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: Generalized Epilepsy
Accession: DOID:9001793
browse the term
Definition: Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)
Synonyms: exact_synonym: Akinetic Epilepsy; Atonic Epilepsies; Atonic Epilepsy; Convulsive Generalized Seizure Disorder; EPILEPTIC ENCEPHALOPATHY; Generalized Convulsive Epilepsies; Generalized Convulsive Epilepsy; Generalized Epilepsies; Generalized Nonconvulsive Epilepsy; Generalized Nonconvulsive Seizure Disorder; Generalized Onset Seizure Disorder; Generalized Seizure Disorder; Generalized Seizure Disorders; Symptomatic Generalized Epilepsy; Tonic Epilepsies; akinetic epilepsies; tonic epilepsy
primary_id: MESH:D004829
alt_id: RDO:0005510
For additional species annotation, visit the
Alliance of Genome Resources .
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ALG13
ALG13 UDP-N-acetylglucosaminyltransferase subunit
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
NCBI chr X:84,752,284...84,825,414
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ANKS6
ankyrin repeat and sterile alpha motif domain containing 6
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:55,845,695...55,893,253
Ensembl chr11:55,847,808...55,893,257
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ANP32B
acidic nuclear phosphoprotein 32 family member B
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:55,230,017...55,272,744
Ensembl chr11:55,243,854...55,350,194
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AP3B2
adaptor related protein complex 3 subunit beta 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:18414213 PMID:27889060
NCBI chr 3:54,509,753...54,539,520
Ensembl chr 3:54,508,627...54,539,505
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ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:32581362
NCBI chr 1:112,325,988...112,346,056
Ensembl chr 1:112,325,289...112,346,916
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ATP1A4
ATPase Na+/K+ transporting subunit alpha 4
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:16538223 PMID:22117059 PMID:25741868 PMID:28492532
NCBI chr38:22,023,176...22,080,656
Ensembl chr38:22,023,221...22,080,604
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ATP7B
ATPase copper transporting beta
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:2679931 PMID:9671269 PMID:10790207 PMID:11243728 PMID:12885331 PMID:15811015 PMID:16207219 PMID:16684691 PMID:16791614 PMID:18414213 PMID:20517649 PMID:21610751 PMID:22484412 PMID:22677543 PMID:22692182 PMID:23518715 PMID:23551039 PMID:23789284 PMID:24517292 PMID:25390358 PMID:25741868 PMID:25825851 PMID:26764160 PMID:26799313 PMID:28492532 PMID:30097039 PMID:30232804 PMID:32043565 PMID:32154060
NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266
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AVEN
apoptosis and caspase activation inhibitor
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25262651 PMID:28492532
NCBI chr30:1,000,781...1,179,463
Ensembl chr30:991,954...1,179,114
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISO
RGD
PMID:11342703
RGD:734669
NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
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CACNA2D2
calcium voltage-gated channel auxiliary subunit alpha2delta 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
NCBI chr20:38,859,047...38,995,239
Ensembl chr20:38,883,530...38,993,273
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CACNB4
calcium voltage-gated channel auxiliary subunit beta 4
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:10762541
RGD:734674
NCBI chr19:52,987,170...53,116,410
Ensembl chr19:52,993,618...53,116,140
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CDKL5
cyclin dependent kinase like 5
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:18414213 PMID:20397747 PMID:25741868 PMID:28492532
NCBI chr X:14,512,226...14,725,348
Ensembl chr X:14,512,178...14,725,233
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CHRNA7
cholinergic receptor nicotinic alpha 7 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19136953
NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399
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CORO2A
coronin 2A
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:55,345,577...55,400,092
Ensembl chr11:55,345,934...55,372,374
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FASN
fatty acid synthase
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:21937992 PMID:25741868 PMID:28492532
NCBI chr 9:233,105...249,573
Ensembl chr 9:232,963...249,092
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FOXE1
forkhead box E1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:55,143,389...55,145,954
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GABBR2
gamma-aminobutyric acid type B receptor subunit 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25741868 PMID:26740508 PMID:27541642 PMID:28492532 PMID:28590052 PMID:28856709 PMID:29100083
NCBI chr11:55,469,327...55,817,930
Ensembl chr11:55,470,197...55,817,945
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GABRB3
gamma-aminobutyric acid type A receptor subunit beta3
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25741868 PMID:32581362
NCBI chr 3:33,878,948...34,101,987
Ensembl chr 3:33,878,904...34,097,764
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GABRD
gamma-aminobutyric acid type A receptor subunit delta
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358
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GNAO1
G protein subunit alpha o1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25741868 PMID:26485252 PMID:28357411 PMID:28492532 PMID:28747448 PMID:28817111 PMID:32581362
NCBI chr 2:59,805,675...59,980,782
Ensembl chr 2:59,806,689...59,980,398
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GRIA3
glutamate ionotropic receptor AMPA type subunit 3
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25741868 PMID:32581362
NCBI chr X:94,729,828...95,006,244
Ensembl chr X:94,730,943...95,004,279
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GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960
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GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25741868
NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680
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HCN1
hyperpolarization activated cyclic nucleotide gated potassium channel 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25741868 PMID:30351409
NCBI chr 4:64,777,069...65,162,603
Ensembl chr 4:64,775,577...65,160,444
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HEMGN
hemogen
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:55,208,038...55,223,487
Ensembl chr11:55,208,327...55,219,643
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HNRNPU
heterogeneous nuclear ribonucleoprotein U
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25326635 PMID:25741868 PMID:28815871
NCBI chr 7:35,832,956...35,842,898
Ensembl chr 7:35,833,988...35,843,754
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IDUA
alpha-L-iduronidase
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
NCBI chr 3:91,517,225...91,534,593
Ensembl chr 3:91,522,035...91,534,593
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JRK
Jrk helix-turn-helix protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11463517
NCBI chr13:36,754,771...36,767,799
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KCNB1
potassium voltage-gated channel subfamily B member 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25164438 PMID:25741868 PMID:26477325 PMID:28492532 PMID:28806457 PMID:29264397 PMID:32581362
NCBI chr24:36,016,800...36,118,873
Ensembl chr24:36,025,472...36,117,934
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KCNQ2
potassium voltage-gated channel subfamily Q member 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:23621294 PMID:23934111 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25741868 PMID:25880994 PMID:25959266 PMID:27864847 PMID:28133863 PMID:28492532 PMID:28973083 PMID:29186148 PMID:32581362
NCBI chr24:47,060,527...47,089,077
Ensembl chr24:47,060,245...47,089,711
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KCNT1
potassium sodium-activated channel subfamily T member 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:49,532,073...49,581,332
Ensembl chr 9:49,532,922...49,593,633
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KCTD7
potassium channel tetramerization domain containing 7
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:28492532 PMID:30295347 PMID:32581362
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LOC609612
folate receptor alpha
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
NCBI chr21:25,944,350...25,951,010
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MAPK10
mitogen-activated protein kinase 10
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
NCBI chr32:9,584,437...9,889,118
Ensembl chr32:9,575,492...9,884,325
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MECP2
