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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:absence epilepsy
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Accession:DOID:0070309 term browser 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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absence epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIP2B disco interacting protein 2 homolog B IAGP ClinVar Annotator: match by term: Absence seizure ClinVar PMID:25741868 NCBI chr12:50,504,985...50,748,657
Ensembl chr12:50,504,985...50,748,657
JBrowse link
G EFHC1 EF-hand domain containing 1 IAGP ClinVar Annotator: match by term: Epilepsy, Absence ClinVar PMID:12439895 PMID:15258581 PMID:17159113 PMID:17634063 PMID:18414213 More... NCBI chr 6:52,420,342...52,497,198
Ensembl chr 6:52,362,123...52,529,886
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Absence seizure ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Absence seizure ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 More... NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Absence seizures ClinVar PMID:25741868 NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Absence seizures ClinVar PMID:25741868 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
benign epilepsy with centrotemporal spikes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARFGEF1-DT ARFGEF1 divergent transcript IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 8:67,343,834...67,491,868 JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
JBrowse link
G CHD2 chromodomain helicase DNA binding protein 2 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr15:92,900,324...93,027,996
Ensembl chr15:92,900,189...93,027,996
JBrowse link
G CNTNAP2 contactin associated protein 2 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998
JBrowse link
G CPA6 carboxypeptidase A6 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 8:67,422,038...67,746,360
Ensembl chr 8:67,422,038...67,746,378
JBrowse link
G CSTB cystatin B IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 More... NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330
JBrowse link
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24591017 PMID:25741868 PMID:26505888 PMID:28492532 PMID:29358611 NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033
JBrowse link
G EPM2A EPM2A glucan phosphatase, laforin IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 6:145,383,353...145,736,023
Ensembl chr 6:145,382,535...145,736,023
JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:23708187 PMID:25726841 PMID:25730860 PMID:27864268 PMID:28492532 More... NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,139,154...137,168,756
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rolandic epilepsy
CTD
ClinVar
PMID:7574460 PMID:16199547 PMID:18414213 PMID:23933818 PMID:23933819 More... NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,182,928
JBrowse link
G IER3IP1 immediate early response 3 interacting protein 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr18:47,152,834...47,176,364
Ensembl chr18:47,152,834...47,176,364
JBrowse link
G KCNQ2 potassium voltage-gated channel subfamily Q member 2 IAGP ClinVar Annotator: match by term: Benign Rolandic epilepsy ClinVar PMID:18625963 NCBI chr20:63,400,208...63,472,655
Ensembl chr20:63,400,208...63,472,677
JBrowse link
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18625963 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 8:132,120,861...132,481,095
Ensembl chr 8:132,120,859...132,481,095
JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508
JBrowse link
G MAF MAF bZIP transcription factor IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737
JBrowse link
G PCDH19 protocadherin 19 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213 PMID:19214208 PMID:19752159 PMID:20713952 PMID:25741868 More... NCBI chr  X:100,291,644...100,410,273
Ensembl chr  X:100,291,644...100,410,273
JBrowse link
G PLCB1 phospholipase C beta 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr20:8,132,266...8,884,900
Ensembl chr20:8,077,251...8,968,360
JBrowse link
G PRICKLE1 prickle planar cell polarity protein 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21901791 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr12:42,456,757...42,589,746
Ensembl chr12:42,456,757...42,590,355
JBrowse link
G PRICKLE2 prickle planar cell polarity protein 2 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 3:64,092,236...64,268,173
Ensembl chr 3:64,092,236...64,445,476
JBrowse link
G RBFOX1 RNA binding fox-1 homolog 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:26467025 PMID:28346479 PMID:28492532 PMID:29358611 NCBI chr16:5,239,738...7,713,340
Ensembl chr16:5,239,802...7,713,340
JBrowse link
G RBFOX3 RNA binding fox-1 homolog 3 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr17:79,089,345...79,665,571
Ensembl chr17:79,089,345...79,611,051
JBrowse link
