,658,642 		JBrowse link
G SLC17A7 solute carrier family 17 member 7 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,429,401...49,441,527
Ensembl chr19:49,429,401...49,442,360 		JBrowse link
G SLC6A16 solute carrier family 6 member 16 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,289,638...49,340,330
Ensembl chr19:49,289,638...49,325,215 		JBrowse link
G SNRNP70 small nuclear ribonucleoprotein U1 subunit 70 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,085,451...49,108,604
Ensembl chr19:49,085,419...49,108,605 		JBrowse link
G TEAD2 TEA domain transcription factor 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,340,595...49,362,416
Ensembl chr19:49,340,595...49,362,457 		JBrowse link
G TRPM4 transient receptor potential cation channel subfamily M member 4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,157,792...49,211,836
Ensembl chr19:49,157,741...49,211,836 		JBrowse link
G TSKS testis specific serine kinase substrate IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 ClinVar PMID:28492532 NCBI chr19:49,739,760...49,763,306
Ensembl chr19:49,739,753...49,763,306 		JBrowse link
developmental and epileptic encephalopathy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar PMID:20554659 PMID:25741868 PMID:28492532 NCBI chr 5:126,541,841...126,595,219
Ensembl chr 5:126,531,200...126,595,362 		JBrowse link
G LOC114803470 SCN8A eExon liver enhancer IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:51,662,737...51,663,319 JBrowse link
G LOC121530581 Sharpr-MPRA regulatory region 12802 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr15:51,692,232...51,692,526 JBrowse link
G LOC130057054 ATAC-STARR-seq lymphoblastoid silent region 6433 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr15:51,726,413...51,726,472 JBrowse link
G LOC130057055 ATAC-STARR-seq lymphoblastoid active region 9405 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr15:51,734,431...51,734,490 JBrowse link
G LOC130057056 ATAC-STARR-seq lymphoblastoid active region 9406 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr15:51,734,501...51,734,560 JBrowse link
G LOC130057057 ATAC-STARR-seq lymphoblastoid silent region 6434 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr15:51,735,361...51,735,430 JBrowse link
G LOC130057058 ATAC-STARR-seq lymphoblastoid silent region 6435 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr15:51,737,104...51,737,313 JBrowse link
G LOC130057059 ATAC-STARR-seq lymphoblastoid silent region 6436 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr15:51,737,384...51,737,523 JBrowse link
G LOC130057060 ATAC-STARR-seq lymphoblastoid silent region 6437 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr15:51,737,534...51,737,973 JBrowse link
G LOC130057061 ATAC-STARR-seq lymphoblastoid active region 9407 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr15:51,751,151...51,751,220 JBrowse link
G LOC130057062 ATAC-STARR-seq lymphoblastoid silent region 6438 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr15:51,751,331...51,751,760 JBrowse link
G LOC130057063 ATAC-STARR-seq lymphoblastoid silent region 6439 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr15:51,751,811...51,751,920 JBrowse link
G LOC130057064 ATAC-STARR-seq lymphoblastoid silent region 6440 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr15:51,751,951...51,752,010 JBrowse link
G LYSMD2 LysM domain containing 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr15:51,723,011...51,751,451
Ensembl chr15:51,723,011...51,751,585 		JBrowse link
G SCG3 secretogranin III IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr15:51,681,503...51,721,026
Ensembl chr15:51,681,492...51,721,026 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:12374766 PMID:15525788 PMID:15800189 PMID:17576681 More... NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
G TMOD2 tropomodulin 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 ClinVar NCBI chr15:51,751,597...51,816,363
Ensembl chr15:51,751,597...51,816,363 		JBrowse link
developmental and epileptic encephalopathy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA2 ATP binding cassette subfamily A member 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,007,234...137,028,922
Ensembl chr 9:137,007,234...137,028,915 		JBrowse link
G ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,250,401...133,275,201
Ensembl chr 9:133,233,278...133,276,024 		JBrowse link
G ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,414,337...133,459,386
Ensembl chr 9:133,414,358...133,459,402 		JBrowse link
G ADAMTSL2 ADAMTS like 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519 		JBrowse link
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,673,143...136,687,457
Ensembl chr 9:136,673,143...136,687,457 		JBrowse link
G AJM1 apical junction component 1 homolog IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,842,478...136,848,801
Ensembl chr 9:136,842,478...136,848,801 		JBrowse link
G AK8 adenylate kinase 8 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:132,725,578...132,879,046
Ensembl chr 9:132,725,578...132,878,777 		JBrowse link
G AL590627.1 forkhead box H1 (FOXH1) pseudogene IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,784,073...137,788,406
Ensembl chr 9:137,776,539...137,789,235 		JBrowse link
G ANAPC2 anaphase promoting complex subunit 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,174,784...137,188,560
Ensembl chr 9:137,174,784...137,188,560 		JBrowse link
G ARRDC1 arrestin domain containing 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,605,686...137,615,360
Ensembl chr 9:137,605,685...137,615,360 		JBrowse link
G BARHL1 BarH like homeobox 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:132,582,606...132,590,252
Ensembl chr 9:132,582,606...132,590,252 		JBrowse link
G BRD3 bromodomain containing 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:134,030,305...134,068,548
Ensembl chr 9:134,030,305...134,068,535 		JBrowse link
G C8G complement C8 gamma chain IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,945,243...136,946,975
Ensembl chr 9:136,945,185...136,946,975 		JBrowse link
G C9orf163 chromosome 9 putative open reading frame 163 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,483,495...136,486,067
Ensembl chr 9:136,483,495...136,486,067 		JBrowse link
G CACFD1 calcium channel flower domain containing 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,459,978...133,470,848
Ensembl chr 9:133,459,965...133,470,848 		JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624 		JBrowse link
G CAMSAP1 calmodulin regulated spectrin associated protein 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:135,808,487...135,907,546
Ensembl chr 9:135,808,487...135,907,546 		JBrowse link
G CARD9 caspase recruitment domain family member 9 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,363,956...136,373,669
Ensembl chr 9:136,363,956...136,373,681 		JBrowse link
G CCDC183 coiled-coil domain containing 183 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,796,338...136,807,741
Ensembl chr 9:136,796,338...136,807,741 		JBrowse link
G CEL carboxyl ester lipase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,061,981...133,071,861
Ensembl chr 9:133,061,981...133,071,861 		JBrowse link
G CFAP77 cilia and flagella associated protein 77 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:132,410,211...132,573,319
Ensembl chr 9:132,410,043...132,573,319 		JBrowse link
G CIMIP2A ciliary microtubule inner protein 2A IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,243,599...137,255,122
Ensembl chr 9:137,243,584...137,247,770 		JBrowse link
G CLIC3 chloride intracellular channel 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,994,608...136,996,568
Ensembl chr 9:136,994,608...136,996,568 		JBrowse link
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843 		JBrowse link
G CYSRT1 cysteine rich tail 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,225,174...137,226,315
Ensembl chr 9:137,225,174...137,226,315 		JBrowse link
G DBH dopamine beta-hydroxylase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329 		JBrowse link
G DDX31 DEAD-box helicase 31 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:132,592,997...132,669,983
Ensembl chr 9:132,592,997...132,670,401 		JBrowse link
G DIPK1B divergent protein kinase domain 1B IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,712,572...136,724,742
Ensembl chr 9:136,712,572...136,724,742 		JBrowse link
G DNLZ DNL-type zinc finger IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,359,483...136,363,744
Ensembl chr 9:136,359,480...136,363,744 		JBrowse link
G DPH7 diphthamide biosynthesis 7 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,554,444...137,578,925
Ensembl chr 9:137,554,444...137,578,925 		JBrowse link
G DPP7 dipeptidyl peptidase 7 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,110,546...137,118,306
Ensembl chr 9:137,110,542...137,118,309 		JBrowse link
G EDF1 endothelial differentiation related factor 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,862,119...136,866,308
Ensembl chr 9:136,862,119...136,866,308 		JBrowse link
G EGFL7 EGF like domain multiple 7 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,658,856...136,672,678
Ensembl chr 9:136,658,856...136,672,678 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016 		JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,048,107...137,054,061
Ensembl chr 9:137,048,107...137,054,061 		JBrowse link
G ENTPD8 ectonucleoside triphosphate diphosphohydrolase 8 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,434,364...137,441,357
Ensembl chr 9:137,434,364...137,441,816 		JBrowse link
G ENTR1 endosome associated trafficking regulator 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,401,922...136,410,614
Ensembl chr 9:136,401,922...136,410,614 		JBrowse link
G EXD3 exonuclease 3'-5' domain containing 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,306,896...137,423,162
Ensembl chr 9:137,306,896...137,423,211 		JBrowse link
G FAM163B family with sequence similarity 163 member B IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,577,081...133,609,389
Ensembl chr 9:133,577,081...133,609,389 		JBrowse link
G FBXW5 F-box and WD repeat domain containing 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,940,435...136,944,738
Ensembl chr 9:136,940,435...136,944,738 		JBrowse link
G FCN1 ficolin 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:134,903,232...134,917,912
Ensembl chr 9:134,903,232...134,917,912 		JBrowse link
G FCN2 ficolin 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:134,864,144...134,887,523
Ensembl chr 9:134,880,810...134,887,523 		JBrowse link
G FUT7 fucosyltransferase 7 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,030,174...137,032,088
Ensembl chr 9:137,030,174...137,032,088 		JBrowse link
G GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,152,948...133,163,914
Ensembl chr 9:133,152,948...133,163,933 		JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:132,945,531...132,993,434
Ensembl chr 9:132,944,000...132,991,687 		JBrowse link
G GLT6D1 glycosyltransferase 6 domain containing 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:135,623,648...135,641,216
Ensembl chr 9:135,623,648...135,639,540 		JBrowse link
G GPSM1 G protein signaling modulator 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,327,539...136,359,601
Ensembl chr 9:136,327,476...136,359,605 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G GTF3C4 general transcription factor IIIC subunit 4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:132,670,035...132,694,955
Ensembl chr 9:132,670,035...132,694,953 		JBrowse link
G GTF3C5 general transcription factor IIIC subunit 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,030,708...133,058,503
Ensembl chr 9:133,030,675...133,058,503 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 | ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy
OMIM:614959
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:16025100 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508 		JBrowse link
G LCN1 lipocalin 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:135,521,440...135,526,540
Ensembl chr 9:135,521,438...135,526,540 		JBrowse link
G LCN10 lipocalin 10 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,738,170...136,742,940
Ensembl chr 9:136,738,167...136,743,356 		JBrowse link
G LCN12 lipocalin 12 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,949,197...136,956,538
Ensembl chr 9:136,949,551...136,955,497 		JBrowse link
G LCN15 lipocalin 15 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,759,634...136,764,518
Ensembl chr 9:136,759,634...136,766,255 		JBrowse link
G LCN6 lipocalin 6 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,744,017...136,748,525
Ensembl chr 9:136,744,017...136,748,525 		JBrowse link
G LCN8 lipocalin 8 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,754,386...136,758,543
Ensembl chr 9:136,754,386...136,758,543 		JBrowse link
G LCN9 lipocalin 9 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:135,663,309...135,666,961
Ensembl chr 9:135,663,309...135,666,961 		JBrowse link
G LCNL1 lipocalin like 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,982,993...136,985,758
Ensembl chr 9:136,981,904...136,986,410 		JBrowse link
G LHX3 LIM homeobox 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G LINC02907 long intergenic non-protein coding RNA 2907 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:135,343,249...135,346,562
Ensembl chr 9:135,343,249...135,346,562 		JBrowse link
G LINC02908 long intergenic non-protein coding RNA 2908 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,027,464...137,037,955
Ensembl chr 9:137,027,464...137,037,957 		JBrowse link
G LRRC26 leucine rich repeat containing 26 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,168,758...137,170,051
Ensembl chr 9:137,168,758...137,170,051 		JBrowse link
G MAMDC4 MAM domain containing 4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,852,346...136,860,799
Ensembl chr 9:136,850,943...136,860,799 		JBrowse link
G MAN1B1 mannosidase alpha class 1B member 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,086,985...137,109,183
Ensembl chr 9:137,086,857...137,109,189 		JBrowse link
G MED22 mediator complex subunit 22 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,338,312...133,348,131
Ensembl chr 9:133,338,312...133,348,131 		JBrowse link
G MIR126 microRNA 126 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,670,602...136,670,686
Ensembl chr 9:136,670,602...136,670,686 		JBrowse link
G MRPL41 mitochondrial ribosomal protein L41 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,551,879...137,552,555
Ensembl chr 9:137,551,879...137,552,555 		JBrowse link
G MRPS2 mitochondrial ribosomal protein S2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:135,499,965...135,504,673
Ensembl chr 9:135,499,984...135,504,673 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G NACC2 NACC family member 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,006,537...136,095,289
Ensembl chr 9:136,006,537...136,095,289 		JBrowse link
G NDOR1 NADPH dependent diflavin oxidoreductase 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,205,700...137,219,361
Ensembl chr 9:137,205,685...137,219,361 		JBrowse link
G NELFB negative elongation factor complex member B IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,255,327...137,273,542
Ensembl chr 9:137,255,327...137,273,542 		JBrowse link
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NOXA1 NADPH oxidase activator 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,423,393...137,434,406
Ensembl chr 9:137,423,350...137,434,406 		JBrowse link
G NPDC1 neural proliferation, differentiation and control 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,039,463...137,046,177
Ensembl chr 9:137,039,463...137,046,179 		JBrowse link
G NRARP NOTCH regulated ankyrin repeat protein IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,299,631...137,302,271
Ensembl chr 9:137,299,631...137,302,271 		JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334 		JBrowse link
G OBP2A odorant binding protein 2A IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:135,546,126...135,549,969
Ensembl chr 9:135,546,126...135,549,969 		JBrowse link
G OBP2B odorant binding protein 2B IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,205,279...133,223,255
Ensembl chr 9:133,205,277...133,209,250 		JBrowse link
G OLFM1 olfactomedin 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:135,075,505...135,121,184
Ensembl chr 9:135,075,422...135,121,180 		JBrowse link
G PAEP progestagen associated endometrial protein IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:135,561,756...135,566,955
Ensembl chr 9:135,561,756...135,566,955 		JBrowse link
G PAXX PAXX non-homologous end joining factor IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,992,422...136,993,976
Ensembl chr 9:136,992,422...136,993,984 		JBrowse link
G PHPT1 phosphohistidine phosphatase 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,849,409...136,851,024
Ensembl chr 9:136,848,724...136,851,027 		JBrowse link
G PIERCE1 piercer of microtubule wall 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:135,495,181...135,499,869
Ensembl chr 9:135,495,181...135,501,734 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992 		JBrowse link
G PNPLA7 patatin like phospholipase domain containing 7 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,459,952...137,550,402
Ensembl chr 9:137,459,952...137,550,402 		JBrowse link
G PPP1R26 protein phosphatase 1 regulatory subunit 26 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:135,479,066...135,488,892
Ensembl chr 9:135,479,079...135,488,893 		JBrowse link
G PTGDS prostaglandin D2 synthase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,977,504...136,981,742
Ensembl chr 9:136,975,092...136,981,742 		JBrowse link
G QSOX2 quiescin sulfhydryl oxidase 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,206,333...136,245,812
Ensembl chr 9:136,206,333...136,245,812 		JBrowse link
G RABL6 RAB, member RAS oncogene family like 6 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,807,948...136,841,187
Ensembl chr 9:136,807,943...136,841,187 		JBrowse link
G RALGDS ral guanine nucleotide dissociation stimulator IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,097,722...133,149,210
Ensembl chr 9:133,097,720...133,149,334 		JBrowse link
G REXO4 REX4 homolog, 3'-5' exonuclease IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,406,058...133,418,172
Ensembl chr 9:133,406,059...133,418,096 		JBrowse link
G RNF208 ring finger protein 208 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,220,259...137,223,408
Ensembl chr 9:137,220,247...137,222,240 		JBrowse link
G RNF224 ring finger protein 224 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,227,502...137,229,640
Ensembl chr 9:137,227,502...137,229,640 		JBrowse link
G RNU6ATAC RNA, U6atac small nuclear IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:134,164,440...134,164,564
Ensembl chr 9:134,164,439...134,164,564 		JBrowse link