methyl-CpG binding protein 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25741868
NCBI chr X:121,866,721...121,876,088
Ensembl chr X:121,873,218...121,932,994
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MEF2C
myocyte enhancer factor 2C
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:32581362
NCBI chr 3:19,778,997...19,948,203
Ensembl chr 3:19,779,007...19,943,852
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MTRFR
mitochondrial translation release factor in rescue
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:20598281 PMID:25326635 PMID:25741868 PMID:26539891 PMID:32581362
NCBI chr26:6,296,859...6,310,684
Ensembl chr26:6,296,266...6,310,669
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NANS
N-acetylneuraminate synthase
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:55,286,290...55,310,904
Ensembl chr11:55,243,854...55,350,194
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NCBP1
nuclear cap binding protein subunit 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:54,938,250...54,974,536
Ensembl chr11:54,938,372...54,974,547
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OTUD7A
OTU deubiquitinase 7A
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:31997314
NCBI chr 3:37,348,167...37,548,357
Ensembl chr 3:37,348,170...37,548,885
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PGK1
phosphoglycerate kinase 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25741868
NCBI chr X:60,374,743...60,396,244
Ensembl chr X:60,374,754...60,423,947
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PNKP
polynucleotide kinase 3'-phosphatase
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 1:106,695,649...106,707,229
Ensembl chr 1:106,694,589...106,702,150
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PURA
purine rich element binding protein A
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:32581362
NCBI chr 2:35,325,630...35,345,366
Ensembl chr 2:35,330,902...35,332,835
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RS1
retinoschisin 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:14,727,016...14,749,674
Ensembl chr X:14,727,062...14,749,492
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RYR3
ryanodine receptor 3
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25262651 PMID:25741868 PMID:28492532 PMID:29498452
NCBI chr30:1,179,575...1,533,352
Ensembl chr30:1,180,359...1,533,619
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SCN1A
sodium voltage-gated channel alpha subunit 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epileptic encephalopathy ClinVar Annotator: match by term: Generalized epilepsy
CTD ClinVar
PMID:11359211 PMID:14504318 PMID:17054684 PMID:17347258 PMID:18930999 PMID:21480876 PMID:21719429 PMID:25741868 PMID:26096185 PMID:26993267 PMID:28492532 PMID:32581362
NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496
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SCN2A
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:18414213 PMID:20956790 PMID:23550958 PMID:23708187 PMID:25326635 PMID:25741868 PMID:26291284 PMID:26645390 PMID:26993267 PMID:27159988 PMID:28065826 PMID:28379373 PMID:28492532 PMID:29844171 PMID:32860008
NCBI chr36:10,472,496...10,605,055
Ensembl chr36:10,472,361...10,602,685
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SCN8A
sodium voltage-gated channel alpha subunit 8
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:24888894 PMID:25568300 PMID:25741868 PMID:25951352 PMID:26029160 PMID:26900580 PMID:27864847 PMID:28492532 PMID:28923014 PMID:30171078 PMID:30615093
NCBI chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482
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SGSH
N-sulfoglucosamine sulfohydrolase
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:9285796 PMID:9401012 PMID:10601282 PMID:11182930 PMID:15146460 PMID:15542396 PMID:18407553 PMID:21061399 PMID:22976768 PMID:24314109 PMID:25741868 PMID:28492532 PMID:28844463 PMID:30809705 PMID:31536183
NCBI chr 9:1,540,933...1,547,029
Ensembl chr 9:1,540,932...1,547,029
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SLC13A5
solute carrier family 13 member 5
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:32581362
NCBI chr 5:30,655,167...30,677,551
Ensembl chr 5:30,655,760...30,674,653
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SLC26A1
solute carrier family 26 member 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
NCBI chr 3:91,528,045...91,534,104
Ensembl chr 3:91,485,270...91,534,115
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SLC35A2
solute carrier family 35 member A2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
NCBI chr X:42,060,568...42,071,330
Ensembl chr X:42,052,781...42,071,012
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STXBP1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:20887364 PMID:21762454 PMID:23934111 PMID:24033266 PMID:25741868 PMID:26648591 PMID:26865513 PMID:26918652 PMID:27171548 PMID:28387369 PMID:28492532 PMID:28947817 PMID:32581362
NCBI chr 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680
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SYNGAP1
synaptic Ras GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25741868
NCBI chr12:2,829,274...2,862,888
Ensembl chr12:2,829,306...2,851,432
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TBC1D2
TBC1 domain family member 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:55,404,468...55,455,061
Ensembl chr11:55,404,506...55,454,890
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TDRD7
tudor domain containing 7
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:54,758,092...54,828,766
Ensembl chr11:54,758,826...54,828,743
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TMOD1
tropomodulin 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:54,853,205...54,914,236
Ensembl chr11:54,853,204...54,912,773
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TRIM14
tripartite motif containing 14
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:55,313,700...55,343,217
Ensembl chr11:55,316,111...55,343,287
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TRIT1
tRNA isopentenyltransferase 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25741868
NCBI chr15:3,013,928...3,071,029
Ensembl chr15:3,013,666...3,071,034
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TRMO
tRNA methyltransferase O
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:55,185,752...55,202,885
Ensembl chr11:55,147,629...55,202,827
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TSTD2
thiosulfate sulfurtransferase like domain containing 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:54,914,459...54,938,156
Ensembl chr11:54,914,991...54,937,831
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UGDH
UDP-glucose 6-dehydrogenase
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25741868 PMID:32001716 PMID:32860008
NCBI chr 3:72,935,532...72,964,151
Ensembl chr 3:72,839,920...72,963,208
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USP19
ubiquitin specific peptidase 19
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
NCBI chr20:40,062,802...40,074,221
Ensembl chr20:40,064,599...40,074,082
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WASF1
WASP family member 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:29961568 PMID:32581362
NCBI chr12:66,833,776...66,897,500
Ensembl chr12:66,833,995...66,897,483
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WWOX
WW domain containing oxidoreductase
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25741868
NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406
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XPA
XPA, DNA damage recognition and repair factor
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:28492532
NCBI chr11:54,976,978...54,996,140
Ensembl chr11:54,976,976...54,996,065
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ZEB2
zinc finger E-box binding homeobox 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr19:46,419,812...46,541,888
Ensembl chr19:46,423,998...46,542,122
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PRRT2
proline rich transmembrane protein 2
ISO
OMIM
NCBI chr 6:17,872,670...17,877,502
Ensembl chr 6:17,873,521...17,903,184
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KCNQ3
potassium voltage-gated channel subfamily Q member 3
ISO
ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5
ClinVar
PMID:23020937 PMID:23934111 PMID:25740509 PMID:25741868 PMID:26350515 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879
NCBI chr13:28,765,472...29,062,371
Ensembl chr13:28,773,738...29,062,370
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SCN8A
sodium voltage-gated channel alpha subunit 8
ISO
OMIM
NCBI chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482
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CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISO
DNA:mutation:cds:752T>A (p.M251K)(rat) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:17196942
RGD:1598976
NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
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CACNA1H