G RELN reelin IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:14515139 PMID:14593429 PMID:20697953 PMID:24828792 PMID:25620207 More... NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658
JBrowse link
G SCARB2 scavenger receptor class B member 2 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 4:76,158,737...76,234,532
Ensembl chr 4:76,158,737...76,234,536
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:11254445 PMID:12610651 PMID:18021921 PMID:19200853 PMID:19522081 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 More... NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213 PMID:20478850 PMID:24776970 PMID:24848745 PMID:25250524 More... NCBI chr 2:166,081,531...166,301,784
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213 PMID:20478850 PMID:24776970 PMID:24848745 PMID:25250524 More... NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G SIK1B salt inducible kinase 1B (putative) IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr21:6,111,131...6,123,778
Ensembl chr21:6,111,131...6,123,778
JBrowse link
G SLC26A5-AS1 SLC26A5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 7:103,445,207...103,514,007
Ensembl chr 7:103,445,207...103,514,007
JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
JBrowse link
G SLC6A1 solute carrier family 6 member 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247
JBrowse link
G SNIP1 Smad nuclear interacting protein 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 1:37,534,449...37,554,293
Ensembl chr 1:37,534,449...37,554,293
JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25224718 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662
JBrowse link
G STRADA STE20 related adaptor alpha IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986
JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247
JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24033266 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
JBrowse link
G WWOX WW domain containing oxidoreductase IAGP ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
JBrowse link
childhood absence epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO
EXP
DNA:mutation:cds:752T>A (p.M251K)(rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17196942 PMID:17196942 RGD:1598976 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H susceptibility IAGP
EXP
ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 6
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
ClinVar
CTD
OMIM
RGD
PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 PMID:15888660 More... RGD:1358447 NCBI chr16:1,153,106...1,221,768
Ensembl chr16:1,153,106...1,221,771
JBrowse link
G CACNA2D2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 3:50,362,613...50,504,244
Ensembl chr 3:50,362,613...50,504,244
JBrowse link
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 chr22:36,560,857...36,703,752
Ensembl chr22:36,560,857...36,703,752
JBrowse link
G CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 IAGP
IEA
MouseDO
RGD
PMID:11904235 RGD:728397 NCBI chr16:24,256,335...24,362,412
Ensembl chr16:24,256,335...24,362,412
JBrowse link
G EFHC1 EF-hand domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:52,420,342...52,497,198
Ensembl chr 6:52,362,123...52,529,886
JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 IAGP ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 ClinVar PMID:16718694 NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981
JBrowse link
G GABRA6 gamma-aminobutyric acid type A receptor subunit alpha6 IAGP ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:28492532 NCBI chr 5:161,685,721...161,702,592
Ensembl chr 5:161,547,063...161,702,593
JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 susceptibility IAGP
EXP
DNA:SNPs
ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 5
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:18514161 PMID:19935738 PMID:20550555 PMID:24088041 PMID:25726841 More... RGD:1601269 NCBI chr15:26,543,552...26,773,763
Ensembl chr15:26,543,546...26,939,539
JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP
IEA
DNA:snp:intron:IVS6+2T>G (human) MouseDO
RGD
PMID:12117362 RGD:1358631 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
JBrowse link
G GLUD1 glutamate dehydrogenase 1 ISO protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chr10:87,050,202...87,094,843
Ensembl chr10:87,050,202...87,094,843
JBrowse link
G GRIK1 glutamate ionotropic receptor kainate type subunit 1 IAGP
IEA
MouseDO
RGD
PMID:9259378 RGD:1358334 NCBI chr21:29,536,933...29,939,996
Ensembl chr21:29,536,933...29,940,033
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO RGD PMID:15182313 RGD:9686420 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498
JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO RGD PMID:15050708 RGD:6480686 NCBI chr10:90,740,823...90,858,039
Ensembl chr10:90,740,823...90,858,039
JBrowse link
G JRK Jrk helix-turn-helix protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 8:142,643,682...142,669,967
