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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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



show annotations for term's descendants           Sort by:
developmental and epileptic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABHD16B abhydrolase domain containing 16B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chr17:62,729,995...62,732,060
Ensembl chr17:62,730,062...62,731,474
JBrowse link
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:270,761,641...270,906,708
Ensembl chr 1:270,761,668...270,906,708
JBrowse link
G ADGRG1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,523,618...19,570,891
Ensembl chr 6:19,527,648...19,570,893
JBrowse link
G ADGRG3 adhesion G protein-coupled receptor G3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,573,080...19,599,082
Ensembl chr 6:19,574,530...19,599,080
JBrowse link
G ADGRG5 adhesion G protein-coupled receptor G5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,456,550...19,488,667
Ensembl chr 6:19,463,024...19,488,623
JBrowse link
G ADRM1 ADRM1 26S proteasome ubiquitin receptor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,692,923...61,698,138
Ensembl chr17:61,692,945...61,698,144
JBrowse link
G AIF1L allograft inflammatory factor 1 like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:271,075,376...271,099,984
Ensembl chr 1:271,072,734...271,102,803
JBrowse link
G AK1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,355,032...268,365,659
Ensembl chr 1:268,355,033...268,365,598
JBrowse link
G AK8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:272,497,661...272,625,668
Ensembl chr 1:272,497,662...272,625,660
JBrowse link
G AKR1A1 aldo-keto reductase family 1 member A1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:165,811,245...165,825,168
Ensembl chr 6:165,811,247...165,824,896
JBrowse link
G AMFR autocrine motility factor receptor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:29,366,812...29,417,800
Ensembl chr 6:29,366,936...29,413,697
JBrowse link
G ANGPTL2 angiopoietin like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 1:267,639,636...267,672,918
Ensembl chr 1:267,639,638...267,672,923
JBrowse link
G ANO4 anoctamin 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 5:83,052,070...83,489,523
Ensembl chr 5:83,052,958...83,489,433
JBrowse link
G ANO9 anoctamin 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:232,761...250,966
Ensembl chr 2:232,194...250,935
JBrowse link
G ANXA2R annexin A2 receptor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:27,744,342...27,744,896 JBrowse link
G AP2A2 adaptor related protein complex 2 subunit alpha 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:580,169...628,098
Ensembl chr 2:580,182...628,087
JBrowse link
G APEH acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,205,863...32,214,517
Ensembl chr13:32,205,609...32,214,518
JBrowse link
G ARFGAP1 ADP ribosylation factor GTPase activating protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,380,060...62,391,836
Ensembl chr17:62,380,091...62,391,856
JBrowse link
G ARFRP1 ADP ribosylation factor related protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chr17:62,636,584...62,642,485
Ensembl chr17:62,636,588...62,642,490
JBrowse link
G ARHGEF15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23647072 PMID:25741868 More... NCBI chr12:53,495,409...53,506,373
Ensembl chr12:53,495,453...53,506,352
JBrowse link
G ARL2BP ADP ribosylation factor like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,207,013...19,215,014
Ensembl chr 6:19,207,071...19,223,194
JBrowse link
G ARMH1 armadillo like helical domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:166,572,968...166,645,129
Ensembl chr 6:166,592,845...166,645,014
JBrowse link
G ART1 ADP-ribosyltransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 9:6,432,513...6,443,639
Ensembl chr 9:6,431,021...6,443,603
JBrowse link
G ART5 ADP-ribosyltransferase 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 9:6,443,768...6,449,203
Ensembl chr 9:6,442,459...6,449,199
JBrowse link
G ARTN artemin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 6:167,356,363...167,361,370
Ensembl chr 6:167,357,662...167,360,729
JBrowse link
G ASB6 ankyrin repeat and SOCS box containing 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,828,978...269,834,283
Ensembl chr 1:269,828,985...269,834,271
JBrowse link
G ASCL2 achaete-scute family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:1,558,459...1,560,112
Ensembl chr 2:1,558,459...1,560,112
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,364
JBrowse link
G ATP6V0B ATPase H+ transporting V0 subunit b ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 6:167,316,945...167,320,355
Ensembl chr 6:167,316,947...167,320,212
JBrowse link
G AVEN apoptosis and caspase activation inhibitor ISO ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy ClinVar NCBI chr 7:80,447,337...80,640,120
Ensembl chr 7:80,447,524...80,640,119
JBrowse link
G B4GALNT4 beta-1,4-N-acetyl-galactosaminyltransferase 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:192,903...206,862
Ensembl chr 2:192,997...204,875
JBrowse link
G B4GALT2 beta-1,4-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 6:167,305,903...167,316,009
Ensembl chr 6:167,305,908...167,315,871
JBrowse link
G BARHL1 BarH like homeobox 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:272,373,125...272,380,223
Ensembl chr 1:272,373,402...272,381,224
JBrowse link
G BBLN bublin coiled coil protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,616,040...268,619,638 JBrowse link
G BBS2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:18,542,383...18,575,338
Ensembl chr 6:18,542,386...18,575,514
JBrowse link
G BEST4 bestrophin 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:166,540,767...166,547,149
Ensembl chr 6:166,528,987...166,546,996
JBrowse link
G BHLHE23 basic helix-loop-helix family member e23 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,217,583...62,228,599
Ensembl chr17:62,227,916...62,228,638
JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,351,663...62,356,220 JBrowse link
G BRSK2 BR serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:896,720...953,908
Ensembl chr 2:896,585...953,108
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 NCBI chr 2:9,052,676...9,064,890
Ensembl chr 2:9,052,070...9,064,886
JBrowse link
G BSN bassoon presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,106,967...32,203,461
Ensembl chr13:32,159,630...32,195,578
JBrowse link
G BTBD19 BTB domain containing 19 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:166,520,266...166,526,725
Ensembl chr 6:166,520,244...166,526,858
JBrowse link
G C13H3orf18 chromosome 13 C3orf18 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:33,036,889...33,045,704
Ensembl chr13:33,036,900...33,045,596
JBrowse link
G C16H5orf34 chromosome 16 C5orf34 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:28,060,297...28,094,206
Ensembl chr16:28,058,264...28,094,452
JBrowse link
G C1H9orf50 chromosome 1 C9orf50 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,808,945...269,824,645 JBrowse link
G C1H9orf78 chromosome 1 C9orf78 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,986,386...269,995,394
Ensembl chr 1:269,986,391...269,995,395
JBrowse link
G CABLES2 Cdk5 and Abl enzyme substrate 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,764,933...61,778,394
Ensembl chr17:61,764,937...61,778,394
JBrowse link
G CACNA1E calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:17660294 PMID:23934111 PMID:25741868 PMID:26680202 PMID:28135719 More... NCBI chr 9:122,827,386...123,318,372
Ensembl chr 9:123,006,195...123,315,319
JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 More... NCBI chr13:32,845,110...32,988,851
Ensembl chr13:32,845,115...32,988,774
JBrowse link
G CAMKV CaM kinase like vesicle associated ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,381,122...32,401,480
Ensembl chr13:32,381,128...32,392,987
JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:2,119,576...2,163,378
Ensembl chr 2:2,119,592...2,163,343
JBrowse link
G CCDC102A coiled-coil domain containing 102A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,436,379...19,456,995
Ensembl chr 6:19,437,169...19,456,905
JBrowse link
G CCDC152 coiled-coil domain containing 152 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:27,474,697...27,538,361
Ensembl chr16:27,471,003...27,538,665
JBrowse link
G CCDC17 coiled-coil domain containing 17 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:165,768,569...165,772,763 JBrowse link
G CCDC24 coiled-coil domain containing 24 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 6:167,301,560...167,305,471
Ensembl chr 6:167,301,565...167,305,255
JBrowse link
G CCL17 C-C motif chemokine ligand 17 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,345,929...19,372,972
Ensembl chr 6:19,345,941...19,348,926
JBrowse link
G CCL22 C-C motif chemokine ligand 22 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,296,726...19,301,506
Ensembl chr 6:19,296,637...19,302,737
JBrowse link
G CCL28 C-C motif chemokine ligand 28 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:27,990,024...28,010,859
Ensembl chr16:27,985,167...28,010,858
JBrowse link
G CD151 CD151 molecule ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:525,000...529,568
Ensembl chr 2:525,051...529,565
JBrowse link
G CD81 CD81 molecule ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:1,625,728...1,641,662
Ensembl chr 2:1,625,736...1,641,663
JBrowse link
G CDHR4 cadherin related family member 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,322,030...32,329,530
Ensembl chr13:32,322,034...32,329,337
JBrowse link
G CDHR5 cadherin related family member 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:376,449...382,713
Ensembl chr 2:375,726...382,719
JBrowse link
G CDK9 cyclin dependent kinase 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,277,083...268,280,493
Ensembl chr 1:268,276,841...268,281,052
JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:32366967 NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:2,019,391...2,022,092
Ensembl chr 2:2,019,830...2,021,853
JBrowse link
G CEL carboxyl ester lipase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:272,763,203...272,770,259
Ensembl chr 1:272,763,003...272,770,255
JBrowse link
G CEND1 cell cycle exit and neuronal differentiation 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:487,817...490,704
Ensembl chr 2:487,821...490,699
JBrowse link
G CERCAM cerebral endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,834,967...268,847,236
Ensembl chr 1:268,834,966...268,847,223
JBrowse link
G CFAP157 cilia and flagella associated protein 157 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,209,190...268,213,909
Ensembl chr 1:268,209,187...268,215,859