G RPL7A ribosomal protein L7a IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,348,218...133,351,426
Ensembl chr 9:133,348,218...133,351,426 		JBrowse link
G RXRA retinoid X receptor alpha IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585 		JBrowse link
G SAPCD2 suppressor APC domain containing 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,062,127...137,070,557
Ensembl chr 9:137,062,127...137,070,557 		JBrowse link
G SARDH sarcosine dehydrogenase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,659,418...133,739,955
Ensembl chr 9:133,663,560...133,739,955 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy ClinVar PMID:25741868 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SEC16A SEC16 homolog A, endoplasmic reticulum export factor IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,440,105...136,484,740
Ensembl chr 9:136,440,096...136,483,759 		JBrowse link
G SETX senataxin IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986 		JBrowse link
G SLC2A6 solute carrier family 2 member 6 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,471,094...133,479,099
Ensembl chr 9:133,471,094...133,479,127 		JBrowse link
G SLC34A3 solute carrier family 34 member 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,229,730...137,236,555
Ensembl chr 9:137,230,757...137,236,555 		JBrowse link
G SNAPC4 small nuclear RNA activating complex polypeptide 4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,375,571...136,400,170
Ensembl chr 9:136,375,567...136,400,176 		JBrowse link
G SNHG7 small nucleolar RNA host gene 7 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,724,594...136,728,184
Ensembl chr 9:136,721,366...136,728,184 		JBrowse link
G SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 More... NCBI chr 9:135,693,407...135,702,112
Ensembl chr 9:135,693,407...135,704,498 		JBrowse link
G SPACA9 sperm acrosome associated 9 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:132,878,344...132,890,314
Ensembl chr 9:132,878,027...132,890,201 		JBrowse link
G SSNA1 SS nuclear autoantigen 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,188,676...137,190,366
Ensembl chr 9:137,188,660...137,190,370 		JBrowse link
G STKLD1 serine/threonine kinase like domain containing 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,376,366...133,406,096
Ensembl chr 9:133,376,366...133,406,096 		JBrowse link
G STPG3 sperm-tail PG-rich repeat containing 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,251,286...137,253,483
Ensembl chr 9:137,251,261...137,253,483 		JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676 		JBrowse link
G SURF2 surfeit 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,356,550...133,361,158
Ensembl chr 9:133,356,550...133,361,158 		JBrowse link
G SURF4 surfeit 4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,361,464...133,377,949
Ensembl chr 9:133,361,450...133,376,166 		JBrowse link
G SURF6 surfeit 6 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,328,776...133,336,188
Ensembl chr 9:133,328,776...133,336,188 		JBrowse link
G TMEM141 transmembrane protein 141 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,791,344...136,793,317
Ensembl chr 9:136,791,344...136,793,317 		JBrowse link
G TMEM203 transmembrane protein 203 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,204,082...137,205,648
Ensembl chr 9:137,204,082...137,205,648 		JBrowse link
G TMEM210 transmembrane protein 210 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,170,858...137,172,056
Ensembl chr 9:137,170,858...137,172,056 		JBrowse link
G TMEM250 transmembrane protein 250 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,107,767...136,118,875
Ensembl chr 9:136,114,581...136,118,875 		JBrowse link
G TOR4A torsin family 4 member A IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,277,726...137,282,641
Ensembl chr 9:137,277,726...137,282,641 		JBrowse link
G TPRN taperin IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,191,619...137,200,741
Ensembl chr 9:137,191,617...137,204,193 		JBrowse link
G TRAF2 TNF receptor associated factor 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:136,881,958...136,926,607
Ensembl chr 9:136,881,912...136,926,607 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TTF1 transcription termination factor 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:132,375,548...132,406,840
Ensembl chr 9:132,375,548...132,406,851 		JBrowse link
G TUBB4B tubulin beta 4B class IVb IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,241,287...137,243,707
Ensembl chr 9:137,241,287...137,243,707 		JBrowse link
G UAP1L1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,077,517...137,084,538
Ensembl chr 9:137,077,517...137,084,539 		JBrowse link
G UBAC1 UBA domain containing 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14		 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:135,932,969...135,961,373
Ensembl chr 9:135,932,969...135,961,373 		JBrowse link
G VAV2 vav guanine nucleotide exchange factor 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:133,761,894...133,992,324
Ensembl chr 9:133,761,894...133,992,604 		JBrowse link
G WDR5 WD repeat domain 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:28492532 NCBI chr 9:134,135,199...134,159,968
Ensembl chr 9:134,135,365...134,159,968 		JBrowse link
G ZMYND19 zinc finger MYND-type containing 19 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 ClinVar PMID:16025100 PMID:19264732 PMID:19597493 PMID:19668216 PMID:21457232 More... NCBI chr 9:137,582,081...137,590,512
Ensembl chr 9:137,582,081...137,590,512 		JBrowse link
developmental and epileptic encephalopathy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 15 ClinVar PMID:23086397 PMID:24319675 PMID:25326635 PMID:25326637 PMID:25482562 More... NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508 		JBrowse link
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 15 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 15 | ClinVar Annotator: match by term: Epilepsy due to perinatal stroke OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:23252400 PMID:25741868 PMID:26467025 More... NCBI chr 1:43,707,536...43,931,159
Ensembl chr 1:43,705,824...43,931,165 		JBrowse link
G ST3GAL3-AS1 ST3GAL3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 15 ClinVar NCBI chr 1:43,709,392...43,727,343
Ensembl chr 1:43,709,392...43,727,343 		JBrowse link
developmental and epileptic encephalopathy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBC1D24 TBC1 domain family member 24 IAGP
ISS		 ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 16
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 16
OMIM:615338		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:23526554 PMID:23806086 PMID:24033266 More... NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
developmental and epileptic encephalopathy 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAO1 G protein subunit alpha o1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 17
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 17
OMIM:615473
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:23993195 PMID:25356970 More... NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,191,390...56,357,444 		JBrowse link
developmental and epileptic encephalopathy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EP300 E1A binding protein p300 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 18 ClinVar PMID:28492532 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077 		JBrowse link
G HYI hydroxypyruvate isomerase (putative) IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 ClinVar PMID:25741868 NCBI chr 1:43,450,607...43,453,931
Ensembl chr 1:43,450,989...43,453,989 		JBrowse link
G LOC126863158 BRD4-independent group 4 enhancer GRCh37_chr22:41547383-41548582 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 18 ClinVar PMID:28492532 NCBI chr22:41,151,379...41,152,578 JBrowse link
G LOC129930379 ATAC-STARR-seq lymphoblastoid silent region 783 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 ClinVar PMID:25741868 PMID:28492532
G SZT2 SZT2 subunit of KICSTOR complex IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 18 | ClinVar Annotator: match by term: SZT2-related condition
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 | ClinVar Annotator: match by term: SZT2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23932106 PMID:25741868 More... NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247 		JBrowse link
G SZT2-AS1 SZT2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 18 | ClinVar Annotator: match by term: SZT2-related condition		 ClinVar PMID:23932106 PMID:25741868 PMID:27248490 PMID:28492532 PMID:28556953 NCBI chr 1:43,447,776...43,448,644
Ensembl chr 1:43,447,776...43,448,644 		JBrowse link
developmental and epileptic encephalopathy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 19
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:16718694 PMID:18414213 PMID:24623842 PMID:25741868 PMID:26467025 More... NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981 		JBrowse link
developmental and epileptic encephalopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG2 adhesion G protein-coupled receptor G2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:18,989,307...19,122,956
Ensembl chr  X:18,989,307...19,122,637 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:25741868 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G BCLAF3 BCLAF1 and THRAP3 family member 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:19,912,860...19,991,061
Ensembl chr  X:19,912,860...19,991,061 		JBrowse link
G BEND2 BEN domain containing 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:18,162,931...18,220,886
Ensembl chr  X:18,162,931...18,220,886 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 severity IAGP
ISS
EXP		 DNA:mutations:cds:
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2
ClinVar Annotator: match by term: CDKL5 disorder | ClinVar Annotator: match by term: CDKL5-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: CDKL5 disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2
OMIM:300672
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:10533068 PMID:15492925 PMID:15499549 PMID:15689447 More... RGD:12791015 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:20,124,525...20,141,838
Ensembl chr  X:20,124,525...20,141,838 		JBrowse link
G LOC121853052 Sharpr-MPRA regulatory region 2020 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:25741868 NCBI chr  X:18,425,229...18,425,523 JBrowse link
G LOC130067999 ATAC-STARR-seq lymphoblastoid silent region 20685 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17256798 PMID:19471977 PMID:19780792 PMID:19807736 PMID:21293276 More... NCBI chr  X:18,425,859...18,425,928 JBrowse link
G MAP3K15 mitogen-activated protein kinase kinase kinase 15 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:19,360,059...19,515,508
Ensembl chr  X:19,360,056...19,515,508 		JBrowse link
G MAP7D2 MAP7 domain containing 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:20,006,713...20,116,907
Ensembl chr  X:20,006,713...20,116,907 		JBrowse link
G NHS NHS actin remodeling regulator IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:18,892,298...18,984,114
Ensembl chr  X:18,892,298...18,984,114 		JBrowse link
G PPEF1 protein phosphatase with EF-hand domain 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:18,675,067...18,827,917
Ensembl chr  X:18,675,909...18,827,921 		JBrowse link
G RAI2 retinoic acid induced 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:17,800,049...17,861,298
Ensembl chr  X:17,800,049...17,861,337 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		JBrowse link
G RS1 retinoschisin 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2		 ClinVar PMID:9536098 PMID:10533068 PMID:15499549 PMID:16813600 PMID:17304053 More... NCBI chr  X:18,639,688...18,672,108
Ensembl chr  X:18,639,688...18,672,108 		JBrowse link
G SCML1 Scm polycomb group protein like 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:17,737,128...17,754,985
Ensembl chr  X:17,737,449...17,754,988 		JBrowse link
G SCML2 Scm polycomb group protein like 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:19780792 PMID:21770923 PMID:22872100 More... NCBI chr  X:18,239,313...18,355,118
Ensembl chr  X:18,239,313...18,354,688 		JBrowse link
G SH3KBP1 SH3 domain containing kinase binding protein 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 NCBI chr  X:19,533,977...19,887,600
Ensembl chr  X:19,533,977...19,887,600 		JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 ClinVar PMID:25741868 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258 		JBrowse link
developmental and epileptic encephalopathy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2ML1 alpha-2-macroglobulin like 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:8,822,621...8,887,459
Ensembl chr12:8,822,621...8,887,001 		JBrowse link
G ACSM4 acyl-CoA synthetase medium chain family member 4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:7,304,072...7,328,719
Ensembl chr12:7,304,072...7,328,719 		JBrowse link
G AICDA activation induced cytidine deaminase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:8,602,170...8,612,859
Ensembl chr12:8,602,155...8,613,242 		JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:7,649,400...7,670,599
Ensembl chr12:7,649,400...7,665,908 		JBrowse link
G ATN1 atrophin 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G C12orf57 chromosome 12 open reading frame 57 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003 		JBrowse link
G C1R complement C1r IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540 		JBrowse link
G C1RL complement C1r subcomponent like IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:7,094,554...7,109,214
Ensembl chr12:7,089,587...7,109,238 		JBrowse link
G C1S complement C1s IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032 		JBrowse link
G C3AR1 complement C3a receptor 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:8,056,844...8,066,359
Ensembl chr12:8,056,844...8,066,359 		JBrowse link
G CD163 CD163 molecule IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893 		JBrowse link
G CD163L1 CD163 molecule like 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:7,318,768...7,444,153
Ensembl chr12:7,346,685...7,479,897 		JBrowse link
G CDCA3 cell division cycle associated 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:6,844,798...6,851,286
Ensembl chr12:6,844,793...6,851,292 		JBrowse link
G CLEC4A C-type lectin domain family 4 member A IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:8,102,907...8,138,607
Ensembl chr12:8,123,617...8,138,607 		JBrowse link
G CLEC4C C-type lectin domain family 4 member C IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:7,729,383...7,749,541
Ensembl chr12:7,729,383...7,751,605 		JBrowse link
G CLEC4D C-type lectin domain family 4 member D IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:8,513,503...8,531,696
Ensembl chr12:8,509,475...8,522,366 		JBrowse link
G CLEC4E C-type lectin domain family 4 member E IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:8,533,275...8,540,905
Ensembl chr12:8,533,305...8,540,905 		JBrowse link
G CLEC6A C-type lectin domain containing 6A IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:8,455,962...8,478,330
Ensembl chr12:8,455,962...8,478,330 		JBrowse link
G CLSTN3 calsyntenin 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:7,129,093...7,158,945
Ensembl chr12:7,129,698...7,158,945 		JBrowse link
G DPPA3 developmental pluripotency associated 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:7,711,433...7,717,559
Ensembl chr12:7,711,433...7,717,559 		JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,979,936 		JBrowse link
G ENO2 enolase 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:6,914,580...6,923,697
Ensembl chr12:6,913,745...6,923,698 		JBrowse link
G FAM90A1 family with sequence similarity 90 member A1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:8,221,260...8,227,618
Ensembl chr12:8,221,260...8,227,618 		JBrowse link
G FOXJ2 forkhead box J2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:8,032,716...8,055,517
Ensembl chr12:8,032,716...8,055,517 		JBrowse link
G GDF3 growth differentiation factor 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775 		JBrowse link
G GNB3 G protein subunit beta 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:6,840,925...6,847,393
Ensembl chr12:6,839,954...6,847,393 		JBrowse link
G LOC126861440 MED14-independent group 3 enhancer GRCh37_chr12:8234132-8235331 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21		 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr12:8,081,536...8,082,735 JBrowse link
G LPCAT3 lysophosphatidylcholine acyltransferase 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:6,976,185...7,018,476
Ensembl chr12:6,976,185...7,018,477 		JBrowse link
G LRRC23 leucine rich repeat containing 23 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:6,904,822...6,914,229
Ensembl chr12:6,873,569...6,914,241 		JBrowse link
G MFAP5 microfibril associated protein 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888 		JBrowse link
G MIR141 microRNA 141 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:6,964,097...6,964,191
Ensembl chr12:6,964,097...6,964,191 		JBrowse link
G MIR200C microRNA 200c IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:6,963,699...6,963,766
Ensembl chr12:6,963,699...6,963,766 		JBrowse link
G NANOG Nanog homeobox IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:7,789,402...7,799,146
Ensembl chr12:7,787,794...7,799,146 		JBrowse link
G NANOGNB NANOG neighbor homeobox IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:7,765,216...7,774,121
Ensembl chr12:7,765,216...7,774,121 		JBrowse link
G NECAP1 NECAP endocytosis associated 1 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:24399846 PMID:25558065 PMID:25741868 More... NCBI chr12:8,082,274...8,097,881
Ensembl chr12:8,076,939...8,097,881 		JBrowse link
G P3H3 prolyl 3-hydroxylase 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:6,828,407...6,839,847
Ensembl chr12:6,828,407...6,839,847 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G PHB2 prohibitin 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:6,965,327...6,970,753
Ensembl chr12:6,965,327...6,970,780 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316 		JBrowse link
G RBP5 retinol binding protein 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:7,115,736...7,130,005
Ensembl chr12:7,115,736...7,128,889 		JBrowse link
G RIMKLB ribosomal modification protein rimK like family member B IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:8,668,638...8,783,091
Ensembl chr12:8,681,600...8,783,095 		JBrowse link
G SLC2A14 solute carrier family 2 member 14 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:7,812,514...7,891,196
Ensembl chr12:7,812,512...7,891,148 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007 		JBrowse link
G SPSB2 splA/ryanodine receptor domain and SOCS box containing 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:6,870,935...6,873,303
