|
G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Absence seizures |
ClinVar |
PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
|
|
G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Absence seizures |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955449:7,858,156...8,017,569
Ensembl chrNW_004955449:7,923,801...8,017,569
|
|
|
G |
Asah1 |
N-acylsphingosine amidohydrolase 1 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955552:1,623,263...1,660,285
Ensembl chrNW_004955552:1,623,738...1,659,086
|
|
G |
Chd2 |
chromodomain helicase DNA binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955416:21,085,570...21,210,321
|
|
G |
Cntnap2 |
contactin associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:18179895 PMID:22872700 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 PMID:29788201 |
|
NCBI chrNW_004955491:1,983,002...3,982,510
Ensembl chrNW_004955491:1,984,050...3,981,830
|
|
G |
Cpa6 |
carboxypeptidase A6 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 PMID:28492532 PMID:28761347 PMID:29358611 PMID:32581362 |
|
NCBI chrNW_004955444:11,624,842...11,922,293
Ensembl chrNW_004955444:11,624,806...11,921,509
|
|
G |
Cstb |
cystatin B |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:8596935 PMID:9054946 PMID:15329070 PMID:15483648 PMID:16155205 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:25741868 PMID:26843564 PMID:29358611 |
|
NCBI chrNW_004955407:41,475,533...41,478,943
Ensembl chrNW_004955407:41,475,533...41,479,150
|
|
G |
Depdc5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:24591017 PMID:25366275 PMID:25741868 PMID:26505888 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955455:5,881,631...6,005,514
|
|
G |
Epm2a |
EPM2A glucan phosphatase, laforin |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:29358611 |
|
NCBI chrNW_004955436:14,925,452...14,982,357
Ensembl chrNW_004955436:14,926,123...14,983,180
|
|
G |
Gabrg2 |
gamma-aminobutyric acid type A receptor gamma2 subunit |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23708187 PMID:25726841 PMID:25730860 PMID:27864268 PMID:28492532 PMID:29100083 PMID:29358611 |
|
NCBI chrNW_004955408:15,766,161...15,857,121
Ensembl chrNW_004955408:15,765,984...15,857,244
|
|
G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:29358611 |
|
NCBI chrNW_004955513:5,154,864...5,178,636
Ensembl chrNW_004955513:5,154,864...5,178,636
|
|
G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rolandic epilepsy |
CTD ClinVar |
PMID:7574460 PMID:18414213 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26467025 PMID:26601054 PMID:27288002 PMID:28102150 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955442:8,171,114...8,565,187
Ensembl chrNW_004955442:8,174,232...8,562,059
|
|
G |
Ier3ip1 |
immediate early response 3 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:29358611 |
|
NCBI chrNW_004955402:32,532,692...32,550,638
|
|
G |
Kcnq2 |
potassium voltage-gated channel subfamily Q member 2 |
|
ISO |
ClinVar Annotator: match by term: Benign Rolandic epilepsy |
ClinVar |
PMID:18625963 |
|
NCBI chrNW_004955528:737,416...792,885
Ensembl chrNW_004955528:737,416...791,321
|
|
G |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:18625963 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955461:6,793,877...7,119,859
Ensembl chrNW_004955461:6,797,018...7,119,569
|
|
G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955513:4,712,772...4,765,657
Ensembl chrNW_004955513:4,712,516...4,765,657
|
|
G |
Maf |
MAF bZIP transcription factor |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955522:2,514,313...2,519,694
|
|
G |
Pcdh19 |
protocadherin 19 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:18414213 PMID:19214208 PMID:19752159 PMID:20713952 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955503:6,428,894...6,567,253
Ensembl chrNW_004955503:6,434,047...6,567,253