Ensembl chr 8:142,657,460...142,681,968
JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109
JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP
IEA
DNA:point mutation: :c.1914G>A (human) MouseDO
RGD
PMID:14505228 RGD:1302591 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:20303372 RGD:8547934 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NPY neuropeptide Y treatment IDA
IEA
ISO
MouseDO
RGD
PMID:17331209 PMID:24039965 RGD:10448963, RGD:10448964 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
JBrowse link
G NPY1R neuropeptide Y receptor Y1 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 4:163,323,962...163,344,689
Ensembl chr 4:163,323,962...163,344,832
JBrowse link
G NPY2R neuropeptide Y receptor Y2 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 4:155,173,723...155,217,076
Ensembl chr 4:155,208,636...155,217,078
JBrowse link
G NPY5R neuropeptide Y receptor Y5 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 4:163,343,892...163,352,403
Ensembl chr 4:163,343,892...163,351,934
JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449
JBrowse link
G SLC2A1 solute carrier family 2 member 1 onset IAGP
IEA
DNA:deletion, missense mutations, SNP:multiple MouseDO
RGD
PMID:26537434 RGD:11058811 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
JBrowse link
G YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta ISO protein:increased expression:parietal lobe RGD PMID:21310218 RGD:9587483 NCBI chr 8:100,916,523...100,953,382
Ensembl chr 8:100,916,523...100,953,388
JBrowse link
Childhood Absence Epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL355674.1 novel transcript IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr 9:74,371,531...74,383,530
Ensembl chr 9:74,371,335...74,384,578
JBrowse link
G ATP10A ATPase phospholipid transporting 10A (putative) IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279 PMID:28492532 NCBI chr15:25,672,237...25,865,088
Ensembl chr15:25,677,273...25,865,184
JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:11198279 PMID:28492532 NCBI chr15:26,866,719...26,949,208
Ensembl chr15:26,866,911...26,949,208
JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1
ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1
ClinVar PMID:2828157 PMID:9536098 PMID:11198279 PMID:11742254 PMID:12189488 More... NCBI chr15:26,543,552...26,773,763
Ensembl chr15:26,543,546...26,939,539
JBrowse link
G MIR6130 microRNA 6130 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr21:23,079,284...23,079,392
Ensembl chr21:23,079,284...23,079,392
JBrowse link
G RORB RAR related orphan receptor B IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr 9:74,497,335...74,693,177
Ensembl chr 9:74,497,335...74,693,177
JBrowse link
G RORB-AS1 RORB antisense RNA 1 IAGP ClinVar Annotator: match by term: Epilepsy, childhood absence 1 ClinVar PMID:25950944 NCBI chr 9:74,473,435...74,498,553
Ensembl chr 9:74,485,551...74,499,127
JBrowse link
Childhood Absence Epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP 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 More... NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
JBrowse link
childhood electroclinical syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISS MouseDO NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
JBrowse link
epilepsy with generalized tonic-clonic seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCHE butyrylcholinesterase EXP CTD Direct Evidence: marker/mechanism CTD PMID:15121994 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G BDNF brain derived neurotrophic factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G CUX2 cut like homeobox 2 IAGP ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar NCBI chr12:111,034,165...111,350,554
Ensembl chr12:111,034,165...111,350,554
JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16835697 NCBI chr22:42,126,499...42,130,810
Ensembl chr22:42,126,499...42,130,865
JBrowse link
G FGF2 fibroblast growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:27108799 PMID:32134617 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,891,117
JBrowse link
G HBEGF heparin binding EGF like growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 5:140,332,843...140,346,603
Ensembl chr 5:140,332,843...140,346,603
JBrowse link
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 chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160
JBrowse link
G LGI1 leucine rich glioma inactivated 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr10:93,757,936...93,798,159
Ensembl chr10:93,757,840...93,806,272
JBrowse link
G LIG1 DNA ligase 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr19:48,115,445...48,170,344
Ensembl chr19:48,115,445...48,170,603
JBrowse link
G MBD5 methyl-CpG binding domain protein 5 IAGP ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971
JBrowse link
G NES nestin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16137769 NCBI chr 1:156,668,763...156,677,407
