idiopathic generalized epilepsy - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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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:	idiopathic generalized epilepsy	go back to main search page
Accession:	DOID:1827	browse the term
Definition:	An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. (DO)
Synonyms:	exact_synonym:	EIG; EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10; generalised epilepsy
	narrow_synonym:	EIG1
	related_synonym:	IGE EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 1; idiopathic generalized epilepsy, susceptibility to, 1
	primary_id:	MESH:C562694
	alt_id:	OMIM:600669
	xref:	NCI:C3021; OMIM:PS600669
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (258)

idiopathic generalized epilepsy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily A member 3

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,132,435...1,196,226
Ensembl chr16:2,376,006...2,437,427

G

ATP binding cassette subfamily B member 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238

G

adenylate cyclase 9

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,882,687...3,034,275
Ensembl chr16:4,059,736...4,207,430

G

adhesion G protein-coupled receptor V1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

PMID:22135276 PMID:24033266 PMID:24123792 PMID:25741868 PMID:28492532 More...

NCBI chr 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477

G

amidohydrolase domain containing 2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,376,904...1,387,883
Ensembl chr16:2,619,320...2,630,375

G

ankyrin repeat domain 65

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:174,353...177,846

G

ankyrin repeat and sterile alpha motif domain containing 3

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,621,185...3,659,570
Ensembl chr16:4,788,093...4,820,760

G

adenine nucleotide translocase lysine methyltransferase

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:733,726...735,794

G

Rho GDP dissociation inhibitor gamma

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:271,739...273,605

G

ADP ribosylation factor like GTPase 5A

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr2B:39,092,366...39,133,505
Ensembl chr2B:156,344,048...156,368,974

G

ATPase family AAA domain containing 3C

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:209,176...227,683
Ensembl chr 1:1,407,391...1,425,563

G

ATPase H+ transporting V0 subunit c

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,370,460...1,376,775
Ensembl chr16:2,613,096...2,619,204

G

aurora kinase A interacting protein 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:129,234...130,866
Ensembl chr 1:1,329,414...1,331,203

G

axin 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:278,239...337,891

G

BAI1 associated protein 3

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:1,390,160...1,403,978

G

BICD family like cargo adaptor 2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,969,559...2,000,362
Ensembl chr16:3,141,805...3,169,873

G

BRICHOS domain containing 5

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,067,543...1,069,836
Ensembl chr16:2,310,660...2,312,995

G

chromosome 18 C16orf90 homolog

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,415,638...2,419,093

G

chromosome 18 C16orf96 homolog

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,482,575...3,526,672
Ensembl chr16:4,650,245...4,693,964

G

C1q and TNF related 8

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:1,095,896...1,097,260

G

calcium voltage-gated channel subunit alpha1 H

ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy

PMID:9536098 PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 More...

Ensembl chr16:1,195,364...1,222,917

G

calcium voltage-gated channel auxiliary subunit beta 4

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

PMID:9536098 PMID:10762541 PMID:17576681 PMID:18755274 PMID:25741868 More...

NCBI chr2B:39,137,777...39,399,007
Ensembl chr2B:156,379,469...156,639,328

G

calmodulin like 6

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:619,689...623,308
Ensembl chr 1:1,778,101...1,780,581

G

calpain 15

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:562,174...569,436

G

CASK interacting protein 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,035,826...1,055,005

G

calcium sensing receptor

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

PMID:25741868 PMID:28492532

NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268

G

coiled-coil domain containing 154

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:54,158...64,522
Ensembl chr16:1,488,750...1,498,293

G

coiled-coil domain containing 78

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:735,974...739,572

G

cyclin F

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,285,379...1,314,972
Ensembl chr16:2,529,371...2,556,438

G

cyclin L2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:142,530...155,377
Ensembl chr 1:1,344,346...1,355,361

G

cell death inducing p53 target 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,437,414...3,464,989
Ensembl chr16:4,604,954...4,632,724

G

cyclin dependent kinase 11B

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:399,997...423,094
Ensembl chr 1:1,558,423...1,579,305

G

cementum protein 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

G

cilia and flagella associated protein 74

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:627,950...715,982
Ensembl chr 1:1,785,550...1,856,062

G

chromosome transmission fidelity factor 18

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:803,340...813,170

G

cytosolic iron-sulfur assembly component 3

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:742,818...754,087

G

ciliogenesis associated kinase 1

ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 10 | ClinVar Annotator: match by term: Idiopathic generalized epilepsy

PMID:25741868 PMID:28492532 PMID:29539279 PMID:32178256

NCBI chr 6:52,556,272...52,617,199
Ensembl chr 6:54,198,594...54,255,435

G

chloride voltage-gated channel 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:181,383,608...181,399,200
Ensembl chr 3:189,862,489...189,881,049