|
|
G |
Plcb1 |
phospholipase C beta 1 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:29358611 |
|
NCBI chrNW_004955415:18,210,608...18,915,099
Ensembl chrNW_004955415:18,210,662...18,915,158
|
|
G |
Prickle1 |
prickle planar cell polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:21901791 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955500:1,897,899...1,990,791
Ensembl chrNW_004955500:1,897,912...1,990,875
|
|
G |
Prickle2 |
prickle planar cell polarity protein 2 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955517:1,501,322...1,806,996
Ensembl chrNW_004955517:1,501,706...1,802,169
|
|
G |
Rbfox1 |
RNA binding fox-1 homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:26467025 PMID:28346479 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955442:10,345,261...10,694,602
Ensembl chrNW_004955442:10,344,365...10,908,434
|
|
G |
Rbfox3 |
RNA binding fox-1 homolog 3 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:29358611 |
|
NCBI chrNW_004955506:3,243,637...3,646,789
Ensembl chrNW_004955506:3,624,378...3,646,789
|
|
G |
Reln |
reelin |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:14515139 PMID:14593429 PMID:20697953 PMID:24828792 PMID:25620207 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955410:8,424,439...8,863,966
Ensembl chrNW_004955410:8,424,394...8,863,969
|
|
G |
Scarb2 |
scavenger receptor class B member 2 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955433:884,740...962,932
Ensembl chrNW_004955433:884,740...962,932
|
|
G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:11254445 PMID:12610651 PMID:18021921 PMID:19200853 PMID:19522081 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23195492 PMID:23398611 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
|
|
G |
Scn1b |
sodium voltage-gated channel beta subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:29358611 |
|
NCBI chrNW_004955468:4,375,517...4,383,383
Ensembl chrNW_004955468:4,375,157...4,383,502
|
|
G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955449:8,722,043...8,846,165
Ensembl chrNW_004955449:8,721,784...8,846,200
|
|
G |
Scn9a |
sodium voltage-gated channel alpha subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:18414213 PMID:20478850 PMID:24776970 PMID:24848745 PMID:25250524 PMID:25741868 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955449:7,858,156...8,017,569
Ensembl chrNW_004955449:7,923,801...8,017,569
|
|
G |
Slc2a1 |
solute carrier family 2 member 1 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:29358611 |
|
NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511
|
|
G |
Slc6a1 |
solute carrier family 6 member 1 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:29358611 |
|
NCBI chrNW_004955429:13,930,899...13,946,010
Ensembl chrNW_004955429:13,930,905...13,947,389
|
|
G |
Snip1 |
Smad nuclear interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:29358611 |
|
NCBI chrNW_004955452:15,352,080...15,365,545
Ensembl chrNW_004955452:15,353,182...15,365,459
|
|
G |
Sptan1 |
spectrin alpha, non-erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:25224718 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955570:1,016,510...1,076,499
Ensembl chrNW_004955570:1,016,510...1,076,499
|
|
G |
Strada |
STE20 related adaptor alpha |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955478:8,082,075...8,116,320
Ensembl chrNW_004955478:8,082,075...8,116,543
|
|
G |
Szt2 |
SZT2 subunit of KICSTOR complex |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955537:2,968,839...3,017,863
Ensembl chrNW_004955537:2,968,839...3,017,863
|
|
G |
Tbc1d24 |
TBC1 domain family member 24 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:24033266 PMID:26467025 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955442:14,816,213...14,823,132
|
|
G |
Wwox |
WW domain containing oxidoreductase |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 |