Ensembl chr12:6,870,935...6,889,358 		JBrowse link
G TPI1 triosephosphate isomerase 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948 		JBrowse link
G USP5 ubiquitin specific peptidase 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:6,852,150...6,866,632
Ensembl chr12:6,852,148...6,866,632 		JBrowse link
G ZNF705A zinc finger protein 705A IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 ClinVar PMID:28492532 NCBI chr12:8,157,015...8,180,046
Ensembl chr12:8,157,015...8,188,537 		JBrowse link
developmental and epileptic encephalopathy 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG6 ALG6 alpha-1,3-glucosyltransferase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 ClinVar PMID:28492532 NCBI chr 1:63,367,627...63,438,553
Ensembl chr 1:63,367,575...63,438,553 		JBrowse link
G ANGPTL3 angiopoietin like 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 ClinVar PMID:22247256 PMID:24814191 PMID:25741868 PMID:28492532 NCBI chr 1:62,597,520...62,606,313
Ensembl chr 1:62,597,520...62,606,313 		JBrowse link
G ATG4C autophagy related 4C cysteine peptidase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 ClinVar PMID:28492532 NCBI chr 1:62,784,132...62,865,516
Ensembl chr 1:62,784,132...62,865,516 		JBrowse link
G DOCK7 dedicator of cytokinesis 7 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22247256 PMID:24814191 More... NCBI chr 1:62,454,726...62,688,386
Ensembl chr 1:62,454,298...62,688,386 		JBrowse link
G FOXD3 forkhead box D3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 ClinVar PMID:28492532 NCBI chr 1:63,322,567...63,325,128
Ensembl chr 1:63,322,567...63,325,128 		JBrowse link
G LOC129930655 ATAC-STARR-seq lymphoblastoid silent region 946 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 23 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532
developmental and epileptic encephalopathy 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 24
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 24
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:24747641 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 More... NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498 		JBrowse link
developmental and epileptic encephalopathy 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADVL acyl-CoA dehydrogenase very long chain IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266 		JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199 		JBrowse link
G ALOX12 arachidonate 12-lipoxygenase, 12S type IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:6,996,049...7,010,754
Ensembl chr17:6,996,049...7,010,754 		JBrowse link
G ASGR1 asialoglycoprotein receptor 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:7,173,431...7,179,370
Ensembl chr17:7,173,431...7,179,564 		JBrowse link
G ASGR2 asialoglycoprotein receptor 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:7,101,322...7,115,146
Ensembl chr17:7,101,322...7,115,700 		JBrowse link
G BCL6B BCL6B transcription repressor IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:7,023,050...7,029,644
Ensembl chr17:7,023,050...7,030,290 		JBrowse link
G C17orf100 chromosome 17 open reading frame 100 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,651,762...6,653,476
Ensembl chr17:6,651,762...6,693,202 		JBrowse link
G C17orf49 chromosome 17 open reading frame 49 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:7,014,782...7,017,520
Ensembl chr17:7,014,495...7,017,525 		JBrowse link
G C1QBP complement C1q binding protein IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:5,432,777...5,439,155
Ensembl chr17:5,432,777...5,448,830 		JBrowse link
G CLEC10A C-type lectin domain containing 10A IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:7,074,537...7,080,251
Ensembl chr17:7,074,537...7,080,307 		JBrowse link
G DERL2 derlin 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:5,471,254...5,486,817
Ensembl chr17:5,471,254...5,486,811 		JBrowse link
G DHX33 DEAH-box helicase 33 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:5,440,917...5,468,982
Ensembl chr17:5,440,917...5,468,982 		JBrowse link
G DLG4 discs large MAGUK scaffold protein 4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:7,187,187...7,220,050
Ensembl chr17:7,187,187...7,219,841 		JBrowse link
G FBXO39 F-box protein 39 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:6,776,215...6,787,646
Ensembl chr17:6,776,215...6,797,101 		JBrowse link
G KIAA0753 KIAA0753 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G MED31 mediator complex subunit 31 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,643,311...6,651,605
Ensembl chr17:6,643,311...6,651,634 		JBrowse link
G MIR195 microRNA 195 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:7,017,615...7,017,701
Ensembl chr17:7,017,615...7,017,701 		JBrowse link
G MIR497HG mir-497-195 cluster host gene IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:7,015,818...7,019,654
Ensembl chr17:7,015,818...7,019,659 		JBrowse link
G MIS12 MIS12 kinetochore complex component IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:5,486,374...5,490,811
Ensembl chr17:5,486,285...5,490,814 		JBrowse link
G NLRP1 NLR family pyrin domain containing 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424 		JBrowse link
G NUP88 nucleoporin 88 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164 		JBrowse link
G PIMREG PICALM interacting mitotic regulator IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,444,455...6,451,469
Ensembl chr17:6,444,441...6,451,469 		JBrowse link
G PITPNM3 PITPNM family member 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,451,263...6,556,555
Ensembl chr17:6,451,263...6,556,555 		JBrowse link
G RNASEK ribonuclease K IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:7,012,624...7,014,532
Ensembl chr17:7,012,417...7,014,532 		JBrowse link
G RPAIN RPA interacting protein IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:5,420,182...5,432,877
Ensembl chr17:5,419,641...5,432,877 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25, WITH AMELOGENESIS IMPERFECTA | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:10615133 PMID:15249368 PMID:15347646 PMID:16199547 More... NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377 		JBrowse link
G SLC16A11 solute carrier family 16 member 11 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:7,041,621...7,044,092
Ensembl chr17:7,041,621...7,044,092 		JBrowse link
G SLC16A13 solute carrier family 16 member 13 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:7,036,015...7,040,117
Ensembl chr17:7,036,015...7,040,117 		JBrowse link
G TEKT1 tektin 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:6,797,993...6,831,729
Ensembl chr17:6,789,133...6,831,761 		JBrowse link
G TXNDC17 thioredoxin domain containing 17 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:28492532 NCBI chr17:6,641,060...6,644,541
Ensembl chr17:6,640,985...6,644,541 		JBrowse link
G WSCD1 WSC domain containing 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:6,069,116...6,124,427
Ensembl chr17:6,057,807...6,124,427 		JBrowse link
G XAF1 XIAP associated factor 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25 ClinVar PMID:28492532 NCBI chr17:6,755,447...6,775,647
Ensembl chr17:6,755,447...6,775,647 		JBrowse link
developmental and epileptic encephalopathy 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar PMID:28492532 NCBI chr20:48,921,711...49,036,693
Ensembl chr20:48,921,711...49,036,693 		JBrowse link
G CSE1L chromosome segregation 1 like IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar PMID:28492532 NCBI chr20:49,046,312...49,096,949
Ensembl chr20:49,046,246...49,096,960 		JBrowse link
G DDX27 DEAD-box helicase 27 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar PMID:28492532 NCBI chr20:49,219,416...49,244,073
Ensembl chr20:49,219,347...49,244,077 		JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 exacerbates
susceptibility		 IAGP
EXP
ISO		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26
ClinVar Annotator: match by term: KCNB1-related disorder
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:CDS:p.G379R (mouse)
DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human)		 ClinVar
CTD
OMIM
RGD		 PMID:3153310 PMID:8698327 PMID:9536098 PMID:17576681 PMID:19029374 More... RGD:126908009, RGD:126908008 NCBI chr20:49,363,877...49,483,362
Ensembl chr20:49,293,394...49,484,297 		JBrowse link
G LOC112694720 Sharpr-MPRA regulatory region 13855 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar NCBI chr20:49,278,112...49,278,761 JBrowse link
G LOC130066087 ATAC-STARR-seq lymphoblastoid active region 18056 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar NCBI chr20:49,272,853...49,272,932 JBrowse link
G LOC130066088 ATAC-STARR-seq lymphoblastoid active region 18057 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar NCBI chr20:49,277,232...49,277,291 JBrowse link
G LOC130066089 ATAC-STARR-seq lymphoblastoid active region 18059 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar NCBI chr20:49,290,337...49,290,446 JBrowse link
G LOC130066090 ATAC-STARR-seq lymphoblastoid active region 18060 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar NCBI chr20:49,291,482...49,291,581 JBrowse link
G LOC130066091 ATAC-STARR-seq lymphoblastoid active region 18061 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar NCBI chr20:49,334,178...49,334,237 JBrowse link
G SNORD12 small nucleolar RNA, C/D box 12 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar NCBI chr20:49,280,683...49,280,772
Ensembl chr20:49,280,683...49,280,772 		JBrowse link
G SNORD12B small nucleolar RNA, C/D box 12B IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar NCBI chr20:49,280,313...49,280,415
Ensembl chr20:49,280,319...49,280,409 		JBrowse link
G SNORD12C small nucleolar RNA, C/D box 12C IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar NCBI chr20:49,278,945...49,279,023
Ensembl chr20:49,278,940...49,279,028 		JBrowse link
G STAU1 staufen double-stranded RNA binding protein 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar PMID:28492532 NCBI chr20:49,113,339...49,219,295
Ensembl chr20:49,113,339...49,188,367 		JBrowse link
G ZFAS1 ZNFX1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar NCBI chr20:49,278,178...49,289,260
Ensembl chr20:49,278,178...49,299,600 		JBrowse link
G ZNFX1 zinc finger NFX1-type containing 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 ClinVar PMID:28492532 NCBI chr20:49,245,900...49,278,057
Ensembl chr20:49,237,946...49,278,426 		JBrowse link
developmental and epileptic encephalopathy 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 27 | ClinVar Annotator: match by term: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16537520 PMID:17576681 PMID:22833210 PMID:23033978 More... NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002 		JBrowse link
G MBD5 methyl-CpG binding domain protein 5 IAGP ClinVar Annotator: match by term: developmental delay with intractable seizures ClinVar PMID:26467025 PMID:28492532 NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971 		JBrowse link
developmental and epileptic encephalopathy 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLEC3A C-type lectin domain family 3 member A IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:78,022,548...78,032,101
Ensembl chr16:78,022,515...78,066,761 		JBrowse link
G LOC110120570 VISTA enhancer hs12 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar PMID:25411445 PMID:25741868 PMID:30356099 NCBI chr16:78,476,711...78,478,047 JBrowse link
G LOC112486209 Sharpr-MPRA regulatory region 4302 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar PMID:25411445 PMID:25741868 PMID:30356099 NCBI chr16:78,428,252...78,428,546 JBrowse link
G LOC121587562 Sharpr-MPRA regulatory region 1447 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:78,200,092...78,200,386 JBrowse link
G LOC125177355 Sharpr-MPRA regulatory region 10407 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar PMID:25411445 NCBI chr16:78,240,572...78,240,866 JBrowse link
G LOC126862410 MED14-independent group 3 enhancer GRCh37_chr16:78025071-78026270 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:77,991,174...77,992,399 JBrowse link
G LOC126862411 MED14-independent group 3 enhancer GRCh37_chr16:78029289-78030488 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:77,995,392...77,996,591 JBrowse link
G LOC130059456 ATAC-STARR-seq lymphoblastoid active region 11152 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:77,963,373...77,963,452 JBrowse link
G LOC130059457 ATAC-STARR-seq lymphoblastoid active region 11153 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:77,963,693...77,963,752 JBrowse link
G LOC130059458 ATAC-STARR-seq lymphoblastoid active region 11154 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:77,963,853...77,963,922 JBrowse link
G LOC130059459 ATAC-STARR-seq lymphoblastoid silent region 7735 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:78,003,031...78,003,230 JBrowse link
G LOC132090417 Neanderthal introgressed variant-containing enhancer experimental_45464 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:77,956,719...77,956,888 JBrowse link
G LOC132090418 Neanderthal introgressed variant-containing enhancer experimental_45488 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:77,986,222...77,986,391 JBrowse link
G LOC132090419 Neanderthal introgressed variant-containing enhancer experimental_45524 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:77,997,098...77,997,267 JBrowse link
G LOC132090420 Neanderthal introgressed variant-containing enhancer experimental_45539 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:77,997,924...77,998,093 JBrowse link
G LOC132090421 Neanderthal introgressed variant-containing enhancer experimental_45548 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:78,020,183...78,020,352 JBrowse link
G LOC132090422 Neanderthal introgressed variant-containing enhancer experimental_45593 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:78,033,210...78,033,379 JBrowse link
G LOC132090423 Neanderthal introgressed variant-containing enhancer experimental_45596 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:78,034,619...78,034,788 JBrowse link
G LOC132090424 Neanderthal introgressed variant-containing enhancer experimental_45605 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:78,036,018...78,036,187 JBrowse link
G LOC132090425 Neanderthal introgressed variant-containing enhancer experimental_45663 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:78,053,114...78,053,283 JBrowse link
G LOC132090426 Neanderthal introgressed variant-containing enhancer experimental_45737 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:78,063,691...78,063,860 JBrowse link
G LOC132090427 Neanderthal introgressed variant-containing enhancer experimental_45838 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:78,066,869...78,067,038 JBrowse link
G LOC132090428 Neanderthal introgressed variant-containing enhancer experimental_45974 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar PMID:25411445 NCBI chr16:78,134,868...78,135,037 JBrowse link
G LOC132090429 Neanderthal introgressed variant-containing enhancer experimental_45980 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar PMID:25411445 NCBI chr16:78,138,511...78,138,680 JBrowse link
G LOC132090430 Neanderthal introgressed variant-containing enhancer experimental_46047 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar PMID:25741868 NCBI chr16:78,165,689...78,165,858 JBrowse link
G LOC132090431 Neanderthal introgressed variant-containing enhancer experimental_46108 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar PMID:25411445 NCBI chr16:78,287,868...78,288,037 JBrowse link
G LOC132090432 Neanderthal introgressed variant-containing enhancer experimental_46172 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar PMID:25411445 PMID:25741868 PMID:30356099 NCBI chr16:78,322,474...78,322,643 JBrowse link
G LOC132090433 Neanderthal introgressed variant-containing enhancer experimental_46191 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar PMID:25411445 PMID:25741868 PMID:30356099 NCBI chr16:78,327,206...78,327,375 JBrowse link
G LOC132090434 Neanderthal introgressed variant-containing enhancer experimental_46196 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar PMID:25411445 PMID:25741868 PMID:30356099 NCBI chr16:78,327,531...78,327,700 JBrowse link
G LOC132090435 Neanderthal introgressed variant-containing enhancer experimental_46257 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar PMID:25411445 PMID:25741868 PMID:30356099 NCBI chr16:78,427,395...78,427,564 JBrowse link
G LOC132090888 Neanderthal introgressed variant-containing enhancer experimental_45804 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:78,065,424...78,065,593 JBrowse link
G MAF MAF bZIP transcription factor IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28		 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G NCF2 neutrophil cytosolic factor 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar PMID:16937026 PMID:23821607 PMID:25741868 PMID:28492532 NCBI chr 1:183,555,562...183,601,849
Ensembl chr 1:183,554,461...183,590,905 		JBrowse link
G VAT1L vesicle amine transport 1 like IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar NCBI chr16:77,788,564...77,980,107
Ensembl chr16:77,788,564...77,980,107 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 28
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11572989 PMID:16199547 PMID:17576681 PMID:20480411 More... NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G WWOX-AS1 WWOX antisense RNA 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 28 ClinVar PMID:25411445 NCBI chr16:78,234,662...78,241,751
Ensembl chr16:78,234,652...78,241,989 		JBrowse link
developmental and epileptic encephalopathy 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 29
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21494555 PMID:25741868 PMID:25817015 PMID:28492532 PMID:28493438 More... NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
developmental and epileptic encephalopathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A22 solute carrier family 25 member 22 IAGP
EXP		 ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 3
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15592994 PMID:18414213 PMID:19780765 PMID:24596948 PMID:25033742 More... NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281 		JBrowse link
developmental and epileptic encephalopathy 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCG1 ATP binding cassette subfamily G member 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,199,689...42,297,244
Ensembl chr21:42,199,689...42,297,244 		JBrowse link
G ADARB1 adenosine deaminase RNA specific B1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560 		JBrowse link
G AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:25839329 PMID:28492532 NCBI chr21:43,865,223...43,987,592
Ensembl chr21:43,865,223...43,987,592 		JBrowse link
