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: absence epilepsy
Accession: DOID:0070309
browse the term
Definition: An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram. (DO)
Synonyms: exact_synonym: Absence Seizure Disorder; Absence Seizure Disorders; absence epilepsies; absence seizure; absence seizures
For additional species annotation, visit the
Alliance of Genome Resources .
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DIP2B
disco interacting protein 2 homolog B
ISO
ClinVar Annotator: match by term: Absence seizure
ClinVar
PMID:25741868
NCBI chr27:4,006,127...4,227,529
Ensembl chr27:4,009,971...4,227,403
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EFHC1
EF-hand domain containing 1
ISO
ClinVar Annotator: match by term: Epilepsy, Absence
ClinVar
PMID:12439895 PMID:15258581 PMID:17159113 PMID:17634063 PMID:18414213 PMID:18823326 PMID:22226147 PMID:22690745 PMID:22926142 PMID:23527921 PMID:24965021 PMID:25489633 PMID:25625532 PMID:25741868 PMID:26467025 PMID:27467453 PMID:28370826 PMID:28492532 More...
NCBI chr12:20,068,287...20,131,621
Ensembl chr12:20,067,881...20,131,619
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SCN1A
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: Absence seizure
ClinVar
PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:24679980 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 PMID:31765958 More...
NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496
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SCN9A
sodium voltage-gated channel alpha subunit 9
ISO
ClinVar Annotator: match by term: Absence seizure
ClinVar
PMID:25741868
NCBI chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255
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ASAH1
N-acylsphingosine amidohydrolase 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr16:41,297,215...41,335,521
Ensembl chr16:41,297,809...41,323,078
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CHD2
chromodomain helicase DNA binding protein 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr 3:47,101,789...47,221,473
Ensembl chr 3:47,105,046...47,221,385
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CNTNAP2
contactin associated protein 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr16:2,239,953...4,208,718
Ensembl chr16:2,243,918...4,208,416
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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 More...
NCBI chr29:16,914,623...17,243,875
Ensembl chr29:16,914,985...17,244,350
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CSTB
cystatin B
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 PMID:16155205 PMID:17920138 PMID:18028412 PMID:18925453 PMID:20078424 PMID:21757863 PMID:22936898 PMID:25741868 PMID:26843564 PMID:28492532 PMID:29358611 More...
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DEPDC5
DEP domain containing 5, GATOR1 subcomplex subunit
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:24591017 PMID:25741868 PMID:26505888 PMID:28492532 PMID:29358611
NCBI chr26:24,629,369...24,754,728
Ensembl chr26:24,630,295...24,754,256
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EPM2A
EPM2A glucan phosphatase, laforin
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 1:36,835,775...36,977,653
Ensembl chr 1:36,870,594...36,931,847
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GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:23708187 PMID:25726841 PMID:25730860 PMID:27864268 PMID:28492532 PMID:29100083 PMID:29358611 More...
NCBI chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548
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GRIN1
glutamate ionotropic receptor NMDA type subunit 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 9:48,492,967...48,513,981
Ensembl chr 9:48,493,287...48,509,050
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GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:7574460 PMID:16199547 PMID:18414213 PMID:23933818 PMID:23933819 PMID:23933820 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26467025 PMID:26601054 PMID:27288002 PMID:28102150 PMID:28242877 PMID:28492532 PMID:29358611 PMID:30544257 More...
NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960
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IER3IP1
immediate early response 3 interacting protein 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 7:44,309,459...44,326,253
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KCNQ2
potassium voltage-gated channel subfamily Q member 2
ISO
ClinVar Annotator: match by term: Benign Rolandic epilepsy
ClinVar
PMID:18625963
NCBI chr24:47,060,527...47,089,077
Ensembl chr24:47,060,245...47,089,711
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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 chr13:28,765,472...29,062,371
Ensembl chr13:28,773,738...29,062,370
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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 chr 9:49,532,073...49,581,332
Ensembl chr 9:49,532,922...49,593,633
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MAF
MAF bZIP transcription factor
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:28492532 PMID:29358611
NCBI chr 5:71,965,291...71,982,903
Ensembl chr 5:71,965,500...71,981,735
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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 More...