|
NCBI chrNW_004955522:1,265,732...2,185,372
Ensembl chrNW_004955522:1,265,404...2,184,562
|
|
|
G |
Cacna1a |
calcium voltage-gated channel subunit alpha1 A |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:mutation:cds:752T>A (p.M251K)(rat) |
CTD RGD |
PMID:17196942 |
RGD:1598976 |
NCBI chrNW_004955415:32,182,536...32,457,511
Ensembl chrNW_004955415:32,183,442...32,400,595
|
|
G |
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:16754686 PMID:17696120 PMID:25741868 PMID:26467025 PMID:28492532 |
RGD:1358447 |
NCBI chrNW_004955442:16,047,965...16,108,862
Ensembl chrNW_004955442:16,045,895...16,108,862
|
|
G |
Cacna2d2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14660671 |
|
NCBI chrNW_004955532:2,163,529...2,283,509
Ensembl chrNW_004955532:2,163,529...2,283,508
|
|
G |
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 chrNW_004955413:23,136,369...23,248,231
Ensembl chrNW_004955413:23,132,896...23,248,231
|
|
G |
Cacng3 |
calcium voltage-gated channel auxiliary subunit gamma 3 |
|
ISO |
|
RGD |
PMID:11904235 |
RGD:728397 |
NCBI chrNW_004955493:2,742,096...2,841,353
Ensembl chrNW_004955493:2,742,096...2,841,403
|
|
G |
Efhc1 |
EF-hand domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chrNW_004955411:5,624,510...5,676,165
Ensembl chrNW_004955411:5,624,053...5,677,534
|
|
G |
Gabra1 |
gamma-aminobutyric acid type A receptor alpha1 subunit |
|
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 chrNW_004955408:15,608,984...15,662,309
Ensembl chrNW_004955408:15,608,984...15,662,597
|
|
G |
Gabra6 |
gamma-aminobutyric acid type A receptor alpha6 subunit |
|
ISO |
ClinVar Annotator: match by term: Childhood absence epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955408:15,464,426...15,479,653
Ensembl chrNW_004955408:15,464,368...15,480,330
|
|
G |
Gabrb3 |
gamma-aminobutyric acid type A receptor beta3 subunit |
susceptibility |
ISO |
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 CTD Direct Evidence: marker/mechanism DNA:SNPs |
OMIM ClinVar CTD RGD |
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 chrNW_004955533:2,879,437...2,938,952
Ensembl chrNW_004955533:2,573,599...2,938,952
|
|
G |
Gabrg2 |
gamma-aminobutyric acid type A receptor gamma2 subunit |
|
ISO |
DNA:snp:intron:IVS6+2T>G (human) |
RGD |
PMID:12117362 |
RGD:1358631 |
NCBI chrNW_004955408:15,766,161...15,857,121
Ensembl chrNW_004955408:15,765,984...15,857,244
|
|
G |
Glud1 |
glutamate dehydrogenase 1 |
|
ISO |
protein:increased expression:thalamus |
RGD |
PMID:10975907 |
RGD:6484590 |
NCBI chrNW_004955510:5,987,811...6,021,001
|
|
G |
Grik1 |
glutamate ionotropic receptor kainate type subunit 1 |
|
ISO |
|
RGD |
PMID:9259378 |
RGD:1358334 |
NCBI chrNW_004955407:28,899,643...29,308,936
Ensembl chrNW_004955407:28,899,899...29,308,470
|
|
G |
Hcn1 |
hyperpolarization activated cyclic nucleotide gated potassium channel 1 |
|
ISO |
|
RGD |
PMID:15182313 |
RGD:9686420 |
NCBI chrNW_004955446:17,146,915...17,457,843
Ensembl chrNW_004955446:17,151,311...17,457,888
|
|
G |
Htr7 |
5-hydroxytryptamine receptor 7 |
|
ISO |
|
RGD |
PMID:15050708 |
RGD:6480686 |
NCBI chrNW_004955425:2,321,420...2,420,420
Ensembl chrNW_004955425:2,321,420...2,420,530
|
|
G |
Jrk |
Jrk helix-turn-helix protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11463517 |
|
NCBI chrNW_004955454:1,415,811...1,423,705
Ensembl chrNW_004955454:1,415,811...1,423,705
|
|
G |
Kcnk9 |
potassium two pore domain channel subfamily K member 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15781965 |
|
NCBI chrNW_004955461:13,406,969...13,476,720
Ensembl chrNW_004955461:13,412,436...13,476,803
|
|
G |
Lgi4 |
leucine rich repeat LGI family member 4 |
|
ISO |
DNA:point mutation: :c.1914G>A (human) |
RGD |
PMID:14505228 |
RGD:1302591 |
NCBI chrNW_004955468:4,441,808...4,456,884
Ensembl chrNW_004955468:4,445,155...4,453,610