Ensembl chr 1:156,668,763...156,677,407
JBrowse link
G NGF nerve growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NTF3 neurotrophin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr12:5,430,332...5,495,299
Ensembl chr12:5,432,108...5,521,536
JBrowse link
G OXT oxytocin/neurophysin I prepropeptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:4988877 PMID:6407273 NCBI chr20:3,071,620...3,072,517
Ensembl chr20:3,071,620...3,072,517
JBrowse link
G PCDH19 protocadherin 19 IAGP ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr  X:100,291,644...100,410,273
Ensembl chr  X:100,291,644...100,410,273
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: marker/mechanism CTD PMID:4371370 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 More... NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 More... NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP ClinVar Annotator: match by term: Epilepsy with generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:33299146 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258
JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662
JBrowse link
familial adult myoclonic epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SAMD12 sterile alpha motif domain containing 12 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1 OMIM
ClinVar
NCBI chr 8:118,131,825...118,621,963
Ensembl chr 8:118,189,455...118,622,112
JBrowse link
familial adult myoclonic epilepsy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRA2B adrenoceptor alpha 2B IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic 2 ClinVar PMID:25741868 NCBI chr 2:96,112,876...96,116,571
Ensembl chr 2:96,112,876...96,116,571
JBrowse link
G STARD7 StAR related lipid transfer domain containing 7 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic 2
OMIM
ClinVar
NCBI chr 2:96,184,859...96,208,827
Ensembl chr 2:96,184,859...96,208,827
JBrowse link
familial adult myoclonic epilepsy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARCHF6 membrane associated ring-CH-type finger 6 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3 OMIM
ClinVar
NCBI chr 5:10,353,695...10,440,388
Ensembl chr 5:10,353,695...10,440,388
JBrowse link
familial adult myoclonic epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G YEATS2 YEATS domain containing 2 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 4 OMIM
ClinVar
PMID:25741868 NCBI chr 3:183,697,797...183,812,624
Ensembl chr 3:183,697,797...183,812,624
JBrowse link
familial adult myoclonic epilepsy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNTN2 contactin 2 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar
OMIM
PMID:9536098 PMID:11178983 PMID:16199547 PMID:17576681 PMID:23518707 More... NCBI chr 1:205,042,949...205,078,289
Ensembl chr 1:205,042,937...205,078,289
JBrowse link
familial adult myoclonic epilepsy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TNRC6A trinucleotide repeat containing adaptor 6A IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr16:24,610,205...24,826,218
Ensembl chr16:24,610,209...24,827,632
JBrowse link
familial adult myoclonic epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAPGEF2 Rap guanine nucleotide exchange factor 2 IAGP ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7
ClinVar Annotator: match by term: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7
OMIM
ClinVar
PMID:25741868 NCBI chr 4:159,103,079...159,360,173
Ensembl chr 4:159,103,013...159,360,174
JBrowse link
idiopathic generalized epilepsy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN2 chloride voltage-gated channel 2 susceptibility IAGP ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
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
ClinVar
OMIM
PMID:12612585 PMID:15252188 PMID:15505175 PMID:16932951 PMID:17567819 More... NCBI chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650
JBrowse link
idiopathic generalized epilepsy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 susceptibility IAGP ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13
ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5
ClinVar
OMIM
PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 More... NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981
JBrowse link
idiopathic generalized epilepsy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit IAGP ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 7 ClinVar PMID:25326635 PMID:25741868 NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018
JBrowse link
G EFHC1 EF-hand domain containing 1 IAGP ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 7 ClinVar PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr 6:52,420,342...52,497,198
Ensembl chr 6:52,362,123...52,529,886
JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 7 ClinVar PMID:25741868 NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050
JBrowse link