NCBI chr X:74,179,609...74,319,138
Ensembl chr X:74,184,772...74,317,391
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PLCB1
phospholipase C beta 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr24:13,337,285...13,996,218
Ensembl chr24:13,322,296...13,995,539
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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 chr27:11,327,086...11,437,799
Ensembl chr27:11,426,647...11,437,303
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PRICKLE2
prickle planar cell polarity protein 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:28492532 PMID:29358611
NCBI chr20:26,810,167...27,131,864
Ensembl chr20:26,809,958...27,220,057
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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 chr 6:34,218,276...36,255,529
Ensembl chr 6:34,220,648...36,255,384
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RBFOX3
RNA binding fox-1 homolog 3
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 9:2,362,354...2,374,492
Ensembl chr 9:2,362,231...2,372,739
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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 More...
NCBI chr18:16,275,822...16,773,875
Ensembl chr18:16,275,837...16,773,875
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SCARB2
scavenger receptor class B member 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr32:788,117...865,496
Ensembl chr32:790,379...865,502
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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:24679980 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 PMID:31765958 More...
NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496
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SCN1B
sodium voltage-gated channel beta subunit 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr 1:117,504,428...117,510,666
Ensembl chr 1:117,503,828...117,511,727
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SCN2A
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr36:10,472,496...10,605,055
Ensembl chr36:10,472,361...10,602,685
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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 More...
NCBI chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255
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SLC2A1
solute carrier family 2 member 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr15:463,307...493,145
Ensembl chr15:463,237...493,140
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SLC6A1
solute carrier family 6 member 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:28492532 PMID:29358611
NCBI chr20:7,341,071...7,383,197
Ensembl chr20:7,341,072...7,383,287
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SNIP1
Smad nuclear interacting protein 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:28492532 PMID:29358611
NCBI chr15:4,924,035...4,934,565
Ensembl chr15:4,924,178...4,933,724
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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 chr 9:54,953,751...55,015,475
Ensembl chr 9:54,953,747...55,015,376
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STRADA
STE20 related adaptor alpha
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:28492532 PMID:29358611
NCBI chr 9:11,684,905...11,712,515
Ensembl chr 9:11,684,663...11,712,432
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SZT2
SZT2 subunit of KICSTOR complex
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:28492532 PMID:29358611
NCBI chr15:16,729,068...16,780,549
Ensembl chr15:16,728,758...16,780,325
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TBC1D24
TBC1 domain family member 24
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:24033266 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr 6:38,531,547...38,557,472
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WWOX
WW domain containing oxidoreductase
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611
NCBI chr 5:72,298,254...73,243,667
Ensembl chr 5:72,299,157...73,261,406
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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: CACNA1H-related disorder | ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Epilepsy, childhood absence 6 | ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 6
OMIM ClinVar
PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 PMID:15888660 PMID:17696120 PMID:25741868 PMID:26467025 PMID:26539891 PMID:26587300 PMID:28492532 PMID:30860130 PMID:32227660 More...
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
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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
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GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1
ISO
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4
ClinVar
PMID:16718694
NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581
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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
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GABRB3
gamma-aminobutyric acid type A receptor subunit beta3
susceptibility
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 5
OMIM ClinVar
PMID:18514161 PMID:19935738 PMID:20550555 PMID:24088041 PMID:25726841 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26845707 PMID:26950270 PMID:28492532 More...