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
|
RGD |
PMID:20303372 |
RGD:8547934 |
NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
|
|
G |
Npy |
neuropeptide Y |
treatment |
ISO |
|
RGD |
PMID:17331209 PMID:24039965 |
RGD:10448963 RGD:10448964 |
NCBI chrNW_004955410:26,348,388...26,355,232
Ensembl chrNW_004955410:26,348,504...26,355,297
|
|
G |
Npy1r |
neuropeptide Y receptor Y1 |
treatment |
ISO |
|
RGD |
PMID:17331209 |
RGD:10448963 |
NCBI chrNW_004955403:41,681,834...41,693,094
Ensembl chrNW_004955403:41,681,728...41,694,020
|
|
G |
Npy2r |
neuropeptide Y receptor Y2 |
treatment |
ISO |
|
RGD |
PMID:17331209 |
RGD:10448963 |
NCBI chrNW_004955471:11,796,278...11,804,114
Ensembl chrNW_004955471:11,796,278...11,804,114
|
|
G |
Npy5r |
neuropeptide Y receptor Y5 |
treatment |
ISO |
|
RGD |
PMID:17331209 |
RGD:10448963 |
NCBI chrNW_004955403:41,667,632...41,675,619
Ensembl chrNW_004955403:41,667,632...41,675,619
|
|
G |
Scn1b |
sodium voltage-gated channel beta subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Childhood absence epilepsy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004955468:4,375,517...4,383,383
Ensembl chrNW_004955468:4,375,157...4,383,502
|
|
G |
Slc2a1 |
solute carrier family 2 member 1 |
onset |
ISO |
DNA:deletion, missense mutations, SNP:multiple |
RGD |
PMID:26537434 |
RGD:11058811 |
NCBI chrNW_004955537:2,408,042...2,438,788
Ensembl chrNW_004955537:2,408,042...2,439,511
|
|
G |
Ywhaz |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta |
|
ISO |
protein:increased expression:parietal lobe |
RGD |
PMID:21310218 |
RGD:9587483 |
NCBI chrNW_004955417:16,047,263...16,070,506
Ensembl chrNW_004955417:16,047,263...16,072,854
|
|
|
G |
Atp10a |
ATPase phospholipid transporting 10A (putative) |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, childhood absence 1 |
ClinVar |
PMID:11198279 PMID:28492532 |
|
NCBI chrNW_004955533:3,413,607...3,533,834
Ensembl chrNW_004955533:3,413,607...3,533,834
|
|
G |
Gabra5 |
gamma-aminobutyric acid type A receptor alpha5 subunit |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, childhood absence 1 |
ClinVar |
PMID:11198279 PMID:28492532 |
|
NCBI chrNW_004955533:2,563,499...2,631,086
Ensembl chrNW_004955533:2,563,319...2,631,289
|
|
G |
Gabrb3 |
gamma-aminobutyric acid type A receptor beta3 subunit |
|
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:9536098 PMID:11198279 PMID:11742254 PMID:12189488 PMID:17576681 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 chrNW_004955533:2,879,437...2,938,952
Ensembl chrNW_004955533:2,573,599...2,938,952
|
|
G |
Rorb |
RAR related orphan receptor B |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, childhood absence 1 |
ClinVar |
PMID:25950944 |
|
NCBI chrNW_004955512:4,362,287...4,541,432
Ensembl chrNW_004955512:4,362,287...4,541,445
|
|
|
G |
Gabrg2 |
gamma-aminobutyric acid type A receptor gamma2 subunit |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, childhood absence 2 ClinVar Annotator: match by term: GABRG2-Related Disorder |
ClinVar |
PMID:9536098 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:17576681 PMID:18094250 PMID:18414213 PMID:18566737 PMID:20485450 PMID:20551311 PMID:21425109 PMID:21714819 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:28166811 PMID:28460589 PMID:28492532 PMID:29100083 PMID:29358611 PMID:29655203 PMID:29778030 PMID:30660939 |
|
NCBI chrNW_004955408:15,766,161...15,857,121
Ensembl chrNW_004955408:15,765,984...15,857,244
|
|
|
G |
Bche |
butyrylcholinesterase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15121994 |
|
NCBI chrNW_004955448:15,327,374...15,396,827
Ensembl chrNW_004955448:15,329,273...15,396,970
|
|
G |
Bdnf |
brain derived neurotrophic factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16023256 |
|
NCBI chrNW_004955476:6,773,244...6,822,201
Ensembl chrNW_004955476:6,772,088...6,822,588