calcium voltage-gated channel subunit alpha1 H
susceptibility
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence 6 ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6 ClinVar Annotator: match by term: CACNA1H-related disorder CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 PMID:15888660 PMID:17696120 PMID:25741868 PMID:26467025 PMID:28492532
RGD:1358447
NCBI chr 6:39,510,129...39,533,129
Ensembl chr 6:39,510,121...39,533,753
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CACNA2D2
calcium voltage-gated channel auxiliary subunit alpha2delta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14660671
NCBI chr20:38,859,047...38,995,239
Ensembl chr20:38,883,530...38,993,273
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CACNG2
calcium voltage-gated channel auxiliary subunit gamma 2
ISO
mRNA,protein:increased expression:somatosensory cortex, primary motor cortex
RGD
PMID:18556211
RGD:13524553
NCBI chr10:27,750,314...27,862,646
Ensembl chr10:27,750,935...27,862,885
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CACNG3
calcium voltage-gated channel auxiliary subunit gamma 3
ISO
RGD
PMID:11904235
RGD:728397
NCBI chr 6:21,626,977...21,712,331
Ensembl chr 6:21,627,547...21,711,635
G
EFHC1
EF-hand domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr12:20,068,287...20,131,621
Ensembl chr12:20,067,881...20,131,619
G
GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1
ISO
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4
ClinVar
PMID:16530959 PMID:16569738 PMID:16718694 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532
NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581
G
GABRA6
gamma-aminobutyric acid type A receptor subunit alpha6
ISO
ClinVar Annotator: match by term: Childhood absence epilepsy
ClinVar
PMID:28492532
NCBI chr 4:49,208,691...49,225,754
Ensembl chr 4:49,208,605...49,226,212
G
GABRB3
gamma-aminobutyric acid type A receptor subunit beta3
susceptibility
ISO
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 DNA:SNPs CTD Direct Evidence: marker/mechanism
OMIM ClinVar RGD CTD
PMID:16835263 PMID:18514161 PMID:19935738 PMID:20550555 PMID:24088041 PMID:25726841 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26845707 PMID:26950270 PMID:28492532
RGD:1601269
NCBI chr 3:33,878,948...34,101,987
Ensembl chr 3:33,878,904...34,097,764
G
GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
ISO
DNA:snp:intron:IVS6+2T>G (human)
RGD
PMID:12117362
RGD:1358631
NCBI chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548
G
GLUD1
glutamate dehydrogenase 1
ISO
protein:increased expression:thalamus
RGD
PMID:10975907
RGD:6484590
NCBI chr 4:34,629,046...34,662,711
G
GRIK1
glutamate ionotropic receptor kainate type subunit 1
ISO
RGD
PMID:9259378
RGD:1358334
NCBI chr31:24,477,319...24,839,502
Ensembl chr31:24,478,696...24,839,434
G
HCN1
hyperpolarization activated cyclic nucleotide gated potassium channel 1
ISO
RGD
PMID:15182313
RGD:9686420
NCBI chr 4:64,777,069...65,162,603
Ensembl chr 4:64,775,577...65,160,444
G
HTR7
5-hydroxytryptamine receptor 7
ISO
RGD
PMID:15050708
RGD:6480686
NCBI chr28:5,438,872...5,524,385
Ensembl chr28:5,440,388...5,524,191
G
JRK
Jrk helix-turn-helix protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11463517
NCBI chr13:36,754,771...36,767,799
G
KCNK9
potassium two pore domain channel subfamily K member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15781965
NCBI chr13:34,461,430...34,475,070
Ensembl chr13:34,473,488...34,474,866
G
LGI4
leucine rich repeat LGI family member 4
ISO
DNA:point mutation: :c.1914G>A (human)
RGD
PMID:14505228
RGD:1302591
NCBI chr 1:117,443,569...117,452,367
Ensembl chr 1:117,444,941...117,452,381
G
MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:20303372
RGD:8547934
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
G
NPY
neuropeptide Y
treatment
ISO
RGD
PMID:17331209 PMID:24039965
RGD:10448963 RGD:10448964
NCBI chr14:37,824,579...37,831,289
Ensembl chr14:37,823,861...37,831,443
G
NPY1R
neuropeptide Y receptor Y1
treatment
ISO
RGD
PMID:17331209
RGD:10448963
NCBI chr15:59,580,546...59,587,753
Ensembl chr15:59,580,809...59,583,237
G
NPY2R
neuropeptide Y receptor Y2
treatment
ISO
RGD
PMID:17331209
RGD:10448963
NCBI chr15:52,790,136...52,797,785
Ensembl chr15:52,794,671...52,795,818
G
NPY5R
neuropeptide Y receptor Y5
treatment
ISO
RGD
PMID:17331209
RGD:10448963
NCBI chr15:59,600,212...59,608,576
Ensembl chr15:59,606,902...59,608,273
G
SCN1B
sodium voltage-gated channel beta subunit 1
ISO
ClinVar Annotator: match by term: Childhood absence epilepsy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:117,504,428...117,510,666
Ensembl chr 1:117,503,828...117,511,727
G
SLC2A1
solute carrier family 2 member 1
onset
ISO
DNA:deletion, missense mutations, SNP:multiple
RGD
PMID:26537434
RGD:11058811
NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140
G
YWHAZ
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta
ISO
protein:increased expression:parietal lobe
RGD
PMID:21310218
RGD:9587483
NCBI chr13:2,729,404...2,764,422
G
ATP10A
ATPase phospholipid transporting 10A (putative)
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar
PMID:11198279 PMID:28492532
NCBI chr 3:34,841,218...35,028,718
Ensembl chr 3:34,841,073...35,028,040
G
GABRA5
gamma-aminobutyric acid type A receptor subunit alpha5
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar
PMID:11198279 PMID:28492532
NCBI chr 3:33,663,414...33,746,120
Ensembl chr 3:33,664,169...33,744,328
G
GABRB3
gamma-aminobutyric acid type A receptor subunit beta3
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1
ClinVar
PMID:2828157 PMID:11198279 PMID:11742254 PMID:12189488 PMID:18514161 PMID:19935738 PMID:20550555 PMID:23495136 PMID:23934111 PMID:24909990 PMID:25533962 PMID:25726841 PMID:25741868 PMID:25849321 PMID:26068938 PMID:26467025 PMID:26704558 PMID:26845707 PMID:26950270 PMID:27476654 PMID:27622563 PMID:28053010 PMID:28281572 PMID:28492532 PMID:28544625 PMID:28607477 PMID:29961870
NCBI chr 3:33,878,948...34,101,987
Ensembl chr 3:33,878,904...34,097,764
G
RORB
RAR related orphan receptor B
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar
PMID:25950944
NCBI chr 1:83,470,569...83,666,200
Ensembl chr 1:83,476,816...83,666,061
G
GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence 2 ClinVar Annotator: match by term: GABRG2-Related Disorder
ClinVar
PMID:11326274 PMID:11326275 PMID:11748509 PMID:12097483 PMID:12117362 PMID:12477709 PMID:15342642 PMID:15470132 PMID:15866052 PMID:16510738 PMID:16924025 PMID:17148443 PMID:18094250 PMID:18414213 PMID:18566737 PMID:20485450 PMID:20551311 PMID:21425109 PMID:22190369 PMID:22539854 PMID:22750526 PMID:23708187 PMID:23720301 PMID:23935098 PMID:24407264 PMID:24480790 PMID:24630281 PMID:24811917 PMID:25726841 PMID:25730860 PMID:25731747 PMID:25741868 PMID:26467025 PMID:27066572 PMID:27334371 PMID:27340224 PMID:27367160 PMID:27864268 PMID:27899622 PMID:28460589 PMID:28492532 PMID:29100083 PMID:29358611 PMID:29778030
NCBI chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548
G
CCDC120
coiled-coil domain containing 120
ISO
ClinVar Annotator: match by term: Early onset epileptic encephalopathy
ClinVar
PMID:26173968
NCBI chr X:42,206,553...42,217,607
Ensembl chr X:42,210,804...42,216,993
G
CDKL5
cyclin dependent kinase like 5
ISO
ClinVar Annotator: match by term: Infantile spasm
ClinVar
PMID:16813600 PMID:18414213 PMID:21775177 PMID:22867051 PMID:25741868 PMID:28492532
NCBI chr X:14,512,226...14,725,348
Ensembl chr X:14,512,178...14,725,233
G
CHD2
chromodomain helicase DNA binding protein 2
ISO
OMIM
NCBI chr 3:47,101,789...47,221,473
Ensembl chr 3:47,105,046...47,221,385
G
DNM1
dynamin 1
ISO
RGD
PMID:27363778
RGD:11557016
NCBI chr 9:55,252,802...55,298,244
Ensembl chr 9:55,252,347...55,298,244
G
FGF12
fibroblast growth factor 12
ISO
ClinVar Annotator: match by term: Early onset epileptic encephalopathy
ClinVar
PMID:25741868 PMID:27164707 PMID:27830185
NCBI chr34:23,818,445...24,357,825
Ensembl chr34:23,819,686...24,357,373
G
FMR1
FMRP translational regulator 1
ISO
protein:decreased expression:hippocampus, cytosol (rat)
RGD
PMID:23831253
RGD:11667971
NCBI chr X:116,249,079...116,287,008
Ensembl chr X:116,249,142...116,321,439
G
PRAF2
PRA1 domain family member 2
ISO
ClinVar Annotator: match by term: Early onset epileptic encephalopathy
ClinVar
PMID:26173968
NCBI chr X:42,218,038...42,221,075
Ensembl chr X:42,218,046...42,226,422
G
RBFOX1
RNA binding fox-1 homolog 1
ISO
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy
ClinVar
PMID:25741868
NCBI chr 6:34,218,276...36,255,529
Ensembl chr 6:34,220,648...36,255,384
G
RS1
retinoschisin 1
ISO
ClinVar Annotator: match by term: Infantile spasm
ClinVar
PMID:16813600 PMID:18414213 PMID:21775177 PMID:22867051 PMID:25741868 PMID:28492532
NCBI chr X:14,727,016...14,749,674
Ensembl chr X:14,727,062...14,749,492
G
SLC13A5
solute carrier family 13 member 5
ISO
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy
ClinVar
PMID:24033266 PMID:24995870 PMID:26384929 PMID:27261973 PMID:27600704 PMID:28492532
NCBI chr 5:30,655,167...30,677,551
Ensembl chr 5:30,655,760...30,674,653
G
SRGAP2