JBrowse link
G CFAP20 cilia and flagella associated protein 20 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,954,698...19,969,383
Ensembl chr 6:19,954,925...19,969,347
JBrowse link
G CFAP263 cilia and flagella associated protein 263 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:20,052,669...20,088,819
Ensembl chr 6:20,052,651...20,088,816
JBrowse link
G CFAP77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:272,216,581...272,362,321
Ensembl chr 1:272,217,072...272,361,733
JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar NCBI chr 7:85,980,759...86,107,886
Ensembl chr 7:85,983,837...86,106,938
JBrowse link
G CHID1 chitinase domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:551,973...570,849
Ensembl chr 2:552,324...571,753
JBrowse link
G CHRNA10 cholinergic receptor nicotinic alpha 10 subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 9:6,427,832...6,431,881
Ensembl chr 9:6,427,191...6,432,875
JBrowse link
G CHRNA4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9425895 PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 More... NCBI chr17:62,424,672...62,436,646
Ensembl chr17:62,423,878...62,435,728
JBrowse link
G CIAPIN1 cytokine induced apoptosis inhibitor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,356,065...19,373,085
Ensembl chr 6:19,356,069...19,373,060
JBrowse link
G CISH cytokine inducible SH2 containing protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:33,086,280...33,090,540
Ensembl chr13:33,085,286...33,090,858
JBrowse link
G CIZ1 CDKN1A interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,618,972...268,642,064
Ensembl chr 1:268,617,087...268,641,893
JBrowse link
G CNGB1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,752,734...19,865,830 JBrowse link
G CNOT1 CCR4-NOT transcription complex subunit 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:20,271,593...20,372,300
Ensembl chr 6:20,271,596...20,372,245
JBrowse link
G COL20A1 collagen type XX alpha 1 chain ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,395,383...62,419,054 JBrowse link
G COL9A3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,074,108...62,094,228
Ensembl chr17:62,074,855...62,093,703
JBrowse link
G COQ4 coenzyme Q4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,756,690...268,768,355
Ensembl chr 1:268,756,685...268,768,343
JBrowse link
G COQ9 coenzyme Q9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,373,052...19,390,738
Ensembl chr 6:19,372,711...19,390,820
JBrowse link
G CPNE2 copine 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,046,795...19,096,111
Ensembl chr 6:19,046,795...19,096,107
JBrowse link
G CRACR2B calcium release activated channel regulator 2B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:518,102...524,085
Ensembl chr 2:518,544...524,081
JBrowse link
G CRAT carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,387,430...269,401,334
Ensembl chr 1:269,386,650...269,401,331
JBrowse link
G CSNK2A2 casein kinase 2 alpha 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,975,030...20,016,768
Ensembl chr 6:19,976,930...20,016,923
JBrowse link
G CSRNP3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:72,040,854...72,242,269
Ensembl chr15:72,141,621...72,233,832
JBrowse link
G CTSD cathepsin D ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:1,188,548...1,197,642
Ensembl chr 2:1,188,549...1,197,643
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,312,351...19,324,439 JBrowse link
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450
JBrowse link
G DDX31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:272,383,585...272,454,395
Ensembl chr 1:272,383,595...272,453,979
JBrowse link
G DEAF1 DEAF1 transcription factor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:404,514...427,584
Ensembl chr 2:404,533...427,542
JBrowse link
G DIDO1 death inducer-obliterator 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,126,026...62,174,095
Ensembl chr17:62,125,122...62,174,071
JBrowse link
G DMAP1 DNA methyltransferase 1 associated protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:167,083,053...167,091,654
Ensembl chr 6:167,082,849...167,091,630
JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chr17:62,754,630...62,780,470
Ensembl chr17:62,754,802...62,780,468
JBrowse link
G DNM1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,653,045...268,702,233
Ensembl chr 1:268,653,070...268,702,222
JBrowse link
G DOK4 docking protein 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,400,945...19,427,038
Ensembl chr 6:19,401,075...19,413,654
JBrowse link
G DOLK dolichol kinase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,257,386...269,259,484
Ensembl chr 1:269,257,540...269,259,156
JBrowse link
G DOLPP1 dolichyldiphosphatase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,374,707...269,383,939
Ensembl chr 1:269,374,933...269,384,344
JBrowse link
G DPH2 diphthamide biosynthesis 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 6:167,322,197...167,327,760
Ensembl chr 6:167,322,332...167,326,241
JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,420,273...268,423,557
Ensembl chr 1:268,418,445...268,423,552
JBrowse link
G DRC7 dynein regulatory complex subunit 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,603,413...19,629,175
Ensembl chr 6:19,603,399...19,629,172
JBrowse link
G DRD4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:398,766...401,539
Ensembl chr 2:398,766...402,433
JBrowse link
G DUSP8 dual specificity phosphatase 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:1,006,589...1,022,444
Ensembl chr 2:1,008,761...1,022,460
JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:22722545 PMID:24183449 PMID:24183451 PMID:28379358 PMID:28492532 More... NCBI chr 1:269,002,252...269,030,978
Ensembl chr 1:269,002,261...269,030,719
JBrowse link
G DYNLT4 dynein light chain Tctex-type 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:166,527,350...166,528,855
Ensembl chr 6:166,527,350...166,528,850
JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr17:62,517,811...62,526,379
Ensembl chr17:62,517,503...62,526,190
JBrowse link
G EIF2B3 eukaryotic translation initiation factor 2B subunit gamma ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:166,353,918...166,487,581
Ensembl chr 6:166,353,934...166,494,698
JBrowse link
G ELFN1 extracellular leucine rich repeat and fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Developmental and Epileptic Encephalopathy with Joint Laxity ClinVar PMID:24312227 PMID:34509675 NCBI chr 3:1,116,543...1,191,476
Ensembl chr 3:1,188,155...1,190,641
JBrowse link
G ENDOG endonuclease G ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,153,955...269,157,789
Ensembl chr 1:269,154,090...269,157,788
JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783
JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:435,257...452,630
Ensembl chr 2:433,649...452,630
JBrowse link
G ERI3 ERI1 exoribonuclease family member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:166,957,241...167,082,631
Ensembl chr 6:166,957,316...167,082,631
JBrowse link
G EXOSC2 exosome component 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:270,748,534...270,757,717
Ensembl chr 1:270,748,537...270,758,111
JBrowse link
G FAM78A family with sequence similarity 78 member A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:271,242,312...271,257,839
Ensembl chr 1:271,242,333...271,257,836
JBrowse link
G FGF10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509
JBrowse link
G FIBCD1 fibrinogen C domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:270,919,793...270,956,753
Ensembl chr 1:270,918,251...270,956,347
JBrowse link
G FNBP1 formin binding protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:270,042,367...270,180,212
Ensembl chr 1:270,042,369...270,180,188
JBrowse link
G FNDC11 fibronectin type III domain containing 11 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr17:62,558,294...62,559,961
Ensembl chr17:62,558,684...62,559,688
JBrowse link
G FPGS folylpolyglutamate synthase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,281,298...268,309,397
Ensembl chr 1:268,287,765...268,309,398
JBrowse link
G FUBP3 far upstream element binding protein 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:270,649,796...270,702,920
Ensembl chr 1:270,652,450...270,702,918
JBrowse link
G GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:29422393 NCBI chr 8:36,344,633...36,474,840
Ensembl chr 8:36,347,040...36,474,627
JBrowse link
G GALNT3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:72,276,502...72,343,524
Ensembl chr15:72,293,614...72,342,435
JBrowse link
G GARNL3 GTPase activating Rap/RanGAP domain like 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 1:267,772,408...267,922,731
Ensembl chr 1:267,772,347...267,923,390
JBrowse link
G GATA5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,824,891...61,834,742
Ensembl chr17:61,824,899...61,834,267
JBrowse link
G GATD1 glutamine amidotransferase class 1 domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:472,766...484,609
Ensembl chr 2:474,296...480,736
JBrowse link
G GFI1B growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:272,701,386...272,715,551
Ensembl chr 1:272,702,184...272,715,539
JBrowse link
G GHR growth hormone receptor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:27,126,300...27,422,618
Ensembl chr16:27,126,734...27,421,449
JBrowse link
G GID8 GID complex subunit 8 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,174,222...62,181,107
Ensembl chr17:62,174,231...62,181,107
JBrowse link
G GINS3 GINS complex subunit 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:20,162,264...20,170,385
Ensembl chr 6:20,162,636...20,170,258
JBrowse link
G GLE1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,894,281...268,922,752
Ensembl chr 1:268,894,276...268,922,742
JBrowse link
G GMEB2 glucocorticoid modulatory element binding protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr17:62,568,546...62,595,880
Ensembl chr17:62,568,549...62,584,820
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,246,471...32,253,162
Ensembl chr13:32,248,268...32,253,155
Ensembl chr13:32,248,268...32,253,155
JBrowse link
G GNAI2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,705,326...32,733,804
Ensembl chr13:32,705,321...32,733,794
JBrowse link
G GNAO1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:8521505 PMID:9108480 PMID:9536098 PMID:10419452 PMID:10615050 More... NCBI chr 6:29,416,574...29,592,874
Ensembl chr 6:29,417,603...29,592,706
JBrowse link
G GNAT1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,671,377...32,678,394
Ensembl chr13:32,671,432...32,678,391
JBrowse link
G GOLGA2 golgin A2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,702,823...268,721,174 JBrowse link
G GOT2 glutamic-oxaloacetic transaminase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:25741868 PMID:26518167 More... NCBI chr 6:20,407,203...20,431,849