|
|
G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16023256 |
|
NCBI chrNW_004955428:17,840,554...17,894,779
|
|
G |
Hbegf |
heparin binding EGF like growth factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16023256 |
|
NCBI chrNW_004955418:259,860...321,340
Ensembl chrNW_004955418:309,096...321,387
|
|
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 chrNW_004955468:11,828,525...11,860,365
Ensembl chrNW_004955468:11,828,525...11,860,365
|
|
G |
Lgi1 |
leucine rich glioma inactivated 1 |
|
ISO |
|
RGD |
PMID:30813600 |
RGD:14995940 |
NCBI chrNW_004955507:268,032...304,949
Ensembl chrNW_004955507:267,892...305,026
|
|
G |
Lig1 |
DNA ligase 1 |
|
ISO |
|
RGD |
PMID:30813600 |
RGD:14995940 |
NCBI chrNW_004955609:118,442...160,009
Ensembl chrNW_004955609:126,278...160,063
|
|
G |
Mbd5 |
methyl-CpG binding domain protein 5 |
|
ISO |
ClinVar Annotator: match by term: Tonic-clonic convulsions |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004955440:14,267,802...14,412,949
Ensembl chrNW_004955440:14,270,407...14,413,597
|
|
G |
Nes |
nestin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16137769 |
|
NCBI chrNW_004955545:2,748,132...2,756,595
Ensembl chrNW_004955545:2,748,078...2,756,301
|
|
G |
Ngf |
nerve growth factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16023256 |
|
NCBI chrNW_004955435:18,581,889...18,633,330
Ensembl chrNW_004955435:18,581,808...18,601,059
|
|
G |
Ntf3 |
neurotrophin 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16023256 |
|
NCBI chrNW_004955413:3,207,669...3,273,371
Ensembl chrNW_004955413:3,207,123...3,273,491
|
|
G |
Pcdh19 |
protocadherin 19 |
|
ISO |
ClinVar Annotator: match by term: Tonic-clonic convulsions |
ClinVar |
|
|
NCBI chrNW_004955503:6,428,894...6,567,253
Ensembl chrNW_004955503:6,434,047...6,567,253
|
|
G |
Pomc |
proopiomelanocortin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:4371370 |
|
NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
|
|
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 chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
|
|
G |
Scn8a |
sodium voltage-gated channel alpha subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Tonic-clonic convulsions |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955547:2,086,215...2,201,300
Ensembl chrNW_004955547:2,086,178...2,195,971
|
|
G |
Slc25a24 |
solute carrier family 25 member 24 |
|
ISO |
ClinVar Annotator: match by term: Tonic-clonic convulsions |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955435:11,895,475...11,933,153
Ensembl chrNW_004955435:11,895,405...11,933,153
|
|
G |
Sptan1 |
spectrin alpha, non-erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Tonic-clonic convulsions |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004955570:1,016,510...1,076,499
Ensembl chrNW_004955570:1,016,510...1,076,499
|
|
|
G |
Samd12 |
sterile alpha motif domain containing 12 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004955417:24,137,340...24,541,572
Ensembl chrNW_004955417:24,145,264...24,541,599
|
|
|
G |
Adra2b |
adrenoceptor alpha 2B |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic 2 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004955470:3,711,075...3,714,450
Ensembl chrNW_004955470:3,711,031...3,714,241
|
|
G |
Stard7 |
StAR related lipid transfer domain containing 7 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004955470:3,771,410...3,790,667
Ensembl chrNW_004955470:3,770,817...3,790,667
|
|
|
G |
Marchf6 |
membrane associated ring-CH-type finger 6 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004955426:228,807...278,888
Ensembl chrNW_004955426:228,788...278,888
|
|
|
G |
Yeats2 |
YEATS domain containing 2 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004955420:23,590,636...23,666,689
Ensembl chrNW_004955420:23,589,071...23,666,680
|
|
|
G |
Cntn2 |