G

chloride voltage-gated channel 7

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:64,599...95,016
Ensembl chr16:1,498,432...1,519,951

G

claudin 6

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,956,556...1,960,177

G

claudin 9

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,953,439...1,956,349
Ensembl chr16:3,127,610...3,128,263

G

clusterin associated protein 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,423,563...2,461,486
Ensembl chr16:3,600,370...3,637,622

G

coronin 7

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,281,481...3,342,937
Ensembl chr16:4,418,006...4,515,038

G

ceramide-1-phosphate transfer protein

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:81,942...86,035
Ensembl chr 1:1,281,979...1,285,620

G

cramped chromatin regulator homolog 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:233,377...299,494
Ensembl chr16:1,666,559...1,726,437

G

CREB binding protein

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206

G

2,4-dienoyl-CoA reductase 2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:395,158...405,928

G

dynein axonemal assembly factor 8

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,659,525...3,674,557
Ensembl chr16:4,825,030...4,840,117

G

DnaJ heat shock protein family (Hsp40) member A3

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,351,825...3,381,914
Ensembl chr16:4,519,965...4,550,786

G

deoxyribonuclease 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,532,281...2,583,408
Ensembl chr16:3,708,189...3,758,615

G

deoxyribonuclease 1 like 2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,093,669...1,096,123
Ensembl chr16:2,336,768...2,338,391

G

dynamin 1

OMIM:600669 | OMIM:604827 | OMIM:606972 | OMIM:607628 | OMIM:607682 | OMIM:608762 | OMIM:609750 | OMIM:611136 | OMIM:611934 | OMIM:612899 | OMIM:613060 | OMIM:614847 | OMIM:616685

NCBI chr 9:99,324,385...99,376,262
Ensembl chr 9:128,004,508...128,044,690

G

dishevelled segment polarity protein 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:92,469...106,748
Ensembl chr 1:1,292,052...1,301,008

G

E4F transcription factor 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,080,205...1,092,996
Ensembl chr16:2,323,461...2,335,695

G

enoyl-CoA delta isomerase 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,097,165...1,108,726
Ensembl chr16:2,339,864...2,351,385

G

elongin B

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,631,179...1,637,114

G

essential meiotic structure-specific endonuclease subunit 2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:395,571...403,233
Ensembl chr16:1,825,622...1,829,557

G

FA core complex associated protein 20

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:900,616...922,845

G

family with sequence similarity 234 member A

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:238,198...259,698

G

F-box and leucine rich repeat protein 16

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:708,401...711,626

G

FLYWCH-type zinc finger 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,827,105...1,892,885
Ensembl chr16:3,027,656...3,064,557

G

FLYWCH family member 2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,826,987...1,843,208
Ensembl chr16:2,998,744...3,014,664

G

fibronectin type III domain containing 10

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:359,080...361,223

G

gamma-aminobutyric acid type A receptor subunit alpha1

ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy

PMID:9536098 PMID:16199547 PMID:16530959 PMID:16569738 PMID:16718694 More...

NCBI chr 5:157,234,725...157,287,475
Ensembl chr 5:163,928,392...163,981,117

G

gamma-aminobutyric acid type A receptor subunit alpha6

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

PMID:16718694 PMID:22190369 PMID:24811917 PMID:28492532

NCBI chr 5:157,072,915...157,089,994
Ensembl chr 5:163,767,304...163,784,331

G

gamma-aminobutyric acid type A receptor subunit beta2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

PMID:16718694 PMID:22190369 PMID:24811917 PMID:28492532

NCBI chr 5:156,678,750...156,937,614
Ensembl chr 5:163,374,346...163,632,301

G

gamma-aminobutyric acid type A receptor subunit delta

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

PMID:9536098 PMID:15115768 PMID:16023832 PMID:16199547 PMID:16256272 More...

NCBI chr 1:731,714...743,165
Ensembl chr 1:1,883,955...1,895,102

G

gamma-aminobutyric acid type A receptor subunit gamma2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

PMID:16718694 PMID:22190369 PMID:24811917 PMID:28492532

NCBI chr 5:157,436,113...157,529,586
Ensembl chr 5:164,068,122...164,222,179

G

growth factor, augmenter of liver regeneration

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:716,640...720,196
Ensembl chr16:2,073,064...2,076,592

G

GLIS family zinc finger 2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,234,549...3,257,994
Ensembl chr16:4,418,524...4,425,631

G

G protein subunit beta 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614

G

G protein subunit gamma 13

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:813,363...813,721

G

N-acetylglucosamine-1-phosphate transferase subunit gamma

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:1,407,385...1,418,523

G

hydroxyacylglutathione hydrolase like

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:740,574...742,521

G

host cell factor C1 regulator 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,964,465...1,966,126
Ensembl chr16:3,136,818...3,138,484