NCBI chr 3:33,878,948...34,101,987
Ensembl chr 3:33,878,904...34,097,764
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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
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GLUD1
glutamate dehydrogenase 1
ISO
protein:increased expression:thalamus
RGD
PMID:10975907
RGD:6484590
NCBI chr 4:34,629,046...34,662,711
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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
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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
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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
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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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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ATP10A
ATPase phospholipid transporting 10A (putative)
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1
ClinVar
PMID:11198279 PMID:28492532
NCBI chr 3:34,841,218...35,028,718
Ensembl chr 3:34,841,073...35,028,040
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GABRA5
gamma-aminobutyric acid type A receptor subunit alpha5
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1
ClinVar
PMID:11198279 PMID:28492532
NCBI chr 3:33,663,414...33,746,120
Ensembl chr 3:33,664,169...33,744,328
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GABRB3
gamma-aminobutyric acid type A receptor subunit beta3
ISO
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:25726841 PMID:25741868 PMID:25849321 PMID:26068938 PMID:26467025 PMID:26845707 PMID:26950270 PMID:27476654 PMID:27622563 PMID:28053010 PMID:28281572 PMID:28492532 PMID:28607477 PMID:30728247 PMID:34782754 More...
NCBI chr 3:33,878,948...34,101,987
Ensembl chr 3:33,878,904...34,097,764
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RORB
RAR related orphan receptor B
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1
ClinVar
PMID:25950944
NCBI chr 1:83,470,569...83,666,200
Ensembl chr 1:83,476,816...83,666,061
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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:9536098 PMID:11326274 PMID:11326275 PMID:11748509 PMID:12097483 PMID:12117362 PMID:12477709 PMID:15342642 PMID:15470132 PMID:15866052 PMID:16199547 PMID:16510738 PMID:16924025 PMID:17148443 PMID:17576681 PMID:18094250 PMID:18414213 PMID:18566737 PMID:20485450 PMID:20551311 PMID:22190369 PMID:22539854 PMID:22750526 PMID:23708187 PMID:23720301 PMID:23935098 PMID:24407264 PMID:24480790 PMID:24811917 PMID:24874541 PMID:25640679 PMID:25726841 PMID:25730860 PMID:25731747 PMID:25741868 PMID:26467025 PMID:26633542 PMID:27066572 PMID:27340224 PMID:27367160 PMID:27730413 PMID:27864268 PMID:27899622 PMID:28460589 PMID:28492532 PMID:29100083 PMID:29358611 PMID:29655203 PMID:29778030 PMID:30557390 PMID:30660939 PMID:31175295 PMID:31216405 PMID:31471553 PMID:33391346 More...
NCBI chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548
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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
CUX2
cut like homeobox 2
ISO
ClinVar Annotator: match by term: Generalized tonic-clonic seizures
ClinVar
NCBI chr26:8,711,816...8,997,263
Ensembl chr26:8,730,435...8,993,205
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
GNB1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Generalized tonic-clonic seizures
ClinVar
PMID:25741868 PMID:27108799 PMID:32134617
NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295
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: Generalized tonic-clonic seizures
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: Generalized tonic-clonic seizures
ClinVar
PMID:25741868
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: Generalized tonic-clonic seizures
ClinVar
PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:24679980 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 PMID:31765958 More...
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: Generalized tonic-clonic seizures
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: Generalized tonic-clonic seizures
ClinVar
PMID:25741868
NCBI chr 6:43,424,079...43,476,861
G
SNAP25
synaptosome associated protein 25
ISO
ClinVar Annotator: match by term: Epilepsy with generalized tonic-clonic seizures
ClinVar
PMID:25741868 PMID:33299146
NCBI chr24:12,003,005...12,081,385
Ensembl chr24:12,004,117...12,081,329
G
SPTAN1
spectrin alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Generalized tonic-clonic seizures
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:54,953,751...55,015,475
Ensembl chr 9:54,953,747...55,015,376
G
SAMD12
sterile alpha motif domain containing 12
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1
OMIM ClinVar
NCBI chr13:17,525,855...17,897,153
Ensembl chr13:17,528,421...17,897,009
G
ADRA2B
adrenoceptor alpha 2B
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2
ClinVar
PMID:25741868
NCBI chr17:34,615,121...34,618,480
Ensembl chr17:34,615,096...34,656,791
G
STARD7
StAR related lipid transfer domain containing 7
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2
OMIM ClinVar
NCBI chr17:34,534,036...34,562,733
Ensembl chr17:34,534,529...34,554,994
G
MARCHF6
membrane associated ring-CH-type finger 6
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3
OMIM ClinVar
NCBI chr34:3,880,988...3,947,127
Ensembl chr34:3,884,487...3,943,035
G
YEATS2
YEATS domain containing 2
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 4
OMIM ClinVar
PMID:25741868
NCBI chr34:16,654,672...16,777,493
Ensembl chr34:16,654,493...16,777,506
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CNTN2
contactin 2
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
OMIM ClinVar
PMID:9536098 PMID:11178983 PMID:16199547 PMID:17576681 PMID:23518707 PMID:25741868 PMID:28492532 More...