G AIRE autoimmune regulator IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648 		JBrowse link
G C21orf58 chromosome 21 open reading frame 58 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:46,300,430...46,323,870
Ensembl chr21:46,300,181...46,323,875 		JBrowse link
G C2CD2 C2 calcium dependent domain containing 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:41,885,112...41,954,018
Ensembl chr21:41,885,112...41,954,018 		JBrowse link
G CBS cystathionine beta-synthase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G CRYAA crystallin alpha A IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:43,169,008...43,172,810
Ensembl chr21:43,169,008...43,172,805 		JBrowse link
G CSTB cystatin B IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:25839329 PMID:28492532 NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330 		JBrowse link
G DNMT3L DNA methyltransferase 3 like IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,246,339...44,261,897
Ensembl chr21:44,246,339...44,262,216 		JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:46,136,262...46,155,579
Ensembl chr21:46,136,160...46,155,579 		JBrowse link
G GATD3 glutamine amidotransferase class 1 domain containing 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:25839329 PMID:28492532 NCBI chr21:44,133,683...44,145,711
Ensembl chr21:44,133,610...44,210,114 		JBrowse link
G HSF2BP heat shock transcription factor 2 binding protein IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:25839329 PMID:28492532 NCBI chr21:43,444,972...43,659,488
Ensembl chr21:43,529,186...43,659,488 		JBrowse link
G ICOSLG inducible T cell costimulator ligand IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,216,981...44,240,943
Ensembl chr21:44,215,382...44,241,446 		JBrowse link
G ITGB2 integrin subunit beta 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989 		JBrowse link
G KRTAP10-1 keratin associated protein 10-1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,538,981...44,540,195
Ensembl chr21:44,538,981...44,540,195 		JBrowse link
G KRTAP10-10 keratin associated protein 10-10 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,637,356...44,638,455
Ensembl chr21:44,637,356...44,638,455 		JBrowse link
G KRTAP10-11 keratin associated protein 10-11 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,646,414...44,647,650
Ensembl chr21:44,646,414...44,647,650 		JBrowse link
G KRTAP10-12 keratin associated protein 10-12 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,697,172...44,698,044
Ensembl chr21:44,697,172...44,698,044 		JBrowse link
G KRTAP10-2 keratin associated protein 10-2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,550,357...44,551,505
Ensembl chr21:44,550,357...44,551,505 		JBrowse link
G KRTAP10-3 keratin associated protein 10-3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,557,790...44,558,795
Ensembl chr21:44,557,790...44,558,795 		JBrowse link
G KRTAP10-4 keratin associated protein 10-4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,573,729...44,575,371
Ensembl chr21:44,573,729...44,575,371 		JBrowse link
G KRTAP10-5 keratin associated protein 10-5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,579,455...44,580,604
Ensembl chr21:44,579,455...44,580,604 		JBrowse link
G KRTAP10-6 keratin associated protein 10-6 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,591,268...44,592,505
Ensembl chr21:44,591,268...44,592,505 		JBrowse link
G KRTAP10-7 keratin associated protein 10-7 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,600,597...44,602,174
Ensembl chr21:44,600,597...44,602,174 		JBrowse link
G KRTAP10-8 keratin associated protein 10-8 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,612,079...44,612,954
Ensembl chr21:44,612,079...44,612,954 		JBrowse link
G KRTAP10-9 keratin associated protein 10-9 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,627,093...44,628,378
Ensembl chr21:44,627,093...44,628,378 		JBrowse link
G KRTAP12-1 keratin associated protein 12-1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,681,576...44,682,163
Ensembl chr21:44,681,576...44,682,163 		JBrowse link
G KRTAP12-2 keratin associated protein 12-2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,666,189...44,666,927
Ensembl chr21:44,666,189...44,666,927 		JBrowse link
G KRTAP12-3 keratin associated protein 12-3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,657,932...44,658,341
Ensembl chr21:44,657,932...44,658,341 		JBrowse link
G KRTAP12-4 keratin associated protein 12-4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,654,213...44,654,659
Ensembl chr21:44,654,213...44,654,659 		JBrowse link
G LINC00163 long intergenic non-protein coding RNA 163 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,989,864...44,994,086
Ensembl chr21:44,989,864...44,994,086 		JBrowse link
G LINC00315 long intergenic non-protein coding RNA 315 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 Ensembl chr21:45,300,245...45,305,257 JBrowse link
G LINC00334 long intergenic non-protein coding RNA 334 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:45,234,340...45,258,730
Ensembl chr21:45,234,308...45,264,548 		JBrowse link
G LRRC3 leucine rich repeat containing 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,455,510...44,462,196
Ensembl chr21:44,455,510...44,462,196 		JBrowse link
G LSS lanosterol synthase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:46,188,446...46,228,774
Ensembl chr21:46,188,141...46,228,824 		JBrowse link
G MCM3AP minichromosome maintenance complex component 3 associated protein IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:46,235,133...46,286,265
Ensembl chr21:46,235,133...46,286,297 		JBrowse link
G NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,893,309...42,913,299
Ensembl chr21:42,879,644...42,913,304 		JBrowse link
G PCBP3 poly(rC) binding protein 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:45,643,725...45,942,450
Ensembl chr21:45,643,694...45,942,454 		JBrowse link
G PCNT pericentrin IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PDE9A phosphodiesterase 9A IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,653,621...42,775,509
Ensembl chr21:42,653,621...42,775,509 		JBrowse link
G PDXK pyridoxal kinase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:25839329 PMID:28492532 NCBI chr21:43,719,129...43,762,299
Ensembl chr21:43,719,094...43,762,307 		JBrowse link
G PFKL phosphofructokinase, liver type IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,300,053...44,327,373
Ensembl chr21:44,300,051...44,327,376 		JBrowse link
G PKNOX1 PBX/knotted 1 homeobox 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,974,562...43,033,931
Ensembl chr21:42,974,510...43,033,931 		JBrowse link
G POFUT2 protein O-fucosyltransferase 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:45,263,935...45,287,895
Ensembl chr21:45,263,928...45,287,898 		JBrowse link
G PRDM15 PR/SET domain 15 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:41,798,225...41,879,344
Ensembl chr21:41,798,225...41,879,482 		JBrowse link
G PTTG1IP PTTG1 interacting protein IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,849,598...44,873,690
Ensembl chr21:44,849,585...44,873,903 		JBrowse link
G PWP2 PWP2 small subunit processome component IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:25839329 PMID:28492532 NCBI chr21:44,107,399...44,131,181
Ensembl chr21:44,107,373...44,131,181 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		JBrowse link
G RRP1 ribosomal RNA processing 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:25839329 PMID:28492532 NCBI chr21:43,789,577...43,805,293
Ensembl chr21:43,789,513...43,805,293 		JBrowse link
G RRP1B ribosomal RNA processing 1B IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:25839329 PMID:28492532 NCBI chr21:43,659,560...43,696,079
Ensembl chr21:43,659,560...43,696,079 		JBrowse link
G RSPH1 radial spoke head component 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,246 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:23935176 PMID:25741868 PMID:26648591 PMID:26993267 PMID:27867041 More... NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SIK1 salt inducible kinase 1 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8596935 PMID:9536098 PMID:15511237 PMID:16199547 PMID:17576681 More... NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365 		JBrowse link
G SLC37A1 solute carrier family 37 member 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,499,622...42,581,426
Ensembl chr21:42,496,008...42,581,440 		JBrowse link
G SLX9 SLX9 ribosome biogenesis factor IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,939,697...44,976,973
Ensembl chr21:44,940,025...44,976,973 		JBrowse link
G SPATC1L spermatogenesis and centriole associated 1 like IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:46,161,160...46,184,459
Ensembl chr21:46,161,148...46,184,476 		JBrowse link
G SUMO3 small ubiquitin like modifier 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,805,617...44,818,062
Ensembl chr21:44,805,617...44,818,779 		JBrowse link
G TFF1 trefoil factor 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,362,282...42,366,535
Ensembl chr21:42,362,282...42,366,535 		JBrowse link
G TFF2 trefoil factor 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,346,357...42,350,994
Ensembl chr21:42,346,357...42,350,997 		JBrowse link
G TFF3 trefoil factor 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,311,667...42,315,409
Ensembl chr21:42,311,667...42,315,409 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,371,890...42,396,052
Ensembl chr21:42,371,887...42,396,091 		JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:25839329 PMID:28492532 NCBI chr21:44,012,309...44,106,552
Ensembl chr21:44,012,309...44,106,552 		JBrowse link
G TRPM2 transient receptor potential cation channel subfamily M member 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,353,621...44,442,644
Ensembl chr21:44,350,163...44,443,081 		JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,497,893...44,711,572
Ensembl chr21:44,497,893...44,711,572 		JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:43,092,956...43,107,578
Ensembl chr21:43,092,956...43,107,570 		JBrowse link
G UBASH3A ubiquitin associated and SH3 domain containing A IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,403,902...42,447,684
Ensembl chr21:42,403,447...42,447,684 		JBrowse link
G UBE2G2 ubiquitin conjugating enzyme E2 G2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:44,768,580...44,801,820
Ensembl chr21:44,768,580...44,801,826 		JBrowse link
G UMODL1 uromodulin like 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,062,877...42,142,996
Ensembl chr21:42,062,959...42,143,453 		JBrowse link
G WDR4 WD repeat domain 4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568 		JBrowse link
G YBEY ybeY metalloendoribonuclease IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:46,286,342...46,313,225
Ensembl chr21:46,286,342...46,297,751 		JBrowse link
G ZBTB21 zinc finger and BTB domain containing 21 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 ClinVar PMID:8596935 PMID:28492532 NCBI chr21:41,986,831...42,010,360
Ensembl chr21:41,986,831...42,010,387 		JBrowse link
developmental and epileptic encephalopathy 31A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK1 adenylate kinase 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,866,480...127,879,621
Ensembl chr 9:127,866,486...127,877,675 		JBrowse link
G ANGPTL2 angiopoietin like 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,087,348...127,122,635
Ensembl chr 9:127,087,348...127,122,635 		JBrowse link
G BBLN bublin coiled coil protein IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:128,160,265...128,163,924
Ensembl chr 9:128,160,265...128,163,924 		JBrowse link
G CDK9 cyclin dependent kinase 9 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,786,034...127,790,792
Ensembl chr 9:127,785,679...127,790,792 		JBrowse link
G CFAP157 cilia and flagella associated protein 157 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,706,988...127,716,002
Ensembl chr 9:127,706,988...127,716,002 		JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31		 ClinVar PMID:8335685 PMID:10608808 PMID:11031245 PMID:11553700 PMID:18469812 More... NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383 		JBrowse link
G DNM1 dynamin 1 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31		 ClinVar
CTD
OMIM		 PMID:8335685 PMID:9536098 PMID:10608808 PMID:11031245 PMID:11553700 More... NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854 		JBrowse link
G EEIG1 estrogen-induced osteoclastogenesis regulator 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,940,582...127,980,989
Ensembl chr 9:127,940,582...127,980,989 		JBrowse link
G ENG endoglin IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,815,013...127,854,658 		JBrowse link
G FPGS folylpolyglutamate synthase IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,802,858...127,814,506
Ensembl chr 9:127,794,597...127,814,327 		JBrowse link
G GARNL3 GTPase activating Rap/RanGAP domain like 3 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,224,613...127,393,660
Ensembl chr 9:127,224,265...127,393,660 		JBrowse link
G LCN2 lipocalin 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:128,149,453...128,153,453
Ensembl chr 9:128,149,071...128,153,453 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LOC113839516 H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:130980103-130981059 and GRCh37_chr9:130981060-130982015 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20428113 PMID:25262651 More... NCBI chr 9:128,217,824...128,219,736 JBrowse link
G LOC130002697 ATAC-STARR-seq lymphoblastoid active region 29075 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 ClinVar PMID:28492532 NCBI chr 9:128,249,987...128,250,126 JBrowse link
G LOC130002698 ATAC-STARR-seq lymphoblastoid silent region 20332 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 ClinVar PMID:25741868 PMID:28492532 PMID:34172529 NCBI chr 9:128,250,297...128,250,796 JBrowse link
G LOC130002699 ATAC-STARR-seq lymphoblastoid silent region 20333 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 ClinVar PMID:25741868 PMID:28492532 PMID:34172529 NCBI chr 9:128,250,807...128,250,896 JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,451,486...127,503,501
Ensembl chr 9:127,451,489...127,503,499 		JBrowse link
G MIR199B microRNA 199b IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31		 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:128,244,721...128,244,830
Ensembl chr 9:128,244,721...128,244,830 		JBrowse link
G MIR2861 microRNA 2861 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,785,918...127,786,007
Ensembl chr 9:127,785,918...127,786,007 		JBrowse link
G MIR3154 microRNA 3154 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 ClinVar PMID:28492532 NCBI chr 9:128,244,947...128,245,030
Ensembl chr 9:128,244,947...128,245,030 		JBrowse link
G NAIF1 nuclear apoptosis inducing factor 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:128,061,233...128,067,320
Ensembl chr 9:128,061,233...128,068,206 		JBrowse link
G NIBAN2 niban apoptosis regulator 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,505,343...127,579,031
Ensembl chr 9:127,505,339...127,578,989 		JBrowse link
G PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,920,881...127,930,777
Ensembl chr 9:127,920,881...127,930,785 		JBrowse link
G PTGES2 prostaglandin E synthase 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:128,120,693...128,128,440
Ensembl chr 9:128,120,693...128,128,462 		JBrowse link
G PTRH1 peptidyl-tRNA hydrolase 1 homolog IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,694,150...127,715,676
Ensembl chr 9:127,690,348...127,724,873 		JBrowse link
G RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:126,914,782...127,223,166
Ensembl chr 9:126,914,774...127,223,166 		JBrowse link
G RPL12 ribosomal protein L12 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,447,674...127,451,406
Ensembl chr 9:127,447,674...127,451,406 		JBrowse link
G SH2D3C SH2 domain containing 3C IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,738,317...127,778,666
Ensembl chr 9:127,738,317...127,778,710 		JBrowse link
G SLC25A25 solute carrier family 25 member 25 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:128,068,232...128,109,245
Ensembl chr 9:128,068,201...128,109,245 		JBrowse link
G SLC2A8 solute carrier family 2 member 8 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,397,169...127,407,898
Ensembl chr 9:127,397,138...127,408,424 		JBrowse link
G ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,907,886...127,917,041
Ensembl chr 9:127,907,886...127,917,041 		JBrowse link
G ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,885,321...127,906,616
Ensembl chr 9:127,885,321...127,905,408 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
G TOR2A torsin family 2 member A IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,731,524...127,735,294
Ensembl chr 9:127,731,524...127,735,313 		JBrowse link
G TTC16 tetratricopeptide repeat domain 16 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,716,079...127,731,590
Ensembl chr 9:127,716,079...127,731,590 		JBrowse link
G ZBTB34 zinc finger and BTB domain containing 34 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:126,860,639...126,885,878
Ensembl chr 9:126,860,639...126,885,878 		JBrowse link
G ZBTB43 zinc finger and BTB domain containing 43 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:126,804,072...126,838,210
Ensembl chr 9:126,805,006...126,838,210 		JBrowse link
G ZNF79 zinc finger protein 79 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 9:127,424,382...127,445,372
Ensembl chr 9:127,424,374...127,445,372 		JBrowse link
developmental and epileptic encephalopathy 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX3 ALX homeobox 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 ClinVar PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G KCNA10 potassium voltage-gated channel subfamily A member 10 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 ClinVar PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230 NCBI chr 1:110,517,217...110,519,175
Ensembl chr 1:110,517,217...110,519,175 		JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 | ClinVar Annotator: match by term: KCNA2-related condition
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 | ClinVar Annotator: match by term: KCNA2-Related Disorder
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:17634333 More... NCBI chr 1:110,593,580...110,631,440
Ensembl chr 1:110,519,837...110,631,474 		JBrowse link
G KCNC4 potassium voltage-gated channel subfamily C member 4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 ClinVar PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230 NCBI chr 1:110,210,314...110,284,080
Ensembl chr 1:110,210,314...110,283,100 		JBrowse link
G LAMTOR5 late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 ClinVar PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230 NCBI chr 1:110,401,253...110,407,924
Ensembl chr 1:110,401,249...110,407,942 		JBrowse link