Ensembl chr 6:20,407,200...20,432,067
JBrowse link
G GPBP1L1 GC-rich promoter binding protein 1 like 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:165,708,964...165,762,392
Ensembl chr 6:165,730,595...165,762,389
JBrowse link
G GPR107 G protein-coupled receptor 107 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:270,190,074...270,255,498
Ensembl chr 1:270,190,508...270,255,495
JBrowse link
G GTF3C4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:272,454,488...272,479,968
Ensembl chr 1:272,454,503...272,479,952
JBrowse link
G GTF3C5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:272,743,527...272,760,055 JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:17576681 PMID:17931874 PMID:20437590 PMID:22131395 More... NCBI chr16:29,439,294...29,808,855
Ensembl chr16:29,439,264...29,808,993
JBrowse link
G HECTD3 HECT domain E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:166,333,284...166,341,769
Ensembl chr 6:166,333,303...166,341,760
JBrowse link
G HELZ2 helicase with zinc finger 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr 6:59,916,378...59,932,537
Ensembl chr 6:59,919,847...59,932,546
JBrowse link
G HEMK1 HemK methyltransferase family member 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:33,047,040...33,058,079
Ensembl chr13:33,047,116...33,058,074
JBrowse link
G HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:18,901,171...18,913,427
Ensembl chr 6:18,901,297...18,913,424
JBrowse link
G HMCN2 hemicentin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:270,364,005...270,522,977
Ensembl chr 1:270,363,978...270,523,262
JBrowse link
G HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:27,936,225...27,957,261
Ensembl chr16:27,936,218...27,957,193
JBrowse link
G HPDL 4-hydroxyphenylpyruvate dioxygenase like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:166,012,590...166,015,051
Ensembl chr 6:166,012,601...166,014,323
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G HYAL1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,798,135...32,800,705
Ensembl chr13:32,797,681...32,800,793
JBrowse link
G HYAL1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,793,784...32,794,650
Ensembl chr13:32,793,572...32,794,700
JBrowse link
G HYAL2 hyaluronidase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,805,220...32,813,684
Ensembl chr13:32,805,227...32,815,333
JBrowse link
G HYAL3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,790,843...32,796,995
Ensembl chr13:32,790,850...32,796,563
JBrowse link
G IER5L immediate early response 5 like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,453,920...269,455,524
Ensembl chr 1:269,454,099...269,455,310
JBrowse link
G IFITM10 interferon induced transmembrane protein 10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:1,166,975...1,183,309
Ensembl chr 2:1,166,971...1,183,315
JBrowse link
G IFITM3 interferon induced transmembrane protein 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:128,658...129,736
Ensembl chr 2:127,152...129,835
JBrowse link
G IFITM5 interferon induced transmembrane protein 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:107,035...109,116
Ensembl chr 2:107,042...108,460
JBrowse link
G IFRD2 interferon related developmental regulator 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,756,671...32,790,763
Ensembl chr13:32,756,680...32,790,672
JBrowse link
G IGF2 insulin like growth factor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G INKA1 inka box actin regulator 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,329,872...32,332,167 JBrowse link
G INS insulin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
JBrowse link
G IP6K1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,253,515...32,320,005
Ensembl chr13:32,253,515...32,319,988
JBrowse link
G IPO13 importin 13 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 6:167,327,587...167,347,805
Ensembl chr 6:167,327,587...167,347,812
JBrowse link
G IPP intracisternal A particle-promoted polypeptide ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:165,671,053...165,702,078
Ensembl chr 6:165,671,174...165,709,775
JBrowse link
G IRF7 interferon regulatory factor 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:372,235...375,572
Ensembl chr 2:372,238...375,378
JBrowse link
G ITPA inosine triphosphatase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:26224535 NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,784
JBrowse link
G KATNB1 katanin regulatory subunit B1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,630,355...19,659,039
Ensembl chr 6:19,630,447...19,659,043
JBrowse link
G KCNA3 potassium voltage-gated channel subfamily A member 3 ISO ClinVar Annotator: match by term: KCNA3-associated developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:37964487 NCBI chr 4:109,495,220...109,498,548
Ensembl chr 4:109,495,350...109,497,116
JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:31600826 PMID:32954514 NCBI chr17:51,032,163...51,152,566
Ensembl chr17:51,039,987...51,142,644
JBrowse link
G KCNC2 potassium voltage-gated channel subfamily C member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar NCBI chr 5:38,326,408...38,535,826
Ensembl chr 5:38,326,414...38,533,110
JBrowse link
G KCNH5 potassium voltage-gated channel subfamily H member 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23647072 PMID:24133262 More... NCBI chr 1:194,965,696...195,264,046
Ensembl chr 1:194,966,334...195,259,068
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy
ClinVar PMID:2847176 PMID:3360469 PMID:4055306 PMID:9425895 PMID:9536098 More... NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,281...62,506,424
JBrowse link
G KIF2C kinesin family member 2C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:166,556,765...166,577,904
Ensembl chr 6:166,556,776...166,577,904
JBrowse link
G KIFC3 kinesin family member C3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,659,987...19,696,104
Ensembl chr 6:19,659,616...19,696,073
JBrowse link
G KLF17 KLF transcription factor 17 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:167,176,834...167,188,418
Ensembl chr 6:167,176,834...167,188,418
JBrowse link
G KYAT1 kynurenine aminotransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,172,628...269,209,553
Ensembl chr 1:269,172,628...269,209,478
JBrowse link
G LAMA5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,698,370...61,747,795
Ensembl chr17:61,697,517...61,747,955
JBrowse link
G LAMC3 laminin subunit gamma 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:271,004,423...271,071,223
Ensembl chr 1:271,004,433...271,071,223
JBrowse link
G LCN2 lipocalin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
JBrowse link
G LIME1 Lck interacting transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chr17:62,652,618...62,655,342
Ensembl chr17:62,652,996...62,655,336
JBrowse link
G LMNTD2 lamin tail domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:323,642...329,782
Ensembl chr 2:323,647...329,660
JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 1:267,207,273...267,290,862
Ensembl chr 1:267,207,419...267,287,729
JBrowse link
G LOC100511937 phosphatidylinositol 3-kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:165,268,260...165,402,668
Ensembl chr 6:165,268,568...165,402,649
JBrowse link
G LOC100517372 cytochrome b561 domain-containing protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24358150 PMID:25741868 More... NCBI chr13:32,834,206...32,837,007
Ensembl chr13:32,834,239...32,837,002
JBrowse link
G LOC102159152 mas-related G-protein coupled receptor member X2-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:2,329,261...2,330,710 JBrowse link
G LOC102161418 interferon-induced transmembrane protein 1-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:156,364...157,650 JBrowse link
G LOC102164011 DNA-directed RNA polymerases I, II, and III subunit RPABC5-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:109,821,516...109,823,848 JBrowse link
G LOC102166944 metallothionein-1E-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:18,660,665...18,662,000 JBrowse link
G LOC110261286 zinc finger protein 345-like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:56,774,611...56,788,040 JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699
JBrowse link
G LRRC8A leucine rich repeat containing 8 VRAC subunit A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,209,660...269,238,529
Ensembl chr 1:269,209,693...269,238,521
JBrowse link
G LRSAM1 leucine rich repeat and sterile alpha motif containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 1:267,964,875...268,008,833
Ensembl chr 1:267,964,928...268,008,825
JBrowse link
G LSMEM2 leucine rich single-pass membrane protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,752,515...32,757,042
Ensembl chr13:32,753,199...32,757,034
JBrowse link
G LSP1 lymphocyte specific protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:1,261,957...1,295,891
Ensembl chr 2:1,262,079...1,295,887
JBrowse link
G MAPKAPK3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:33,097,329...33,125,820
Ensembl chr13:33,097,393...33,125,818
JBrowse link
G MAST2 microtubule associated serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:165,406,876...165,620,029
Ensembl chr 6:165,406,878...165,619,933
JBrowse link
G MAST3 microtubule associated serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:34185323 NCBI chr 2:59,652,900...59,699,372
Ensembl chr 2:59,653,147...59,699,320
JBrowse link
G MED27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:271,724,910...271,928,367
Ensembl chr 1:271,724,910...271,928,367
JBrowse link
G MIGA2 mitoguardin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,334,938...269,363,938
Ensembl chr 1:269,334,838...269,363,936
JBrowse link
G MIR1 microRNA mir-1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,894,036...61,894,143
Ensembl chr17:61,894,036...61,894,143
JBrowse link
G MIR133A-1 microRNA mir-133a-1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,904,781...61,904,883
Ensembl chr17:61,904,781...61,904,883
JBrowse link
G MIR199B microRNA mir-199b ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,691,520...268,691,593
Ensembl chr 1:268,691,502...268,691,610
JBrowse link
G MIR219A microRNA mir-219a ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 7:25,250,839...25,250,921
Ensembl chr 7:25,250,839...25,250,921
JBrowse link
G MIR219B microRNA mir-219b ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:22368301 PMID:25658047 PMID:28492532 PMID:31332438 PMID:33206935 NCBI chr 1:268,816,967...268,817,050
Ensembl chr 1:268,816,961...268,817,057
JBrowse link
G MMACHC metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:165,860,888...165,865,674
Ensembl chr 6:165,860,785...165,865,642
JBrowse link
G MMP15 matrix metallopeptidase 15 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,890,867...19,912,941