NCBI chr38:1,570,598...1,600,524
Ensembl chr38:1,576,898...1,596,621
G
TNRC6A
trinucleotide repeat containing adaptor 6A
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:21,247,492...21,454,424
Ensembl chr 6:21,248,948...21,420,719
G
RAPGEF2
Rap guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7
OMIM ClinVar
PMID:25741868
NCBI chr15:56,133,094...56,353,609
Ensembl chr15:56,174,578...56,352,569
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, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 11
OMIM ClinVar
PMID:12612585 PMID:15252188 PMID:15505175 PMID:16932951 PMID:17567819 PMID:19191339 PMID:19710712 PMID:21703448 PMID:23632988 PMID:25741868 PMID:28492532 More...
NCBI chr34:17,224,136...17,238,755
Ensembl chr34:17,223,215...17,239,621
G
GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1
susceptibility
ISO
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13
OMIM ClinVar
PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 PMID:20551311 PMID:21714819 PMID:24623842 PMID:25741868 PMID:26467025 PMID:28251550 PMID:28492532 More...
NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581
G
CHRNA7
cholinergic receptor nicotinic alpha 7 subunit
ISO
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 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
EFHC1
EF-hand domain containing 1
ISO
ClinVar Annotator: match by term: EIG7
ClinVar
PMID:25741868 PMID:28166811 PMID:28492532
NCBI chr12:20,068,287...20,131,621
Ensembl chr12:20,067,881...20,131,619
G
SCN3A
sodium voltage-gated channel alpha subunit 3
ISO
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7
ClinVar
PMID:25741868
NCBI chr36:10,300,091...10,405,361
Ensembl chr36:10,302,191...10,377,923
G
EFHC1
EF-hand domain containing 1
susceptibility
ISO
ClinVar Annotator: match by term: Epilepsy, juvenile absence, susceptibility to, 1
OMIM ClinVar
PMID:12439895 PMID:15258581 PMID:17159113 PMID:17634063 PMID:18414213 PMID:18823326 PMID:22226147 PMID:22690745 PMID:22926142 PMID:23527921 PMID:24965021 PMID:25489633 PMID:25625532 PMID:25741868 PMID:26467025 PMID:27467453 PMID:28370826 PMID:28492532 More...
NCBI chr12:20,068,287...20,131,621
Ensembl chr12:20,067,881...20,131,619
G
BRD2
bromodomain containing 2
ISO
DNA:SNPs:promoter (human)
RGD
PMID:12830434
RGD:1358444
NCBI chr12:2,534,034...2,546,029
Ensembl chr12:2,534,034...2,546,029
G
CACNA1G
calcium voltage-gated channel subunit alpha1 G
ISO
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar
NCBI chr 9:26,481,148...26,544,511
Ensembl chr 9:26,481,652...26,544,845
G
CACNB4
calcium voltage-gated channel auxiliary subunit beta 4
ISO
ClinVar Annotator: match by term: EJM1 | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532
NCBI chr19:52,987,170...53,116,410
Ensembl chr19:52,993,618...53,116,140 Ensembl chr19:52,993,618...53,116,140
G
CHRNA1
cholinergic receptor nicotinic alpha 1 subunit
ISO
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar
PMID:28492532
NCBI chr36:18,726,243...18,742,505
Ensembl chr36:18,726,243...18,742,505
G
EFHC1
EF-hand domain containing 1
susceptibility
ISO
ClinVar Annotator: match by term: EJM1 | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy | ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1
OMIM ClinVar
PMID:8737649 PMID:9536098 PMID:12439895 PMID:15258581 PMID:16839746 PMID:17054699 PMID:17159113 PMID:17576681 PMID:17634063 PMID:18414213 PMID:18505993 PMID:18823326 PMID:20981092 PMID:22226147 PMID:22690745 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 More...