SLIT-ROBO Rho GTPase activating protein 2
ISO
ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy
ClinVar
PMID:25741868
NCBI chr38:2,506,617...2,741,866
G
STXBP1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: Early onset epileptic encephalopathy
ClinVar
PMID:18414213 PMID:24781210 PMID:25356970 PMID:25741868 PMID:26795593 PMID:26865513 PMID:26993267 PMID:28492532 PMID:29264391
NCBI chr 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680
G
TBC1D24
TBC1 domain family member 24
ISO
DNA:misense, nonsense mutations:cds:c.468C>A (C156X), c.686T>C(F229S)(human)
RGD
PMID:23526554
RGD:11537471
NCBI chr 6:38,531,547...38,557,472
G
WDR45
WD repeat domain 45
ISO
ClinVar Annotator: match by term: Early onset epileptic encephalopathy
ClinVar
PMID:26173968
NCBI chr X:42,221,261...42,237,535
Ensembl chr X:42,218,046...42,226,422
G
ALG13
ALG13 UDP-N-acetylglucosaminyltransferase subunit
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868
NCBI chr X:84,752,284...84,825,414
G
ARX
aristaless related homeobox
ISO
OMIM
NCBI chr X:20,545,346...20,556,206
Ensembl chr X:20,545,346...20,556,206
G
CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868
NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
G
CCNF
cyclin F
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 PMID:26467025 PMID:27259978 PMID:27281533 PMID:28301460 PMID:28492532 PMID:29358611
NCBI chr 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435
G
CSNK1E
casein kinase 1 epsilon
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
NCBI chr10:26,386,646...26,412,429
Ensembl chr10:26,393,033...26,411,624
G
GABRB3
gamma-aminobutyric acid type A receptor subunit beta3
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868
NCBI chr 3:33,878,948...34,101,987
Ensembl chr 3:33,878,904...34,097,764
G
GNAO1
G protein subunit alpha o1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868
NCBI chr 2:59,805,675...59,980,782
Ensembl chr 2:59,806,689...59,980,398
G
HCN1
hyperpolarization activated cyclic nucleotide gated potassium channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24747641
NCBI chr 4:64,777,069...65,162,603
Ensembl chr 4:64,775,577...65,160,444
G
KCNA2
potassium voltage-gated channel subfamily A member 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:8663992 PMID:8663993 PMID:15694325 PMID:16002579 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:27733563 PMID:28492532
NCBI chr 6:41,405,453...41,415,727
Ensembl chr 6:41,407,070...41,408,823
G
KCNQ2
potassium voltage-gated channel subfamily Q member 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr24:47,060,527...47,089,077
Ensembl chr24:47,060,245...47,089,711
G
MAF
MAF bZIP transcription factor
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29390993
NCBI chr 5:71,965,291...71,982,903
Ensembl chr 5:71,965,500...71,981,735
G
NAPB
NSF attachment protein beta
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
NCBI chr24:217,287...258,278
Ensembl chr24:217,381...255,752
G
NRXN2
neurexin 2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
NCBI chr18:52,439,836...52,537,577
Ensembl chr18:52,439,230...52,536,401
G
PLCB1
phospholipase C beta 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868
NCBI chr24:13,337,285...13,996,218
Ensembl chr24:13,322,296...13,995,539
G
POLA1
DNA polymerase alpha 1, catalytic subunit
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:28492532
NCBI chr X:20,227,808...20,537,893
Ensembl chr X:20,227,886...20,537,902
G
SCN1A
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496
G
SLC35A2
solute carrier family 35 member A2
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868
NCBI chr X:42,060,568...42,071,330
Ensembl chr X:42,052,781...42,071,012
G
ST3GAL3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868
NCBI chr15:16,324,752...16,434,256
Ensembl chr15:16,324,899...16,401,616
G
SYNJ1
synaptojanin 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr31:27,308,169...27,399,226
Ensembl chr31:27,308,169...27,399,197
G
SZT2
SZT2 subunit of KICSTOR complex
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:16,729,068...16,780,549
Ensembl chr15:16,728,758...16,780,325
G
TBC1D24
TBC1 domain family member 24
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome
ClinVar
PMID:10574461 PMID:16855591 PMID:18414213 PMID:20727515 PMID:22277662 PMID:23184456 PMID:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 PMID:24387994 PMID:24848745 PMID:25169651 PMID:25557349 PMID:25719194 PMID:25741868 PMID:25769375 PMID:26207815 PMID:26371875 PMID:26467025 PMID:26668325 PMID:27259978 PMID:27281533 PMID:27502353 PMID:27541164 PMID:28072960 PMID:28292732 PMID:28301460 PMID:28428906 PMID:28492532 PMID:28663785 PMID:29100083 PMID:29358611 PMID:29671961 PMID:30108545 PMID:30180405 PMID:30311386 PMID:30335140 PMID:31112829 PMID:31257402
NCBI chr 6:38,531,547...38,557,472
G
WWOX
WW domain containing oxidoreductase
ISO
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: OHTAHARA SYNDROME, X-LINKED
ClinVar
PMID:11572989 PMID:20480411 PMID:21983861 PMID:24082139 PMID:24456803 PMID:25403906 PMID:25411445 PMID:25558065 PMID:25612104 PMID:25741868 PMID:26467025 PMID:27495153 PMID:27569545 PMID:27717089 PMID:27884173 PMID:28492532 PMID:29358611 PMID:29390993 PMID:29675105 PMID:29852413 PMID:29905011
NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406
G
BEND2
BEN domain containing 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532
NCBI chr X:14,263,152...14,324,882
Ensembl chr X:14,265,296...14,333,751
G
CDKL5
cyclin dependent kinase like 5
severity
ISO
DNA:mutations:cds:
OMIM RGD
PMID:22678952
RGD:12791015
NCBI chr X:14,512,226...14,725,348
Ensembl chr X:14,512,178...14,725,233
G
NHS
NHS actin remodeling regulator
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532
NCBI chr X:13,487,919...13,834,869
Ensembl chr X:13,488,515...13,831,386
G
RAI2
retinoic acid induced 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532
NCBI chr X:13,871,795...14,021,908
G
RS1
retinoschisin 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
ClinVar
PMID:15499549 PMID:16813600 PMID:18076117 PMID:18414213 PMID:18564362 PMID:19241098 PMID:19428276 PMID:19780792 PMID:20479760 PMID:20493745 PMID:21160487 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22867051 PMID:23184456 PMID:23242510 PMID:23828526 PMID:25315662 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29264392 PMID:29655203
NCBI chr X:14,727,016...14,749,674
Ensembl chr X:14,727,062...14,749,492
G
SCML1
Scm polycomb group protein like 1
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532
NCBI chr X:13,836,054...13,850,151
G
SCML2
Scm polycomb group protein like 2
ISO
ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2
ClinVar
PMID:18076117 PMID:19780792 PMID:20493745 PMID:21770923 PMID:23184456 PMID:23828526 PMID:25315662 PMID:28492532
NCBI chr X:14,334,769...14,436,614
Ensembl chr X:14,335,013...14,437,176
G
BCHE
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15121994
NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
G
BDNF
brain derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
G
CYP2D15
cytochrome P450 family 2 subfamily D member 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835697
NCBI chr10:23,255,259...23,259,380
Ensembl chr10:23,255,249...23,259,298
G
FGF2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
G
HBEGF
heparin binding EGF like growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr 2:35,551,248...35,563,310
Ensembl chr 2:35,551,250...35,563,043
G
KCNJ10
potassium inwardly rectifying channel subfamily J member 10
ISO
protein:decreased expression:dorsal plus ventral thalamus, cerebral cortex, astrocyte projection
RGD
PMID:23603404
RGD:8662897
NCBI chr38:22,114,718...22,143,625
Ensembl chr38:22,130,508...22,140,813
G
LGI1
leucine rich glioma inactivated 1
ISO
RGD
PMID:30813600
RGD:14995940
NCBI chr28:7,966,485...8,005,995
Ensembl chr28:7,966,593...8,012,313
G
LIG1
DNA ligase 1
ISO
RGD
PMID:30813600
RGD:14995940
NCBI chr 1:108,105,523...108,143,954
Ensembl chr 1:108,105,987...108,143,953
G
MBD5
methyl-CpG binding domain protein 5
ISO
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:49,815,388...50,250,071
Ensembl chr19:50,186,364...50,247,398
G
NES
nestin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16137769
NCBI chr 7:41,296,395...41,305,641
Ensembl chr 7:41,295,989...41,303,736
G
NGF
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
G
NTF3
neurotrophin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr27:39,383,017...39,454,613
Ensembl chr27:39,383,152...39,454,601
G
OXT
oxytocin/neurophysin I prepropeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4988877 PMID:6407273
NCBI chr24:18,193,381...18,194,232
Ensembl chr24:18,193,339...18,194,170
G
PCDH19
protocadherin 19
ISO
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
NCBI chr X:74,179,609...74,319,138
Ensembl chr X:74,184,772...74,317,391
G
POMC
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4371370
NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440
G
SCN1A
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: tonic-clonic convulsions
ClinVar
PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611
NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496
G
SCN8A
sodium voltage-gated channel alpha subunit 8
ISO
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
PMID:25741868
NCBI chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482
G
SLC25A24
solute carrier family 25 member 24
ISO
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
PMID:25741868
NCBI chr 6:43,424,079...43,476,861
G
SPTAN1
spectrin alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:54,953,751...55,015,475
Ensembl chr 9:54,953,747...55,015,376
G
KCNMA1
potassium calcium-activated channel subfamily M alpha 1
ISO
OMIM
NCBI chr 4:26,844,250...27,338,271
Ensembl chr 4:26,844,250...27,555,776
G
GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
ISO
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus
ClinVar
NCBI chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548
G
SCN1A
sodium voltage-gated channel alpha subunit 1
ISO
DNA:missense mutation:cds:p.V1417A (human) ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus
RGD ClinVar
PMID:11823106 PMID:24337656 PMID:25741868 PMID:26467025 PMID:28492532
RGD:1358571
NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496
G
SCN1B
sodium voltage-gated channel beta subunit 1
ISO
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus
ClinVar
PMID:5421039 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880 PMID:11254444 PMID:11263970 PMID:11866477 PMID:12011299 PMID:12486163 PMID:14504340 PMID:14690046 PMID:15710580 PMID:15857929 PMID:16205844 PMID:17020904 PMID:17928445 PMID:18941776 PMID:20437590 PMID:20628201 PMID:21994374 PMID:22292491 PMID:22425777 PMID:23527921 PMID:23584539 PMID:24065921 PMID:24567321 PMID:24605816 PMID:24623842 PMID:24747835 PMID:25741868 PMID:25827112 PMID:26467025 PMID:27216889 PMID:27277800 PMID:28331474 PMID:28492532 PMID:206282012
NCBI chr 1:117,504,428...117,510,666
Ensembl chr 1:117,503,828...117,511,727
G
SCN9A
sodium voltage-gated channel alpha subunit 9
ISO
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus
ClinVar
PMID:21698661 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255
G
SLC32A1
solute carrier family 32 member 1
ISO
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus
ClinVar
NCBI chr24:27,142,153...27,146,986
Ensembl chr24:27,142,423...27,146,262
G
SCN1A
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1
ClinVar
PMID:9126059 PMID:10521305 PMID:10742094 PMID:11254444 PMID:11254445 PMID:11524484 PMID:11567038 PMID:11756608 PMID:12086636 PMID:12576172 PMID:12919402 PMID:14672992 PMID:14702334 PMID:16075041 PMID:16525050 PMID:17507202 PMID:17561957 PMID:18413471 PMID:18804930 PMID:18930999 PMID:19464195 PMID:20117752 PMID:20522430 PMID:20550552 PMID:20600615 PMID:20729507 PMID:22780858 PMID:23195492 PMID:25348405 PMID:25576396 PMID:25741868 PMID:26096185 PMID:27066544 PMID:28192756 PMID:28492532
NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496
G
SCN1B
sodium voltage-gated channel beta subunit 1
ISO
OMIM
NCBI chr 1:117,504,428...117,510,666
Ensembl chr 1:117,503,828...117,511,727
G
HCN1
hyperpolarization activated cyclic nucleotide gated potassium channel 1
ISO
OMIM
NCBI chr 4:64,777,069...65,162,603
Ensembl chr 4:64,775,577...65,160,444
G
SCN1A
sodium voltage-gated channel alpha subunit 1
ISO
OMIM
NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496
G
SCN9A
sodium voltage-gated channel alpha subunit 9
ISO
OMIM
NCBI chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255
G
STX1B
syntaxin 1B
ISO
OMIM
NCBI chr 6:17,209,972...17,219,903
Ensembl chr 6:17,210,433...17,241,363
G
STX4
syntaxin 4
ISO
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9
ClinVar
PMID:25362483 PMID:26818399 PMID:28492532
NCBI chr 6:17,184,044...17,189,481
Ensembl chr 6:17,184,399...17,189,370
G
ZNF668
zinc finger protein 668
ISO
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 9
ClinVar
PMID:25362483 PMID:26818399 PMID:28492532
NCBI chr 6:17,157,767...17,166,397
Ensembl chr 6:17,158,384...17,166,174
G
GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
ISO
ClinVar Annotator: match by term: GEFS+, TYPE 3
ClinVar
PMID:23708187 PMID:25726841 PMID:25730860 PMID:27864268 PMID:28492532 PMID:29100083 PMID:29358611
NCBI chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548
G
GABRD
gamma-aminobutyric acid type A receptor subunit delta
ISO
ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus type 5
ClinVar
PMID:15115768 PMID:16023832 PMID:16256272 PMID:16452673 PMID:17559416 PMID:23216579 PMID:26467025 PMID:28383543 PMID:28492532
NCBI chr 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358
G
ABCA3
ATP binding cassette subfamily A member 3
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,679,312...38,712,868
Ensembl chr 6:38,679,324...38,712,648
G
ANKRD65
ankyrin repeat domain 65
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,564,686...56,568,194
Ensembl chr 5:56,565,514...56,567,376
G
ANTKMT
adenine nucleotide translocase lysine methyltransferase
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,861,436...39,863,872
G
ATAD3A
ATPase family AAA domain containing 3A
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,587,385...56,613,475
Ensembl chr 5:56,587,428...56,612,746
G
AURKAIP1
aurora kinase A interacting protein 1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,539,987...56,541,578
Ensembl chr 5:56,539,991...56,541,388
G
BAIAP3
BAI1 associated protein 3
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,421,019...39,434,539
Ensembl chr 6:39,427,520...39,435,596
G
BRICD5
BRICHOS domain containing 5
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,760,164...38,761,718
Ensembl chr 6:38,758,254...38,761,735
G
C6H16orf91
chromosome 6 C16orf91 homolog
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,372,695...39,375,081
Ensembl chr 6:39,373,227...39,373,821
G
CACNA1H
calcium voltage-gated channel subunit alpha1 H
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 PMID:15888660 PMID:16754686 PMID:17696120 PMID:21703448 PMID:23757202 PMID:24277868 PMID:24972929 PMID:25741868 PMID:25773295 PMID:25907736 PMID:26467025 PMID:26706850 PMID:27066544 PMID:27148582 PMID:27331657 PMID:27729216 PMID:28492532 PMID:28842445 PMID:29588962 PMID:29924869 PMID:29948376 PMID:31070086 PMID:31139143
NCBI chr 6:39,510,129...39,533,129
Ensembl chr 6:39,510,121...39,533,753
G
CACNB4
calcium voltage-gated channel auxiliary subunit beta 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Idiopathic generalized epilepsy
CTD ClinVar
PMID:10762541 PMID:18755274 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr19:52,987,170...53,116,410
Ensembl chr19:52,993,618...53,116,140
G
CALML6
calmodulin like 6
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,901,401...56,904,422
Ensembl chr 5:56,901,715...56,904,424
G
CASKIN1
CASK interacting protein 1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,776,710...38,788,253
Ensembl chr 6:38,776,710...38,786,727
G
CASR
calcium sensing receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Idiopathic generalized epilepsy
CTD ClinVar
PMID:25741868
NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559
G
CCDC154
coiled-coil domain containing 154
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,356,234...39,364,053
Ensembl chr 6:39,357,273...39,364,740
G
CCDC78
coiled-coil domain containing 78
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,857,182...39,861,437
Ensembl chr 6:39,857,304...39,875,418
G
CCNF
cyclin F
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,572,883...38,592,465
Ensembl chr 6:38,574,234...38,592,435
G
CCNL2
cyclin L2
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,542,358...56,550,701
Ensembl chr 5:56,542,566...56,550,691
G
CFAP74
cilia and flagella associated protein 74
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,909,092...56,970,980
Ensembl chr 5:56,909,486...56,961,903
G
CHTF18
chromosome transmission fidelity factor 18
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,806,924...39,815,145
Ensembl chr 6:39,806,673...39,815,333
G
CIAO3
cytosolic iron-sulfur assembly component 3
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,846,782...39,853,952
Ensembl chr 6:39,846,856...39,853,956
G
CILK1
ciliogenesis associated kinase 1
ISO
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10
ClinVar
PMID:29539279
NCBI chr12:20,453,322...20,511,463
Ensembl chr12:20,450,834...20,511,673
G
CLCN2
chloride voltage-gated channel 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr34:17,224,136...17,238,755
Ensembl chr34:17,223,215...17,239,621
G
CLCN7
chloride voltage-gated channel 7
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,331,100...39,356,477
Ensembl chr 6:39,331,170...39,364,991
G
CPTP
ceramide-1-phosphate transfer protein
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,498,163...56,501,918
Ensembl chr 5:56,498,207...56,500,845
G
CRAMP1
cramped chromatin regulator homolog 1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,202,267...39,245,851
Ensembl chr 6:39,203,546...39,245,911
G
DNASE1L2
deoxyribonuclease 1 like 2
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
G
DVL1