Ensembl chr 6:19,891,107...19,912,913
JBrowse link
G MOB2 MOB kinase activator 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:959,203...993,674
Ensembl chr 2:958,904...971,402
JBrowse link
G MON1A MON1 homolog A, secretory trafficking associated ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,426,733...32,437,735
Ensembl chr13:32,426,736...32,437,862
JBrowse link
G MRGBP MRG domain binding protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,058,401...62,062,962
Ensembl chr17:62,058,424...62,062,960
JBrowse link
G MRGPRG MAS related GPR family member G ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:2,296,515...2,315,412 JBrowse link
G MRPL23 mitochondrial ribosomal protein L23 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:1,346,864...1,356,539 JBrowse link
G MRPS30 mitochondrial ribosomal protein S30 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:29,110,736...29,200,865
Ensembl chr16:29,111,950...29,126,348
JBrowse link
G MST1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,214,934...32,220,045
Ensembl chr13:32,214,937...32,219,902
JBrowse link
G MST1R macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,401,623...32,423,614
Ensembl chr13:32,409,555...32,421,920
JBrowse link
G MT-2B metallothionein-2A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:18,645,125...18,646,034
Ensembl chr 6:18,645,153...18,646,033
JBrowse link
G MT1A metallothionein 1A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:18,672,016...18,673,673
Ensembl chr 6:18,672,001...18,673,672
JBrowse link
G MT3 metallothionein 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:18,634,735...18,636,134
Ensembl chr 6:18,634,261...18,636,131
JBrowse link
G MT4 metallothionein 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:18,611,245...18,613,956
Ensembl chr 6:18,610,820...18,614,782
JBrowse link
G MUC2 mucin 2, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:689,363...719,542
Ensembl chr 2:689,364...710,330
JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:757,897...790,321 JBrowse link
G MUC5B mucin 5B, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:807,685...842,096 JBrowse link
G MUC6 mucin 6, oligomeric mucus/gel-forming ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:630,075...657,967
Ensembl chr 2:629,796...655,380
JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:166,002,853...166,012,191
Ensembl chr 6:166,003,351...166,012,190
JBrowse link
G NAIF1 nuclear apoptosis inducing factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,522,131...268,531,528 JBrowse link
G NAP1L4 nucleosome assembly protein 1 like 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:2,070,140...2,117,503
Ensembl chr 2:2,070,142...2,117,615
JBrowse link
G NASP nuclear autoantigenic sperm protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:165,773,964...165,804,978
Ensembl chr 6:165,770,055...165,805,383
JBrowse link
G NCS1 neuronal calcium sensor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:270,274,504...270,334,908
Ensembl chr 1:270,274,562...270,334,907
JBrowse link
G NDRG4 NDRG family member 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:20,222,876...20,265,581
Ensembl chr 6:20,223,667...20,265,576
JBrowse link
G NIBAN2 niban apoptosis regulator 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 1:268,010,297...268,066,022
Ensembl chr 1:268,010,297...268,065,930
JBrowse link
G NKAIN4 sodium/potassium transporting ATPase interacting 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,356,862...62,369,461
Ensembl chr17:62,356,422...62,380,859
JBrowse link
G NLRC5 NLR family CARD domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:18,933,179...19,036,288
Ensembl chr 6:18,937,677...19,036,820
JBrowse link
G NNT nicotinamide nucleotide transhydrogenase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:28,157,192...28,248,732
Ensembl chr16:28,157,318...28,250,961
JBrowse link
G NPRL2 NPR2 like, GATOR1 complex subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 PMID:30410802 NCBI chr13:32,830,895...32,834,205
Ensembl chr13:32,830,899...32,834,183
JBrowse link
G NTMT1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,819,774...269,828,832
Ensembl chr 1:269,819,753...269,828,831
JBrowse link
G NTNG2 netrin G2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:272,007,513...272,077,105
Ensembl chr 1:272,012,112...272,077,018
JBrowse link
G NTSR1 neurotensin receptor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,989,601...62,038,299
Ensembl chr17:61,989,402...62,033,548
JBrowse link
G NUDT21 nudix hydrolase 21 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:29,339,893...29,359,596
Ensembl chr 6:29,339,841...29,363,312
JBrowse link
G NUP188 nucleoporin 188 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,259,496...269,312,872
Ensembl chr 1:269,259,519...269,312,862
JBrowse link
G NUP214 nucleoporin 214 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:271,103,838...271,210,292
Ensembl chr 1:271,104,033...271,210,288
JBrowse link
G NUP93 nucleoporin 93 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:18,711,869...18,827,705
Ensembl chr 6:18,711,911...18,827,887
JBrowse link
G NUP98 nucleoporin 98 and 96 precursor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 9:6,319,616...6,419,652
Ensembl chr 9:6,319,650...6,419,660
JBrowse link
G ODF2 outer dense fiber of sperm tails 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,856,755...268,893,390
Ensembl chr 1:268,856,766...268,893,387
JBrowse link
G OGFOD1 2-oxoglutarate and iron dependent oxygenase domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:29,312,741...29,339,701
Ensembl chr 6:29,312,750...29,339,711
JBrowse link
G OGFR opioid growth factor receptor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,065,483...62,072,950
Ensembl chr17:62,065,456...62,072,950
JBrowse link
G OSBPL2 oxysterol binding protein like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,643,263...61,683,178
Ensembl chr17:61,643,377...61,685,819
JBrowse link
G OSBPL5 oxysterol binding protein like 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:2,201,615...2,261,946
Ensembl chr 2:2,201,385...2,261,927
JBrowse link
G PAIP1 poly(A) binding protein interacting protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:28,098,580...28,134,296
Ensembl chr16:28,098,581...28,133,788
JBrowse link
G PGAP2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 9:6,294,471...6,319,317
Ensembl chr 9:6,291,930...6,319,409
JBrowse link
G PHLDA2 pleckstrin homology like domain family A member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:2,057,679...2,058,675
Ensembl chr 2:2,057,681...2,058,694
JBrowse link
G PHRF1 PHD and ring finger domains 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:340,536...371,699
Ensembl chr 2:340,528...371,692
JBrowse link
G PHYHD1 phytanoyl-CoA dioxygenase domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,241,955...269,254,708
Ensembl chr 1:269,242,734...269,254,670
JBrowse link
G PIDD1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:499,294...505,740
Ensembl chr 2:499,303...504,871
JBrowse link
G PIGP phosphatidylinositol glycan anchor biosynthesis class P ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:28334793 PMID:28492532 PMID:31139695 PMID:32042915 NCBI chr13:200,686,716...200,695,537
Ensembl chr13:200,686,666...200,695,320
JBrowse link
G PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,409,113...268,417,580
Ensembl chr 1:268,408,448...268,417,944
JBrowse link
G PKN3 protein kinase N3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,069,088...269,081,334
Ensembl chr 1:269,070,512...269,081,334
JBrowse link
G PKP3 plakophilin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:214,238...222,762
Ensembl chr 2:214,170...223,511
JBrowse link
G PLK3 polo like kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:166,528,760...166,533,734
Ensembl chr 6:166,528,765...166,533,731
JBrowse link
G PLLP plasmolipin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,214,037...19,241,251
Ensembl chr 6:19,211,761...19,241,228
JBrowse link
G PLPP7 phospholipid phosphatase 7 (inactive) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:271,268,843...271,283,657
Ensembl chr 1:271,268,870...271,283,655
JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:513,065...517,962
Ensembl chr 2:513,077...518,182
JBrowse link
G POLR2C RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,393,569...19,401,119
Ensembl chr 6:19,393,597...19,401,116
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,452,461
JBrowse link
G PPDPF pancreatic progenitor cell differentiation and proliferation factor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr17:62,537,510...62,539,012 JBrowse link
G PRDM12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:270,723,880...270,739,468
Ensembl chr 1:270,723,681...270,739,468
JBrowse link
G PRDX1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:165,847,390...165,859,918
Ensembl chr 6:165,824,395...165,861,442
JBrowse link
G PRPF6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,815,509...62,857,795
Ensembl chr17:62,815,085...62,858,382
JBrowse link
G PRRC2B proline rich coiled-coil 2B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:271,336,780...271,430,936
Ensembl chr 1:271,336,818...271,430,916
JBrowse link
G PRRX2 paired related homeobox 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,853,134...269,902,808
Ensembl chr 1:269,853,200...269,903,469
JBrowse link
G PRSS54 serine protease 54 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:20,085,494...20,090,486
Ensembl chr 6:20,083,221...20,100,786
JBrowse link
G PSME3IP1 proteasome activator subunit 3 interacting protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,098,097...19,154,288
Ensembl chr 6:19,102,013...19,154,177
JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:166,491,649...166,513,137
Ensembl chr 6:166,495,763...166,512,648
JBrowse link
G PTDSS2 phosphatidylserine synthase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:256,753...280,803
Ensembl chr 2:256,895...280,797
JBrowse link
G PTGES prostaglandin E synthase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,911,785...269,924,481
Ensembl chr 1:269,911,789...269,924,462
JBrowse link
G PTGES2 prostaglandin E synthase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,585,725...268,591,356
Ensembl chr 1:268,583,439...268,590,855
JBrowse link
G PTK6 protein tyrosine kinase 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:17290276 PMID:19822871 PMID:20805988 PMID:23166088 More... NCBI chr17:62,538,853...62,547,866
Ensembl chr17:62,538,855...62,546,870
JBrowse link
G PTPA protein phosphatase 2 phosphatase activator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,401,776...269,431,465
Ensembl chr 1:269,401,514...269,431,462
JBrowse link