G

heme oxygenase 2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,399,715...3,436,018
Ensembl chr16:4,567,828...4,604,596

G

heparan sulfate-glucosamine 3-sulfotransferase 6

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:789,542...796,792
Ensembl chr16:1,994,864...2,001,615

G

intraflagellar transport 140

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884

G

insulin like growth factor binding protein acid labile subunit

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:412,671...418,351
Ensembl chr16:1,843,979...1,848,442

G

interleukin 32

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929

G

integrator complex subunit 11

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:66,280...81,854
Ensembl chr 1:1,266,581...1,281,430

G

jumonji domain containing 8

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:696,710...698,767

G

Jupiter microtubule associated homolog 2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:299,835...323,210
Ensembl chr16:1,733,188...1,754,175

G

potassium voltage-gated channel interacting protein 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 5:165,711,110...166,095,049
Ensembl chr 5:172,622,331...172,853,992

G

potassium channel tetramerization domain containing 5

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,542,488...1,569,044
Ensembl chr16:2,796,117...2,822,819

G

kringle containing transmembrane protein 2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,905,397...1,910,249
Ensembl chr16:3,078,086...3,082,325

G

lipase maturation factor 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:869,449...973,456

G

ATPase family AAA domain-containing protein 3B

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:230,464...269,069

G

meiosis specific with OB-fold

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:835,420...874,178

G

acylpyruvase FAHD1, mitochondrial

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:449,359...451,070

G

ras-related protein Rab-26

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,006,847...1,012,263

G

tryptase beta-2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

G

olfactory receptor 1F1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,146,425...2,148,139

G

ubiquinol-cytochrome c reductase complex assembly factor 4

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:39,543...41,134
Ensembl chr16:1,474,158...1,475,201

G

hydroxyacylglutathione hydrolase, mitochondrial

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:431,417...455,211

G

LUC7 like

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:177,857...217,519

G

mitogen-activated protein kinase 8 interacting protein 3

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:327,995...392,691
Ensembl chr16:1,759,171...1,821,246

G

MAPK regulated corepressor interacting protein 2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

G

MEFV innate immunity regulator, pyrin

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970

G

meteorin, glial cell differentiation regulator

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:728,365...730,423

G

methyltransferase like 26

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

G

mahogunin ring finger 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,550,352...3,615,693
Ensembl chr16:4,740,763...4,782,638

G

MIB E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:379,326...395,041
Ensembl chr 1:1,539,634...1,557,517

G

MTOR associated protein, LST8 homolog

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,063,534...1,067,706
Ensembl chr16:2,306,451...2,310,828

G

matrix metallopeptidase 23B

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:396,629...399,103
Ensembl chr 1:1,554,922...1,557,325

G

matrix metallopeptidase 25

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,988,340...2,002,417

G

MORN repeat containing 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:1,040,735...1,109,847
Ensembl chr 1:2,185,815...2,257,031

G

mitochondrial ribosomal protein L20

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:157,984...163,411
Ensembl chr 1:1,358,009...1,363,014

G

mitochondrial ribosomal protein L28

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:358,376...361,460

G

mitochondrial ribosomal protein S34

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:394,257...395,564
Ensembl chr16:1,824,282...1,825,558

G

mesothelin

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:777,146...783,449

G

methionine sulfoxide reductase B1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:761,003...766,102
Ensembl chr16:2,028,487...2,032,636

G

matrix remodeling associated 8

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:109,071...117,378

G

N-alpha-acetyltransferase 60, NatF catalytic subunit

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,366,988...2,409,598
Ensembl chr16:3,543,418...3,586,299

G

NAD kinase

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:462,860...485,203
Ensembl chr 1:1,619,270...1,642,269

G

NADH:ubiquinone oxidoreductase subunit B10

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:742,402...744,850
Ensembl chr16:2,048,550...2,051,005

G

nebulin

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr2B:38,796,991...39,038,824

G

NHERF family PDZ scaffold protein 2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:664,310...676,640
Ensembl chr16:2,115,583...2,127,069

G

NHL repeat containing 4

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:585,107...585,478

G

NLR family CARD domain containing 3

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,463,940...2,487,961
Ensembl chr16:3,637,612...3,674,088

G

NME/NM23 nucleoside diphosphate kinase 3

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:392,694...394,106
Ensembl chr16:1,822,719...1,824,147

G

NME/NM23 nucleoside diphosphate kinase 4

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:389,068...393,976

G

NmrA like redox sensor 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,386,842...3,399,729

G

NADPH oxidase organizer 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:720,087...725,567

G

neuropeptide W

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:682,746...684,569

G

nth like DNA glycosylase 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:655,433...663,521
Ensembl chr16:2,127,858...2,135,656