G PROK1 prokineticin 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 ClinVar PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230 NCBI chr 1:110,451,149...110,457,358
Ensembl chr 1:110,451,149...110,457,358 		JBrowse link
G RBM15 RNA binding motif protein 15 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 ClinVar PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230 NCBI chr 1:110,339,377...110,346,677
Ensembl chr 1:110,338,506...110,346,681 		JBrowse link
G SLC16A4 solute carrier family 16 member 4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 ClinVar PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230 NCBI chr 1:110,362,857...110,391,026
Ensembl chr 1:110,362,851...110,391,082 		JBrowse link
G SLC6A17 solute carrier family 6 member 17 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 ClinVar PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230 NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202 		JBrowse link
G UBL4B ubiquitin like 4B IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 ClinVar PMID:17634333 PMID:25950944 PMID:27457812 PMID:28492532 PMID:33802230 NCBI chr 1:110,112,443...110,113,947
Ensembl chr 1:110,112,443...110,113,947 		JBrowse link
developmental and epileptic encephalopathy 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD16B abhydrolase domain containing 16B IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,861,498...63,862,988
Ensembl chr20:63,861,498...63,862,988 		JBrowse link
G ADRM1 ADRM1 26S proteasome ubiquitin receptor IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,302,896...62,308,862
Ensembl chr20:62,302,093...62,308,862 		JBrowse link
G ARFGAP1 ADP ribosylation factor GTPase activating protein 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33		 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,272,813...63,289,790
Ensembl chr20:63,272,785...63,289,790 		JBrowse link
G ARFRP1 ADP ribosylation factor related protein 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,698,647...63,707,976
Ensembl chr20:63,698,642...63,708,025 		JBrowse link
G BHLHE23 basic helix-loop-helix family member e23 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33		 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,005,927...63,006,964
Ensembl chr20:63,005,927...63,007,035 		JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33		 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,235,905...63,240,495
Ensembl chr20:63,235,883...63,240,495 		JBrowse link
G CABLES2 Cdk5 and Abl enzyme substrate 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,388,634...62,407,285
Ensembl chr20:62,388,634...62,407,285 		JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33		 ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr20:63,343,223...63,361,349
Ensembl chr20:63,343,223...63,378,401 		JBrowse link
G COL20A1 collagen type XX alpha 1 chain IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33		 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,293,186...63,334,806
Ensembl chr20:63,293,186...63,334,851 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33		 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G DIDO1 death inducer-obliterator 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33		 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,877,743...62,937,904
Ensembl chr20:62,877,738...62,937,952 		JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,895,126...63,936,011
Ensembl chr20:63,895,126...63,936,031 		JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3066688 PMID:9536098 PMID:14534157 PMID:16199547 PMID:17290276 More... NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239 		JBrowse link
G FNDC11 fibronectin type III domain containing 11 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,553,020...63,556,708
Ensembl chr20:63,547,891...63,556,695 		JBrowse link
G GATA5 GATA binding protein 5 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,463,497...62,475,995
Ensembl chr20:62,463,497...62,475,995 		JBrowse link
G GID8 GID complex subunit 8 homolog IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33		 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,938,147...62,948,475
Ensembl chr20:62,938,147...62,948,475 		JBrowse link
G GMEB2 glucocorticoid modulatory element binding protein 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,587,605...63,627,101
Ensembl chr20:63,587,602...63,627,101 		JBrowse link
G HAR1A highly accelerated region 1A IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33		 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,101,292...63,104,386
Ensembl chr20:63,102,205...63,104,386 		JBrowse link
G HAR1B highly accelerated region 1B IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33		 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,095,493...63,102,319
Ensembl chr20:63,090,806...63,102,631 		JBrowse link
G HELZ2 helicase with zinc finger 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,558,086...63,574,239
Ensembl chr20:63,558,086...63,574,239 		JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33		 ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
G KCNQ2-AS1 KCNQ2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 ClinVar PMID:28492532 NCBI chr20:63,448,441...63,449,390 JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G LIME1 Lck interacting transmembrane adaptor 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,735,701...63,739,103
Ensembl chr20:63,736,283...63,739,103 		JBrowse link
G LOC129391211 MPRA-validated peak4316 silencer IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 ClinVar PMID:28492532 NCBI chr20:63,461,443...63,461,643 JBrowse link
G LOC129391212 MPRA-validated peak4318 silencer IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 ClinVar PMID:28492532 NCBI chr20:63,475,487...63,475,687 JBrowse link
G LOC132090595 Neanderthal introgressed variant-containing enhancer experimental_60987 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33		 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:32725632 NCBI chr20:63,494,861...63,495,030 JBrowse link
G MIR1-1 microRNA 1-1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,554,306...62,554,376
Ensembl chr20:62,554,306...62,554,376 		JBrowse link
G MIR1-1HG MIR1-1 host gene IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,550,453...62,570,764
Ensembl chr20:62,550,447...62,570,767 		JBrowse link
G MIR133A2 microRNA 133a-2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,564,912...62,565,013
Ensembl chr20:62,564,912...62,565,013 		JBrowse link
G MRGBP MRG domain binding protein IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,796,473...62,801,729
Ensembl chr20:62,796,473...62,801,729 		JBrowse link
G NKAIN4 sodium/potassium transporting ATPase interacting 4 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33		 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,240,784...63,254,921
Ensembl chr20:63,240,784...63,272,694 		JBrowse link
G NTSR1 neurotensin receptor 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,708,836...62,762,771
Ensembl chr20:62,708,836...62,762,771 		JBrowse link
G OGFR opioid growth factor receptor IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,804,835...62,814,000
Ensembl chr20:62,804,835...62,814,000 		JBrowse link
G OSBPL2 oxysterol binding protein like 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,238,521...62,296,183
Ensembl chr20:62,231,922...62,296,213 		JBrowse link
G PPDPF pancreatic progenitor cell differentiation and proliferation factor IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33		 ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr20:63,520,741...63,522,206
Ensembl chr20:63,520,765...63,522,206 		JBrowse link
G PRPF6 pre-mRNA processing factor 6 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,981,132...64,033,100
Ensembl chr20:63,981,132...64,033,100 		JBrowse link
G PTK6 protein tyrosine kinase 6 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,528,001...63,537,376
Ensembl chr20:63,528,001...63,537,376 		JBrowse link
G RBBP8NL RBBP8 N-terminal like IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,410,237...62,427,539
Ensembl chr20:62,410,237...62,427,539 		JBrowse link
G RPS21 ribosomal protein S21 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,387,103...62,388,520
Ensembl chr20:62,387,103...62,388,520 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G SAMD10 sterile alpha motif domain containing 10 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,974,116...63,980,144
Ensembl chr20:63,974,116...63,980,008 		JBrowse link
G SLC17A9 solute carrier family 17 member 9 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33		 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,952,709...62,969,585
Ensembl chr20:62,952,707...62,969,585 		JBrowse link
G SLC2A4RG SLC2A4 regulator IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,739,776...63,744,050
Ensembl chr20:63,739,776...63,744,050 		JBrowse link
G SLCO4A1 solute carrier organic anion transporter family member 4A1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,642,503...62,690,740
Ensembl chr20:62,642,503...62,685,785 		JBrowse link
G SOX18 SRY-box transcription factor 18 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:64,047,582...64,049,639
Ensembl chr20:64,047,582...64,049,639 		JBrowse link
G SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,538,489...63,547,749
Ensembl chr20:63,538,489...63,547,749 		JBrowse link
G STMN3 stathmin 3 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,639,712...63,653,424
Ensembl chr20:63,639,705...63,657,682 		JBrowse link
G TCFL5 transcription factor like 5 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33		 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:62,841,005...62,861,822
Ensembl chr20:62,841,005...62,861,822 		JBrowse link
G TNFRSF6B TNF receptor superfamily member 6b IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,696,652...63,698,684
Ensembl chr20:63,696,652...63,698,684 		JBrowse link
G TPD52L2 TPD52 like 2 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,865,270...63,891,538
Ensembl chr20:63,865,228...63,891,545 		JBrowse link
G UCKL1 uridine-cytidine kinase 1 like 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,939,829...63,956,416
Ensembl chr20:63,939,829...63,956,416 		JBrowse link
G YTHDF1 YTH N6-methyladenosine RNA binding protein F1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 33		 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,195,429...63,216,131
Ensembl chr20:63,195,429...63,216,139 		JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,743,670...63,833,895
Ensembl chr20:63,743,668...63,832,038 		JBrowse link
G ZGPAT zinc finger CCCH-type and G-patch domain containing IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,707,442...63,736,142
Ensembl chr20:63,707,465...63,736,142 		JBrowse link
G ZNF512B zinc finger protein 512B IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr20:63,956,704...63,969,930
Ensembl chr20:63,956,704...63,969,930 		JBrowse link
developmental and epileptic encephalopathy 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC113960611 Sharpr-MPRA regulatory region 3425 IAGP ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 34		 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr20:46,057,330...46,057,624 JBrowse link
G LOC130065980 ATAC-STARR-seq lymphoblastoid silent region 12971 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 34 ClinVar PMID:25741868 NCBI chr20:46,021,764...46,022,123 JBrowse link
G SLC12A5 solute carrier family 12 member 5 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 34
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 34 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24668262 PMID:24928908 More... NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150 		JBrowse link
G SLC12A5-AS1 SLC12A5 and MMP9 antisense RNA 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 34 ClinVar PMID:25741868 NCBI chr20:46,013,502...46,022,073
Ensembl chr20:46,013,500...46,022,073 		JBrowse link
developmental and epileptic encephalopathy 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITPA inosine triphosphatase IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 35
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 35
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:12384777 PMID:16199547 PMID:20173735 PMID:20547162 PMID:21274861 More... NCBI chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870 		JBrowse link
developmental and epileptic encephalopathy 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 36
ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Is		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22492991 PMID:23033978 More... NCBI chr  X:111,681,170...111,760,649
Ensembl chr  X:111,665,811...111,760,649 		JBrowse link
G CAPN6 calpain 6 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 ClinVar PMID:28492532 NCBI chr  X:111,245,099...111,270,483
Ensembl chr  X:111,245,099...111,270,483 		JBrowse link
G CHRDL1 chordin like 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 ClinVar PMID:28492532 NCBI chr  X:110,673,856...110,795,817
Ensembl chr  X:110,673,856...110,795,819 		JBrowse link
G DCX doublecortin IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 ClinVar PMID:28492532 NCBI chr  X:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
G PAK3 p21 (RAC1) activated kinase 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 ClinVar PMID:28492532 NCBI chr  X:110,944,397...111,227,361
Ensembl chr  X:110,944,285...111,227,361 		JBrowse link
developmental and epileptic encephalopathy 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABITRAM actin binding transcription modulator IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 ClinVar PMID:28492532 NCBI chr 9:108,934,400...108,950,744
Ensembl chr 9:108,934,400...108,950,744 		JBrowse link
G CTNNAL1 catenin alpha like 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 ClinVar PMID:28492532 NCBI chr 9:108,942,577...109,013,499
Ensembl chr 9:108,942,569...109,013,522 		JBrowse link
G ELP1 elongator acetyltransferase complex subunit 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 ClinVar PMID:28492532 NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328 		JBrowse link
G FRRS1L ferric chelate reductase 1 like IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 37
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr 9:109,130,293...109,167,249
Ensembl chr 9:109,130,293...109,167,249 		JBrowse link
G MIR32 microRNA 32 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 ClinVar PMID:28492532 NCBI chr 9:109,046,229...109,046,298
Ensembl chr 9:109,046,229...109,046,298 		JBrowse link
G TMEM245 transmembrane protein 245 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 37 ClinVar PMID:28492532 NCBI chr 9:109,015,135...109,119,947
Ensembl chr 9:109,015,135...109,119,947 		JBrowse link
developmental and epileptic encephalopathy 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARV1 ARV1 homolog, fatty acid homeostasis modulator IAGP
EXP		 ClinVar Annotator: match by term: ARV1-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 38
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25558065 PMID:25741868 PMID:27270415 PMID:28492532 PMID:32165008 NCBI chr 1:230,979,094...231,000,733
Ensembl chr 1:230,978,981...231,000,733 		JBrowse link
G LOC129932761 ATAC-STARR-seq lymphoblastoid active region 2721 IAGP ClinVar Annotator: match by term: ARV1-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 38 ClinVar PMID:25741868 PMID:28492532
developmental and epileptic encephalopathy 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A12 solute carrier family 25 member 12 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 39
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 39 | ClinVar Annotator: match by term: Hypomyelination, global cerebral
OMIM:612949
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:19641205 PMID:24515575 PMID:25741868 More... NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859 		JBrowse link
developmental and epileptic encephalopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKL5 cyclin dependent kinase like 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 ClinVar PMID:25741868 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G LOC130002651 ATAC-STARR-seq lymphoblastoid silent region 20307 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 ClinVar PMID:25741868 NCBI chr 9:127,611,998...127,612,587 JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 ClinVar PMID:25741868 NCBI chr 9:127,451,486...127,503,501
Ensembl chr 9:127,451,489...127,503,499 		JBrowse link
G MIR3911 microRNA 3911 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 ClinVar PMID:25741868 NCBI chr 9:127,690,687...127,690,795
Ensembl chr 9:127,690,687...127,690,795 		JBrowse link
G NIBAN2 niban apoptosis regulator 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4 ClinVar PMID:25741868 NCBI chr 9:127,505,343...127,579,031
Ensembl chr 9:127,505,339...127,578,989 		JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP
EXP		 DNA:deletions, nonsense mutation, splice-site mutations:exon, intron:multiple
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: STXBP1-associated neurodevelopmental disorder
DNA:deletion, missense mutations:exon:multiple		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18469812 More... RGD:11068998, RGD:12903960 NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027 		JBrowse link
developmental and epileptic encephalopathy 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GUF1 GTP binding elongation factor GUF1 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 40
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 40		 ClinVar
CTD
OMIM		 PMID:25741868 PMID:26486472 PMID:28492532 PMID:30945278 NCBI chr 4:44,678,420...44,700,928
Ensembl chr 4:44,678,420...44,700,928 		JBrowse link
developmental and epileptic encephalopathy 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC1A2 solute carrier family 1 member 2 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 41
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 41 | ClinVar Annotator: match by term: SLC1A2-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:23107647 PMID:23934111 PMID:24214974 PMID:25741868 PMID:27476654 More... NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063 		JBrowse link
developmental and epileptic encephalopathy 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8898206 PMID:9329229 PMID:9488686 PMID:9536098 PMID:9915947 More... NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025 		JBrowse link
G LOC126862864 MED14-independent group 3 enhancer GRCh37_chr19:13371552-13372751 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42		 ClinVar PMID:22249839 PMID:25741868 PMID:26467025 PMID:27959697 PMID:28007337 More... NCBI chr19:13,260,738...13,261,937 JBrowse link
G LOC126862865 CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:13385818-13387017 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:13,275,004...13,276,203 JBrowse link
