Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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 ISO ClinVar Annotator: match by term: Absence seizure ClinVar PMID:25741868 NCBI chr15:99,935,119...100,117,355
Ensembl chr15:99,936,545...100,117,354
JBrowse link
G Efhc1 EF-hand domain (C-terminal) containing 1 ISO ClinVar Annotator: match by term: Epilepsy, Absence ClinVar PMID:12439895 PMID:15258581 PMID:17159113 PMID:17634063 PMID:18414213 More... NCBI chr 1:21,021,776...21,061,065
Ensembl chr 1:21,021,850...21,061,065
JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha ISO ClinVar Annotator: match by term: Absence seizure ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 More... NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184
JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha ISO ClinVar Annotator: match by term: Absence seizure ClinVar PMID:25741868 NCBI chr 2:66,310,424...66,465,456
Ensembl chr 2:66,310,424...66,465,306
JBrowse link
benign epilepsy with centrotemporal spikes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asah1 N-acylsphingosine amidohydrolase 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 8:41,793,683...41,850,681
Ensembl chr 8:41,793,234...41,827,810
JBrowse link
G Chd2 chromodomain helicase DNA binding protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 7:73,076,400...73,191,494
Ensembl chr 7:73,076,386...73,191,578
JBrowse link
G Cntnap2 contactin associated protein-like 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 6:45,036,995...47,278,330
Ensembl chr 6:45,036,291...47,281,147
JBrowse link
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 1:10,366,016...10,790,277
Ensembl chr 1:10,394,945...10,790,170
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:8596935 PMID:9054946 PMID:9342192 PMID:15329070 PMID:15483648 More... NCBI chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456
JBrowse link
G Depdc5 DEP domain containing 5 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:24591017 PMID:25741868 PMID:26505888 PMID:28492532 PMID:29358611 NCBI chr 5:33,020,989...33,151,577
Ensembl chr 5:33,021,045...33,151,580
JBrowse link
G Epm2a epilepsy, progressive myoclonic epilepsy, type 2 gene alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr10:11,218,435...11,335,408
Ensembl chr10:11,219,148...11,335,388
JBrowse link
G Gabrg2 gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:23708187 PMID:25726841 PMID:25730860 PMID:27864268 PMID:28492532 More... NCBI chr11:41,801,017...41,891,684
Ensembl chr11:41,801,030...41,891,684
JBrowse link
G Grin1 glutamate receptor, ionotropic, NMDA1 (zeta 1) ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 2:25,181,189...25,209,199
Ensembl chr 2:25,181,193...25,209,199
JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) ISO 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 chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424
JBrowse link
G Ier3ip1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr18:77,017,723...77,029,310
Ensembl chr18:77,017,713...77,029,308
JBrowse link
G Kcnq2 potassium voltage-gated channel, subfamily Q, member 2 ISO ClinVar Annotator: match by term: Benign Rolandic epilepsy ClinVar PMID:18625963 NCBI chr 2:180,717,372...180,777,368
Ensembl chr 2:180,717,372...180,777,093
JBrowse link
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 chr15:65,858,223...66,158,485
Ensembl chr15:65,858,236...66,158,491
JBrowse link
G Kcnt1 potassium channel, subfamily T, member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 2:25,753,807...25,808,285
Ensembl chr 2:25,753,746...25,808,285
JBrowse link
G Maf avian musculoaponeurotic fibrosarcoma oncogene homolog ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 8:116,429,992...116,433,633
Ensembl chr 8:116,409,681...116,434,533
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213 PMID:19214208 PMID:19752159 PMID:20713952 PMID:25741868 More... NCBI chr  X:132,483,609...132,589,802
Ensembl chr  X:132,483,609...132,589,736
JBrowse link
G Plcb1 phospholipase C, beta 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 2:134,628,084...135,317,178
Ensembl chr 2:134,627,987...135,317,178
JBrowse link
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 chr15:93,396,992...93,494,147
Ensembl chr15:93,396,995...93,493,772
JBrowse link
G Prickle2 prickle planar cell polarity protein 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 6:92,347,873...92,683,464
Ensembl chr 6:92,347,889...92,683,136
JBrowse link
G Rbfox1 RNA binding protein, fox-1 homolog (C. elegans) 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:26467025 PMID:28346479 PMID:28492532 PMID:29358611 NCBI chr16:5,702,566...7,230,344
Ensembl chr16:5,703,219...7,229,390
JBrowse link
G Rbfox3 RNA binding protein, fox-1 homolog (C. elegans) 3 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr11:118,380,586...118,802,423