G

netrin 3

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,323,148...1,330,713
Ensembl chr16:2,571,072...2,573,173

G

NUBP iron-sulfur cluster assembly factor 2, cytosolic

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:405,264...411,626

G

nudix hydrolase 16 like 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,615,841...3,620,526
Ensembl chr16:4,785,358...4,786,775

G

presequence translocase associated motor 16

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,243,435...3,248,815
Ensembl chr16:4,418,006...4,515,038

G

progestin and adipoQ receptor family member 4

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,911,141...1,915,334
Ensembl chr16:3,083,173...3,087,411

G

protein disulfide isomerase family A member 2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:273,764...277,914

G

3-phosphoinositide dependent protein kinase 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,394,447...1,463,735

G

peroxisomal biogenesis factor 10

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr 1:2,270,698...2,278,401

G

post-GPI attachment to proteins 6

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:361,783...378,207

G

phosphoglycolate phosphatase

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,070,291...1,073,123

G

phosphatidylinositol glycan anchor biosynthesis class Q

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:585,901...600,482

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:604,366...605,560

G

protein kinase, membrane associated tyrosine/threonine 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,914,651...1,946,407
Ensembl chr16:3,082,265...3,094,477

G

protein kinase C zeta

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:763,942...901,531
Ensembl chr 1:1,920,219...2,045,855

G

proline rich 35

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:578,368...582,537

G

serine protease 21

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,721,788...1,726,871

G

serine protease 22

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,790,787...1,797,025

G

serine protease 27

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,572,545...1,581,422
Ensembl chr16:2,826,571...2,834,700

G

serine protease 41

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,705,001...1,710,776

G

pentraxin 4

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:105,005...113,730
Ensembl chr16:1,540,411...1,543,413

G

RAB11 family interacting protein 3

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

G

RAB40C, member RAS oncogene family

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:606,023...640,714

G

RNA binding fox-1 homolog 1

ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy

PMID:9536098 PMID:16199547 PMID:17576681 PMID:23286373 PMID:24039908 More...

NCBI chr16:4,162,659...6,640,962
Ensembl chr16:5,418,607...7,889,215

G

RNA binding fox-1 homolog 3

ClinVar Annotator: match by term: EIG | ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy

PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532

NCBI chr17:73,163,818...73,690,675
Ensembl chr17:78,711,056...78,732,131

G

retention in endoplasmic reticulum sorting receptor 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr 1:2,257,091...2,271,311

G

regulator of G protein signaling 11

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:259,143...266,520

G

rhomboid like 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:690,053...692,580

G

ras homolog family member T2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:682,588...687,861

G

ring finger protein 151

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:735,302...737,776
Ensembl chr16:2,055,918...2,057,965

G

RNA binding protein with serine rich domain 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,110,249...1,124,975

G

rogdi atypical leucine zipper

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,721,063...3,727,056
Ensembl chr16:4,887,051...4,892,607

G

ribosomal protein L3 like

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:749,186...760,331
Ensembl chr16:2,033,466...2,043,719

G

ribosomal protein S2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:739,562...742,323
Ensembl chr16:2,051,128...2,054,086

G

RNA pseudouridine synthase domain containing 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:800,191...806,007

G

septin 12

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,701,796...3,713,170
Ensembl chr16:4,867,217...4,877,772

G

SKI proto-oncogene

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:944,428...1,029,695
Ensembl chr 1:2,091,620...2,174,080

G

solute carrier family 12 member 5

CTD Direct Evidence: marker/mechanism

NCBI chr20:42,359,005...42,397,412
Ensembl chr20:43,445,182...43,483,132

G

solute carrier family 35 member E2B

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:429,954...458,052
Ensembl chr 1:1,581,352...1,613,835

G

SLX4 structure-specific endonuclease subunit

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,502,334...2,532,172
Ensembl chr16:3,678,018...3,707,842

G

small integral membrane protein 22

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,719,356...3,720,380
Ensembl chr16:4,884,977...4,885,869

G

SRY-box transcription factor 8

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

G

splA/ryanodine receptor domain and SOCS box containing 3

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:399,090...405,020
Ensembl chr16:1,830,040...1,835,504

G

sarcalumenin

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,107,619...3,161,180

G

serine/arginine repetitive matrix 2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,612,386...1,631,177
Ensembl chr16:2,865,810...2,884,902

G

somatostatin receptor 5

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

G

SSU72 homolog, RNA polymerase II CTD phosphatase

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:301,984...335,634
Ensembl chr 1:1,463,184...1,494,797

G

STIP1 homology and U-box containing protein 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:694,414...696,682

G

synaptogyrin 3

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:710,090...714,421
Ensembl chr16:2,078,645...2,083,100

G

taste 1 receptor member 3

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:88,514...92,505
Ensembl chr 1:1,287,841...1,292,094