G LOC126862866 MED14-independent group 3 enhancer GRCh37_chr19:13445719-13446918 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42		 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29915382 NCBI chr19:13,334,905...13,336,104 JBrowse link
G LOC130063717 ATAC-STARR-seq lymphoblastoid silent region 10203 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42		 ClinVar PMID:25741868 PMID:26423924 PMID:28492532 NCBI chr19:13,208,640...13,208,829 JBrowse link
developmental and epileptic encephalopathy 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 43
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 43 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 43
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:11742254 PMID:12189488 PMID:18514161 PMID:19935738 PMID:20550555 More... NCBI chr15:26,543,552...26,773,763
Ensembl chr15:26,543,552...26,939,539 		JBrowse link
developmental and epileptic encephalopathy 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAD11 acyl-CoA dehydrogenase family member 11 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44 ClinVar PMID:25741868 NCBI chr 3:132,558,141...132,659,809
Ensembl chr 3:132,558,138...132,660,082 		JBrowse link
G LOC129937585 ATAC-STARR-seq lymphoblastoid active region 20539 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44 ClinVar PMID:25741868
G NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44 | ClinVar Annotator: match by term: UBA5-related condition		 ClinVar PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 More... NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 44 | ClinVar Annotator: match by term: UBA5-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 More... NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794 		JBrowse link
developmental and epileptic encephalopathy 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRB1 gamma-aminobutyric acid type A receptor subunit beta1 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 45
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 45 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 45
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:23934111 PMID:25741868 PMID:26950270 PMID:27273810 PMID:28492532 More... NCBI chr 4:46,993,647...47,426,447
Ensembl chr 4:46,993,723...47,426,447 		JBrowse link
developmental and epileptic encephalopathy 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRIN2D glutamate ionotropic receptor NMDA type subunit 2D IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 46 | ClinVar Annotator: match by term: GRIN2D-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15970596 PMID:25741868 PMID:27616483 PMID:28492532 PMID:30280376 More... NCBI chr19:48,393,668...48,444,931
Ensembl chr19:48,393,668...48,444,931 		JBrowse link
G LOC130064855 ATAC-STARR-seq lymphoblastoid silent region 10879 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 46 ClinVar PMID:25741868 NCBI chr19:48,398,495...48,398,594 JBrowse link
G LOC130064857 ATAC-STARR-seq lymphoblastoid active region 14894 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 46
ClinVar Annotator: match by term: GRIN2D-related condition		 ClinVar PMID:25741868 PMID:27616483 PMID:28492532 NCBI chr19:48,419,484...48,419,723 JBrowse link
developmental and epileptic encephalopathy 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF12 fibroblast growth factor 12 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 47
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 47 | ClinVar Annotator: match by term: FGF12-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27164707 PMID:27830185 More... NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764 		JBrowse link
developmental and epileptic encephalopathy 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP3B2 adaptor related protein complex 3 subunit beta 2 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 48
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:27431290 More... NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112 		JBrowse link
G CPEB1-AS1 CPEB1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 48 ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:27431290 More... NCBI chr15:82,647,770...82,692,820
Ensembl chr15:82,647,770...82,692,820 		JBrowse link
G LOC130057772 ATAC-STARR-seq lymphoblastoid silent region 6752 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 48 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:82,709,399...82,709,658 JBrowse link
developmental and epileptic encephalopathy 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DENND5A DENN domain containing 5A IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 49
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:16199547 PMID:25741868 PMID:27431290 PMID:27866705 PMID:28492532 NCBI chr11:9,138,825...9,265,350
Ensembl chr11:9,138,825...9,265,959 		JBrowse link
G LOC130005268 ATAC-STARR-seq lymphoblastoid silent region 3122 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 49 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:9,264,792...9,265,151 JBrowse link
developmental and epileptic encephalopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 5
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 5
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 5 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11911890 PMID:17576681 PMID:18414213 PMID:20228407 More... NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		JBrowse link
developmental and epileptic encephalopathy 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 50
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25678555 PMID:25741868 More... NCBI chr 2:27,217,369...27,243,943
Ensembl chr 2:27,217,369...27,243,943 		JBrowse link
G LOC126806171 BRD4-independent group 4 enhancer GRCh37_chr2:27454350-27455549 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 50 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:27,231,482...27,232,681 JBrowse link
G LOC126806172 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27465505-27466704 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 50 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:27,242,637...27,243,836 JBrowse link
developmental and epileptic encephalopathy 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MDH2 malate dehydrogenase 2 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 51 | ClinVar Annotator: match by term: MDH2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27989324 PMID:28492532 More... NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508 		JBrowse link
developmental and epileptic encephalopathy 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 ClinVar PMID:11439943 PMID:18437043 PMID:19344873 PMID:25741868 PMID:28492532 More... NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 52
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 52 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 More... NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449 		JBrowse link
developmental and epileptic encephalopathy 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYNJ1 synaptojanin 1 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 53 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 53
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23804563 PMID:23804577 PMID:24609975 PMID:24816432 PMID:25741868 More... NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
developmental and epileptic encephalopathy 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADSS2 adenylosuccinate synthase 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:244,408,494...244,452,060
Ensembl chr 1:244,408,494...244,451,909 		JBrowse link
G AHCTF1 AT-hook containing transcription factor 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:246,839,098...246,931,948
Ensembl chr 1:246,839,098...246,931,948 		JBrowse link
G AKT3 AKT serine/threonine kinase 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079 		JBrowse link
G CATSPERE catsper channel auxiliary subunit epsilon IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:244,451,242...244,640,504
Ensembl chr 1:244,454,377...244,641,177 		JBrowse link
G CEP170 centrosomal protein 170 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:243,124,428...243,255,785
Ensembl chr 1:243,124,428...243,255,348 		JBrowse link
G CNST consortin, connexin sorting protein IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:246,566,456...246,668,595
Ensembl chr 1:246,566,444...246,668,595 		JBrowse link
G COX20 cytochrome c oxidase assembly factor COX20 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:244,835,306...244,845,063
Ensembl chr 1:244,835,616...244,845,057 		JBrowse link
G DESI2 desumoylating isopeptidase 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:244,653,126...244,709,033
Ensembl chr 1:244,653,103...244,709,033 		JBrowse link
G EFCAB2 EF-hand calcium binding domain 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:244,969,682...245,125,229
Ensembl chr 1:244,969,682...245,127,164 		JBrowse link
G EXO1 exonuclease 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:241,847,986...241,889,939
Ensembl chr 1:241,847,967...241,895,148 		JBrowse link
G GCSAML germinal center associated signaling and motility like IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,507,058...247,577,690
Ensembl chr 1:247,507,058...247,577,690 		JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U IAGP
ISS
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 54
OMIM:617391
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22678713 PMID:23708187 More... NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560 		JBrowse link
G KIF26B kinesin family member 26B IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:245,154,985...245,709,432
Ensembl chr 1:245,154,985...245,709,432 		JBrowse link
G LINC02897 long intergenic non-protein coding RNA 2897 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,110,155...247,112,417
Ensembl chr 1:247,110,160...247,112,417 		JBrowse link
G LOC129932913 ATAC-STARR-seq lymphoblastoid silent region 2020 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:16199547 PMID:22678713 PMID:28283832 PMID:28492532
G LYPD8 LY6/PLAUR domain containing 8 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,739,415...248,755,759
Ensembl chr 1:248,739,415...248,755,759 		JBrowse link
G MAP1LC3C microtubule associated protein 1 light chain 3 gamma IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:241,995,490...242,001,393
Ensembl chr 1:241,995,490...241,999,098 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108 		JBrowse link
G OR11L1 olfactory receptor family 11 subfamily L member 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,840,928...247,841,896
Ensembl chr 1:247,840,928...247,841,896 		JBrowse link
G OR13G1 olfactory receptor family 13 subfamily G member 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,670,812...247,679,739
Ensembl chr 1:247,670,812...247,679,739 		JBrowse link
G OR14A16 olfactory receptor family 14 subfamily A member 16 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,814,660...247,824,119
Ensembl chr 1:247,814,660...247,824,119 		JBrowse link
G OR14C36 olfactory receptor family 14 subfamily C member 36 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,348,775...248,349,713
Ensembl chr 1:248,348,775...248,349,713 		JBrowse link
G OR14I1 olfactory receptor family 14 subfamily I member 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,678,138...248,702,766
Ensembl chr 1:248,681,322...248,682,328 		JBrowse link
G OR1C1 olfactory receptor family 1 subfamily C member 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,754,846...247,760,556
Ensembl chr 1:247,754,846...247,760,556 		JBrowse link
G OR2AK2 olfactory receptor family 2 subfamily AK member 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,965,233...247,966,386
Ensembl chr 1:247,965,233...247,966,386 		JBrowse link
G OR2B11 olfactory receptor family 2 subfamily B member 11 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,449,118...247,458,104
Ensembl chr 1:247,449,118...247,458,105 		JBrowse link
G OR2C3 olfactory receptor family 2 subfamily C member 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,524,677...247,536,440
Ensembl chr 1:247,524,677...247,536,440 		JBrowse link
G OR2G2 olfactory receptor family 2 subfamily G member 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,588,360...247,589,313
Ensembl chr 1:247,588,360...247,589,313 		JBrowse link
G OR2G3 olfactory receptor family 2 subfamily G member 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,605,586...247,606,515
Ensembl chr 1:247,605,586...247,606,515 		JBrowse link
G OR2G6 olfactory receptor family 2 subfamily G member 6 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,508,073...248,527,337
Ensembl chr 1:248,508,073...248,527,337 		JBrowse link
G OR2L13 olfactory receptor family 2 subfamily L member 13 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,937,177...248,101,163
Ensembl chr 1:248,095,184...248,101,163 		JBrowse link
G OR2L2 olfactory receptor family 2 subfamily L member 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,030,070...248,042,305
Ensembl chr 1:248,030,070...248,042,305 		JBrowse link
G OR2L3 olfactory receptor family 2 subfamily L member 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,046,836...248,063,407
Ensembl chr 1:248,046,836...248,063,407 		JBrowse link
G OR2L5 olfactory receptor family 2 subfamily L member 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,013,660...248,024,276
Ensembl chr 1:248,013,660...248,024,276 		JBrowse link
G OR2L8 olfactory receptor family 2 subfamily L member 8 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,948,858...247,949,796
Ensembl chr 1:247,948,858...247,949,796 		JBrowse link
G OR2M2 olfactory receptor family 2 subfamily M member 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,174,821...248,181,067
Ensembl chr 1:248,174,821...248,181,067 		JBrowse link
G OR2M3 olfactory receptor family 2 subfamily M member 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,197,265...248,212,925
Ensembl chr 1:248,197,265...248,212,925 		JBrowse link
G OR2M4 olfactory receptor family 2 subfamily M member 4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,231,417...248,244,679
Ensembl chr 1:248,231,417...248,244,679 		JBrowse link
G OR2M5 olfactory receptor family 2 subfamily M member 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,145,148...248,146,086
Ensembl chr 1:248,145,148...248,146,086 		JBrowse link
G OR2M7 olfactory receptor family 2 subfamily M member 7 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,323,630...248,324,568
Ensembl chr 1:248,323,630...248,324,568 		JBrowse link
G OR2T1 olfactory receptor family 2 subfamily T member 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,403,048...248,408,020
Ensembl chr 1:248,403,048...248,408,020 		JBrowse link
G OR2T10 olfactory receptor family 2 subfamily T member 10 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,590,487...248,597,700
Ensembl chr 1:248,590,487...248,597,700 		JBrowse link
G OR2T11 olfactory receptor family 2 subfamily T member 11 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,623,557...248,635,091
Ensembl chr 1:248,623,557...248,635,091 		JBrowse link
G OR2T12 olfactory receptor family 2 subfamily T member 12 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,290,139...248,303,424
Ensembl chr 1:248,290,139...248,303,424 		JBrowse link
G OR2T2 olfactory receptor family 2 subfamily T member 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,445,637...248,455,725
Ensembl chr 1:248,445,512...248,455,725 		JBrowse link
G OR2T27 olfactory receptor family 2 subfamily T member 27 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,649,838...248,655,528
Ensembl chr 1:248,649,838...248,655,528 		JBrowse link
G OR2T29 olfactory receptor family 2 subfamily T member 29 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,556,912...248,562,772
Ensembl chr 1:248,556,912...248,562,772 		JBrowse link
G OR2T3 olfactory receptor family 2 subfamily T member 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,473,351...248,474,307
Ensembl chr 1:248,473,351...248,474,307 		JBrowse link
G OR2T33 olfactory receptor family 2 subfamily T member 33 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,269,917...248,277,976
Ensembl chr 1:248,269,917...248,277,976 		JBrowse link
G OR2T34 olfactory receptor family 2 subfamily T member 34 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,573,801...248,574,757
Ensembl chr 1:248,573,801...248,574,757 		JBrowse link
G OR2T35 olfactory receptor family 2 subfamily T member 35 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,636,356...248,645,278
Ensembl chr 1:248,636,356...248,645,278 		JBrowse link
G OR2T4 olfactory receptor family 2 subfamily T member 4 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,361,665...248,362,627
Ensembl chr 1:248,361,665...248,362,627 		JBrowse link
G OR2T5 olfactory receptor family 2 subfamily T member 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,488,589...248,491,113
Ensembl chr 1:248,488,589...248,491,113 		JBrowse link
G OR2T6 olfactory receptor family 2 subfamily T member 6 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,375,746...248,391,811
Ensembl chr 1:248,375,746...248,391,811 		JBrowse link
G OR2T8 olfactory receptor family 2 subfamily T member 8 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,920,252...247,923,152
Ensembl chr 1:247,920,252...247,923,152 		JBrowse link
G OR2W3 olfactory receptor family 2 subfamily W member 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,895,587...247,896,531
Ensembl chr 1:247,895,587...247,896,531 		JBrowse link
G OR6F1 olfactory receptor family 6 subfamily F member 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,711,436...247,716,646
Ensembl chr 1:247,711,436...247,716,646 		JBrowse link
G PGBD2 piggyBac transposable element derived 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,872,851...248,930,191
Ensembl chr 1:248,906,196...248,919,946 		JBrowse link
G PLD5 phospholipase D family member 5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:242,082,986...242,530,546
Ensembl chr 1:242,082,986...242,524,697 		JBrowse link
G SCCPDH saccharopine dehydrogenase (putative) IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:246,724,409...246,768,137
Ensembl chr 1:246,724,409...246,768,137 		JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091 		JBrowse link
G SH3BP5L SH3 binding domain protein 5 like IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,810,446...248,825,915
Ensembl chr 1:248,810,446...248,825,915 		JBrowse link
G SMYD3 SET and MYND domain containing 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:245,749,347...246,507,279
Ensembl chr 1:245,749,342...246,507,312 		JBrowse link
G SPMIP3 sperm microtubule inner protein 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:244,352,635...244,389,663
Ensembl chr 1:244,352,635...244,389,663 		JBrowse link
G TFB2M transcription factor B2, mitochondrial IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:246,540,561...246,566,261