Ensembl chr11:118,380,588...118,802,423
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:14515139 PMID:14593429 PMID:20697953 PMID:24828792 PMID:25620207 More... NCBI chr 5:22,089,452...22,549,703
Ensembl chr 5:22,089,452...22,549,700
JBrowse link
G Scarb2 scavenger receptor class B, member 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 5:92,589,170...92,653,516
Ensembl chr 5:92,589,173...92,654,692
JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:11254445 PMID:12610651 PMID:18021921 PMID:19200853 PMID:19522081 More... NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184
JBrowse link
G Scn1b sodium channel, voltage-gated, type I, beta ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 7:30,815,949...30,826,448
Ensembl chr 7:30,815,949...30,826,428
JBrowse link
G Scn2a sodium channel, voltage-gated, type II, alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 2:65,451,108...65,597,791
Ensembl chr 2:65,451,115...65,597,791
JBrowse link
G Scn9a sodium channel, voltage-gated, type IX, alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:18414213 PMID:20478850 PMID:24776970 PMID:24848745 PMID:25250524 More... NCBI chr 2:66,310,424...66,465,456
Ensembl chr 2:66,310,424...66,465,306
JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:29358611 NCBI chr 4:118,965,942...118,994,527
Ensembl chr 4:118,965,908...118,995,180
JBrowse link
G Slc6a1 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 6:114,259,596...114,294,491
Ensembl chr 6:114,259,596...114,294,493
JBrowse link
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr 4:124,960,465...124,967,836
Ensembl chr 4:124,960,465...124,967,835
JBrowse link
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 chr 2:29,855,572...29,921,463
Ensembl chr 2:29,855,572...29,921,463
JBrowse link
G Strada STE20-related kinase adaptor alpha ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:28492532 PMID:29358611 NCBI chr11:106,053,800...106,084,460
Ensembl chr11:106,054,156...106,092,994
JBrowse link
G Szt2 SZT2 subunit of KICSTOR complex ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:28492532 PMID:29358611 NCBI chr 4:118,219,937...118,266,483
Ensembl chr 4:118,219,940...118,266,470
JBrowse link
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 chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Rolandic epilepsy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611 NCBI chr 8:115,166,377...116,079,451
Ensembl chr 8:115,166,395...116,079,447
JBrowse link
childhood absence epilepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO DNA:mutation:cds:752T>A (p.M251K)(rat)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17196942 PMID:17196942 RGD:1598976 NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875
JBrowse link
G Cacna1h calcium channel, voltage-dependent, T type, alpha 1H subunit 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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:12891677 PMID:14729682 PMID:15048902 PMID:15852375 PMID:15888660 More... RGD:1358447 NCBI chr17:25,593,259...25,655,308
Ensembl chr17:25,593,259...25,652,757
JBrowse link
G Cacna2d2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14660671 NCBI chr 9:107,276,948...107,406,545
Ensembl chr 9:107,276,811...107,406,542
JBrowse link
G Cacng2 calcium channel, voltage-dependent, gamma subunit 2 ISO mRNA,protein:increased expression:somatosensory cortex, primary motor cortex RGD PMID:18556211 RGD:13524553 NCBI chr15:77,876,119...78,004,420
Ensembl chr15:77,875,948...78,004,228
JBrowse link
G Cacng3 calcium channel, voltage-dependent, gamma subunit 3 ISO
ISS
MouseDO
RGD
PMID:11904235 RGD:728397 NCBI chr 7:122,270,967...122,368,616
Ensembl chr 7:122,269,715...122,368,616
JBrowse link
G Efhc1 EF-hand domain (C-terminal) containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:21,021,776...21,061,065
Ensembl chr 1:21,021,850...21,061,065
JBrowse link
G Gabra1 gamma-aminobutyric acid (GABA) A receptor, subunit alpha 1 ISO ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4 ClinVar PMID:16718694 NCBI chr11:42,021,766...42,073,893
Ensembl chr11:42,021,766...42,073,757
JBrowse link
G Gabra6 gamma-aminobutyric acid (GABA) A receptor, subunit alpha 6 ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:28492532 NCBI chr11:42,197,264...42,211,977
Ensembl chr11:42,197,264...42,211,899
JBrowse link
G Gabrb3 gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 susceptibility ISO DNA:SNPs
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 chr 7:57,240,266...57,478,550
Ensembl chr 7:57,069,440...57,478,550
JBrowse link
G Gabrg2 gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2 ISO
ISS
DNA:snp:intron:IVS6+2T>G (human) MouseDO
RGD
PMID:12117362 RGD:1358631 NCBI chr11:41,801,017...41,891,684
Ensembl chr11:41,801,030...41,891,684