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: Juvenile myoclonic epilepsy
ClinVar
NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581
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
CILK1
ciliogenesis associated kinase 1
susceptibility
ISO
OMIM
NCBI chr12:20,453,322...20,511,463
Ensembl chr12:20,450,834...20,511,673
G
ABAT
4-aminobutyrate aminotransferase
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:28492532
NCBI chr 6:33,385,779...33,471,348
Ensembl chr 6:33,376,996...33,471,326
G
CARHSP1
calcium regulated heat stable protein 1
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:28492532
NCBI chr 6:33,338,577...33,345,125
Ensembl chr 6:33,338,571...33,343,750
G
GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:7574460 PMID:9526012 PMID:9536098 PMID:10996561 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 PMID:18718967 PMID:19286491 PMID:19292755 PMID:20384727 PMID:20890276 PMID:21376300 PMID:21499247 PMID:21507155 PMID:21559497 PMID:21681106 PMID:22833210 PMID:23033978 PMID:23294109 PMID:23408766 PMID:23933818 PMID:23933819 PMID:23933820 PMID:23940648 PMID:24125812 PMID:24372385 PMID:24455489 PMID:24463507 PMID:24504326 PMID:24828792 PMID:24903190 PMID:25164438 PMID:25326635 PMID:25356970 PMID:25596506 PMID:25726841 PMID:25741868 PMID:25904555 PMID:26220384 PMID:26283219 PMID:26350204 PMID:26467025 PMID:26601054 PMID:26648591 PMID:26781712 PMID:26806548 PMID:27288002 PMID:27640074 PMID:27781031 PMID:27839871 PMID:28102150 PMID:28109652 PMID:28182669 PMID:28242877 PMID:28492532 PMID:28936771 PMID:29124671 PMID:29317596 PMID:29358611 PMID:29961510 PMID:30525188 PMID:30544257 PMID:31429998 PMID:32238909 More...
NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960
G
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:25741868
NCBI chr27:32,470,889...32,883,606
Ensembl chr27:32,471,153...32,877,680
G
HAPSTR1
HUWE1 associated protein modifying stress responses
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:28492532
NCBI chr 6:33,124,932...33,151,221
Ensembl chr 6:33,126,988...33,151,466
G
ITSN2
intersectin 2
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:25741868
NCBI chr17:18,627,543...18,756,669
Ensembl chr17:18,627,935...18,756,114
G
PMM2
phosphomannomutase 2
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:28492532
NCBI chr 6:33,346,969...33,371,095
Ensembl chr 6:33,347,270...33,371,025
G
SPTAN1
spectrin alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:54,953,751...55,015,475
Ensembl chr 9:54,953,747...55,015,376
G
TMEM186
transmembrane protein 186
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:28492532
G
USP7
ubiquitin specific peptidase 7
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:28492532
NCBI chr 6:33,277,328...33,315,601
Ensembl chr 6:33,277,444...33,314,491
G
GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
ISO
ClinVar Annotator: match by term: Lennox-Gastaut syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:48,794,770...48,901,859
Ensembl chr 4:48,796,852...48,901,548
G
GATM
glycine amidinotransferase
ISO
ClinVar Annotator: match by term: Lennox-Gastaut syndrome
ClinVar
NCBI chr30:11,724,446...11,742,214
Ensembl chr30:11,723,519...11,742,214
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:26582918 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 PMID:34356170 More...
NCBI chr13:28,765,472...29,062,371
Ensembl chr13:28,773,738...29,062,370
G
MAPK10
mitogen-activated protein kinase 10
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type
ClinVar
PMID:16249883
NCBI chr32:9,584,437...9,889,118
Ensembl chr32:9,575,492...9,884,325
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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 More...