G PTRH1 peptidyl-tRNA hydrolase 1 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,213,685...268,215,498
Ensembl chr 1:268,213,687...268,215,523
JBrowse link
G QRFP pyroglutamylated RFamide peptide ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:270,909,323...270,917,674
Ensembl chr 1:270,911,878...270,912,282
JBrowse link
G RALGPS1 Ral GEF with PH domain and SH3 binding motif 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 1:267,437,066...267,770,444
Ensembl chr 1:267,480,750...267,770,440
JBrowse link
G RAPGEF1 Rap guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:271,494,243...271,624,609
Ensembl chr 1:271,494,248...271,600,920
JBrowse link
G RASSF1 Ras association domain family member 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,816,156...32,825,486
Ensembl chr13:32,816,156...32,825,226
JBrowse link
G RASSF7 Ras association domain family member 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:329,830...332,505
Ensembl chr 2:329,851...332,520
JBrowse link
G RBBP8NL RBBP8 N-terminal like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,778,579...61,794,258
Ensembl chr17:61,782,605...61,787,321
JBrowse link
G RBM5 RNA binding motif protein 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,579,780...32,612,716
Ensembl chr13:32,579,983...32,612,710
JBrowse link
G RBM6 RNA binding motif protein 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,444,944...32,569,818
Ensembl chr13:32,444,963...32,569,815
JBrowse link
G RHOG ras homolog family member G ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 9:6,283,558...6,295,376 JBrowse link
G RNF123 ring finger protein 123 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,216,761...32,250,742
Ensembl chr13:32,218,384...32,250,739
JBrowse link
G RNF220 ring finger protein 220 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:166,666,140...166,910,728
Ensembl chr 6:166,666,138...166,910,646
JBrowse link
G RNH1 ribonuclease/angiogenin inhibitor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:281,919...290,522
Ensembl chr 2:281,928...290,079
JBrowse link
G RPL12 ribosomal protein L12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 1:267,961,398...267,964,881
Ensembl chr 1:267,961,404...267,964,881
JBrowse link
G RPLP2 ribosomal protein lateral stalk subunit P2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:507,891...509,818
Ensembl chr 2:507,848...510,782
JBrowse link
G RPS21 ribosomal protein S21 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,763,606...61,764,823
Ensembl chr17:61,763,574...61,764,832
JBrowse link
G RPS8 ribosomal protein S8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:166,550,574...166,553,289
Ensembl chr 6:166,549,949...166,553,230
JBrowse link
G RSPRY1 ring finger and SPRY domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,154,413...19,204,827
Ensembl chr 6:19,154,417...19,204,826
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690
JBrowse link
G RYR3 ryanodine receptor 3 ISO ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 7:80,640,030...81,208,576
Ensembl chr 7:80,640,123...81,208,491
JBrowse link
G SAMD10 sterile alpha motif domain containing 10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,809,504...62,813,993
Ensembl chr17:62,809,504...62,813,991
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy
ClinVar PMID:1868258 PMID:1893099 PMID:9126059 PMID:9536098 PMID:9573403 More... NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:15048894 PMID:15133511 PMID:16865694 PMID:17021166 PMID:17347258 More... NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211
JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:10051516 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 More... NCBI chr15:71,717,330...71,824,190
Ensembl chr15:71,717,334...71,824,160
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy
ClinVar PMID:9536098 PMID:12374766 PMID:15525788 PMID:15800189 PMID:16199547 More... NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr15:72,745,706...72,912,352
Ensembl chr15:72,748,705...72,912,382
JBrowse link
G SCT secretin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:382,783...385,082
Ensembl chr 2:383,799...384,841
JBrowse link
G SELENOP selenoprotein P ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:27,537,885...27,547,863
Ensembl chr16:27,537,885...27,631,130
JBrowse link
G SEMA3B semaphorin 3B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,737,100...32,749,633
Ensembl chr13:32,740,802...32,749,621
JBrowse link
G SEMA3F semaphorin 3F ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,641,376...32,671,231
Ensembl chr13:32,641,424...32,671,223
JBrowse link
G SET SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,050,447...269,064,462 JBrowse link
G SETD6 SET domain containing 6, protein lysine methyltransferase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:20,266,540...20,270,709
Ensembl chr 6:20,266,552...20,274,658
JBrowse link
G SETX senataxin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:272,093,449...272,170,857
Ensembl chr 1:272,095,358...272,170,747
JBrowse link
G SH2D3C SH2 domain containing 3C ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,238,967...268,270,395
Ensembl chr 1:268,238,973...268,270,361
JBrowse link
G SH3GLB2 SH3 domain containing GRB2 like, endophilin B2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,313,788...269,332,351
Ensembl chr 1:269,312,825...269,332,344
JBrowse link
G SIGIRR single Ig and TIR domain containing ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:223,691...226,542
Ensembl chr 2:223,520...230,741
JBrowse link
G SLC12A3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:18,844,752...18,885,497
Ensembl chr 6:18,844,600...18,885,476
JBrowse link
G SLC17A9 solute carrier family 17 member 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,186,114...62,200,091
Ensembl chr17:62,186,112...62,200,084
JBrowse link
G SLC22A18 solute carrier family 22 member 18 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:2,032,370...2,055,756
Ensembl chr 2:2,028,396...2,055,750
JBrowse link
G SLC25A22 solute carrier family 25 member 22 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:15592994 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 2:491,288...498,773
Ensembl chr 2:491,293...498,767
JBrowse link
G SLC25A25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,531,752...268,575,195
Ensembl chr 1:268,531,752...268,576,994
JBrowse link
G SLC27A4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,773,792...268,788,208
Ensembl chr 1:268,773,806...268,788,731
JBrowse link
G SLC2A4RG SLC2A4 regulator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chr17:62,655,992...62,659,620
Ensembl chr17:62,657,566...62,659,615
JBrowse link
G SLC2A8 solute carrier family 2 member 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 1:267,925,184...267,934,096
Ensembl chr 1:267,925,193...267,937,038
JBrowse link
G SLC38A3 solute carrier family 38 member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,683,131...32,699,803
Ensembl chr13:32,683,126...32,704,535
JBrowse link
G SLC38A7 solute carrier family 38 member 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:20,387,113...20,401,733
Ensembl chr 6:20,337,137...20,401,684
JBrowse link
G SLC6A9 solute carrier family 6 member 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:23252400 PMID:28492532 PMID:31584066 NCBI chr 6:167,267,193...167,301,598
Ensembl chr 6:167,268,963...167,301,599
JBrowse link
G SLCO4A1 solute carrier organic anion transporter family member 4A1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:61,947,636...61,969,391
Ensembl chr17:61,947,628...61,969,970
JBrowse link
G SNAP25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:15044754 PMID:15834421 PMID:25381298 PMID:25741868 PMID:28492532 More... NCBI chr17:19,096,115...19,227,580
Ensembl chr17:19,141,464...19,227,576
JBrowse link
G SOX18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,869,868...62,871,758
Ensembl chr17:62,869,870...62,871,748
JBrowse link
G SPACA9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:272,625,701...272,635,406
Ensembl chr 1:272,625,712...272,636,346
JBrowse link
G SPMIP8 sperm microtubule inner protein 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,832,473...19,838,181
Ensembl chr 6:19,832,473...19,838,181
JBrowse link
G SPOUT1 SPOUT domain containing methyltransferase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,157,173...269,167,154
Ensembl chr 1:269,157,176...269,167,087
JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18469812 More... NCBI chr 1:268,936,120...269,002,261
Ensembl chr 1:268,936,025...269,002,256
JBrowse link
G SRMS src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr17:62,549,025...62,555,904
Ensembl chr17:62,548,182...62,556,975
JBrowse link
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19763152 More... NCBI chr 6:167,363,348...167,596,892
Ensembl chr 6:167,363,347...167,595,835
JBrowse link
G ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,391,851...268,402,449
Ensembl chr 1:268,391,855...268,402,407
JBrowse link
G ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,371,569...268,383,559 JBrowse link
G STIM1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 9:6,066,612...6,270,090
Ensembl chr 9:6,066,617...6,270,575
JBrowse link
G STMN3 stathmin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23453664 PMID:23692823 More... NCBI chr17:62,600,450...62,609,851
Ensembl chr17:62,600,455...62,609,018
JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Developmental and Epileptic Encephalopathy with Joint Laxity | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18469812 More... NCBI chr 1:268,116,124...268,205,805
Ensembl chr 1:268,116,120...268,205,778
JBrowse link
G SWI5 SWI5 homologous recombination repair protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,720,232...268,726,527
Ensembl chr 1:268,720,355...268,726,521
JBrowse link
G SYT8 synaptotagmin 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:1,245,988...1,250,422
Ensembl chr 2:1,247,878...1,250,437
JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:167,811,589...167,861,321
Ensembl chr 6:167,811,598...167,861,583
JBrowse link
G TALDO1 transaldolase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:464,781...472,836
Ensembl chr 2:464,728...472,835
JBrowse link
G TBC1D13 TBC1 domain family member 13 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,134,532...269,153,056
Ensembl chr 1:269,134,160...269,152,284
JBrowse link
G TCFL5 transcription factor like 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,093,906...62,115,669
Ensembl chr17:62,093,907...62,115,650
JBrowse link
G TESK2 testis associated actin remodelling kinase 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:165,874,176...166,000,002
Ensembl chr 6:165,874,180...165,999,999
JBrowse link
G TH tyrosine hydroxylase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,620...1,506,170