dishevelled segment polarity protein 1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,507,803...56,519,382
Ensembl chr 5:56,507,739...56,519,491
G
E4F1
E4F transcription factor 1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,743,346...38,752,427
Ensembl chr 6:38,743,355...38,752,403
G
ECI1
enoyl-CoA delta isomerase 1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,729,729...38,738,357
Ensembl chr 6:38,730,219...38,738,219
G
EME2
essential meiotic structure-specific endonuclease subunit 2
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,127,433...39,129,487
G
FAHD1
fumarylacetoacetate hydrolase domain containing 1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,082,536...39,084,248
Ensembl chr 6:39,070,562...39,083,971
G
FBXL16
F-box and leucine rich repeat protein 16
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,879,314...39,884,995
Ensembl chr 6:39,880,518...39,888,020
G
FNDC10
fibronectin type III domain containing 10
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,660,721...56,662,696
G
GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:16530959 PMID:16569738 PMID:16718694 PMID:18414213 PMID:22190369 PMID:24623842 PMID:24811917 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27353043 PMID:27521439 PMID:27622563 PMID:28251550 PMID:28492532 PMID:28864462 PMID:29186148 PMID:29655203 PMID:32238909
NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581
G
GABRA6
gamma-aminobutyric acid type A receptor subunit alpha6
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:22190369 PMID:24811917 PMID:28492532
NCBI chr 4:49,208,691...49,225,754
Ensembl chr 4:49,208,605...49,226,212
G
GABRB2
gamma-aminobutyric acid type A receptor subunit beta2
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:22190369 PMID:24811917 PMID:28492532
NCBI chr 4:49,342,527...49,579,697
Ensembl chr 4:49,342,508...49,578,092
G
GABRD
gamma-aminobutyric acid type A receptor subunit delta
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Idiopathic generalized epilepsy
CTD ClinVar
PMID:15115768 PMID:16023832 PMID:16256272 PMID:16452673 PMID:17559416 PMID:20352446 PMID:23216579 PMID:24249596 PMID:25741868 PMID:26467025 PMID:28383543 PMID:28492532
NCBI chr 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358
G
GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:22190369 PMID:24811917 PMID:28492532
NCBI chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548
G
GFER
growth factor, augmenter of liver regeneration
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,948,927...38,951,300
Ensembl chr 6:38,949,484...38,951,703
G
GNB1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295
G
GNG13
G protein subunit gamma 13
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,800,092...39,806,959
Ensembl chr 6:39,806,528...39,806,871
G
GNPTG
N-acetylglucosamine-1-phosphate transferase subunit gamma
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,405,801...39,418,672
Ensembl chr 6:39,405,809...39,419,392
G
HAGH
hydroxyacylglutathione hydrolase
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,076,364...39,105,646
Ensembl chr 6:39,084,513...39,105,592
G
HAGHL
hydroxyacylglutathione hydrolase like
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,853,979...39,857,041
Ensembl chr 6:39,854,038...39,857,283
G
IFT140
intraflagellar transport 140
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,262,887...39,308,912
Ensembl chr 6:39,295,045...39,308,758
G
IGFALS
insulin like growth factor binding protein acid labile subunit
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,115,744...39,118,831
Ensembl chr 6:39,114,315...39,119,652
G
INTS11
integrator complex subunit 11
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,485,690...56,498,074
Ensembl chr 5:56,485,948...56,498,017
G
JMJD8
jumonji domain containing 8
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,891,930...39,894,549
Ensembl chr 6:39,891,926...39,927,919
G
JPT2
Jupiter microtubule associated homolog 2
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,181,488...39,201,903
Ensembl chr 6:39,185,213...39,201,890
G
LMF1
lipase maturation factor 1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,682,229...39,768,311
Ensembl chr 6:39,696,442...39,762,709
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LOC100049001
tryptase
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,505,485...39,506,909
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LOC100688918
putative inactive serine protease 58
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr16:7,332,108...7,380,287
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LOC119881520
phosphoglycolate phosphatase
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
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LOC489590
solute carrier family 35 member E2A
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,715,798...56,739,464
Ensembl chr 5:56,718,550...56,738,420
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LOC489591
cyclin-dependent kinase 11B
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,698,267...56,714,075
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LOC611363
mesothelin
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,827,985...39,834,945
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MAPK8IP3
mitogen-activated protein kinase 8 interacting protein 3
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,132,746...39,179,427
Ensembl chr 6:39,133,965...39,179,505
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MCRIP2
MAPK regulated corepressor interacting protein 2
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,921,947...39,922,873
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MEIOB
meiosis specific with OB-fold
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,048,335...39,075,957
Ensembl chr 6:39,048,278...39,076,035
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METRN
meteorin, glial cell differentiation regulator
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,864,731...39,867,729
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METTL26
methyltransferase like 26
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,932,040...39,933,659
Ensembl chr 6:39,931,968...39,933,670
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MIB2
MIB E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,680,526...56,693,551
Ensembl chr 5:56,581,550...56,693,544
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MLST8
MTOR associated protein, LST8 homolog
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,759,713...38,765,556
Ensembl chr 6:38,762,103...38,765,488
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MMP23
matrix metallopeptidase 23
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,693,751...56,697,284
Ensembl chr 5:56,694,966...56,697,284
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MRPL20
mitochondrial ribosomal protein L20
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,553,326...56,558,182
Ensembl chr 5:56,553,331...56,558,136
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MRPS34
mitochondrial ribosomal protein S34
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,130,597...39,131,643
Ensembl chr 6:39,130,561...39,131,648
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MSRB1
methionine sulfoxide reductase B1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,981,721...38,986,459
Ensembl chr 6:38,981,721...38,986,459
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MXRA8
matrix remodeling associated 8
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,522,283...56,526,750
Ensembl chr 5:56,522,470...56,526,668
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NADK
NAD kinase
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,743,920...56,774,578
Ensembl chr 5:56,745,869...56,774,529
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NDUFB10
NADH:ubiquinone oxidoreductase subunit B10
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,968,737...38,971,214
Ensembl chr 6:38,968,742...38,971,196
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NME3
NME/NM23 nucleoside diphosphate kinase 3
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,131,807...39,132,756
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NOXO1
NADPH oxidase organizer 1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,951,926...38,956,134
Ensembl chr 6:38,953,741...38,956,115
G
NPW
neuropeptide W
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 9:552,402...554,062
G
NTHL1
nth like DNA glycosylase 1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,899,144...38,904,637
Ensembl chr 6:38,899,126...38,905,622
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NTN3
netrin 3
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,558,942...38,561,437
Ensembl chr 6:38,558,150...38,561,323
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NUBP2
nucleotide binding protein 2
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,119,332...39,121,869
Ensembl chr 6:39,119,337...39,122,370
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PIGQ
phosphatidylinositol glycan anchor biosynthesis class Q