G

TBC1 domain family member 24

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912

G

transducin beta like 3

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:725,629...732,350
Ensembl chr16:2,061,199...2,067,715

G

tubulin epsilon and delta complex 2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,316,181...1,321,075
Ensembl chr16:2,559,493...2,564,370

G

telomere maintenance 2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:112,856...130,175
Ensembl chr16:1,548,212...1,566,337

G

transcription factor AP-4

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,176,129...3,226,404
Ensembl chr16:4,348,929...4,368,525

G

THO complex subunit 6

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,965,875...1,969,595
Ensembl chr16:3,138,229...3,141,876

G

tigger transposable element derived 7

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,229,601...2,236,195
Ensembl chr16:3,408,055...3,409,704

G

transmembrane protein 204

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:152,459...178,785
Ensembl chr16:1,588,454...1,609,649

G

transmembrane protein 240

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:295,102...301,161
Ensembl chr 1:1,456,731...1,462,005

G

transmembrane protein 52

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:623,603...626,169
Ensembl chr 1:1,780,877...1,782,570

G

transmembrane protein 88B

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:181,849...185,020

G

TNF receptor superfamily member 12A

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,962,179...1,964,223
Ensembl chr16:3,134,577...3,136,581

G

tryptase gamma 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:1,222,933...1,226,415

G

TNF receptor associated factor 7

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031

G

TNF receptor associated protein 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,578,483...2,637,996
Ensembl chr16:3,753,799...3,786,429

G

TSC complex subunit 2

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

G

TSR3 ribosome maturation factor

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:1,404,927...1,411,747

G

UBA like domain containing 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,534,422...3,540,533

G

ubiquitin conjugating enzyme E2 I

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:1,367,288...1,382,575

G

unk like zinc finger

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:11,145...39,682
Ensembl chr16:1,418,377...1,457,134

G

vasorin

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,298,836...3,310,548
Ensembl chr16:4,475,506...4,477,527

G

von Willebrand factor A domain containing 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr 1:192,970...198,099

G

WD repeat domain 24

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:699,142...704,869

G

WD repeat domain 90

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

Ensembl chr16:661,264...681,977

G

WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

G

zymogen granule protein 16B

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:1,735,300...1,737,405

G

zinc finger protein 174

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,324,551...2,332,736
Ensembl chr16:3,501,164...3,509,258

G

zinc finger protein 200

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,156,798...2,170,324
Ensembl chr16:3,335,173...3,348,267

G

zinc finger protein 205

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,054,056...2,061,992
Ensembl chr16:3,233,794...3,241,216

G

zinc finger protein 213

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,076,602...2,084,462
Ensembl chr16:3,255,435...3,263,132

G

zinc finger protein 263

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,217,739...2,232,168
Ensembl chr16:3,395,542...3,404,081

G

zinc finger protein 500

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:3,673,146...3,692,219
Ensembl chr16:4,839,112...4,857,595

G

zinc finger protein 597

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,355,696...2,366,850
Ensembl chr16:3,532,027...3,543,377

G

zinc finger protein 598, E3 ubiquitin ligase

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:694,562...706,711
Ensembl chr16:2,086,844...2,092,277

G

zinc finger protein 75A

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,236,181...2,249,744
Ensembl chr16:3,414,573...3,427,890

G

zinc finger and SCAN domain containing 10

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,030,450...2,040,879
Ensembl chr16:3,210,420...3,220,381

G

zinc finger and SCAN domain containing 32

ClinVar Annotator: match by term: Idiopathic generalized epilepsy

NCBI chr16:2,305,447...2,324,380
Ensembl chr16:3,482,908...3,497,610

Childhood Absence Epilepsy 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel subunit alpha1 H

ClinVar Annotator: match by term: Epilepsy, childhood absence 6 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 6 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 6

PMID:9536098 PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 More...

Ensembl chr16:1,195,364...1,222,917

generalized epilepsy with febrile seizures plus

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anoctamin 4

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus

NCBI chr12:98,295,875...98,709,918
Ensembl chr12:101,885,088...102,111,806

G

gamma-aminobutyric acid type A receptor subunit gamma2

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus

NCBI chr 5:157,436,113...157,529,586
Ensembl chr 5:164,068,122...164,222,179

G

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus

PMID:24337656 PMID:25741868 PMID:26467025 PMID:27781031 PMID:28492532 More...

NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014

G

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus

PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 More...

NCBI chr19:31,974,499...31,984,488
Ensembl chr19:40,711,281...40,724,052

G

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus

NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509

G

sodium voltage-gated channel alpha subunit 9

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus

PMID:20478850 PMID:21698661 PMID:25741868 PMID:26467025 PMID:28492532 More...

NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013

G

solute carrier family 32 member 1

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus

PMID:28842445 PMID:34038384

NCBI chr20:35,049,115...35,054,347
Ensembl chr20:36,157,265...36,162,426

G

syntaxin 1B

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus

NCBI chr16:23,956,426...23,979,646
Ensembl chr16:31,356,907...31,378,870

generalized epilepsy with febrile seizures plus 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1

PMID:9126059 PMID:10521305 PMID:10742094 PMID:11254444 PMID:11254445 More...

NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014

G

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1

PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 More...

NCBI chr19:31,974,499...31,984,488
Ensembl chr19:40,711,281...40,724,052

generalized epilepsy with febrile seizures plus 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hyperpolarization activated cyclic nucleotide gated potassium channel 1

ClinVar Annotator: match by term: GEFS+, TYPE 10 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 10

PMID:24747641 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 More...

NCBI chr 5:64,673,392...65,116,259
Ensembl chr 5:69,724,767...70,158,761

generalized epilepsy with febrile seizures plus 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: GEFS+, TYPE 2 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2

PMID:1893009 PMID:1893099 PMID:9126059 PMID:9536098 PMID:10486327 More...

NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014

generalized epilepsy with febrile seizures plus 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cysteine and serine rich nuclear protein 3

ClinVar Annotator: match by term: GEFS+, TYPE 7

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr2B:52,744,717...52,962,741
Ensembl chr2B:170,122,687...170,311,348

G

polypeptide N-acetylgalactosaminyltransferase 3

ClinVar Annotator: match by term: GEFS+, TYPE 7

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr2B:53,014,933...53,066,330
Ensembl chr2B:170,335,216...170,539,231

G

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: GEFS+, TYPE 7

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014

G

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: GEFS+, TYPE 7

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509

G

sodium voltage-gated channel alpha subunit 3

ClinVar Annotator: match by term: GEFS+, TYPE 7

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590

G

sodium voltage-gated channel alpha subunit 9

ClinVar Annotator: match by term: GEFS+, TYPE 7 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7

PMID:9536098 PMID:10514109 PMID:10852559 PMID:10852560 PMID:14985375 More...

NCBI chr2B:53,468,290...53,643,747
Ensembl chr2B:170,944,974...171,054,013

G

tetratricopeptide repeat domain 21B

ClinVar Annotator: match by term: GEFS+, TYPE 7

PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More...

NCBI chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471

generalized epilepsy with febrile seizures plus 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cilia and flagella associated protein 119

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9

NCBI chr16:24,207,454...24,212,093
Ensembl chr16:31,124,486...31,129,309

G

cardiotrophin 1

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9

NCBI chr16:24,065,866...24,072,973

G

F-box and leucine rich repeat protein 19

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9

NCBI chr16:24,020,365...24,046,217
Ensembl chr16:31,290,476...31,315,169

G

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9

PMID:25362483 PMID:25741868 PMID:26818399 PMID:28492532 PMID:31273778

NCBI chr16:23,979,487...23,984,225
Ensembl chr16:31,352,322...31,356,803

G

BAF chromatin remodeling complex subunit BCL7C

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9

NCBI chr16:24,075,296...24,135,637
Ensembl chr16:31,198,675...31,261,837

G

ORAI calcium release-activated calcium modulator 3

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9

NCBI chr16:24,014,018...24,019,889
Ensembl chr16:31,314,922...31,323,320

G

phosphorylase kinase catalytic subunit gamma 2

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9

NCBI chr16:24,211,929...24,221,756
Ensembl chr16:31,115,033...31,127,216

G

ring finger protein 40

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9

NCBI chr16:24,194,293...24,207,460
Ensembl chr16:31,129,352...31,142,280

G

SET domain containing 1A, histone lysine methyltransferase

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9

NCBI chr16:23,984,260...24,019,579

G

Snf2 related CREBBP activator protein

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9

NCBI chr16:24,229,869...24,271,427
Ensembl chr16:31,065,964...31,106,312

G

syntaxin 1B

ClinVar Annotator: match by term: GEFS+, TYPE 9 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9

PMID:9536098 PMID:11591834 PMID:16199547 PMID:17576681 PMID:25362483 More...