JBrowse link
G TMEM115 transmembrane protein 115 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 PMID:30410802 NCBI chr13:32,837,662...32,842,922
Ensembl chr13:32,837,667...32,842,959
JBrowse link
G TMEM267 transmembrane protein 267 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:28,027,401...28,060,633
Ensembl chr16:28,027,425...28,042,884
JBrowse link
G TMEM53 transmembrane protein 53 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:166,645,103...166,664,382
Ensembl chr 6:166,645,098...166,680,654
JBrowse link
G TMEM63B transmembrane protein 63B ISO ClinVar Annotator: match by term: TMEM63B-associated disorder ClinVar PMID:25741868 PMID:37421948 NCBI chr 7:39,137,684...39,165,093
Ensembl chr 7:39,138,431...39,165,077
JBrowse link
G TMEM69 transmembrane protein 69 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:165,704,599...165,708,983
Ensembl chr 6:165,704,617...165,709,964
JBrowse link
G TMEM80 transmembrane protein 80 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:428,297...433,533
Ensembl chr 2:428,303...433,528
JBrowse link
G TNFRSF6B TNF receptor superfamily member 6b ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chr17:62,635,024...62,637,520 JBrowse link
G TNK2 tyrosine kinase non receptor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:25741868 NCBI chr13:134,082,266...134,124,826
Ensembl chr13:134,101,377...134,124,824
JBrowse link
G TNNI2 troponin I2, fast skeletal type ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:1,251,566...1,253,883
Ensembl chr 2:1,251,527...1,253,893
JBrowse link
G TNNT3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:1,297,826...1,316,865
Ensembl chr 2:1,299,174...1,316,517
JBrowse link
G TOE1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:165,999,920...166,003,570
Ensembl chr 6:165,999,904...166,012,377
JBrowse link
G TOLLIP toll interacting protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:852,198...864,337
Ensembl chr 2:851,512...864,483
JBrowse link
G TOR1A torsin family 1 member A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,975,919...269,985,478
Ensembl chr 1:269,974,935...269,985,523
JBrowse link
G TOR1B torsin family 1 member B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,966,919...269,973,702
Ensembl chr 1:269,967,008...269,973,693
JBrowse link
G TOR2A torsin family 2 member A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,233,103...268,237,478
Ensembl chr 1:268,233,110...268,237,458
JBrowse link
G TPD52L2 TPD52 like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chr17:62,733,555...62,750,566
Ensembl chr17:62,733,593...62,750,557
JBrowse link
G TRAIP TRAF interacting protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,332,336...32,380,988
Ensembl chr13:32,345,599...32,379,766
JBrowse link
G TRPM5 transient receptor potential cation channel subfamily M member 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:1,646,597...1,664,935
Ensembl chr 2:1,647,160...1,664,933
JBrowse link
G TRUB2 TruB pseudouridine synthase family member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,745,815...268,757,771
Ensembl chr 1:268,746,329...268,757,494
JBrowse link
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,951
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,622...165,230,217
JBrowse link
G TSPAN32 tetraspanin 32 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:1,584,486...1,599,411
Ensembl chr 2:1,584,842...1,602,888
JBrowse link
G TSPAN4 tetraspanin 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:532,087...550,706
Ensembl chr 2:534,341...550,697
JBrowse link
G TSSC4 tumor suppressing subtransferable candidate 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 2:1,642,693...1,645,860
Ensembl chr 2:1,643,006...1,645,858
JBrowse link
G TTC16 tetratricopeptide repeat domain 16 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,215,559...268,233,175
Ensembl chr 1:268,215,850...268,233,173
JBrowse link
G TTC21B tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14738421 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 More... NCBI chr15:72,430,250...72,512,503
Ensembl chr15:72,430,726...72,512,491
JBrowse link
G TTF1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:272,180,488...272,212,504
Ensembl chr 1:272,180,498...272,212,478
JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24033266 PMID:25741868 PMID:27545674 PMID:27545681 PMID:27926783 More... NCBI chr13:73,831,485...73,859,781
Ensembl chr13:73,822,920...73,868,423
JBrowse link
G UBA7 ubiquitin like modifier activating enzyme 7 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 NCBI chr13:32,330,536...32,341,300
Ensembl chr13:32,332,367...32,341,217
JBrowse link
G UCK1 uridine-cytidine kinase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:271,448,362...271,453,811
Ensembl chr 1:271,448,365...271,453,816
JBrowse link
G UCKL1 uridine-cytidine kinase 1 like 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,785,419...62,796,396
Ensembl chr17:62,785,422...62,796,378
JBrowse link
G URM1 ubiquitin related modifier 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22368301 PMID:22722545 PMID:25658047 More... NCBI chr 1:268,798,439...268,815,553
Ensembl chr 1:268,798,462...268,815,530
JBrowse link
G UROD uroporphyrinogen decarboxylase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:166,327,243...166,330,558
Ensembl chr 6:166,327,247...166,330,614
JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,852,020...19,874,016
Ensembl chr 6:19,852,014...19,874,020
JBrowse link
G USP20 ubiquitin specific peptidase 20 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,995,532...270,037,499
Ensembl chr 1:269,995,520...270,086,780
JBrowse link
G YTHDF1 YTH N6-methyladenosine RNA binding protein F1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,329,302...62,341,312
Ensembl chr17:62,329,302...62,341,413
JBrowse link
G ZBTB34 zinc finger and BTB domain containing 34 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 1:267,436,988...267,465,619
Ensembl chr 1:267,436,990...267,465,619
JBrowse link
G ZBTB43 zinc finger and BTB domain containing 43 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 1:267,391,575...267,410,947
Ensembl chr 1:267,391,621...267,413,599
JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chr17:62,659,779...62,715,221
Ensembl chr17:62,659,786...62,709,235
JBrowse link
G ZDHHC12 zinc finger DHHC-type palmitoyltransferase 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,081,274...269,084,853
Ensembl chr 1:269,081,272...269,084,840
JBrowse link
G ZER1 zyg-11 related cell cycle regulator ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 1:269,088,696...269,121,895
Ensembl chr 1:269,090,159...269,108,256
JBrowse link
G ZGPAT zinc finger CCCH-type and G-patch domain containing ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:14534157 PMID:19822871 PMID:23360469 PMID:23692823 PMID:24811917 More... NCBI chr17:62,640,988...62,652,478
Ensembl chr17:62,635,018...62,652,483
JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24358150 PMID:28492532 PMID:30410802 NCBI chr13:32,825,398...32,830,037
Ensembl chr13:32,825,374...32,830,049
JBrowse link
G ZNF131 zinc finger protein 131 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr16:27,813,974...27,846,872
Ensembl chr16:27,813,997...27,846,942
JBrowse link
G ZNF319 zinc finger protein 319 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 More... NCBI chr 6:19,845,190...19,865,842
Ensembl chr 6:19,842,585...19,851,288
JBrowse link
G ZNF512B zinc finger protein 512B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059 NCBI chr17:62,796,583...62,807,340
Ensembl chr17:62,796,585...62,807,091
JBrowse link
G ZNF79 zinc finger protein 79 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:18469812 PMID:20887364 PMID:22722545 PMID:26384463 PMID:26514728 More... NCBI chr 1:267,941,953...267,959,754
Ensembl chr 1:267,942,101...267,966,192
JBrowse link
G ZSWIM5 zinc finger SWIM-type containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy ClinVar PMID:28492532 NCBI chr 6:166,138,127...166,326,002
Ensembl chr 6:166,138,170...166,325,988
JBrowse link
congenital disorder of glycosylation type IIm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP4 A-kinase anchoring protein 4 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:43,885,584...43,895,142
Ensembl chr  X:43,885,394...43,895,981
JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,078,202...42,090,250
Ensembl chr  X:42,078,206...42,090,250
JBrowse link
G BMP15 bone morphogenetic protein 15 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:44,613,122...44,620,575
Ensembl chr  X:44,613,122...44,620,575
JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,250,449...43,284,458
Ensembl chr  X:43,251,370...43,283,990
JBrowse link
G CCDC120 coiled-coil domain containing 120 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,128,938...43,146,777
Ensembl chr  X:43,134,275...43,146,775
JBrowse link
G CCDC22 coiled-coil domain containing 22 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,285,232...43,303,865
Ensembl chr  X:43,285,246...43,303,864
JBrowse link
G CCNB3 cyclin B3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:43,922,729...43,988,939
Ensembl chr  X:43,922,804...43,990,929
JBrowse link
G CDK16 cyclin dependent kinase 16 ISO ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:41,836,268...41,848,580
Ensembl chr  X:41,835,987...41,848,574
JBrowse link
G CFP complement factor properdin ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,145,754...42,152,879
Ensembl chr  X:42,143,697...42,152,868
JBrowse link
G CFP complement factor properdin ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,157,980...42,174,964
Ensembl chr  X:42,157,988...42,174,951
JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,628...43,811,526
JBrowse link
G DGKK diacylglycerol kinase kappa ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:44,001,172...44,180,142
Ensembl chr  X:44,001,176...44,180,179
JBrowse link
G EBP EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,670,592...42,678,571
Ensembl chr  X:42,670,633...42,678,570
JBrowse link
G ERAS ES cell expressed Ras ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,942,033...42,946,715
Ensembl chr  X:42,941,664...42,946,524
JBrowse link
G FOXP3 forkhead box P3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,303,777...43,328,164
Ensembl chr  X:43,303,785...43,322,968
JBrowse link
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,609,560...42,620,198
Ensembl chr  X:42,609,771...42,620,284
JBrowse link
G GATA1 GATA binding protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,898,431...42,905,939
Ensembl chr  X:42,898,442...42,905,976
JBrowse link
G GLOD5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,877,034...42,889,285
Ensembl chr  X:42,877,140...42,889,271
JBrowse link