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO protein:increased expression:thalamus RGD PMID:10975907 RGD:6484590 NCBI chr14:34,032,684...34,066,990
Ensembl chr14:34,032,684...34,067,222
JBrowse link
G Grik1 glutamate receptor, ionotropic, kainate 1 ISO
ISS
MouseDO
RGD
PMID:9259378 RGD:1358334 NCBI chr16:87,692,789...88,087,751
Ensembl chr16:87,692,788...88,087,153
JBrowse link
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO RGD PMID:15182313 RGD:9686420 NCBI chr13:117,738,856...118,117,564
Ensembl chr13:117,738,856...118,123,954
JBrowse link
G Htr7 5-hydroxytryptamine (serotonin) receptor 7 ISO RGD PMID:15050708 RGD:6480686 NCBI chr19:35,935,815...36,035,533
Ensembl chr19:35,936,134...36,034,907
JBrowse link
G Jrk jerky ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr15:74,574,261...74,581,171
Ensembl chr15:74,574,150...74,581,384
JBrowse link
G Kcnk9 potassium channel, subfamily K, member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15781965 NCBI chr15:72,373,722...72,422,415
Ensembl chr15:72,372,938...72,418,189
JBrowse link
G Lgi4 leucine-rich repeat LGI family, member 4 ISO
ISS
DNA:point mutation: :c.1914G>A (human) MouseDO
RGD
PMID:14505228 RGD:1302591 NCBI chr 7:30,758,360...30,770,360
Ensembl chr 7:30,758,767...30,770,360
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:20303372 RGD:8547934 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Npy neuropeptide Y treatment ISO
ISS
MouseDO
RGD
PMID:17331209 PMID:24039965 RGD:10448963, RGD:10448964 NCBI chr 6:49,799,690...49,806,487
Ensembl chr 6:49,799,690...49,806,487
JBrowse link
G Npy1r neuropeptide Y receptor Y1 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 8:67,149,595...67,159,452
Ensembl chr 8:67,149,844...67,159,444
JBrowse link
G Npy2r neuropeptide Y receptor Y2 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 3:82,445,690...82,456,310
Ensembl chr 3:82,445,690...82,455,391
JBrowse link
G Npy5r neuropeptide Y receptor Y5 treatment ISO RGD PMID:17331209 RGD:10448963 NCBI chr 8:67,132,617...67,140,746
Ensembl chr 8:67,132,617...67,140,780
JBrowse link
G Scn1b sodium channel, voltage-gated, type I, beta ISO ClinVar Annotator: match by term: Childhood absence epilepsy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:30,815,949...30,826,448
Ensembl chr 7:30,815,949...30,826,428
JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 onset ISO
ISS
DNA:deletion, missense mutations, SNP:multiple MouseDO
RGD
PMID:26537434 RGD:11058811 NCBI chr 4:118,965,942...118,994,527
Ensembl chr 4:118,965,908...118,995,180
JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide ISO protein:increased expression:parietal lobe RGD PMID:21310218 RGD:9587483 NCBI chr15:36,770,505...36,803,228
Ensembl chr15:36,771,014...36,797,173
JBrowse link
Childhood Absence Epilepsy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp10a ATPase, class V, type 10A ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:28492532 NCBI chr 7:58,305,896...58,479,783
Ensembl chr 7:58,305,914...58,479,168
JBrowse link
G Gabra5 gamma-aminobutyric acid (GABA) A receptor, subunit alpha 5 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:11198279 PMID:28492532 NCBI chr 7:57,057,417...57,240,808
Ensembl chr 7:57,057,420...57,159,807
JBrowse link
G Gabrb3 gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:2828157 PMID:9536098 PMID:11198279 PMID:11742254 PMID:12189488 More... NCBI chr 7:57,240,266...57,478,550
Ensembl chr 7:57,069,440...57,478,550
JBrowse link
G Rorb RAR-related orphan receptor beta ISO ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1 ClinVar PMID:25950944 NCBI chr19:18,907,966...19,088,560
Ensembl chr19:18,907,969...19,088,560
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 (GABA) A receptor, subunit gamma 2 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 More... NCBI chr11:41,801,017...41,891,684
Ensembl chr11:41,801,030...41,891,684
JBrowse link
childhood electroclinical syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit IEA MouseDO NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15121994 NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
JBrowse link
G Bdnf brain derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
JBrowse link
G Cux2 cut-like homeobox 2 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar NCBI chr 5:121,996,025...122,188,522
Ensembl chr 5:121,994,429...122,188,165
JBrowse link
G Cyp2d22 cytochrome P450, family 2, subfamily d, polypeptide 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16835697 NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), beta 1 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:27108799 PMID:32134617 NCBI chr 4:155,575,757...155,643,726
Ensembl chr 4:155,575,818...155,643,726
JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr18:36,637,980...36,648,858
