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: adolescence-adult electroclinical syndrome
Accession: DOID:0050705
browse the term
Definition: An electroclinical syndrome with onset in adolescence and adulthood. (DO)
Synonyms: primary_id: RDO:9002464
For additional species annotation, visit the
Alliance of Genome Resources .
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15121994
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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Bdnf
brain-derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Cux2
cut-like homeobox 2
ISO
ClinVar Annotator: match by term: Generalized tonic-clonic seizures
ClinVar
NCBI chr12:34,507,723...34,707,581
Ensembl chr12:34,520,959...34,705,806
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835697
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Gnb1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Generalized tonic-clonic seizures
ClinVar
PMID:25741868 PMID:27108799 PMID:32134617
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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Hbegf
heparin-binding EGF-like growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441
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Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
IEP
protein:decreased expression:dorsal plus ventral thalamus, cerebral cortex, astrocyte projection
RGD
PMID:23603404
RGD:8662897
NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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Lgi1
leucine-rich, glioma inactivated 1
IMP
RGD
PMID:30813600
RGD:14995940
NCBI chr 1:236,043,376...236,084,270
Ensembl chr 1:236,042,954...236,084,616
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Lgi1m1Kyo
leucine-rich, glioma inactivated 1; ENU induced mutant1, Kyo
IMP
RGD
PMID:30813600
RGD:14995940
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Lig1
DNA ligase 1
IMP
RGD
PMID:30813600
RGD:14995940
NCBI chr 1:74,165,688...74,204,400
Ensembl chr 1:74,165,842...74,204,413
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Mbd5
methyl-CpG binding domain protein 5
ISO
ClinVar Annotator: match by term: Generalized tonic-clonic seizures
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:33,588,854...33,738,730
Ensembl chr 3:33,333,554...33,730,156
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Nes
nestin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16137769
NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777
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Ngf
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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Ntf3
neurotrophin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr 4:158,914,984...158,984,453
Ensembl chr 4:158,914,957...158,984,596
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Oxt
oxytocin/neurophysin I prepropeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4988877 PMID:6407273
NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
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Pcdh19
protocadherin 19
ISO
ClinVar Annotator: match by term: Generalized tonic-clonic seizures
ClinVar
PMID:25741868
NCBI chr X:96,767,686...96,873,477
Ensembl chr X:96,771,947...96,873,524
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4371370
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Scn1a
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: Generalized tonic-clonic seizures
ClinVar
PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:24679980 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 PMID:31765958 More...
NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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Scn8a
sodium voltage-gated channel alpha subunit 8
ISO
ClinVar Annotator: match by term: Generalized tonic-clonic seizures
ClinVar
PMID:25741868
NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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Slc25a24
solute carrier family 25 member 24
ISO
ClinVar Annotator: match by term: Generalized tonic-clonic seizures
ClinVar
PMID:25741868
NCBI chr 2:196,761,076...196,799,236
Ensembl chr 2:196,761,274...196,799,231
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Snap25
synaptosome associated protein 25
ISO
ClinVar Annotator: match by term: Epilepsy with generalized tonic-clonic seizures
ClinVar
PMID:25741868 PMID:33299146
NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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Sptan1
spectrin, alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Generalized tonic-clonic seizures
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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Samd12
sterile alpha motif domain containing 12
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1
OMIM ClinVar
NCBI chr 7:84,768,850...85,064,057
Ensembl chr 7:84,768,254...85,271,766
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Adra2b
adrenoceptor alpha 2B
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2
ClinVar
PMID:25741868
NCBI chr 3:114,585,174...114,589,220
Ensembl chr 3:114,585,169...114,589,355
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Stard7
StAR-related lipid transfer domain containing 7
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2
OMIM ClinVar
NCBI chr 3:114,487,163...114,515,825
Ensembl chr 3:114,485,600...114,515,813
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Marchf6
membrane associated ring-CH-type finger 6
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 3
OMIM ClinVar
NCBI chr 2:82,455,686...82,532,917
Ensembl chr 2:82,455,689...82,532,910
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Yeats2
YEATS domain containing 2
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 4
OMIM ClinVar
PMID:25741868
NCBI chr11:80,743,134...80,829,253
Ensembl chr11:80,743,134...80,829,208
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Cntn2
contactin 2
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5
OMIM ClinVar
PMID:9536098 PMID:11178983 PMID:16199547 PMID:17576681 PMID:23518707 PMID:25741868 PMID:28492532 More...