juvenile absence epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EFHC1 EF-hand domain containing 1 susceptibility IAGP ClinVar Annotator: match by term: Epilepsy, juvenile absence, susceptibility to, 1 OMIM
ClinVar
PMID:12439895 PMID:15258581 PMID:17159113 PMID:17634063 PMID:18414213 More... NCBI chr 6:52,420,342...52,497,198
Ensembl chr 6:52,362,123...52,529,886
JBrowse link
juvenile myoclonic epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRD2 bromodomain containing 2 IAGP
IEA
DNA:SNPs:promoter (human)
OMIM:254770
MouseDO
RGD
PMID:12830434 RGD:1358444 NCBI chr 6:32,968,594...32,981,505
Ensembl chr 6:32,968,594...32,981,505
JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474
JBrowse link
G CACNB4 calcium voltage-gated channel auxiliary subunit beta 4 IAGP
EXP
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr 2:151,832,771...152,099,167
Ensembl chr 2:151,832,771...152,099,167
JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:28492532 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
JBrowse link
G EFHC1 EF-hand domain containing 1 susceptibility IAGP
EXP
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1
ClinVar Annotator: match by term: Janz syndrome
ClinVar Annotator: match by term: EJM1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myoclonic epilepsy, juvenile 1
ClinVar
CTD
OMIM
PMID:8737649 PMID:9536098 PMID:12439895 PMID:15258581 PMID:16839746 More... NCBI chr 6:52,420,342...52,497,198
Ensembl chr 6:52,362,123...52,529,886
JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 IAGP
EXP
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 5:161,847,191...161,899,971
Ensembl chr 5:161,847,063...161,899,981
JBrowse link
G JRK Jrk helix-turn-helix protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr 8:142,643,682...142,669,967
Ensembl chr 8:142,657,460...142,681,968
JBrowse link
juvenile myoclonic epilepsy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CILK1 ciliogenesis associated kinase 1 susceptibility IAGP OMIM NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824
JBrowse link
Landau-Kleffner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABAT 4-aminobutyrate aminotransferase IAGP ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
JBrowse link
G CARHSP1 calcium regulated heat stable protein 1 IAGP ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:8,852,942...8,869,006
Ensembl chr16:8,852,942...8,869,012
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IAGP
EXP
ClinVar Annotator: match by term: APHASIA, ACQUIRED, WITH EPILEPSY
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar Annotator: match by term: Acquired epileptiform aphasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7574460 PMID:9526012 PMID:9536098 PMID:10996561 PMID:16199547 More... NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,182,928
JBrowse link
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B IAGP ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:25741868 NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002
JBrowse link
G HAPSTR1 HUWE1 associated protein modifying stress responses IAGP ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:9,091,644...9,121,635
Ensembl chr16:9,091,644...9,121,635
JBrowse link
G ITSN2 intersectin 2 IAGP ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:25741868 NCBI chr 2:24,202,864...24,361,368
Ensembl chr 2:24,202,864...24,360,536
JBrowse link
G PMM2 phosphomannomutase 2 IAGP ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Acquired epileptiform aphasia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662
JBrowse link
G TMEM186 transmembrane protein 186 IAGP ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:8,795,180...8,797,639
Ensembl chr16:8,780,384...8,797,642
JBrowse link
G USP7 ubiquitin specific peptidase 7 IAGP ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328
JBrowse link
Lennox-Gastaut syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DGKD diacylglycerol kinase delta ISS OMIM:606369 MouseDO NCBI chr 2:233,354,494...233,472,098
Ensembl chr 2:233,354,494...233,472,104
JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
JBrowse link
G GATM glycine amidinotransferase IAGP ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar NCBI chr15:45,361,124...45,402,227
Ensembl chr15:45,361,124...45,402,327
JBrowse link
G KCNQ3 potassium voltage-gated channel subfamily Q member 3 IAGP ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:23020937 PMID:23934111 PMID:25740509 PMID:25741868 PMID:26350515 More... NCBI chr 8:132,120,861...132,481,095
Ensembl chr 8:132,120,859...132,481,095
JBrowse link
G MAPK10 mitogen-activated protein kinase 10 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type ClinVar PMID:16249883 NCBI chr 4:86,010,405...86,594,074
Ensembl chr 4:85,990,007...86,594,625
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:15181170 PMID:15351195 PMID:16401742 PMID:19578034 PMID:19752458 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type ClinVar PMID:17347258 PMID:19589774 PMID:26633542 PMID:28492532 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