NCBI chr16:23,956,426...23,979,646
Ensembl chr16:31,356,907...31,378,870

G

syntaxin 4

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9

PMID:25362483 PMID:26818399 PMID:28492532

NCBI chr16:23,917,576...23,933,884
Ensembl chr16:31,400,915...31,411,364

G

zinc finger protein 629

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9

NCBI chr16:24,181,152...24,191,053
Ensembl chr16:31,145,520...31,154,196

G

zinc finger protein 668

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9

PMID:25362483 PMID:26818399 PMID:28492532

NCBI chr16:23,893,617...23,906,552
Ensembl chr16:31,425,412...31,442,494

Generalized Epilepsy with Febrile Seizures Plus, Type 12

term browser

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Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 32 member 1

ClinVar Annotator: match by term: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12

PMID:25741868 PMID:28842445 PMID:34038384 PMID:36073542

NCBI chr20:35,049,115...35,054,347
Ensembl chr20:36,157,265...36,162,426

Generalized Epilepsy with Febrile Seizures Plus, Type 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gamma-aminobutyric acid type A receptor subunit gamma2

ClinVar Annotator: match by term: GEFS+, TYPE 3

PMID:23708187 PMID:25726841 PMID:25730860 PMID:27864268 PMID:28492532 More...

NCBI chr 5:157,436,113...157,529,586
Ensembl chr 5:164,068,122...164,222,179

Generalized Epilepsy with Febrile Seizures Plus, Type 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gamma-aminobutyric acid type A receptor subunit delta

ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus type 5

PMID:15115768 PMID:16023832 PMID:16256272 PMID:16452673 PMID:17559416 More...

NCBI chr 1:731,714...743,165
Ensembl chr 1:1,883,955...1,895,102

idiopathic generalized epilepsy 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gamma-aminobutyric acid type A receptor subunit delta

ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 10 | ClinVar Annotator: match by term: GABRD-related condition

PMID:15115768 PMID:16023832 PMID:16256272 PMID:16452673 PMID:17559416 More...

NCBI chr 1:731,714...743,165
Ensembl chr 1:1,883,955...1,895,102

idiopathic generalized epilepsy 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chloride voltage-gated channel 2

susceptibility

ClinVar Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 11

PMID:1521363 PMID:12612585 PMID:15252188 PMID:15505175 PMID:16199547 More...

NCBI chr 3:181,383,608...181,399,200
Ensembl chr 3:189,862,489...189,881,049

idiopathic generalized epilepsy 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 2 member 1

ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 12

PMID:9536098 PMID:10980529 PMID:11477212 PMID:15622525 PMID:16217704 More...

NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143

idiopathic generalized epilepsy 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gamma-aminobutyric acid type A receptor subunit alpha1

susceptibility

ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13

PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 More...

NCBI chr 5:157,234,725...157,287,475
Ensembl chr 5:163,928,392...163,981,117

idiopathic generalized epilepsy 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 12 member 5

susceptibility

ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 14

PMID:9536098 PMID:17576681 PMID:24668262 PMID:24928908 PMID:25741868 More...

NCBI chr20:42,359,005...42,397,412
Ensembl chr20:43,445,182...43,483,132

idiopathic generalized epilepsy 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RAR related orphan receptor B

susceptibility

ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 15

PMID:16199547 PMID:25356972 PMID:25741868 PMID:27352968 PMID:28492532

NCBI chr 9:50,144,836...50,340,910
Ensembl chr 9:73,469,767...73,543,030

Idiopathic Generalized Epilepsy 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

potassium calcium-activated channel subfamily M alpha 1

ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 16

PMID:25741868 PMID:28492532

NCBI chr10:73,391,297...74,158,488
Ensembl chr10:76,062,047...76,820,644

Idiopathic Generalized Epilepsy 18

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

hyperpolarization activated cyclic nucleotide gated potassium channel 4

susceptibility

ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 18

PMID:23623143 PMID:24033266 PMID:24607718 PMID:25642760 PMID:25741868 More...

NCBI chr15:52,231,906...52,285,220
Ensembl chr15:70,997,020...71,042,285

idiopathic generalized epilepsy 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EF-hand domain containing 1

ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7

PMID:25741868 PMID:28492532

NCBI chr 6:51,972,041...52,044,219
Ensembl chr 6:53,239,474...53,344,404

G

neuronal acetylcholine receptor subunit alpha-7

ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7

PMID:25326635 PMID:25741868

NCBI chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194

G

sodium voltage-gated channel alpha subunit 3

ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7

NCBI chr2B:52,363,020...52,479,818
Ensembl chr2B:169,722,134...169,838,590

idiopathic generalized epilepsy 8

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium sensing receptor

susceptibility

ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 8

PMID:791660 PMID:1302026 PMID:7054696 PMID:7726161 PMID:7791841 More...

NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268

idiopathic generalized epilepsy 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel auxiliary subunit beta 4

ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 9 | ClinVar Annotator: match by term: Epilepsy, juvenile myoclonic, susceptibility to, 6

PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr2B:39,137,777...39,399,007
Ensembl chr2B:156,379,469...156,639,328

myoclonic-atonic epilepsy

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase Na+/K+ transporting subunit alpha 3

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr19:38,854,243...38,882,034
Ensembl chr19:47,358,281...47,384,716

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 More...

NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729

G

coiled-coil domain containing 120

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:41,341,834...41,367,761
Ensembl chr X:49,207,391...49,223,552

G

chromodomain helicase DNA binding protein 2

ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset

PMID:9536098 PMID:17576681 PMID:23708187 PMID:24207121 PMID:25418537 More...

NCBI chr15:71,568,560...71,713,330
Ensembl chr15:90,781,169...90,903,569

G

dynamin 1

NCBI chr 9:99,324,385...99,376,262
Ensembl chr 9:128,004,508...128,044,690

G

fibroblast growth factor 12

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

PMID:25741868 PMID:27164707 PMID:27830185 PMID:27872899 PMID:28492532 More...

NCBI chr 3:189,430,811...190,017,254
Ensembl chr 3:199,778,545...200,358,744

G

fragile X messenger ribonucleoprotein 1

protein:decreased expression:hippocampus, cytosol (rat)

NCBI chr X:136,937,889...136,976,828
Ensembl chr X:147,365,748...147,405,321

G

IQ motif and Sec7 domain ArfGEF 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr X:45,447,977...45,535,836
Ensembl chr X:53,557,563...53,644,737

G

phosphoinositide-3-kinase adaptor protein 1

ClinVar Annotator: match by term: Infantile spasm

PMID:25741868 PMID:28492532

NCBI chr10:93,210,174...93,339,545
Ensembl chr10:96,714,159...96,841,131

G

PRA1 domain family member 2

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:41,369,432...41,372,322
Ensembl chr X:49,224,864...49,233,960

G

Ral GTPase activating protein catalytic subunit alpha 1

ClinVar Annotator: match by term: Infantile spasm

NCBI chr14:16,292,189...16,562,880
Ensembl chr14:34,472,880...34,743,430

G

RNA binding fox-1 homolog 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr16:4,162,659...6,640,962
Ensembl chr16:5,418,607...7,889,215

G

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: Infantile spasm

PMID:18930999 PMID:19563458 PMID:20452746 PMID:22848613 PMID:25741868 More...

NCBI chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014

G

sodium voltage-gated channel beta subunit 1

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:19710327 PMID:25741868 PMID:28218389 PMID:28492532 PMID:37845033

NCBI chr19:31,974,499...31,984,488
Ensembl chr19:40,711,281...40,724,052

G

sodium voltage-gated channel alpha subunit 2

ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood

NCBI chr2B:52,514,918...52,667,225
Ensembl chr2B:169,928,323...170,027,509

G

solute carrier family 13 member 5

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

PMID:24033266 PMID:24995870 PMID:25741868 PMID:26384929 PMID:27261973 More...

NCBI chr17:6,721,620...6,751,840
Ensembl chr17:6,709,647...6,738,683

G

solute carrier family 6 member 1

ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder
ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder

PMID:9536098 PMID:14744863 PMID:15496410 PMID:16199547 PMID:17576681 More...

NCBI chr 3:10,930,455...10,976,968
Ensembl chr 3:11,296,023...11,323,624

G

SLIT-ROBO Rho GTPase activating protein 2

ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy

NCBI chr 1:181,808,318...182,064,583
Ensembl chr 1:186,092,113...186,346,019

G

syntaxin binding protein 1

ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Infantile spasm

PMID:18414213 PMID:20887364 PMID:22612257 PMID:24781210 PMID:25356970 More...

NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152

G

TBC1 domain family member 24

DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human)

NCBI chr16:1,331,630...1,362,320
Ensembl chr16:2,581,835...2,603,912

G

WD repeat domain 45

ClinVar Annotator: match by term: Early onset epileptic encephalopathy

NCBI chr X:41,372,722...41,400,441
Ensembl chr X:49,224,864...49,233,960

Term paths to the root

Path 1
Term	Annotations
disease	15697
disease of anatomical entity	15311
nervous system disease	13350
central nervous system disease	11956
brain disease	11239
epilepsy	2808
Generalized Epilepsy	387
idiopathic generalized epilepsy	258
Childhood Absence Epilepsy 6	1
Idiopathic Generalized Epilepsy 16	1
Idiopathic Generalized Epilepsy 18	1
generalized epilepsy with febrile seizures plus +	27
idiopathic generalized epilepsy 10 +	1
idiopathic generalized epilepsy 11	1
idiopathic generalized epilepsy 12	1
idiopathic generalized epilepsy 13	1
idiopathic generalized epilepsy 14	1
idiopathic generalized epilepsy 15	1
idiopathic generalized epilepsy 2	0
idiopathic generalized epilepsy 3	0
idiopathic generalized epilepsy 4	0
idiopathic generalized epilepsy 5	0
idiopathic generalized epilepsy 7	3
idiopathic generalized epilepsy 8	1
idiopathic generalized epilepsy 9	1
myoclonic-atonic epilepsy	21

paths to the root