NCBI chr13:43,942,868...43,975,973
Ensembl chr13:43,947,265...43,975,887
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Tnrc6a
trinucleotide repeat containing adaptor 6A
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 6
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:177,561,898...177,715,669
Ensembl chr 1:177,646,030...177,715,660
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Rapgef2
Rap guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 7
OMIM ClinVar
PMID:25741868
NCBI chr 2:164,207,513...164,322,157
Ensembl chr 2:164,207,513...164,244,247
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Clcn2
chloride voltage-gated channel 2
susceptibility
ISO
ClinVar Annotator: match by term: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 11
OMIM ClinVar
PMID:12612585 PMID:15252188 PMID:15505175 PMID:16932951 PMID:17567819 PMID:19191339 PMID:19710712 PMID:21703448 PMID:23632988 PMID:25741868 PMID:28492532 More...
NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
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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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Chrna7
cholinergic receptor nicotinic alpha 7 subunit
ISO
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7
ClinVar
PMID:25326635 PMID:25741868
NCBI chr 1:116,715,286...116,837,223
Ensembl chr 1:116,714,711...116,837,240
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Efhc1
EF-hand domain containing 1
ISO
ClinVar Annotator: match by term: EIG7
ClinVar
PMID:25741868 PMID:28166811 PMID:28492532
NCBI chr 9:23,375,815...23,414,283
Ensembl chr 9:23,375,840...23,414,283
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Scn3a
sodium voltage-gated channel alpha subunit 3
ISO
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 7
ClinVar
PMID:25741868
NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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Efhc1
EF-hand domain containing 1
susceptibility
ISO
ClinVar Annotator: match by term: Epilepsy, juvenile absence, susceptibility to, 1
OMIM ClinVar
PMID:12439895 PMID:15258581 PMID:17159113 PMID:17634063 PMID:18414213 PMID:18823326 PMID:22226147 PMID:22690745 PMID:22926142 PMID:23527921 PMID:24965021 PMID:25489633 PMID:25625532 PMID:25741868 PMID:26467025 PMID:27467453 PMID:28370826 PMID:28492532 More...
NCBI chr 9:23,375,815...23,414,283
Ensembl chr 9:23,375,840...23,414,283
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Brd2
bromodomain containing 2
ISO ISS
DNA:SNPs:promoter (human) OMIM:254770
MouseDO RGD
PMID:12830434
RGD:1358444
NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
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Cacna1g
calcium voltage-gated channel subunit alpha1 G
ISO
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar
NCBI chr10:79,354,998...79,422,960
Ensembl chr10:79,355,008...79,422,752
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Cacnb4
calcium voltage-gated channel auxiliary subunit beta 4
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 3:36,906,771...37,169,191
Ensembl chr 3:36,910,427...37,168,944
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Chrna1
cholinergic receptor nicotinic alpha 1 subunit
ISO
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar
PMID:28492532
NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
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Efhc1
EF-hand domain containing 1
susceptibility
ISO
ClinVar Annotator: match by term: EJM1 | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy | ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8737649 PMID:9536098 PMID:12439895 PMID:15258581 PMID:16839746 PMID:17054699 PMID:17159113 PMID:17576681 PMID:17634063 PMID:18414213 PMID:18505993 PMID:18823326 PMID:20981092 PMID:22226147 PMID:22690745 PMID:22926142 PMID:23527921 PMID:24033266 PMID:24965021 PMID:25108116 PMID:25326635 PMID:25489633 PMID:25625532 PMID:25741868 PMID:26467025 PMID:27467453 PMID:28166811 PMID:28370826 PMID:28492532 More...
NCBI 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: Juvenile myoclonic epilepsy CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864
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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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Cilk1
ciliogenesis associated kinase 1
susceptibility
ISO
OMIM
NCBI chr 8:78,984,075...79,042,695
Ensembl chr 8:78,984,258...79,042,691
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