JBrowse link
G SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 IAGP ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type ClinVar PMID:17347258 PMID:19589774 PMID:26633542 PMID:28492532 NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771
JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:28492532 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057
JBrowse link
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL13A ADP ribosylation factor like GTPase 13A IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:100,969,708...100,990,831
Ensembl chr  X:100,969,708...100,990,831
JBrowse link
G BTK Bruton tyrosine kinase IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G CENPI centromere protein I IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,098,204...101,181,859
Ensembl chr  X:101,098,188...101,166,126
JBrowse link
G CSTF2 cleavage stimulation factor subunit 2 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:100,820,391...100,841,520
Ensembl chr  X:100,820,359...100,841,520
JBrowse link
G DRP2 dystrophin related protein 2 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,219,786...101,264,502
Ensembl chr  X:101,219,769...101,264,502
JBrowse link
G GLA galactosidase alpha IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,408,222...101,414,133
Ensembl chr  X:101,408,222...101,414,133
JBrowse link
G LOC121627976 Sharpr-MPRA regulatory region 6756 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:100,647,192...100,647,486 JBrowse link
G NOX1 NADPH oxidase 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:100,843,324...100,874,359
Ensembl chr  X:100,843,324...100,874,359
JBrowse link
G PCDH19 protocadherin 19 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:100,291,644...100,410,273
Ensembl chr  X:100,291,644...100,410,273
JBrowse link
G RPL36A ribosomal protein L36a IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,391,011...101,396,155
Ensembl chr  X:101,390,824...101,396,155
JBrowse link
G RPL36A-HNRNPH2 RPL36A-HNRNPH2 readthrough IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,391,011...101,414,133
Ensembl chr  X:101,391,011...101,412,297
JBrowse link
G SRPX2 sushi repeat containing protein X-linked 2 IAGP 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 More... NCBI chr  X:100,644,199...100,675,788
Ensembl chr  X:100,644,195...100,675,788
JBrowse link
G SYTL4 synaptotagmin like 4 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:100,674,491...100,732,121
Ensembl chr  X:100,671,783...100,732,123
JBrowse link
G TAF7L TATA-box binding protein associated factor 7 like IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,268,257...101,293,083
Ensembl chr  X:101,268,253...101,293,057
JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742
JBrowse link
G TMEM35A transmembrane protein 35A IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:101,078,879...101,096,367
Ensembl chr  X:101,078,879...101,096,367
JBrowse link
G TNMD tenomodulin IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:100,584,936...100,599,885
Ensembl chr  X:100,584,936...100,599,885
JBrowse link
G TRMT2B tRNA methyltransferase 2 homolog B IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:100,973,366...101,052,111
Ensembl chr  X:101,009,346...101,052,116
JBrowse link
G TSPAN6 tetraspanin 6 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:100,627,108...100,637,104
Ensembl chr  X:100,627,108...100,639,991
JBrowse link
G XKRX XK related X-linked IAGP ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:100,886,916...100,959,343
Ensembl chr  X:100,913,445...100,929,433
JBrowse link
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A IAGP 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 More... NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,182,928
JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP ClinVar Annotator: match by term: Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662
JBrowse link
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
ClinVar Annotator: match by term: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
OMIM
ClinVar
PMID:10072049 PMID:23526554 PMID:24291220 PMID:27281533 PMID:28492532 More... NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22089
    syndrome 11463
      electroclinical syndrome 1120
        absence epilepsy 137
          adolescence-adult electroclinical syndrome + 42
          childhood electroclinical syndrome + 101
Path 2
Term Annotations click to browse term
  disease 22089
    disease of anatomical entity 20653
      nervous system disease 16546
        central nervous system disease 14416
          brain disease 13513
            epilepsy 2971
              electroclinical syndrome 1120
                absence epilepsy 137
                  adolescence-adult electroclinical syndrome + 42
                  childhood electroclinical syndrome + 101
paths to the root