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,971,069...39,980,128
Ensembl chr 6:39,971,057...39,981,039
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PKD1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,811,051...38,865,503
Ensembl chr 6:38,837,964...38,865,503
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PTX4
pentraxin 4
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,320,647...39,328,256
Ensembl chr 6:39,322,920...39,327,711
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RAB26
RAB26, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,806,750...38,812,541
Ensembl chr 6:38,807,487...38,812,379
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RAB40C
RAB40C, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,937,858...39,968,042
Ensembl chr 6:39,939,004...39,945,765
G
RBFOX1
RNA binding fox-1 homolog 1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:23286373 PMID:25741868 PMID:26467025 PMID:28346479 PMID:28492532 PMID:29358611
NCBI chr 6:34,218,276...36,255,529
Ensembl chr 6:34,220,648...36,255,384
G
RBFOX3
RNA binding fox-1 homolog 3
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:2,362,354...2,374,492
Ensembl chr 9:2,362,231...2,372,739
G
RHBDL1
rhomboid like 1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,896,982...39,899,219
Ensembl chr 6:39,896,969...39,899,266
G
RHOT2
ras homolog family member T2
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,900,889...39,905,624
Ensembl chr 6:39,901,062...39,922,320
G
RNF151
ring finger protein 151
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,963,012...38,965,114
Ensembl chr 6:38,963,034...38,964,999
G
RNPS1
RNA binding protein with serine rich domain 1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,719,713...38,729,437
Ensembl chr 6:38,719,792...38,728,773
G
RPL3L
ribosomal protein L3 like
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,971,098...38,981,466
Ensembl chr 6:38,974,018...38,982,012
G
RPS2
ribosomal protein S2
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,966,830...38,968,743
G
RPUSD1
RNA pseudouridine synthase domain containing 1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,815,405...39,818,151
Ensembl chr 6:39,803,930...39,828,899
G
SLC12A5
solute carrier family 12 member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr24:33,285,773...33,322,885
Ensembl chr24:33,285,852...33,321,567
G
SLC9A3R2
SLC9A3 regulator 2
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,905,070...38,915,028
Ensembl chr 6:38,905,635...38,942,774
G
SOX8
SRY-box transcription factor 8
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,667,941...39,672,716
Ensembl chr 6:39,668,232...39,672,638
G
SPSB3
splA/ryanodine receptor domain and SOCS box containing 3
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,122,148...39,127,444
Ensembl chr 6:39,122,247...39,127,446
G
SSTR5
somatostatin receptor 5
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,608,813...39,610,138
G
SSU72
SSU72 homolog, RNA polymerase II CTD phosphatase
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,620,803...56,650,131
Ensembl chr 5:56,620,805...56,650,131
G
STUB1
STIP1 homology and U-box containing protein 1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,893,492...39,895,385
Ensembl chr 6:39,893,670...39,897,573
G
SYNGR3
synaptogyrin 3
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,941,933...38,944,110
G
TAS1R3
taste 1 receptor member 3
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,503,720...56,506,883
Ensembl chr 5:56,503,720...56,506,898
G
TBC1D24
TBC1 domain family member 24
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,531,547...38,557,472
G
TBL3
transducin beta like 3
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,956,227...38,962,189
Ensembl chr 6:38,788,454...38,962,167
G
TEDC2
tubulin epsilon and delta complex 2
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,567,365...38,571,451
Ensembl chr 6:38,567,547...38,571,341
G
TELO2
telomere maintenance 2
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,309,224...39,320,215
Ensembl chr 6:39,310,466...39,359,491
G
TMEM204
transmembrane protein 204
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,274,853...39,290,255
Ensembl chr 6:39,275,373...39,289,711
G
TMEM240
transmembrane protein 240
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,613,561...56,619,693
Ensembl chr 5:56,614,201...56,619,693
G
TMEM52
transmembrane protein 52
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,900,297...56,906,565
Ensembl chr 5:56,901,674...56,906,500
G
TMEM88B
transmembrane protein 88B
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,569,512...56,573,353
Ensembl chr 5:56,569,814...56,571,310
G
TRAF7
TNF receptor associated factor 7
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,788,451...38,805,666
Ensembl chr 6:38,788,454...38,962,167
G
TSC2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960
G
TSR3
TSR3 ribosome maturation factor
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,418,737...39,421,524
Ensembl chr 6:39,368,492...39,421,208
G
UBE2I
ubiquitin conjugating enzyme E2 I
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,440,123...39,453,688
Ensembl chr 6:39,440,314...39,817,588
G
UNKL
unk like zinc finger
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,382,858...39,405,954
Ensembl chr 6:39,376,488...39,404,885
G
VWA1
von Willebrand factor A domain containing 1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 5:56,578,256...56,583,552
Ensembl chr 5:56,578,297...56,582,502
G
WDR24
WD repeat domain 24
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,887,968...39,891,633
Ensembl chr 6:39,887,667...39,891,588
G
WDR90
WD repeat domain 90
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,906,403...39,921,516
Ensembl chr 6:39,901,062...39,922,320
G
WFIKKN1
WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:39,934,105...39,937,666
Ensembl chr 6:39,934,068...39,936,628
G
ZNF598
zinc finger protein 598, E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Idiopathic generalized epilepsy
ClinVar
PMID:28492532
NCBI chr 6:38,928,845...38,939,768
Ensembl chr 6:38,928,839...38,957,780
G
GABRD
gamma-aminobutyric acid type A receptor subunit delta
susceptibility
ISO
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 10 ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10
OMIM ClinVar
PMID:15115768 PMID:16023832 PMID:16256272 PMID:16452673 PMID:17559416 PMID:23216579 PMID:25194483 PMID:25741868 PMID:26467025 PMID:28383543 PMID:28492532
NCBI chr 5:56,984,786...56,994,790
Ensembl chr 5:56,984,913...56,994,358
G
CLCN2
chloride voltage-gated channel 2
susceptibility
ISO
ClinVar Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
OMIM ClinVar
PMID:12612585 PMID:15252188 PMID:15505175 PMID:16932951 PMID:17567819 PMID:19191339 PMID:19710712 PMID:21703448 PMID:25741868
NCBI chr34:17,224,136...17,238,755
Ensembl chr34:17,223,215...17,239,621
G
SLC2A1
solute carrier family 2 member 1
susceptibility
ISO
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 12
OMIM ClinVar
PMID:10980529 PMID:11477212 PMID:16949238 PMID:17052934 PMID:19798636 PMID:20417043 PMID:21069159 PMID:21135204 PMID:21555602 PMID:22282645 PMID:23280796 PMID:23340081 PMID:23448551 PMID:25487684 PMID:25741868 PMID:25982116 PMID:28492532 PMID:28717674
NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140
G
GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1
susceptibility
ISO
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5
OMIM ClinVar
PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 PMID:20551311 PMID:21714819 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532
NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581
G
SLC12A5
solute carrier family 12 member 5
susceptibility
ISO
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 14
OMIM ClinVar
PMID:24668262 PMID:24928908 PMID:25741868 PMID:27535533 PMID:28492532
NCBI chr24:33,285,773...33,322,885
Ensembl chr24:33,285,852...33,321,567
G
RORB
RAR related orphan receptor B
susceptibility
ISO
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 15
OMIM ClinVar
PMID:25356972 PMID:25741868 PMID:27352968
NCBI chr 1:83,470,569...83,666,200
Ensembl chr 1:83,476,816...83,666,061
G
KCNMA1
potassium calcium-activated channel subfamily M alpha 1
susceptibility
ISO
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16
OMIM ClinVar
PMID:25741868
NCBI chr 4:26,844,250...27,338,271
Ensembl chr 4:26,844,250...27,555,776
G
CHRNA7
cholinergic receptor nicotinic alpha 7 subunit
ISO
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 7
ClinVar
PMID:25326635 PMID:25741868
NCBI chr 3:36,852,082...37,164,930
Ensembl chr 3:36,852,543...36,978,399
G
CASR
calcium sensing receptor
susceptibility
ISO
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 8
OMIM ClinVar
PMID:18756473 PMID:20798521 PMID:28492532
NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559
G
CACNB4
calcium voltage-gated channel auxiliary subunit beta 4
susceptibility
ISO
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6 ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 9
OMIM ClinVar