Ensembl chr18:36,637,980...36,648,858
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 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652
JBrowse link
G Lgi1 leucine-rich repeat LGI family, member 1 ISO RGD PMID:30813600 RGD:14995940 NCBI chr19:38,253,135...38,297,387
Ensembl chr19:38,252,984...38,300,662
JBrowse link
G Lig1 ligase I, DNA, ATP-dependent ISO RGD PMID:30813600 RGD:14995940 NCBI chr 7:13,011,101...13,045,351
Ensembl chr 7:13,011,239...13,045,350
JBrowse link
G Mbd5 methyl-CpG binding domain protein 5 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:48,839,511...49,209,702
Ensembl chr 2:48,839,520...49,215,417
JBrowse link
G Nes nestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16137769 NCBI chr 3:87,878,400...87,887,758
Ensembl chr 3:87,878,385...87,887,758
JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
JBrowse link
G Ntf3 neurotrophin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16023256 NCBI chr 6:126,078,375...126,143,734
Ensembl chr 6:126,078,375...126,143,873
JBrowse link
G Oxt oxytocin ISO CTD Direct Evidence: marker/mechanism CTD PMID:4988877 PMID:6407273 NCBI chr 2:130,416,432...130,418,974
Ensembl chr 2:130,418,093...130,418,974
JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr  X:132,483,609...132,589,802
Ensembl chr  X:132,483,609...132,589,736
JBrowse link
G Pomc pro-opiomelanocortin-alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:4371370 NCBI chr12:4,004,945...4,010,643
Ensembl chr12:4,004,951...4,010,642
JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 More... NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184
JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819
JBrowse link
G Slc25a24 solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 24 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 NCBI chr 3:109,030,465...109,075,725
Ensembl chr 3:109,030,465...109,075,773
JBrowse link
G Snap25 synaptosomal-associated protein 25 ISO ClinVar Annotator: match by term: Epilepsy with generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:33299146 NCBI chr 2:136,555,359...136,624,348
Ensembl chr 2:136,555,373...136,624,348
JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Generalized tonic-clonic seizures ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:29,855,572...29,921,463
Ensembl chr 2:29,855,572...29,921,463
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 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1 OMIM
ClinVar
NCBI chr15:53,262,514...53,765,926
Ensembl chr15:53,317,206...53,765,933
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 adrenergic receptor, alpha 2b ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 ClinVar PMID:25741868 NCBI chr 2:127,205,099...127,209,141
Ensembl chr 2:127,205,128...127,209,141
JBrowse link
G Stard7 START domain containing 7 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 OMIM
ClinVar
NCBI chr 2:127,112,122...127,140,855
Ensembl chr 2:127,112,138...127,140,852
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 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3 OMIM
ClinVar
NCBI chr15:31,456,045...31,531,670
Ensembl chr15:31,456,037...31,531,199
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 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 4 OMIM
ClinVar
PMID:25741868 NCBI chr16:19,959,803...20,051,323
Ensembl chr16:19,959,813...20,051,323
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 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 OMIM
ClinVar
PMID:9536098 PMID:11178983 PMID:16199547 PMID:17576681 PMID:23518707 More... NCBI chr 1:132,437,163...132,470,989
Ensembl chr 1:132,437,165...132,470,994
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 6a ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 7:122,630,324...122,794,519
Ensembl chr 7:122,723,108...122,794,519
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 (GEF) 2 ISO ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7 OMIM
ClinVar
PMID:25741868 NCBI chr 3:78,969,818...79,194,681
Ensembl chr 3:78,969,823...79,193,824
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 channel, voltage-sensitive 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 More... NCBI chr16:20,521,185...20,536,496
Ensembl chr16:20,521,714...20,536,496
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 (GABA) A receptor, subunit alpha 1 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 More... NCBI chr11:42,021,766...42,073,893
Ensembl chr11:42,021,766...42,073,757
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 polypeptide 7 ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25326635 PMID:25741868 NCBI chr 7:62,748,440...62,862,274
Ensembl chr 7:62,748,440...62,862,317
JBrowse link
G Efhc1 EF-hand domain (C-terminal) containing 1 ISO ClinVar Annotator: match by term: EIG7 ClinVar PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr 1:21,021,776...21,061,065