G GPKOW G-patch domain and KOW motifs ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,177,264...43,192,021
Ensembl chr  X:43,177,272...43,191,830
JBrowse link
G GRIPAP1 GRIP1 associated protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,043,613...43,070,363
Ensembl chr  X:43,043,029...43,070,364
JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,964...42,941,887
JBrowse link
G KCND1 potassium voltage-gated channel subfamily D member 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,032,355...43,043,310
Ensembl chr  X:43,032,358...43,041,760
JBrowse link
G LOC100513450 P antigen family member 4 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,489,559...43,496,654
Ensembl chr  X:43,446,109...43,494,094
JBrowse link
G MAGIX MAGI family member, X-linked ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,206,680...43,212,889
Ensembl chr  X:43,207,062...43,211,635
JBrowse link
G MIR532 microRNA mir-532 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,705,258...43,705,337
Ensembl chr  X:43,705,258...43,705,337
JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:41,770,929...41,773,879
Ensembl chr  X:41,770,941...41,774,245
JBrowse link
G NUDT11 nudix hydrolase 11 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:44,912,160...44,918,977 JBrowse link
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,001,491...43,029,471
Ensembl chr  X:43,000,231...43,029,468
JBrowse link
G PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,947,688...42,952,222
Ensembl chr  X:42,947,692...42,949,024
JBrowse link
G PIM2 Pim-2 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,993,547...42,998,575
Ensembl chr  X:42,993,551...42,998,573
JBrowse link
G PLP2 proteolipid protein 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,215,372...43,218,318
Ensembl chr  X:43,215,283...43,218,316
JBrowse link
G PORCN porcupine O-acyltransferase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,653,696...42,669,526
Ensembl chr  X:42,653,789...42,669,517
JBrowse link
G PPP1R3F protein phosphatase 1 regulatory subunit 3F ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,328,199...43,344,503
Ensembl chr  X:43,328,274...43,344,013
JBrowse link
G PQBP1 polyglutamine binding protein 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,976,086...42,981,732
Ensembl chr  X:42,975,413...42,981,724
JBrowse link
G PRAF2 PRA1 domain family member 2 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,147,473...43,150,350 JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,218,271...43,230,368
Ensembl chr  X:43,218,277...43,230,367
JBrowse link
G RBM10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:41,773,232...41,803,656
Ensembl chr  X:41,773,232...41,803,653
JBrowse link
G RBM3 RNA binding motif protein 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,704,019...42,707,587
Ensembl chr  X:42,704,028...42,707,577
JBrowse link
G SHROOM4 shroom family member 4 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:44,301,956...44,543,969
Ensembl chr  X:44,332,620...44,543,337
JBrowse link
G SLC35A2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: CDG IIm | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG OMIM
ClinVar
PMID:23561849 PMID:24115232 PMID:25262651 PMID:25741868 PMID:25877686 More... NCBI chr  X:42,981,801...42,992,091
Ensembl chr  X:42,981,802...42,992,081
JBrowse link
G SLC38A5 solute carrier family 38 member 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,590,608...42,601,537
Ensembl chr  X:42,590,607...42,601,502
JBrowse link
G SPACA5 sperm acrosome associated 5 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,476,719...42,478,783
Ensembl chr  X:42,476,587...42,478,921
JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,797,309...42,811,457
Ensembl chr  X:42,797,828...42,811,461
JBrowse link
G SYN1 synapsin I ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,090,245...42,142,254
Ensembl chr  X:42,090,246...42,142,224
JBrowse link
G SYP synaptophysin ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,232,190...43,246,764
Ensembl chr  X:43,232,192...43,246,680
JBrowse link
G TBC1D25 TBC1 domain family member 25 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,682,267...42,696,579
Ensembl chr  X:42,682,269...42,696,574
JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,100,375...43,116,377
Ensembl chr  X:43,100,032...43,116,227
JBrowse link
G TIMM17B translocase of inner mitochondrial membrane 17B ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,970,586...42,976,287
Ensembl chr  X:42,970,108...42,975,955
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,296
JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:41,810,726...41,832,818
Ensembl chr  X:41,814,101...41,832,812
JBrowse link
G USP11 ubiquitin specific peptidase 11 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:41,851,534...41,866,357
Ensembl chr  X:41,851,602...41,866,355
JBrowse link
G USP27X ubiquitin specific peptidase 27 X-linked ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,553,454...43,557,247
Ensembl chr  X:43,555,005...43,556,321
JBrowse link
G UXT ubiquitously expressed prefoldin like chaperone ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,176,142...42,184,131
Ensembl chr  X:42,176,145...42,184,079
JBrowse link
G WAS WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,774,597...42,793,055
Ensembl chr  X:42,774,588...42,793,055
JBrowse link
G WDR13 WD repeat domain 13 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:42,715,097...42,730,200
Ensembl chr  X:42,722,730...42,730,199
JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 | ClinVar Annotator: match by term: SLC35A2-CDG ClinVar PMID:28492532 NCBI chr  X:43,150,691...43,155,981
Ensembl chr  X:43,147,477...43,156,234
JBrowse link
G ZNF157 zinc finger protein 157 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:41,905,319...41,921,484
Ensembl chr  X:41,905,226...41,920,880
JBrowse link
G ZNF182 zinc finger protein 182 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,444,227...42,473,308
Ensembl chr  X:42,444,230...42,473,285
JBrowse link
G ZNF41 zinc finger protein 41 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:41,931,036...41,984,439
Ensembl chr  X:41,934,977...41,984,595
JBrowse link
G ZNF630 zinc finger protein 630 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,518,203...42,540,677
Ensembl chr  X:42,518,211...42,540,232
JBrowse link
G ZNF81 zinc finger protein 81 ISO ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 22 ClinVar PMID:28492532 NCBI chr  X:42,246,548...42,372,191
Ensembl chr  X:42,246,751...42,468,024
JBrowse link
developmental and epileptic encephalopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,689,133...39,732,466
Ensembl chr 3:39,698,895...39,732,978
JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:23953072 PMID:25741868 PMID:28492532 NCBI chr 2:129,663,226...129,709,728
Ensembl chr 2:129,662,969...129,709,705
JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:91,644,586...91,708,695
Ensembl chr  X:91,650,858...91,708,689
JBrowse link
G AMDHD2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,523,076...39,532,590
Ensembl chr 3:39,522,163...39,532,995
JBrowse link
G ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:35638461 NCBI chr  X:50,159,912...50,578,020 JBrowse link
G ARX aristaless related homeobox ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome OMIM
ClinVar
PMID:2080994 PMID:3177452 PMID:5008734 PMID:8826464 PMID:9536098 More... NCBI chr  X:21,067,631...21,079,850
Ensembl chr  X:21,067,621...21,079,723
JBrowse link
G ATMIN ATM interactor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 6:7,209,512...7,223,195
Ensembl chr 6:7,208,158...7,223,155
JBrowse link
G ATP6V0C ATPase H+ transporting V0 subunit c ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,532,707...39,538,704 JBrowse link
G BCO1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 6:7,008,330...7,054,089
Ensembl chr 6:7,012,332...7,055,305
JBrowse link
G BICDL2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,153,521...39,161,415
Ensembl chr 3:39,153,552...39,161,442
JBrowse link
G BRICD5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,780,707...39,782,478
Ensembl chr 3:39,780,940...39,782,466
JBrowse link
G C6H16orf46 chromosome 6 C16orf46 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 6:7,189,026...7,208,669
Ensembl chr 6:7,189,556...7,207,357
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
JBrowse link
G CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:25741868 PMID:28492532 PMID:32461667 PMID:32820246 PMID:32960281 More... NCBI chr 3:111,887,017...111,914,511
Ensembl chr 3:111,887,020...111,914,492
JBrowse link
G CASKIN1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,794,400...39,811,381
Ensembl chr 3:39,794,293...39,811,009
JBrowse link
G CCNF cyclin F ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr 3:39,585,597...39,603,088
Ensembl chr 3:39,585,607...39,603,079
JBrowse link
G CDKL5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:14,858,826...15,096,969
Ensembl chr  X:14,952,225...15,078,855
JBrowse link
G CDYL2 chromodomain Y like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 6:7,420,477...7,707,446
Ensembl chr 6:7,420,790...7,604,947
JBrowse link
G CENPN centromere protein N ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 6:7,227,981...7,254,927
Ensembl chr 6:7,227,990...7,254,891
JBrowse link
G CFAP96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr15:46,470,680...46,612,173
Ensembl chr15:46,470,765...46,490,006
JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 7:85,980,759...86,107,886
Ensembl chr 7:85,983,837...86,106,938
JBrowse link
G CLDN6 claudin 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,168,506...39,172,631
Ensembl chr 3:39,167,853...39,172,628
JBrowse link
G CLDN9 claudin 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,172,731...39,181,827
Ensembl chr 3:39,172,853...39,174,354
JBrowse link
G CMC2 C-X9-C motif containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 6:7,254,937...7,278,714 JBrowse link
G CMIP c-Maf inducing protein ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 6:6,653,237...6,881,874
Ensembl chr 6:6,654,411...6,881,813
JBrowse link
G CSNK1E casein kinase 1 epsilon ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr 5:9,594,461...9,620,483
Ensembl chr 5:9,594,934...9,620,476
JBrowse link
G DNASE1L2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,757,725...39,761,497
Ensembl chr 3:39,757,296...39,761,080
JBrowse link
G DNM1 dynamin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:30097719 PMID:32909139 PMID:36413998 NCBI chr 1:268,653,045...268,702,233
Ensembl chr 1:268,653,070...268,702,222
JBrowse link
G DYNLRB2 dynein light chain roadblock-type 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 6:7,650,444...7,661,380
Ensembl chr 6:7,649,699...7,661,308
JBrowse link