Ensembl chr 1:246,540,561...246,566,261 		JBrowse link
G TRIM58 tripartite motif containing 58 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,857,187...247,880,138
Ensembl chr 1:247,857,187...247,880,138 		JBrowse link
G VN1R5 vomeronasal 1 receptor 5 (gene/pseudogene) IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,256,072...247,257,145
Ensembl chr 1:247,255,972...247,257,210 		JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476 		JBrowse link
G ZNF124 zinc finger protein 124 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,121,975...247,172,379
Ensembl chr 1:247,121,975...247,172,020 		JBrowse link
G ZNF496 zinc finger protein 496 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,297,415...247,331,867
Ensembl chr 1:247,297,412...247,331,867 		JBrowse link
G ZNF669 zinc finger protein 669 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,099,962...247,104,356
Ensembl chr 1:247,099,962...247,104,372 		JBrowse link
G ZNF670 zinc finger protein 670 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:247,034,637...247,078,811
Ensembl chr 1:247,034,637...247,078,811 		JBrowse link
G ZNF672 zinc finger protein 672 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,838,224...248,849,517
Ensembl chr 1:248,838,210...248,849,517 		JBrowse link
G ZNF692 zinc finger protein 692 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:248,850,008...248,859,085
Ensembl chr 1:248,850,006...248,859,144 		JBrowse link
G ZNF695 zinc finger protein 695 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 ClinVar PMID:25741868 NCBI chr 1:246,945,546...247,008,057
Ensembl chr 1:246,945,547...247,008,093 		JBrowse link
developmental and epileptic encephalopathy 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGP phosphatidylinositol glycan anchor biosynthesis class P IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 55
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 55		 OMIM
ClinVar		 PMID:25741868 PMID:28334793 PMID:28492532 PMID:31139695 PMID:32042915 NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170 		JBrowse link
developmental and epileptic encephalopathy 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 56
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56		 OMIM
ClinVar		 PMID:23934111 PMID:25741868 PMID:28492532 PMID:28777935 PMID:31926053 More... NCBI chr 7:76,326,799...76,358,991
Ensembl chr 7:76,326,799...76,358,991 		JBrowse link
developmental and epileptic encephalopathy 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNT2 potassium sodium-activated channel subfamily T member 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 57 ClinVar
OMIM		 PMID:24166878 PMID:25741868 PMID:26724206 PMID:29069600 PMID:29314763 More... NCBI chr 1:196,225,779...196,608,440
Ensembl chr 1:196,225,779...196,609,225 		JBrowse link
developmental and epileptic encephalopathy 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NTRK2 neurotrophic receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 58 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29100083 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751 		JBrowse link
developmental and epileptic encephalopathy 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 susceptibility IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 59 ClinVar
OMIM		 PMID:25262651 PMID:25741868 PMID:28492532 PMID:28856709 PMID:29100083 More... NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935 		JBrowse link
developmental and epileptic encephalopathy 60 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNPY3 canopy FGF signaling regulator 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 60 OMIM
ClinVar		 PMID:25741868 PMID:29394991 NCBI chr 6:42,928,002...42,939,294
Ensembl chr 6:42,929,480...42,939,294 		JBrowse link
G CNPY3-GNMT CNPY3-GNMT readthrough IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 60 ClinVar PMID:25741868 PMID:29394991 NCBI chr 6:42,929,480...42,963,880 JBrowse link
developmental and epileptic encephalopathy 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM22 ADAM metallopeptidase domain 22 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 61 OMIM
ClinVar		 PMID:25741868 PMID:27066583 PMID:28492532 PMID:30237576 NCBI chr 7:87,934,251...88,202,889
Ensembl chr 7:87,934,143...88,202,889 		JBrowse link
developmental and epileptic encephalopathy 62 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 62
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 62
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 62 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 62
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 62 | ClinVar Annotator: match by term: SCN3A-related neurodevelopmental disorder		 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26467025 More... NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050 		JBrowse link
developmental and epileptic encephalopathy 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLX1 complexin 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 63 ClinVar
OMIM		 PMID:25741868 PMID:26539891 PMID:28422131 PMID:28492532 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
developmental and epileptic encephalopathy 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHOBTB2 Rho related BTB domain containing 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 64
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 64 | ClinVar Annotator: match by term: RHOBTB2-related condition		 ClinVar
OMIM		 PMID:18298893 PMID:18835386 PMID:25741868 PMID:26740508 PMID:28492532 More... NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509 		JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 64 ClinVar PMID:25741868 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864 		JBrowse link
developmental and epileptic encephalopathy 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYFIP2 cytoplasmic FMR1 interacting protein 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 65 ClinVar
OMIM		 PMID:21107423 PMID:25741868 PMID:25741869 PMID:25741870 PMID:26582918 More... NCBI chr 5:157,266,123...157,395,594
Ensembl chr 5:157,266,079...157,395,595 		JBrowse link
G LOC126807569 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:156817055-156818254 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 65 ClinVar PMID:30664714 NCBI chr 5:157,390,047...157,391,246 JBrowse link
G NIPAL4-DT NIPAL4 divergent transcript IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 65 ClinVar PMID:25741868 PMID:28492532 PMID:30664714 NCBI chr 5:157,362,615...157,460,100 JBrowse link
developmental and epileptic encephalopathy 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 66 ClinVar PMID:25741868 PMID:28492532 PMID:32725632 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G LOC130056677 ATAC-STARR-seq lymphoblastoid silent region 6228 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 66 ClinVar PMID:25741868 PMID:28492532 PMID:32725632 NCBI chr14:105,314,970...105,315,059 JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 66
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 66 | ClinVar Annotator: match by term: PACS2-related condition		 OMIM
ClinVar		 PMID:20186691 PMID:23733235 PMID:25034272 PMID:25741868 PMID:26626314 More... NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147 		JBrowse link
developmental and epileptic encephalopathy 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUX2 cut like homeobox 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67 OMIM
ClinVar		 PMID:20404132 PMID:23020937 PMID:25741868 PMID:28492532 PMID:28628100 More... NCBI chr12:111,034,165...111,350,554
Ensembl chr12:111,034,165...111,350,554 		JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 67 ClinVar PMID:20404132 PMID:25741868 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623 		JBrowse link
developmental and epileptic encephalopathy 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129936554 ATAC-STARR-seq lymphoblastoid active region 19739 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 68 ClinVar PMID:25741868 PMID:28492532
G TRAK1 trafficking kinesin protein 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 68
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 68 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68		 ClinVar
OMIM		 PMID:25741868 PMID:28364549 PMID:28492532 PMID:28940097 PMID:29846532 NCBI chr 3:42,013,093...42,225,890
Ensembl chr 3:42,013,802...42,225,890 		JBrowse link
developmental and epileptic encephalopathy 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1E calcium voltage-gated channel subunit alpha1 E IAGP ClinVar Annotator: match by term: CACNA1E-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 69
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 69 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69		 OMIM
ClinVar		 PMID:16199547 PMID:17660294 PMID:23934111 PMID:25741868 PMID:28492532 More... NCBI chr 1:181,317,699...181,808,084
Ensembl chr 1:181,317,690...181,813,262 		JBrowse link
developmental and epileptic encephalopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 7
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 7
ClinVar Annotator: match by term: KCNQ2-Related Neonatal Epileptic Encephalopathy
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 7 | ClinVar Annotator: match by term: KCNQ2-Related Neonatal Epileptic Encephalopathy
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 7 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 7
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 7 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 7 | ClinVar Annotator: match by term: KCNQ2-Related Neonatal Epileptic Encephalopathy
OMIM:613720
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:2847176 PMID:3360469 PMID:9425895 PMID:9430594 PMID:9536098 More... NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677 		JBrowse link
developmental and epileptic encephalopathy 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL008729.1 novel transcript, antisense to PHACTR1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 70 ClinVar PMID:23033978 PMID:25741868 PMID:30256902 PMID:33463715 NCBI chr 6:13,273,094...13,295,586
Ensembl chr 6:13,264,861...13,295,586 		JBrowse link
G LOC129995804 ATAC-STARR-seq lymphoblastoid active region 24022 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 70 ClinVar PMID:25741868 PMID:30256902 PMID:33463715
G PHACTR1 phosphatase and actin regulator 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 70 ClinVar
OMIM		 PMID:23033978 PMID:25741868 PMID:30256902 PMID:33463715 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
G TBC1D7 TBC1 domain family member 7 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 70 ClinVar PMID:23033978 PMID:25741868 PMID:30256902 PMID:33463715 NCBI chr 6:13,266,536...13,328,537
Ensembl chr 6:13,266,542...13,328,583 		JBrowse link
developmental and epileptic encephalopathy 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLS glutaminase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71 OMIM
ClinVar		 PMID:25741868 PMID:30575854 NCBI chr 2:190,880,821...190,965,552
Ensembl chr 2:190,880,821...190,965,552 		JBrowse link
developmental and epileptic encephalopathy 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEUROD2 neuronal differentiation 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 72 OMIM
ClinVar		 PMID:25741868 PMID:30323019 NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777 		JBrowse link
developmental and epileptic encephalopathy 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF13 ring finger protein 13 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 73 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30595371 NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139 		JBrowse link
developmental and epileptic encephalopathy 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 74
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74		 OMIM
ClinVar		 PMID:22539854 PMID:22750526 PMID:23708187 PMID:24407264 PMID:25726841 More... NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
developmental and epileptic encephalopathy 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PARS2 prolyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 75		 OMIM
ClinVar		 PMID:22237560 PMID:25629079 PMID:25705216 PMID:25741868 PMID:27290639 More... NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523 		JBrowse link
developmental and epileptic encephalopathy 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL6B actin like 6B IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 76
ClinVar Annotator: match by term: ACTL6B-related BAFopathy		 ClinVar
OMIM		 PMID:25741868 PMID:26539891 PMID:28492532 PMID:30237576 PMID:30656450 More... NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, EPILEPTIC ENCEPHALOPATHY, CEREBRAL ATROPHY, AND ABNORMAL MYELINATION ClinVar PMID:12566275 PMID:16199547 PMID:17347258 PMID:18930999 PMID:20522430 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214 		JBrowse link
developmental and epileptic encephalopathy 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 78
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 78 | ClinVar Annotator: match by term: GABRA2-related condition
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78		 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29422393 PMID:29758562 PMID:29961870 More... NCBI chr 4:46,243,548...46,390,300
Ensembl chr 4:46,243,548...46,475,230 		JBrowse link
developmental and epileptic encephalopathy 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 79 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29961870 PMID:31056671 PMID:31513310 NCBI chr15:26,866,719...26,949,208
Ensembl chr15:26,866,911...26,949,208 		JBrowse link
developmental and epileptic encephalopathy 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMER1 APC membrane recruitment protein 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:15215304 PMID:16199547 PMID:16616186 PMID:17576681 More... NCBI chr  X:63,634,967...63,785,214
Ensembl chr  X:63,634,967...63,809,274 		JBrowse link
G ASB12 ankyrin repeat and SOCS box containing 12 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:64,224,194...64,230,607
Ensembl chr  X:64,224,194...64,230,607 		JBrowse link
G MTMR8 myotubularin related protein 8 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:64,268,081...64,395,452
Ensembl chr  X:64,268,081...64,395,452 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
developmental and epileptic encephalopathy 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCPG1 cell cycle progression 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 ClinVar PMID:25741868 PMID:28492532 PMID:31256876 NCBI chr15:55,355,239...55,408,359
Ensembl chr15:55,340,032...55,408,510 		JBrowse link
G DNAAF4-CCPG1 DNAAF4-CCPG1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 ClinVar PMID:25741868 PMID:28492532 PMID:31256876 NCBI chr15:55,355,223...55,498,584
Ensembl chr15:55,355,248...55,498,360 		JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 80 | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 20		 OMIM
ClinVar		 PMID:16199547 PMID:17343268 PMID:25326635 PMID:25741868 PMID:28492532 More... NCBI chr15:55,319,222...55,355,648
Ensembl chr15:55,318,960...55,355,648 		JBrowse link
developmental and epileptic encephalopathy 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMXL2 Dmx like 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 81
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 81 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30237576 More... NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
developmental and epileptic encephalopathy 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GOT2 glutamic-oxaloacetic transaminase 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 82
ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31422819 NCBI chr16:58,707,131...58,734,316
Ensembl chr16:58,707,131...58,734,342 		JBrowse link
G LOC126862363 BRD4-independent group 4 enhancer GRCh37_chr16:58751959-58753158 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 82 ClinVar PMID:25741868 NCBI chr16:58,718,055...58,719,254 JBrowse link
developmental and epileptic encephalopathy 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 83 ClinVar PMID:25741868 PMID:28492532 NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033 		JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 83 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31820119 NCBI chr 2:63,840,969...63,891,560
Ensembl chr 2:63,840,952...63,891,562 		JBrowse link
developmental and epileptic encephalopathy 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UGDH UDP-glucose 6-dehydrogenase IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 84 OMIM
ClinVar		 PMID:25741868 PMID:32001716 PMID:32860008 NCBI chr 4:39,498,755...39,527,439
Ensembl chr 4:39,498,755...39,528,311 		JBrowse link
developmental and epileptic encephalopathy 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMC1A structural maintenance of chromosomes 1A IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 85, with or without midline brain defects
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 85, with or without midline brain defects | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 85, WITH OR WITHOUT MIDLINE BRAIN DEFECTS		 OMIM
ClinVar		 PMID:17273969 PMID:19701948 PMID:25741868 PMID:26358754 PMID:26386245 More... NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
developmental and epileptic encephalopathy 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DALRD3 DALR anticodon binding domain containing 3 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 86 OMIM
ClinVar		 PMID:25741868 PMID:32427860 NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293 		JBrowse link
developmental and epileptic encephalopathy 87 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMD1 adenosylmethionine decarboxylase 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 87 ClinVar PMID:25741868 PMID:32330417 PMID:33134521 PMID:33495529 PMID:33568421 NCBI chr 6:110,814,617...110,895,713
Ensembl chr 6:110,874,770...110,898,879 		JBrowse link
G CDK19 cyclin dependent kinase 19 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 87 OMIM
ClinVar		 PMID:25741868 PMID:32330417 PMID:33134521 PMID:33495529 PMID:33568421 NCBI chr 6:110,609,978...110,815,855
Ensembl chr 6:110,609,978...110,815,958 		JBrowse link
developmental and epileptic encephalopathy 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MDH1 malate dehydrogenase 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 88 ClinVar
OMIM		 PMID:31538237 NCBI chr 2:63,588,963...63,607,197
Ensembl chr 2:63,588,609...63,607,197 		JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 88 ClinVar PMID:31538237 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843 		JBrowse link
developmental and epileptic encephalopathy 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAD1 glutamate decarboxylase 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 89 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32282878 PMID:32705143 PMID:33146701 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151 		JBrowse link