Ensembl chr 1:21,021,850...21,061,065
JBrowse link
G Scn3a sodium channel, voltage-gated, type III, alpha ISO ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7 ClinVar PMID:25741868 NCBI chr 2:65,287,462...65,397,935
Ensembl chr 2:65,287,462...65,397,971
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 (C-terminal) 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 More... NCBI chr 1:21,021,776...21,061,065
Ensembl chr 1:21,021,850...21,061,065
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 ISO
ISS
DNA:SNPs:promoter (human)
OMIM:254770
MouseDO
RGD
PMID:12830434 RGD:1358444 NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608
JBrowse link
G Cacna1g calcium channel, voltage-dependent, T type, alpha 1G subunit ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar NCBI chr11:94,299,217...94,365,226
Ensembl chr11:94,299,217...94,365,024
JBrowse link
G Cacnb4 calcium channel, voltage-dependent, beta 4 subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EJM1 | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD
ClinVar
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532 NCBI chr 2:52,318,332...52,566,816
Ensembl chr 2:52,318,332...52,566,843
JBrowse link
G Chrna1 cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle) ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar PMID:28492532 NCBI chr 2:73,393,625...73,410,682
Ensembl chr 2:73,393,559...73,410,682
JBrowse link
G Efhc1 EF-hand domain (C-terminal) containing 1 susceptibility IEA
ISO
OMIM:254770 | OMIM:608816 | OMIM:611364 | OMIM:614280
ClinVar Annotator: match by term: EJM1 | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy | ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
OMIM
PMID:8737649 PMID:9536098 PMID:12439895 PMID:15258581 PMID:16839746 More... NCBI chr 1:21,021,776...21,061,065
Ensembl chr 1:21,021,850...21,061,065
JBrowse link
G Gabra1 gamma-aminobutyric acid (GABA) A receptor, subunit alpha 1 ISO ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr11:42,021,766...42,073,893
Ensembl chr11:42,021,766...42,073,757
JBrowse link
G Jrk jerky ISO CTD Direct Evidence: marker/mechanism CTD PMID:11463517 NCBI chr15:74,574,261...74,581,171
Ensembl chr15:74,574,150...74,581,384
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 ISO OMIM NCBI chr 9:78,016,425...78,079,396
Ensembl chr 9:78,016,474...78,079,389
JBrowse link
Landau-Kleffner syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1810013L24Rik RIKEN cDNA 1810013L24 gene ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:8,647,964...8,676,788
Ensembl chr16:8,647,964...8,676,786
JBrowse link
G Abat 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:8,331,293...8,439,432
Ensembl chr16:8,331,293...8,439,432
JBrowse link
G Carhsp1 calcium regulated heat stable protein 1 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:8,476,444...8,490,017
Ensembl chr16:8,476,444...8,490,019
JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Landau-Kleffner syndrome
CTD
ClinVar
PMID:7574460 PMID:9526012 PMID:9536098 PMID:10996561 PMID:16199547 More... NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424
JBrowse link
G Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2) ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:25741868 NCBI chr 6:135,690,219...136,150,658
Ensembl chr 6:135,690,231...136,150,509
JBrowse link
G Itsn2 intersectin 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:25741868 NCBI chr12:4,642,792...4,763,952
Ensembl chr12:4,642,638...4,763,962
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:8,455,467...8,475,472
Ensembl chr16:8,455,538...8,480,331
JBrowse link
G Sptan1 spectrin alpha, non-erythrocytic 1 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:29,855,572...29,921,463
Ensembl chr 2:29,855,572...29,921,463
JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:8,451,595...8,455,575
Ensembl chr16:8,451,093...8,455,576
JBrowse link
G Usp7 ubiquitin specific peptidase 7 ISO ClinVar Annotator: match by term: Landau-Kleffner syndrome ClinVar PMID:28492532 NCBI chr16:8,506,586...8,574,931
Ensembl chr16:8,507,459...8,610,172
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 IEA OMIM:606369 MouseDO NCBI chr 1:87,780,942...87,872,900
Ensembl chr 1:87,781,009...87,872,902
JBrowse link
G Gabrg2 gamma-aminobutyric acid (GABA) A receptor, subunit gamma 2 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:41,801,017...41,891,684
Ensembl chr11:41,801,030...41,891,684
JBrowse link
G Gatm glycine amidinotransferase (L-arginine:glycine amidinotransferase) ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar NCBI chr 2:122,424,954...122,441,758
Ensembl chr 2:122,424,948...122,441,784
JBrowse link
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 More... NCBI chr15:65,858,223...66,158,485