G E4F1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,757,679...39,773,024
Ensembl chr 3:39,761,356...39,772,262
JBrowse link
G ECI1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,750,742...39,758,516
Ensembl chr 3:39,750,742...39,758,516
JBrowse link
G ELOB elongin B ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,294,099...39,298,192
Ensembl chr 3:39,293,746...39,298,097
JBrowse link
G EME2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:40,190,545...40,193,994
Ensembl chr 3:40,186,846...40,193,957
JBrowse link
G FAHD1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr14:121,538,308...121,539,037
Ensembl chr 3:40,141,132...40,141,806
JBrowse link
G FLYWCH1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,223,885...39,244,743
Ensembl chr 3:39,225,365...39,242,675
JBrowse link
G FLYWCH2 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,251,487...39,261,937
Ensembl chr 3:39,251,491...39,255,803
JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 1:140,566,443...140,906,516
Ensembl chr 1:140,566,540...140,905,623
JBrowse link
G GAN gigaxonin ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 6:6,921,446...6,989,670
Ensembl chr 6:6,933,503...6,989,653
JBrowse link
G GCSH glycine cleavage system protein H ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 6:7,171,186...7,184,732
Ensembl chr 6:7,171,192...7,184,729
JBrowse link
G GFER growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,981,938...39,984,451
Ensembl chr 3:39,981,940...39,984,991
JBrowse link
G GNAO1 G protein subunit alpha o1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 6:29,416,574...29,592,874
Ensembl chr 6:29,417,603...29,592,706
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:25741868 PMID:28492532
G HAGH hydroxyacylglutathione hydrolase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:40,139,099...40,162,921 JBrowse link
G HCFC1R1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,164,375...39,166,051
Ensembl chr 3:39,164,375...39,166,049
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24747641 NCBI chr16:29,439,294...29,808,855
Ensembl chr16:29,439,264...29,808,993
JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr10:17,475,266...17,497,060
Ensembl chr10:17,477,902...17,497,030
JBrowse link
G HS3ST6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:40,029,927...40,038,803
Ensembl chr 3:40,032,464...40,038,870
JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:40,173,595...40,177,789
Ensembl chr 3:40,174,764...40,177,784
JBrowse link
G ITPA inosine triphosphatase ISO ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy ClinVar PMID:26224535 PMID:28492532 NCBI chr17:32,458,351...32,474,827
Ensembl chr17:32,455,459...32,474,784
JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 More... NCBI chr 4:109,534,923...109,570,172
Ensembl chr 4:109,557,973...109,560,998
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:62,459,277...62,506,403
Ensembl chr17:62,459,281...62,506,424
JBrowse link
G KCTD5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,403,985...39,429,608
Ensembl chr 3:39,403,987...39,429,588
JBrowse link
G KREMEN2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,214,251...39,218,805
Ensembl chr 3:39,214,248...39,218,776
JBrowse link
G MAF MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:9536098 PMID:17576681 PMID:24369382 PMID:24456803 PMID:25411445 More... NCBI chr 6:8,468,736...8,910,012
Ensembl chr 6:8,468,413...8,485,030
JBrowse link
G MEIOB meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:40,092,689...40,133,173
Ensembl chr 3:40,092,732...40,133,171
JBrowse link
G MLST8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,778,746...39,786,206
Ensembl chr 3:39,778,754...39,788,285
JBrowse link
G MMP25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,129,452...39,143,621
Ensembl chr 3:39,130,777...39,142,303
JBrowse link
G MRPS34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:40,194,078...40,195,316
Ensembl chr 3:40,193,033...40,195,018
JBrowse link
G MSRB1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:40,017,161...40,021,736
Ensembl chr 3:40,017,194...40,028,047
JBrowse link
G NAPB NSF attachment protein beta ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:33189936 NCBI chr17:30,361,439...30,396,105
Ensembl chr17:30,359,420...30,396,083
JBrowse link
G NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:40,003,109...40,005,650
Ensembl chr 3:40,003,115...40,005,588
JBrowse link
G NHERF2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,942,366...39,952,824
Ensembl chr 3:39,942,367...39,952,825
JBrowse link
G NOXO1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,987,340...39,989,640
Ensembl chr 3:39,987,384...39,989,548
JBrowse link
G NPW neuropeptide W ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,957,042...39,957,792
Ensembl chr 3:39,957,042...39,957,792
JBrowse link
G NRXN2 neurexin 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar NCBI chr 2:7,454,771...7,554,180
Ensembl chr 2:7,478,750...7,515,943
JBrowse link
G NTHL1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,935,619...39,941,718
Ensembl chr 3:39,935,475...39,941,712
JBrowse link
G NTN3 netrin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,572,430...39,575,717
Ensembl chr 3:39,572,531...39,575,170
JBrowse link
G NUBP2 NUBP iron-sulfur cluster assembly factor 2, cytosolic ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:40,178,417...40,184,646
Ensembl chr 3:40,178,417...40,186,551
JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:20186691 PMID:23733235 PMID:25034272 PMID:25741868 PMID:26626314 More...
G PAQR4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,206,077...39,213,324 JBrowse link
G PCDH19 protocadherin 19 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr  X:82,031,365...82,153,159
Ensembl chr  X:82,036,199...82,151,652
JBrowse link
G PCYT1B phosphate cytidylyltransferase 1B, choline ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:20,605,769...20,743,081
Ensembl chr  X:20,605,945...20,743,134
JBrowse link
G PDK3 pyruvate dehydrogenase kinase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:20,486,205...20,598,492
Ensembl chr  X:20,486,341...20,602,664
JBrowse link
G PDPK1 3-phosphoinositide dependent protein kinase 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,429,928...39,512,623
Ensembl chr 3:39,432,058...39,512,601
JBrowse link
G PGP phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,776,815...39,779,669
Ensembl chr 3:39,762,608...39,778,011
JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,849,579...39,899,455
Ensembl chr 3:39,849,609...39,899,455
JBrowse link
G PKD1L2 polycystin 1 like 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 6:7,065,143...7,166,620
Ensembl chr 6:7,066,912...7,166,458
JBrowse link
G PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,201,819...39,209,261
Ensembl chr 3:39,201,878...39,210,125
JBrowse link
G PLCB1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr17:17,007,197...17,745,314
Ensembl chr17:17,007,261...17,745,313
JBrowse link
G PLCG2 phospholipase C gamma 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:31780880 NCBI chr 6:6,433,146...6,603,092
Ensembl chr 6:6,433,153...6,603,060
JBrowse link
G POLA1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:19439424 PMID:19738637 PMID:24643514 PMID:26337422 PMID:28492532 NCBI chr  X:20,756,674...21,064,265
Ensembl chr  X:20,756,725...21,062,175
JBrowse link
G PRSS21 serine protease 21 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,318,134...39,322,775
Ensembl chr 3:39,317,717...39,323,150
JBrowse link
G PRSS22 serine protease 22 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,365,798...39,376,909
Ensembl chr 3:39,365,803...39,380,476
JBrowse link
G PRSS27 serine protease 27 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,395,014...39,399,971
Ensembl chr 3:39,395,274...39,399,970
JBrowse link
G PRSS33 serine protease 33 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,301,919...39,304,996
Ensembl chr 3:39,302,369...39,307,433
JBrowse link
G RAB26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,831,981...39,837,510
Ensembl chr 3:39,831,981...39,837,515
JBrowse link
G REPS2 RALBP1 associated Eps domain containing 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr  X:13,413,362...13,658,907
Ensembl chr  X:13,412,838...13,658,902
JBrowse link
G RNF151 ring finger protein 151 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,997,651...40,000,782
Ensembl chr 3:39,997,647...39,999,748
JBrowse link
G RNPS1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,739,058...39,749,600
Ensembl chr 3:39,739,308...39,750,005
JBrowse link
G RPL3L ribosomal protein L3 like ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:40,004,907...40,016,702
Ensembl chr 3:40,007,868...40,016,699
JBrowse link
G RPS2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,996,179...40,003,110
Ensembl chr 3:40,001,326...40,003,107
JBrowse link
G RS1 retinoschisin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr  X:15,080,972...15,099,426
Ensembl chr  X:15,085,050...15,109,243
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome ClinVar PMID:11940708 PMID:12083760 PMID:16458823 PMID:17347258 PMID:18804930 More... NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543
JBrowse link
G SLC25A12 solute carrier family 25 member 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr15:77,895,935...78,021,930
Ensembl chr15:77,895,938...78,098,383
JBrowse link
G SPSB3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:40,184,534...40,190,519
Ensembl chr 3:40,185,014...40,190,518
JBrowse link
G SRRM2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 NCBI chr 3:39,275,274...39,293,741
Ensembl chr 3:39,275,288...39,293,747
JBrowse link
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 NCBI chr 6:167,363,348...167,596,892
Ensembl chr 6:167,363,347...167,595,835
JBrowse link
G SYNGR3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,975,067...39,981,537
Ensembl chr 3:39,975,069...39,979,217
JBrowse link
G SYNJ1 synaptojanin 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:196,230,101...196,330,512
Ensembl chr13:196,230,104...196,330,384
JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:167,811,589...167,861,321
Ensembl chr 6:167,811,598...167,861,583
JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 | ClinVar Annotator: match by term: X-linked infantile 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 Annotator: match by term: X-linked infantile spasms
ClinVar PMID:1029242 PMID:3402014 PMID:9536098 PMID:10574461 PMID:10741954 More... NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
JBrowse link
G TBL3 transducin beta like 3 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 ClinVar PMID:28492532 PMID:30866059 NCBI chr 3:39,989,739...39,996,138
Ensembl chr 3:39,989,740...39,995,123
JBrowse link
G TE