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: childhood electroclinical syndrome
Accession: DOID:0050704
browse the term
Definition: An electroclinical syndrome with onset in childhood between one and 12 years of age. (DO)
Synonyms: primary_id: RDO:9002463
alt_id: RDO:9002706
For additional species annotation, visit the
Alliance of Genome Resources .
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISS
MouseDO
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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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 chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
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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 1:127,188,146...127,317,041
Ensembl chr 1:127,190,059...127,300,502
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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 chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
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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 chr 5:8,559,745...8,888,492
Ensembl chr 5:8,526,741...8,888,485
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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...
NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
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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 chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
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Epm2a
EPM2A glucan phosphatase, laforin
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 1:5,727,111...5,845,338
Ensembl chr 1:5,727,066...5,920,555
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
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 chr10:26,376,805...26,463,680
Ensembl chr10:26,374,694...26,464,346
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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 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rolandic epilepsy
CTD ClinVar
PMID:7574460 PMID: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 chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
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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 4:132,331,372...132,342,316
Ensembl chr 4:132,332,180...132,342,316
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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 chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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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 chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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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 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
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Maf
MAF bZIP transcription factor
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:28492532 PMID:29358611
NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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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:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
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Plcb1
phospholipase C beta 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 3:122,059,968...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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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 chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
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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 chr 4:124,869,552...125,214,862
Ensembl chr 4:124,869,552...125,214,824
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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 chr10:8,152,198...10,248,120
Ensembl chr10:8,152,198...9,686,659
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Rbfox3
RNA binding fox-1 homolog 3
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr10:103,720,355...104,157,277
Ensembl chr10:103,720,636...104,156,935
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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 chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
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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 chr14:15,558,271...15,609,813
Ensembl chr14:15,558,236...15,609,813
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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 chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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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 1:86,353,917...86,363,836
Ensembl chr 1:86,353,917...86,363,739
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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 chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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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 chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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Slc2a1
solute carrier family 2 member 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:29358611
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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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 chr 4:147,448,961...147,482,295
Ensembl chr 4:147,466,965...147,482,293
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Snip1
Smad nuclear interacting protein 1
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:28492532 PMID:29358611
NCBI chr 5:137,328,371...137,335,846
Ensembl chr 5:137,328,371...137,335,845
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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 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
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Strada
STE20 related adaptor alpha
ISO
ClinVar Annotator: match by term: Rolandic epilepsy
ClinVar
PMID:28492532 PMID:29358611
NCBI chr10:91,094,849...91,123,890
Ensembl chr10:91,094,687...91,123,830
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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 chr 5:131,897,250...131,943,953
Ensembl chr 5:131,897,275...131,943,904
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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 chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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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 chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
IAGP ISO
DNA:mutation:cds:752T>A (p.M251K)(rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17196942 PMID:17196942
RGD:1598976
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Cacna1agry
calcium voltage-gated channel subunit alpha1 A; groggy mutant
IAGP
RGD
PMID:17196942
RGD:1598976
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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 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
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 PMID:12891677 More...
RGD:1358447
NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376
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Cacna2d2
calcium voltage-gated channel auxiliary subunit alpha2delta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14660671
NCBI chr 8:108,072,208...108,203,516
Ensembl chr 8:108,072,454...108,203,173
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Cacng2
calcium voltage-gated channel auxiliary subunit gamma 2
IEP
mRNA,protein:increased expression:somatosensory cortex, primary motor cortex
RGD
PMID:18556211
RGD:13524553
NCBI chr 7:109,572,838...109,698,516
Ensembl chr 7:109,574,459...109,697,227
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Cacng3
calcium voltage-gated channel auxiliary subunit gamma 3
ISO ISS
MouseDO RGD
PMID:11904235
RGD:728397
NCBI chr 1:177,201,990...177,296,473
Ensembl chr 1:177,201,288...177,297,024
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Efhc1
EF-hand domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 9:23,375,815...23,414,283
Ensembl chr 9:23,375,840...23,414,283
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Gabra1
gamma-aminobutyric acid type A receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4
ClinVar
PMID:16718694
NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864
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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 chr10:26,810,411...26,825,768
Ensembl chr10:26,810,423...26,825,769
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Gabrb3
gamma-aminobutyric acid type 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 PMID:25741868 PMID:26467025 PMID:26633545 PMID:26845707 PMID:26950270 PMID:28492532 PMID:16835263 More...