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr19:52,987,170...53,116,410
Ensembl chr19:52,993,618...53,116,140
G
PPP3CA
protein phosphatase 3 catalytic subunit alpha
ISO
OMIM
NCBI chr32:22,688,141...22,996,693
Ensembl chr32:22,688,143...22,996,688
G
GABRB2
gamma-aminobutyric acid type A receptor subunit beta2
ISO
OMIM
NCBI chr 4:49,342,527...49,579,697
Ensembl chr 4:49,342,508...49,578,092
G
ATP6V1A
ATPase H+ transporting V1 subunit A
ISO
OMIM
NCBI chr33:18,038,143...18,103,649
Ensembl chr33:18,038,801...18,101,435
G
EFHC1
EF-hand domain containing 1
susceptibility
ISO
ClinVar Annotator: match by term: Epilepsy, juvenile absence, susceptibility to, 1
OMIM ClinVar
PMID:17159113 PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr12:20,068,287...20,131,621
Ensembl chr12:20,067,881...20,131,619
G
SLC6A1
solute carrier family 6 member 1
ISO
OMIM
NCBI chr20:7,341,071...7,383,197
Ensembl chr20:7,341,072...7,383,287
G
FZD4
frizzled class receptor 4
ISO
ClinVar Annotator: match by term: Atrophia bulborum hereditaria
ClinVar
PMID:14507768 PMID:15035989 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669
NCBI chr21:12,699,886...12,709,132
Ensembl chr21:12,699,774...12,724,923
G
NDP
norrin cystine knot growth factor NDP
ISO
OMIM
NCBI chr X:37,949,560...37,975,573
Ensembl chr X:37,950,489...37,975,346
G
PRSS23
serine protease 23
ISO
ClinVar Annotator: match by term: Atrophia bulborum hereditaria
ClinVar
PMID:14507768 PMID:15035989 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669
NCBI chr21:12,792,212...12,813,067
Ensembl chr21:12,793,373...12,803,136
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TSPAN12
tetraspanin 12
ISO
ClinVar Annotator: match by term: Atrophia bulborum hereditaria
ClinVar
PMID:25250762
NCBI chr14:58,941,658...59,005,507
Ensembl chr14:58,941,551...59,005,463
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CCDC88A
coiled-coil domain containing 88A
ISO
ClinVar Annotator: match by term: Peho-like syndrome
ClinVar
PMID:26917597
NCBI chr10:56,167,907...56,300,974
Ensembl chr10:56,170,479...56,300,908
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IGF1
insulin like growth factor 1
ISO
protein:decreased expression:cerebrospinal fluid:
RGD
PMID:11701291
RGD:8548849
NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
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KIF1A
kinesin family member 1A
ISO
ClinVar Annotator: match by term: PEHO syndrome
ClinVar
PMID:21376300 PMID:25253658 PMID:25265257 PMID:25741868 PMID:26125038 PMID:26486474 PMID:28492532 PMID:31805580
NCBI chr25:50,855,703...50,945,014
Ensembl chr25:50,858,698...50,944,964
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ZNHIT3
zinc finger HIT-type containing 3
ISO
OMIM
NCBI chr 9:36,378,226...36,383,906
Ensembl chr 9:36,378,211...36,383,966
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ABAT
4-aminobutyrate aminotransferase
treatment
ISO
RGD
PMID:24321005
RGD:9588540
NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
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ARX
aristaless related homeobox
ISO
RGD
PMID:19439424
RGD:11565833
NCBI chr X:20,545,346...20,556,206
Ensembl chr X:20,545,346...20,556,206
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CBS
cystathionine beta-synthase
ISO
ClinVar Annotator: match by term: Infantile spasms
ClinVar
PMID:10338090 PMID:12124992 PMID:15365998 PMID:16479318 PMID:25741868 PMID:28492532 PMID:29352562
NCBI chr31:37,230,900...37,247,170
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CDKL5
cyclin dependent kinase like 5
ISO
ClinVar Annotator: match by term: West syndrome ClinVar Annotator: match by term: Infantile spasms
ClinVar
PMID:16813600 PMID:18414213 PMID:18790821 PMID:21775177 PMID:22867051 PMID:25741868 PMID:28492532
NCBI chr X:14,512,226...14,725,348
Ensembl chr X:14,512,178...14,725,233
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CFL1
cofilin 1
ISO
protein:decreased expression:brain (rat)
RGD
PMID:24994451
RGD:11570411
NCBI chr18:51,404,649...51,408,240
Ensembl chr18:51,401,659...51,408,212
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CRH
corticotropin releasing hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11341487
NCBI chr29:15,831,944...15,840,560
Ensembl chr29:15,831,944...15,834,384
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GAD1
glutamate decarboxylase 1
ISO
ClinVar Annotator: match by term: Infantile spasms
ClinVar
PMID:22662185
NCBI chr36:15,351,289...15,391,701
Ensembl chr36:15,349,683...15,391,824
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HSD17B4
hydroxysteroid 17-beta dehydrogenase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16919904
NCBI chr11:8,717,182...8,810,716
Ensembl chr11:8,717,349...8,824,594
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LOC481187
protein SCO2 homolog, mitochondrial
ISO
ClinVar Annotator: match by term: Salaam seizures
ClinVar
PMID:10852545 PMID:12529715 PMID:19853446 PMID:24033266 PMID:25741868
NCBI chr10:16,783,116...16,790,011
Ensembl chr10:16,788,287...16,790,247
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MC2R
melanocortin 2 receptor
ISO
DNA:snps:promoter:multiple (human)
RGD
PMID:19024088
RGD:6484693
NCBI chr 1:24,351,219...24,390,071
Ensembl chr 1:24,388,280...24,389,170
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PIK3AP1
phosphoinositide-3-kinase adaptor protein 1
ISO
ClinVar Annotator: match by term: Infantile spasms ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant
ClinVar
PMID:25262651 PMID:28492532
NCBI chr28:9,977,463...10,095,363
Ensembl chr28:9,978,900...10,095,284
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PLCB1
phospholipase C beta 1
ISO
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive
ClinVar
PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr24:13,337,285...13,996,218
Ensembl chr24:13,322,296...13,995,539
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POMC
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:1324751 PMID:1327015 PMID:1656808 PMID:1965992 PMID:2551692 PMID:2554740 PMID:2853496 PMID:2983143 PMID:6107850 PMID:6143199 PMID:6254450 PMID:6259007 PMID:8381257 PMID:8928979 PMID:8980841 PMID:10908253 PMID:11341487 PMID:17287597 PMID:19039989 PMID:20078871
NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440
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RALGAPA1
Ral GTPase activating protein catalytic subunit alpha 1
ISO
ClinVar Annotator: match by term: Infantile spasms
ClinVar
PMID:32004447
NCBI chr 8:14,221,516...14,463,481
Ensembl chr 8:14,222,749...14,462,998
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RS1
retinoschisin 1
ISO
ClinVar Annotator: match by term: West syndrome
ClinVar
PMID:16813600 PMID:18414213 PMID:21775177 PMID:22867051 PMID:25741868 PMID:28492532
NCBI chr X:14,727,016...14,749,674
Ensembl chr X:14,727,062...14,749,492
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SCN1A
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: West syndrome
ClinVar
PMID:14504318 PMID:18804930 PMID:25348405 PMID:25741868 PMID:28492532
NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496
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SCN2A
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant ClinVar Annotator: match by term: Infantile spasms
ClinVar
PMID:25741868 PMID:28492532
NCBI chr36:10,472,496...10,605,055
Ensembl chr36:10,472,361...10,602,685
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SCN8A
sodium voltage-gated channel alpha subunit 8
ISO
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant
ClinVar
NCBI chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482
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SLC25A22
solute carrier family 25 member 22
ISO
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Recessive
ClinVar
PMID:28492532
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SPTAN1
spectrin alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant
ClinVar
PMID:28492532
NCBI chr 9:54,953,751...55,015,475
Ensembl chr 9:54,953,747...55,015,376
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STXBP1
syntaxin binding protein 1
ISO
DNA:missense mutations, nonsense mutation, splice-site mutations:exon, intron:multiple ClinVar Annotator: match by term: Infantile spasms ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy, Autosomal Dominant
RGD ClinVar
PMID:22612257 PMID:23409955 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26865513
RGD:12903963
NCBI chr 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680
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TSC1
TSC complex subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18345974
NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677
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TSC2
TSC complex subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18345974
NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960
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UPB1
beta-ureidopropionase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18853477
NCBI chr26:28,194,968...28,225,977
Ensembl chr26:28,195,081...28,225,567
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