developmental and epileptic encephalopathy 90 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF13 fibroblast growth factor 13 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 90 OMIM
ClinVar		 PMID:25741868 PMID:33245860 PMID:34871784 NCBI chr  X:138,614,727...139,205,023
Ensembl chr  X:138,614,727...139,222,777 		JBrowse link
Dravet syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CGN cingulin IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,510,170...151,538,692
Ensembl chr 1:151,510,510...151,538,692 		JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977 		JBrowse link
G LOC129931442 ATAC-STARR-seq lymphoblastoid silent region 1324 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:25741868 PMID:28492532
G LYSMD1 LysM domain containing 1 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,148,496...151,165,902
Ensembl chr 1:151,159,748...151,165,948 		JBrowse link
G PI4KB phosphatidylinositol 4-kinase beta IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,291,797...151,327,715
Ensembl chr 1:151,291,797...151,327,715 		JBrowse link
G PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,195,419...151,249,531
Ensembl chr 1:151,197,949...151,249,536 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G PSMB4 proteasome 20S subunit beta 4 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,399,573...151,401,937
Ensembl chr 1:151,399,560...151,401,937 		JBrowse link
G PSMD4 proteasome 26S subunit ubiquitin receptor, non-ATPase 4 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,254,734...151,267,479
Ensembl chr 1:151,254,709...151,267,479 		JBrowse link
G RFX5 regulatory factor X5 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,340,640...151,347,252
Ensembl chr 1:151,340,640...151,347,326 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP
ISS		 ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6 | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy 6 | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
OMIM:607208		 ClinVar
MouseDO
OMIM		 PMID:1893009 PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214 		JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy 6		 ClinVar PMID:1893009 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10742094 More... NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771 		JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:21698661 PMID:23895530 PMID:25250524 PMID:25741868 PMID:26467025 More... NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar Annotator: match by term: Dravet syndrome		 ClinVar PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001 		JBrowse link
G SCNM1 sodium channel modifier 1 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,166,144...151,170,296
Ensembl chr 1:151,156,664...151,170,296 		JBrowse link
G SELENBP1 selenium binding protein 1 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,364,304...151,372,705
Ensembl chr 1:151,364,304...151,372,707 		JBrowse link
G SNX27 sorting nexin 27 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894286 PMID:28492532 More... NCBI chr 1:151,612,050...151,699,080
Ensembl chr 1:151,612,006...151,699,091 		JBrowse link
G TMOD4 tropomodulin 4 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,169,987...151,175,981
Ensembl chr 1:151,169,986...151,176,284 		JBrowse link
G TNFAIP8L2 TNF alpha induced protein 8 like 2 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,156,649...151,159,749
Ensembl chr 1:151,156,649...151,159,749 		JBrowse link
G TUFT1 tuftelin 1 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,540,309...151,583,583
Ensembl chr 1:151,540,305...151,583,583 		JBrowse link
G VPS72 vacuolar protein sorting 72 homolog IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,176,304...151,190,197
Ensembl chr 1:151,176,304...151,195,321 		JBrowse link
G ZNF687 zinc finger protein 687 IAGP ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy ClinVar PMID:28492532 NCBI chr 1:151,281,522...151,292,176
Ensembl chr 1:151,281,618...151,292,176 		JBrowse link
microcephaly, seizures, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NUSAP1 nucleolar and spindle associated protein 1 IAGP ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay ClinVar PMID:25741868 NCBI chr15:41,332,881...41,381,046
Ensembl chr15:41,320,794...41,381,050 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP
EXP		 ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 | ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:10446192 PMID:11704758 PMID:15136689 PMID:16199547 More... NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE2 angiotensin converting enzyme 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,518,197...15,607,211
Ensembl chr  X:15,494,566...15,607,236 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G ASB11 ankyrin repeat and SOCS box containing 11 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,281,697...15,315,640
Ensembl chr  X:15,281,697...15,315,640 		JBrowse link
G ASB9 ankyrin repeat and SOCS box containing 9 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,243,987...15,270,467
Ensembl chr  X:15,235,288...15,270,467 		JBrowse link
G BMX BMX non-receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,500,807...15,556,519
Ensembl chr  X:15,464,246...15,556,529 		JBrowse link
G CA5B carbonic anhydrase 5B IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,738,270...15,788,411
Ensembl chr  X:15,688,830...15,788,411 		JBrowse link
G CLTRN collectrin, amino acid transport regulator IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,627,318...15,675,644
Ensembl chr  X:15,627,318...15,675,012 		JBrowse link
G FANCB FA complementation group B IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G INE2 inactivation escape 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,785,716...15,787,589
Ensembl chr  X:15,785,716...15,787,589 		JBrowse link
G MOSPD2 motile sperm domain containing 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:14,873,421...14,922,327
Ensembl chr  X:14,873,421...14,922,327 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP
EXP		 ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:2915993 PMID:8541557 PMID:8599356 PMID:8652378 PMID:9307258 More... NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIR pirin IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,384,799...15,493,333
Ensembl chr  X:15,384,799...15,493,564 		JBrowse link
G VEGFD vascular endothelial growth factor D IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,345,596...15,384,413
Ensembl chr  X:15,345,596...15,384,413 		JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 IAGP ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2 ClinVar PMID:24706016 PMID:26545172 PMID:28492532 NCBI chr  X:15,790,484...15,823,260
Ensembl chr  X:15,790,156...15,830,694 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77
ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4		 OMIM
ClinVar		 PMID:16199547 PMID:24463883 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35753
    syndrome 18144
      electroclinical syndrome 1763
        neonatal period electroclinical syndrome 1282
          early infantile epileptic encephalopathy 1257
            Dravet syndrome 24
            congenital disorder of glycosylation type IIm 89
            developmental and epileptic encephalopathy 1 74
            developmental and epileptic encephalopathy 11 19
            developmental and epileptic encephalopathy 12 53
            developmental and epileptic encephalopathy 13 18
            developmental and epileptic encephalopathy 14 132
            developmental and epileptic encephalopathy 15 3
            developmental and epileptic encephalopathy 16 1
            developmental and epileptic encephalopathy 17 1
            developmental and epileptic encephalopathy 18 6
            developmental and epileptic encephalopathy 19 1
            developmental and epileptic encephalopathy 2 21
            developmental and epileptic encephalopathy 21 47
            developmental and epileptic encephalopathy 23 6
            developmental and epileptic encephalopathy 24 1
            developmental and epileptic encephalopathy 25 32
            developmental and epileptic encephalopathy 26 16
            developmental and epileptic encephalopathy 27 2
            developmental and epileptic encephalopathy 28 36
            developmental and epileptic encephalopathy 29 1
            developmental and epileptic encephalopathy 3 1
            developmental and epileptic encephalopathy 30 77
            developmental and epileptic encephalopathy 31A 40
            developmental and epileptic encephalopathy 32 10
            developmental and epileptic encephalopathy 33 56
            developmental and epileptic encephalopathy 34 4
            developmental and epileptic encephalopathy 35 1
            developmental and epileptic encephalopathy 36 5
            developmental and epileptic encephalopathy 37 6
            developmental and epileptic encephalopathy 38 2
            developmental and epileptic encephalopathy 39 1
            developmental and epileptic encephalopathy 4 6
            developmental and epileptic encephalopathy 40 1
            developmental and epileptic encephalopathy 41 1
            developmental and epileptic encephalopathy 42 5
            developmental and epileptic encephalopathy 43 1
            developmental and epileptic encephalopathy 44 4
            developmental and epileptic encephalopathy 45 1
            developmental and epileptic encephalopathy 46 3
            developmental and epileptic encephalopathy 47 1
            developmental and epileptic encephalopathy 48 3
            developmental and epileptic encephalopathy 49 2
            developmental and epileptic encephalopathy 5 1
            developmental and epileptic encephalopathy 50 3
            developmental and epileptic encephalopathy 51 1
            developmental and epileptic encephalopathy 52 2
            developmental and epileptic encephalopathy 53 1
            developmental and epileptic encephalopathy 54 76
            developmental and epileptic encephalopathy 55 1
            developmental and epileptic encephalopathy 56 1
            developmental and epileptic encephalopathy 57 1
            developmental and epileptic encephalopathy 58 1
            developmental and epileptic encephalopathy 59 1
            developmental and epileptic encephalopathy 60 2
            developmental and epileptic encephalopathy 61 1
            developmental and epileptic encephalopathy 62 1
            developmental and epileptic encephalopathy 63 1
            developmental and epileptic encephalopathy 64 2
            developmental and epileptic encephalopathy 65 3
            developmental and epileptic encephalopathy 66 3
            developmental and epileptic encephalopathy 67 2
            developmental and epileptic encephalopathy 68 2
            developmental and epileptic encephalopathy 69 1
            developmental and epileptic encephalopathy 7 1
            developmental and epileptic encephalopathy 70 4
            developmental and epileptic encephalopathy 71 1
            developmental and epileptic encephalopathy 72 1
            developmental and epileptic encephalopathy 73 1
            developmental and epileptic encephalopathy 74 1
            developmental and epileptic encephalopathy 75 1
            developmental and epileptic encephalopathy 76 2
            developmental and epileptic encephalopathy 78 1
            developmental and epileptic encephalopathy 79 1
            developmental and epileptic encephalopathy 8 5
            developmental and epileptic encephalopathy 80 3
            developmental and epileptic encephalopathy 81 1
            developmental and epileptic encephalopathy 82 2
            developmental and epileptic encephalopathy 83 2
            developmental and epileptic encephalopathy 84 1
            developmental and epileptic encephalopathy 85 1
            developmental and epileptic encephalopathy 86 1
            developmental and epileptic encephalopathy 87 2
            developmental and epileptic encephalopathy 88 2
            developmental and epileptic encephalopathy 89 1
            developmental and epileptic encephalopathy 90 1
            microcephaly, seizures, and developmental delay 2
            multiple congenital anomalies-hypotonia-seizures syndrome 2 14
            multiple congenital anomalies-hypotonia-seizures syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 35753
    disease of anatomical entity 32492
      nervous system disease 26372
        central nervous system disease 23607
          brain disease 22046
            epilepsy 3694
              electroclinical syndrome 1763
                neonatal period electroclinical syndrome 1282
                  early infantile epileptic encephalopathy 1257
                    Dravet syndrome 24
                    congenital disorder of glycosylation type IIm 89
                    developmental and epileptic encephalopathy 1 74
                    developmental and epileptic encephalopathy 11 19
                    developmental and epileptic encephalopathy 12 53
                    developmental and epileptic encephalopathy 13 18
                    developmental and epileptic encephalopathy 14 132
                    developmental and epileptic encephalopathy 15 3
                    developmental and epileptic encephalopathy 16 1
                    developmental and epileptic encephalopathy 17 1
                    developmental and epileptic encephalopathy 18 6
                    developmental and epileptic encephalopathy 19 1
                    developmental and epileptic encephalopathy 2 21
                    developmental and epileptic encephalopathy 21 47
                    developmental and epileptic encephalopathy 23 6
                    developmental and epileptic encephalopathy 24 1
                    developmental and epileptic encephalopathy 25 32
                    developmental and epileptic encephalopathy 26 16
                    developmental and epileptic encephalopathy 27 2
                    developmental and epileptic encephalopathy 28 36
                    developmental and epileptic encephalopathy 29 1
                    developmental and epileptic encephalopathy 3 1
                    developmental and epileptic encephalopathy 30 77
                    developmental and epileptic encephalopathy 31A 40
                    developmental and epileptic encephalopathy 32 10
                    developmental and epileptic encephalopathy 33 56
                    developmental and epileptic encephalopathy 34 4
                    developmental and epileptic encephalopathy 35 1
                    developmental and epileptic encephalopathy 36 5
                    developmental and epileptic encephalopathy 37 6
                    developmental and epileptic encephalopathy 38 2
                    developmental and epileptic encephalopathy 39 1
                    developmental and epileptic encephalopathy 4 6
                    developmental and epileptic encephalopathy 40 1
                    developmental and epileptic encephalopathy 41 1
                    developmental and epileptic encephalopathy 42 5
                    developmental and epileptic encephalopathy 43 1
                    developmental and epileptic encephalopathy 44 4
                    developmental and epileptic encephalopathy 45 1
                    developmental and epileptic encephalopathy 46 3
                    developmental and epileptic encephalopathy 47 1
                    developmental and epileptic encephalopathy 48 3
                    developmental and epileptic encephalopathy 49 2
                    developmental and epileptic encephalopathy 5 1
                    developmental and epileptic encephalopathy 50 3
                    developmental and epileptic encephalopathy 51 1
                    developmental and epileptic encephalopathy 52 2
                    developmental and epileptic encephalopathy 53 1
                    developmental and epileptic encephalopathy 54 76
                    developmental and epileptic encephalopathy 55 1
                    developmental and epileptic encephalopathy 56 1
                    developmental and epileptic encephalopathy 57 1
                    developmental and epileptic encephalopathy 58 1
                    developmental and epileptic encephalopathy 59 1
                    developmental and epileptic encephalopathy 60 2
                    developmental and epileptic encephalopathy 61 1
                    developmental and epileptic encephalopathy 62 1
                    developmental and epileptic encephalopathy 63 1
                    developmental and epileptic encephalopathy 64 2
                    developmental and epileptic encephalopathy 65 3
                    developmental and epileptic encephalopathy 66 3
                    developmental and epileptic encephalopathy 67 2
                    developmental and epileptic encephalopathy 68 2
                    developmental and epileptic encephalopathy 69 1
                    developmental and epileptic encephalopathy 7 1
                    developmental and epileptic encephalopathy 70 4
                    developmental and epileptic encephalopathy 71 1
                    developmental and epileptic encephalopathy 72 1
                    developmental and epileptic encephalopathy 73 1
                    developmental and epileptic encephalopathy 74 1
                    developmental and epileptic encephalopathy 75 1
                    developmental and epileptic encephalopathy 76 2
                    developmental and epileptic encephalopathy 78 1
                    developmental and epileptic encephalopathy 79 1
                    developmental and epileptic encephalopathy 8 5
                    developmental and epileptic encephalopathy 80 3
                    developmental and epileptic encephalopathy 81 1
                    developmental and epileptic encephalopathy 82 2
                    developmental and epileptic encephalopathy 83 2
                    developmental and epileptic encephalopathy 84 1
                    developmental and epileptic encephalopathy 85 1
                    developmental and epileptic encephalopathy 86 1
                    developmental and epileptic encephalopathy 87 2
                    developmental and epileptic encephalopathy 88 2
                    developmental and epileptic encephalopathy 89 1
                    developmental and epileptic encephalopathy 90 1
                    microcephaly, seizures, and developmental delay 2
                    multiple congenital anomalies-hypotonia-seizures syndrome 2 14
                    multiple congenital anomalies-hypotonia-seizures syndrome 4 1
paths to the root