NCBI chr 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
G
SCN1A
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type
ClinVar
PMID:17347258 PMID:19589774 PMID:26633542 PMID:28492532
NCBI chr36:11,105,936...11,245,978
Ensembl chr36:11,108,050...11,183,496
G
ZEB2
zinc finger E-box binding homeobox 2
ISO
ClinVar Annotator: match by term: Lennox-Gastaut syndrome
ClinVar
PMID:28492532
NCBI chr19:46,419,812...46,541,888
Ensembl chr19:46,423,998...46,542,122
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ARL13A
ADP ribosylation factor like GTPase 13A
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:74,912,223...74,919,327
G
BTK
Bruton tyrosine kinase
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:75,270,952...75,302,663
Ensembl chr X:75,270,979...75,302,562
G
CENPI
centromere protein I
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:75,035,147...75,112,991
Ensembl chr X:75,035,141...75,211,971
G
CSTF2
cleavage stimulation factor subunit 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:74,758,399...74,782,470
Ensembl chr X:74,758,496...74,782,194
G
DRP2
dystrophin related protein 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:75,171,816...75,217,777
Ensembl chr X:75,171,507...75,212,782
G
GLA
galactosidase alpha
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:75,311,536...75,320,391
Ensembl chr X:75,311,536...75,320,249
G
HNRNPH2
heterogeneous nuclear ribonucleoprotein H2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:75,320,505...75,326,651
Ensembl chr X:75,324,481...75,325,830
G
LOC100687687
60S ribosomal protein L36a-like
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr 4:62,275,030...62,275,422
G
LOC102155800
60S ribosomal protein L36a-like
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr17:52,628,292...52,628,713
G
NOX1
NADPH oxidase 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:74,784,627...74,811,796
Ensembl chr X:74,785,168...74,811,698
G
PCDH19
protocadherin 19
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:74,179,609...74,319,138
Ensembl chr X:74,184,772...74,317,391
G
SRPX2
sushi repeat containing protein X-linked 2
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
OMIM ClinVar
PMID:16497722 PMID:18718938 PMID:23352160 PMID:23831613 PMID:23871722 PMID:23933820 PMID:24995671 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr X:74,513,473...74,536,446
Ensembl chr X:74,513,774...74,534,910
G
SYTL4
synaptotagmin like 4
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:74,537,937...74,617,580
Ensembl chr X:74,539,183...74,565,753
G
TAF7L
TATA-box binding protein associated factor 7 like
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:75,219,448...75,238,309
Ensembl chr X:75,220,248...75,239,041
G
TIMM8A
translocase of inner mitochondrial membrane 8A
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:75,267,437...75,270,288
Ensembl chr X:75,267,450...75,270,288
G
TMEM35A
transmembrane protein 35A
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:75,020,157...75,033,714
Ensembl chr X:75,020,238...75,032,525
G
TNMD
tenomodulin
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:74,459,111...74,475,010
Ensembl chr X:74,459,313...74,478,170
G
TRMT2B
tRNA methyltransferase 2 homolog B
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:74,921,406...75,001,373
G
TSPAN6
tetraspanin 6
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:74,499,684...74,510,079
Ensembl chr X:74,499,686...74,505,683
G
XKRX
XK related X-linked
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:74,854,947...74,872,918
Ensembl chr X:74,859,659...74,872,259
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:7574460 PMID:16199547 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:27288002 PMID:27640074 PMID:27839871 PMID:28102150 PMID:28242877 PMID:28492532 PMID:29124671 PMID:29358611 PMID:30544257 More...
NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960
G
SPTAN1
spectrin alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:54,953,751...55,015,475
Ensembl chr 9:54,953,747...55,015,376
G
TBC1D24
TBC1 domain family member 24
ISO
ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
OMIM ClinVar
PMID:10072049 PMID:23526554 PMID:24291220 PMID:27281533 PMID:28492532 PMID:30108545 PMID:31112829 PMID:31257402 More...
NCBI chr 6:38,531,547...38,557,472
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all