RGD:1601269
NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
ISO ISS
DNA:snp:intron:IVS6+2T>G (human)
MouseDO RGD
PMID:12117362
RGD:1358631
NCBI chr10:26,376,805...26,463,680
Ensembl chr10:26,374,694...26,464,346
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Glud1
glutamate dehydrogenase 1
IEP
protein:increased expression:thalamus
RGD
PMID:10975907
RGD:6484590
NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
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Grik1
glutamate ionotropic receptor kainate type subunit 1
ISO ISS
MouseDO RGD
PMID:9259378
RGD:1358334
NCBI chr11:27,169,739...27,571,131
Ensembl chr11:27,169,740...27,570,645
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Hcn1
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
IEP
RGD
PMID:15182313
RGD:9686420
NCBI chr 2:49,495,771...49,899,702
Ensembl chr 2:49,495,771...49,899,774
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Htr7
5-hydroxytryptamine receptor 7
IMP
RGD
PMID:15050708
RGD:6480686
NCBI chr 1:233,636,442...233,761,063
Ensembl chr 1:233,636,452...233,760,626
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Jrk
Jrk helix-turn-helix protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11463517
NCBI chr 7:106,590,662...106,595,345
Ensembl chr 7:106,589,484...106,596,371
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Kcnk9
potassium two pore domain channel subfamily K member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15781965
NCBI chr 7:104,429,186...104,473,924
Ensembl chr 7:104,437,934...104,473,175
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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 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874
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Mmp9
matrix metallopeptidase 9
IEP
RGD
PMID:20303372
RGD:8547934
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Npy
neuropeptide Y
treatment
ISO ISS IDA
MouseDO RGD
PMID:17331209 PMID:24039965
RGD:10448963 , RGD:10448964
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
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Npy1r
neuropeptide Y receptor Y1
treatment
IDA
RGD
PMID:17331209
RGD:10448963
NCBI chr16:23,037,788...23,047,330
Ensembl chr16:23,037,789...23,046,759
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Npy2r
neuropeptide Y receptor Y2
treatment
IDA
RGD
PMID:17331209
RGD:10448963
NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024
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Npy5r
neuropeptide Y receptor Y5
treatment
IDA
RGD
PMID:17331209
RGD:10448963
NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382
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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 1:86,353,917...86,363,836
Ensembl chr 1:86,353,917...86,363,739
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Slc2a1
solute carrier family 2 member 1
onset
ISO ISS
DNA:deletion, missense mutations, SNP:multiple
MouseDO RGD
PMID:26537434
RGD:11058811
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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Ywhaz
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta
IEP
protein:increased expression:parietal lobe
RGD
PMID:21310218
RGD:9587483
NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668
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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 1:109,556,760...109,730,440
Ensembl chr 1:109,556,782...109,730,437
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Gabra5
gamma-aminobutyric acid type A receptor subunit alpha 5
ISO
ClinVar Annotator: match by term: Epilepsy, childhood absence, susceptibility to, 1
ClinVar
PMID:11198279 PMID:28492532
NCBI chr 1:108,268,728...108,381,670
Ensembl chr 1:108,268,776...108,380,917
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Gabrb3
gamma-aminobutyric acid type 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 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 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
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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 1:216,363,629...216,544,390
Ensembl chr 1:216,363,629...216,544,390
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Gabrg2
gamma-aminobutyric acid type 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 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 chr10:26,376,805...26,463,680
Ensembl chr10:26,374,694...26,464,346
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Gabra1
gamma-aminobutyric acid type 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 PMID:20551311 PMID:21714819 PMID:24623842 PMID:25741868 PMID:26467025 PMID:28251550 PMID:28492532 More...
NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864
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Abat
4-aminobutyrate aminotransferase
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:28492532
NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
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Carhsp1
calcium regulated heat stable protein 1
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:28492532
NCBI chr10:6,946,036...6,960,556
Ensembl chr10:6,946,959...7,020,019
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
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 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 chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
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Grin2b
glutamate ionotropic receptor NMDA type subunit 2B
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:25741868
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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Itsn2
intersectin 2
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:25741868
NCBI chr 6:27,616,645...27,727,373
Ensembl chr 6:27,600,406...27,727,124
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Pmm2
phosphomannomutase 2
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:28492532
NCBI chr10:6,961,521...6,982,913
Ensembl chr10:6,961,709...6,983,098
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RGD1309748
similar to CG4768-PA
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:28492532
NCBI chr10:6,746,037...6,774,992
Ensembl chr10:6,746,048...6,774,992
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Sptan1
spectrin, alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
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Tmem186
transmembrane protein 186
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:28492532
NCBI chr10:6,982,938...6,986,256
Ensembl chr10:6,982,916...6,986,256
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Usp7
ubiquitin specific peptidase 7
ISO
ClinVar Annotator: match by term: Landau-Kleffner syndrome
ClinVar
PMID:28492532
NCBI chr10:6,880,684...6,925,033
Ensembl chr10:6,828,795...6,925,355
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Dgkd
diacylglycerol kinase, delta
ISS
OMIM:606369
MouseDO
NCBI chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
ISO
ClinVar Annotator: match by term: Lennox-Gastaut syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:26,376,805...26,463,680
Ensembl chr10:26,374,694...26,464,346
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Gatm
glycine amidinotransferase
ISO
ClinVar Annotator: match by term: Lennox-Gastaut syndrome
ClinVar
NCBI chr 3:109,658,919...109,675,508
Ensembl chr 3:109,658,951...109,684,129
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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 chr 7:97,730,219...98,025,652
Ensembl chr 7:97,730,465...98,025,653
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Mapk10
mitogen activated protein kinase 10
ISO
ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type
ClinVar
PMID:16249883
NCBI chr14:6,497,662...6,790,109
Ensembl chr14:6,497,707...6,786,201
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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 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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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 chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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Zeb2
zinc finger E-box binding homeobox 2
ISO
ClinVar Annotator: match by term: Lennox-Gastaut syndrome
ClinVar
PMID:28492532
NCBI chr 3:29,219,765...29,342,094
Ensembl chr 3:29,218,301...29,345,157
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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:97,380,370...97,406,704
Ensembl chr X:97,380,390...97,406,702
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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:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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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:97,515,919...97,567,671
Ensembl chr X:97,515,972...97,567,657
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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:97,253,559...97,279,476
Ensembl chr X:97,253,586...97,279,476
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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:97,607,577...97,658,115
Ensembl chr X:97,607,719...97,655,684
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Gla
galactosidase, alpha
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
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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:97,780,890...97,786,846
Ensembl chr X:97,780,785...97,787,041
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LOC100910714
60S ribosomal protein L36a-like
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr13:4,300,010...4,300,535
Ensembl chr13:4,300,026...4,300,388
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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:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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Pcdh19
protocadherin 19
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
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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:97,766,179...97,768,892
Ensembl chr X:97,766,179...97,768,892
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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:97,106,455...97,132,197
Ensembl chr X:97,106,561...97,132,195
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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:97,135,500...97,185,867
Ensembl chr X:97,135,500...97,185,854
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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:97,660,222...97,675,241
Ensembl chr X:97,660,222...97,675,023
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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:97,717,932...97,721,918
Ensembl chr X:97,717,920...97,721,960
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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:97,503,350...97,514,198
Ensembl chr X:97,503,350...97,514,197
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Tnmd
tenomodulin
ISO
ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
ClinVar
PMID:28492532
NCBI chr X:97,057,137...97,072,634
Ensembl chr X:97,057,137...97,072,634
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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:97,425,712...97,483,821
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:97,092,394...97,099,659
Ensembl chr X:97,092,388...97,099,309
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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:97,341,158...97,353,175
Ensembl chr X:97,341,152...97,354,759
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 chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
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 3:13,241,164...13,306,047
Ensembl chr 3:13,241,217...13,306,046
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 chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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