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 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
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Bdnf
brain-derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16835697
NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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Hbegf
heparin-binding EGF-like growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr18:29,330,302...29,340,185
Ensembl chr18:29,329,764...29,340,403
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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 chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
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Lgi1
leucine-rich, glioma inactivated 1
IMP
RGD
PMID:30813600
RGD:14995940
NCBI chr 1:256,955,944...256,996,835
Ensembl chr 1:256,955,652...256,999,253
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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 1:75,356,212...75,394,757
Ensembl chr 1:75,356,220...75,394,758
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Mbd5
methyl-CpG binding domain protein 5
ISO
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:33,364,812...33,504,144
Ensembl chr 3:33,440,191...33,504,238
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Nes
nestin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16137769
NCBI chr 2:187,343,109...187,352,972
Ensembl chr 2:187,344,056...187,352,969
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Ngf
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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Ntf3
neurotrophin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16023256
NCBI chr 4:158,636,883...158,705,886
Ensembl chr 4:158,636,884...158,705,886
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Oxt
oxytocin/neurophysin I prepropeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4988877 PMID:6407273
NCBI chr 3:123,106,694...123,107,534
Ensembl chr 3:123,106,694...123,107,534
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Pcdh19
protocadherin 19
ISO
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
NCBI chr X:104,387,346...104,493,914
Ensembl chr X:104,391,607...104,493,757
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:4371370
NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
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Scn1a
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: tonic-clonic convulsions
ClinVar
PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611
NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
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Scn8a
sodium voltage-gated channel alpha subunit 8
ISO
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
PMID:25741868
NCBI chr 7:142,575,629...142,683,659
Ensembl chr 7:142,575,672...142,684,114
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Slc25a24
solute carrier family 25 member 24
ISO
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
PMID:25741868
NCBI chr 2:211,930,371...211,967,511
Ensembl chr 2:211,930,326...211,967,505
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Sptan1
spectrin, alpha, non-erythrocytic 1
ISO
ClinVar Annotator: match by term: Tonic-clonic convulsions
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:8,534,437...8,599,259
Ensembl chr 3:8,534,440...8,599,260
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Samd12
sterile alpha motif domain containing 12
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1
OMIM ClinVar
PMID:29507423 PMID:29939203
NCBI chr 7:92,995,599...93,286,757
Ensembl chr 7:92,993,330...93,502,591
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Stard7
StAR-related lipid transfer domain containing 7
ISO
OMIM
NCBI chr 3:119,698,655...119,727,303
Ensembl chr 3:119,698,652...119,727,347
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Marchf6
membrane associated ring-CH-type finger 6
ISO
OMIM
NCBI chr 2:84,533,546...84,608,743
Ensembl chr 2:84,536,669...84,608,712
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Yeats2
YEATS domain containing 2
ISO
OMIM
NCBI chr11:84,330,064...84,595,296
Ensembl chr11:84,330,064...84,583,542
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Cntn2
contactin 2
ISO
ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 5 ClinVar Annotator: match by OMIM:615400
OMIM ClinVar
PMID:23518707 PMID:25741868 PMID:28492532
NCBI chr13:49,280,913...49,314,061
Ensembl chr13:49,285,310...49,313,940
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Tnrc6a
trinucleotide repeat containing adaptor 6A
ISO
ClinVar Annotator: match by term: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6
ClinVar OMIM
PMID:29507423
NCBI chr 1:192,991,584...193,146,403
Ensembl chr 1:193,076,430...193,146,394
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Rapgef2
Rap guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7
ClinVar OMIM
PMID:25741868 PMID:29507423
NCBI chr 2:177,836,191...178,057,378
Ensembl chr 2:177,836,202...178,057,157
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Clcn2
chloride voltage-gated channel 2
susceptibility
ISO
ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
ClinVar OMIM
PMID:12612585 PMID:15252188 PMID:15505175 PMID:16932951 PMID:17567819 PMID:19191339 PMID:19710712 PMID:21703448 PMID:25741868
NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
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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
ClinVar OMIM
PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 PMID:20551311 PMID:21714819 PMID:24623842 PMID:25741868 PMID:26467025 PMID:26918889 PMID:27521439 PMID:28251550 PMID:28492532
NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
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Chrna7
cholinergic receptor nicotinic alpha 7 subunit
ISO
ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 7
ClinVar
PMID:25326635 PMID:25741868
NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
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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:17159113 PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 9:27,068,505...27,107,713
Ensembl chr 9:27,068,443...27,107,709
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Brd2
bromodomain containing 2
ISO
DNA:SNPs:promoter (human)
RGD
PMID:12830434
RGD:1358444
NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426 Ensembl chr20:3,910,555...3,917,426
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Cacna1g
calcium voltage-gated channel subunit alpha1 G
ISO
ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
ClinVar
NCBI chr10:82,129,071...82,197,828
Ensembl chr10:82,129,506...82,197,848
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Cacnb4
calcium voltage-gated channel auxiliary subunit beta 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myoclonic epilepsy
CTD ClinVar
PMID:10762541 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 3:37,950,846...38,211,478
Ensembl chr 3:37,955,069...38,090,526
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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 3:60,445,657...60,460,724
Ensembl chr 3:60,445,666...60,460,724
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Efhc1
EF-hand domain containing 1
susceptibility
ISO
ClinVar Annotator: match by OMIM:254770 ClinVar Annotator: match by term: Myoclonic Epilepsy, Juvenile, 1 ClinVar Annotator: match by term: Juvenile myoclonic epilepsy ClinVar Annotator: match by term: Myoclonic epilepsy, juvenile 1
ClinVar OMIM
PMID:8737649 PMID:12439895 PMID:15258581 PMID:16839746 PMID:17054699 PMID:17159113 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:28370826 PMID:28492532
NCBI chr 9:27,068,505...27,107,713
Ensembl chr 9:27,068,443...27,107,709
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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 chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
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Jrk
Jrk helix-turn-helix protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11463517
NCBI chr 7:115,941,788...115,946,471
Ensembl chr 7:115,942,743...115,946,425
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Cilk1
ciliogenesis associated kinase 1
susceptibility
ISO
OMIM
NCBI chr 8:85,413,998...85,473,374
Ensembl chr 8:85,413,537...85,472,694
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