contactin 2 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004955406:40,831,897...40,862,445
Ensembl chrNW_004955406:40,831,850...40,858,569
|
|
|
G |
Tnrc6a |
trinucleotide repeat containing adaptor 6A |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004955493:3,057,035...3,243,668
Ensembl chrNW_004955493:3,090,088...3,243,731
|
|
|
G |
Rapgef2 |
Rap guanine nucleotide exchange factor 2 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004955471:12,670,837...12,838,910
Ensembl chrNW_004955471:12,670,764...12,815,430
|
|
|
G |
Clcn2 |
chloride voltage-gated channel 2 |
susceptibility |
ISO |
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 ClinVar Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 |
OMIM ClinVar |
PMID:12612585 PMID:15252188 PMID:15505175 PMID:16932951 PMID:17567819 PMID:19191339 PMID:19710712 PMID:21703448 PMID:23632988 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004955420:23,138,558...23,152,462
Ensembl chrNW_004955420:23,138,605...23,152,311
|
|
|
G |
Gabra1 |
gamma-aminobutyric acid type A receptor alpha1 subunit |
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 chrNW_004955408:15,608,984...15,662,309
Ensembl chrNW_004955408:15,608,984...15,662,597
|
|
|
G |
Chrna7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 7 |
ClinVar |
PMID:25326635 PMID:25741868 |
|
NCBI chrNW_004955416:30,687,518...30,798,700
Ensembl chrNW_004955416:30,687,478...30,798,700
|
|
|
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 PMID:31875159 |
|
NCBI chrNW_004955411:5,624,510...5,676,165
Ensembl chrNW_004955411:5,624,053...5,677,534
|
|
|
G |
Brd2 |
bromodomain containing 2 |
|
ISO |
DNA:SNPs:promoter (human) |
RGD |
PMID:12830434 |
RGD:1358444 |
NCBI chrNW_004955437:1,584,890...1,592,486
Ensembl chrNW_004955437:1,584,479...1,592,826
|
|
G |
Cacna1g |
calcium voltage-gated channel subunit alpha1 G |
|
ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
|
|
NCBI chrNW_004955451:11,136,885...11,194,321
Ensembl chrNW_004955451:11,137,214...11,194,036
|
|
G |
Cacnb4 |
calcium voltage-gated channel auxiliary subunit beta 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
CTD ClinVar |
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 |
|
NCBI chrNW_004955440:17,364,996...17,497,446
|
|
G |
Chrna1 |
cholinergic receptor nicotinic alpha 1 subunit |
|
ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955449:661,310...683,873
Ensembl chrNW_004955449:661,304...683,873
|
|
G |
Efhc1 |
EF-hand domain containing 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1 ClinVar Annotator: match by term: Myoclonic epilepsy, juvenile 1 |
OMIM ClinVar |
PMID:8737649 PMID:12439895 PMID:15258581 PMID:16839746 PMID:17054699 PMID:17159113 PMID:17634063 PMID:18414213 PMID:18505993 PMID:18823326 PMID:20981092 PMID:22226147 PMID:22690745 PMID:22727576 PMID:22926142 PMID:23527921 PMID:24033266 PMID:24965021 PMID:25108116 PMID:25326635 PMID:25489633 PMID:25625532 PMID:25741868 PMID:26467025 PMID:27467453 PMID:28166811 PMID:28370826 PMID:28492532 PMID:29750216 PMID:31875159 |
|
NCBI chrNW_004955411:5,624,510...5,676,165
Ensembl chrNW_004955411:5,624,053...5,677,534
|
|
G |
Gabra1 |
gamma-aminobutyric acid type A receptor alpha1 subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myoclonic epilepsy |
CTD ClinVar |
|
|
NCBI chrNW_004955408:15,608,984...15,662,309
Ensembl chrNW_004955408:15,608,984...15,662,597
|
|
G |
Jrk |
Jrk helix-turn-helix protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11463517 |
|
NCBI chrNW_004955454:1,415,811...1,423,705
Ensembl chrNW_004955454:1,415,811...1,423,705
|
|
|
G |
Cilk1 |
ciliogenesis associated kinase 1 |
susceptibility |
ISO |
|
OMIM |
|
|
NCBI chrNW_004955411:2,997,726...3,065,106
Ensembl chrNW_004955411:3,019,525...3,068,090
|
|
|
G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: APHASIA, ACQUIRED, WITH EPILEPSY ClinVar Annotator: match by term: Acquired epileptiform aphasia |