Ensembl chr15:65,858,236...66,158,491
JBrowse link
G Mapk10 mitogen-activated protein kinase 10 ISO ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type ClinVar PMID:16249883 NCBI chr 5:103,056,413...103,360,470
Ensembl chr 5:103,055,814...103,359,200
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:15181170 PMID:15351195 PMID:16401742 PMID:19578034 PMID:19752458 More... NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
JBrowse link
G Scn1a sodium channel, voltage-gated, type I, alpha ISO ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type ClinVar PMID:17347258 PMID:19589774 PMID:26633542 PMID:28492532 NCBI chr 2:66,101,125...66,271,181
Ensembl chr 2:66,101,122...66,271,184
JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO ClinVar Annotator: match by term: Lennox-Gastaut syndrome ClinVar PMID:28492532 NCBI chr 2:44,873,524...45,007,454
Ensembl chr 2:44,873,644...45,007,407
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 13A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:133,088,250...133,108,779
Ensembl chr  X:133,088,250...133,108,777
JBrowse link
G Btk Bruton agammaglobulinemia tyrosine kinase ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319
JBrowse link
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:133,206,777...133,263,853
Ensembl chr  X:133,208,833...133,263,388
JBrowse link
G Cstf2 cleavage stimulation factor, 3' pre-RNA subunit 2 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:132,959,925...132,987,571
Ensembl chr  X:132,959,936...132,987,568
JBrowse link
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:133,304,873...133,357,323
Ensembl chr  X:133,305,300...133,357,322
JBrowse link
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:133,488,918...133,501,875
Ensembl chr  X:133,488,898...133,501,874
JBrowse link
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:133,501,928...133,507,809
Ensembl chr  X:133,501,928...133,507,809
JBrowse link
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:132,987,170...133,038,455
Ensembl chr  X:132,987,170...133,122,705
JBrowse link
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:132,483,609...132,589,802
Ensembl chr  X:132,483,609...132,589,736
JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:133,486,403...133,488,811
Ensembl chr  X:133,486,403...133,488,811
JBrowse link
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 More... NCBI chr  X:132,809,155...132,833,195
Ensembl chr  X:132,809,175...132,833,195
JBrowse link
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:132,837,134...132,882,569
Ensembl chr  X:132,837,134...132,882,561
JBrowse link
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:133,360,865...133,377,254
Ensembl chr  X:133,360,867...133,377,239
JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:133,438,005...133,442,419
Ensembl chr  X:133,438,005...133,442,614
JBrowse link
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:133,195,974...133,206,718
Ensembl chr  X:133,195,974...133,206,718
JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:132,751,757...132,766,326
Ensembl chr  X:132,751,729...132,766,326
JBrowse link
G Trmt2b TRM2 tRNA methyltransferase 2B ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:133,123,704...133,177,770
Ensembl chr  X:133,123,088...133,177,733
JBrowse link
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:132,791,817...132,801,957
Ensembl chr  X:132,791,817...132,799,178
JBrowse link
G Xkrx X-linked Kx blood group related, X-linked ISO ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked ClinVar PMID:28492532 NCBI chr  X:133,049,786...133,086,747
Ensembl chr  X:133,049,792...133,062,825
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 receptor, ionotropic, NMDA2A (epsilon 1) 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 More... NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424
JBrowse link
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 2:29,855,572...29,921,463
Ensembl chr 2:29,855,572...29,921,463
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 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 More... NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15283
    syndrome 9183
      electroclinical syndrome 980
        absence epilepsy 127
          adolescence-adult electroclinical syndrome + 41
          childhood electroclinical syndrome + 91
Path 2
Term Annotations click to browse term
  disease 15283
    disease of anatomical entity 14933
      nervous system disease 12611
        central nervous system disease 10980
          brain disease 10290
            epilepsy 2636
              electroclinical syndrome 980
                absence epilepsy 127
                  adolescence-adult electroclinical syndrome + 41
                  childhood electroclinical syndrome + 91
paths to the root