CTD ClinVar |
PMID:18414213 PMID:20890276 PMID:21559497 PMID:23408766 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25164438 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26220384 PMID:26283219 PMID:26467025 PMID:26601054 PMID:27171548 PMID:27288002 PMID:27640074 PMID:27839871 PMID:28492532 PMID:29124671 PMID:29358611 |
|
NCBI chrNW_004955442:8,171,114...8,565,187
Ensembl chrNW_004955442:8,174,232...8,562,059
|
|
G |
Sptan1 |
spectrin alpha, non-erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Acquired epileptiform aphasia |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955570:1,016,510...1,076,499
Ensembl chrNW_004955570:1,016,510...1,076,499
|
|
|
G |
Gabrg2 |
gamma-aminobutyric acid type A receptor gamma2 subunit |
|
ISO |
ClinVar Annotator: match by term: Lennox-Gastaut syndrome |
ClinVar |
PMID:24407264 PMID:25741868 PMID:27066572 PMID:28492532 |
|
NCBI chrNW_004955408:15,766,161...15,857,121
Ensembl chrNW_004955408:15,765,984...15,857,244
|
|
G |
Gatm |
glycine amidinotransferase |
|
ISO |
ClinVar Annotator: match by term: Lennox-Gastaut syndrome |
ClinVar |
|
|
NCBI chrNW_004955409:8,068,524...8,084,603
Ensembl chrNW_004955409:8,068,476...8,084,603
|
|
G |
Kcnq3 |
potassium voltage-gated channel subfamily Q member 3 |
|
ISO |
ClinVar Annotator: match by term: Lennox-Gastaut syndrome |
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 chrNW_004955461:6,793,877...7,119,859
Ensembl chrNW_004955461:6,797,018...7,119,569
|
|
G |
Mapk10 |
mitogen-activated protein kinase 10 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type |
ClinVar |
PMID:16249883 |
|
NCBI chrNW_004955474:3,451,656...3,772,405
Ensembl chrNW_004955474:3,624,679...3,772,458
|
|
G |
Polg |
DNA polymerase gamma, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Lennox-Gastaut syndrome |
ClinVar |
PMID:15181170 PMID:15351195 PMID:16401742 PMID:19578034 PMID:19752458 PMID:21880868 PMID:22647225 PMID:23426270 PMID:23811324 PMID:24122062 PMID:24259288 PMID:24331360 PMID:24508722 PMID:25193669 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29029963 PMID:30255931 PMID:30373890 PMID:31571979 PMID:31658717 PMID:31669236 PMID:32234506 |
|
NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651
|
|
G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type |
ClinVar |
PMID:17347258 PMID:18804930 PMID:19589774 PMID:25348405 PMID:26633542 PMID:28492532 |
|
NCBI chrNW_004955449:8,072,910...8,220,763
Ensembl chrNW_004955449:8,160,986...8,221,951
|
|
G |
Zeb2 |
zinc finger E-box binding homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Lennox-Gastaut syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955440:10,755,658...10,881,044
Ensembl chrNW_004955440:10,756,014...10,795,491
|
|
|
G |
Grin2a |
glutamate ionotropic receptor NMDA type subunit 2A |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant |
ClinVar |
PMID:18414213 PMID:20890276 PMID:21559497 PMID:23408766 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25164438 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26220384 PMID:26283219 PMID:26467025 PMID:26601054 PMID:27171548 PMID:27288002 PMID:27640074 PMID:27839871 PMID:28492532 PMID:29124671 PMID:29358611 |
|
NCBI chrNW_004955442:8,171,114...8,565,187
Ensembl chrNW_004955442:8,174,232...8,562,059
|
|
G |
Sptan1 |
spectrin alpha, non-erythrocytic 1 |
|
ISO |
ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955570:1,016,510...1,076,499
Ensembl chrNW_004955570:1,016,510...1,076,499
|
|
|
G |
Srpx2 |
sushi repeat containing protein X-linked 2 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004955503:6,795,793...6,817,779
Ensembl chrNW_004955503:6,795,734...6,821,119
|
|
|
G |
Tbc1d24 |
TBC1 domain family member 24 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004955442:14,816,213...14,823,132
|
|