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: Dravet syndrome
Accession: DOID:0080422
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Definition: A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. (DO)
Synonyms: exact_synonym: DEE6; DEE6A; Dravet syndromes; EIEE6; SMEI; developmental and epileptic encephalopathy 6; developmental and epileptic encephalopathy 6A; early infantile epileptic encephalopathy 6; severe myoclonic epilepsy in infancy; severe myoclonic epilepsy of infancy
primary_id: OMIM:607208
alt_id: DOID:0060171
xref: GARD:10430 ; NCI:C116573 ; NCI:C147071 ; ORDO:33069
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BRAT1
BRCA1 associated ATM activator 1
ISO
ClinVar Annotator: match by term: Dravet syndrome
ClinVar
PMID:22279524 PMID:25500575 PMID:25741868 PMID:28492532 PMID:29390993
NCBI chr 3:1,905,648...1,918,229
Ensembl chr 3:1,905,656...1,918,227
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CGN
cingulin
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 4:97,704,805...97,730,498
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GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
NCBI chr16:61,441,622...61,543,375
Ensembl chr16:61,441,632...61,543,361
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LYSMD1
LysM domain containing 1
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 4:98,082,551...98,093,427
Ensembl chr 4:98,082,540...98,095,322
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PI4KB
phosphatidylinositol 4-kinase beta
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 4:97,918,234...97,949,929
Ensembl chr 4:97,918,245...97,949,931
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PIP5K1A
phosphatidylinositol-4-phosphate 5-kinase type 1 alpha
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 4:98,012,941...98,062,166
Ensembl chr 4:98,012,945...98,056,815
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POGZ
pogo transposable element derived with ZNF domain
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 4:97,776,579...97,833,287
Ensembl chr 4:97,776,589...97,833,282
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PSMB4
proteasome 20S subunit beta 4
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 4:97,835,544...97,837,909
Ensembl chr 4:97,835,547...97,837,921
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PSMD4
proteasome 26S subunit ubiquitin receptor, non-ATPase 4
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 4:97,994,060...98,004,727
Ensembl chr 4:97,994,065...98,004,688
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RFX5
regulatory factor X5
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 4:97,901,955...97,913,283
Ensembl chr 4:97,902,172...97,913,283
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SCN1A
sodium voltage-gated channel alpha subunit 1
ISO
ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6A | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 6 | ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Early Infantile Epileptic Encephalopathy 6 | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
OMIM ClinVar
PMID:1893009 PMID:1893099 PMID:9536098 PMID:9573403 PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11567038 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12566275 PMID:12610651 PMID:12754708 PMID:12821740 PMID:12919402 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15087100 PMID:15263074 PMID:15277629 PMID:15508916 PMID:16199547 PMID:16210358 PMID:16458823 PMID:16541393 PMID:16713913 PMID:16713920 PMID:17000989 PMID:17054684 PMID:17054685 PMID:17166794 PMID:17347258 PMID:17537961 PMID:17561957 PMID:17576681 PMID:17903680 PMID:18021921 PMID:18031552 PMID:18056581 PMID:18076640 PMID:18413471 PMID:18414213 PMID:18554359 PMID:18566737 PMID:18680191 PMID:18755274 PMID:18804930 PMID:18930999 PMID:19200853 PMID:19236456 PMID:19350499 PMID:19359143 PMID:19522081 PMID:19563349 PMID:19563458 PMID:19585586 PMID:19586930 PMID:19589774 PMID:19673951 PMID:19782004 PMID:19809937 PMID:20100831 PMID:20110217 PMID:20117752 PMID:20301494 PMID:20431604 PMID:20452746 PMID:20491869 PMID:20522430 PMID:20550552 PMID:20562086 PMID:20600615 PMID:20729507 PMID:20831750 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21425109 PMID:21555645 PMID:21703448 PMID:21713554 PMID:21719429 PMID:21753172 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22140375 PMID:22147323 PMID:22150645 PMID:22151702 PMID:22156295 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:22944210 PMID:23086956 PMID:23195492 PMID:23398611 PMID:23527921 PMID:23662938 PMID:23708187 PMID:23762420 PMID:23773995 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23917401 PMID:23934111 PMID:24066114 PMID:24136861 PMID:24155976 PMID:24168886 PMID:24328833 PMID:24412860 PMID:24502503 PMID:24656210 PMID:24679980 PMID:24776920 PMID:25206388 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25459968 PMID:25459969 PMID:25525159 PMID:25590135 PMID:25669891 PMID:25741868 PMID:25741869 PMID:25754450 PMID:25818041 PMID:25885068 PMID:25986186 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26232052 PMID:26394714 PMID:26467025 PMID:26544041 PMID:26633542 PMID:26699486 PMID:26845707 PMID:26990884 PMID:26993267 PMID:27113213 PMID:27197941 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27781031 PMID:27864847 PMID:27959697 PMID:28012175 PMID:28074849 PMID:28079314 PMID:28084635 PMID:28102150 PMID:28148630 PMID:28150151 PMID:28186331 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28488083 PMID:28492532 PMID:28518168 PMID:28544625 PMID:28664031 PMID:28708303 PMID:28794249 PMID:28837158 PMID:28864458 PMID:29056246 PMID:29100083 PMID:29141279 PMID:29142202 PMID:29186148 PMID:29190809 PMID:29314583 PMID:29358611 PMID:29408779 PMID:29460957 PMID:29655203 PMID:29745119 PMID:29760947 PMID:29852413 PMID:29930392 PMID:29948376 PMID:29981888 PMID:30034362 PMID:30142967 PMID:30146492 PMID:30182498 PMID:30311386 PMID:30321769 PMID:30368457 PMID:30525188 PMID:30577886 PMID:30619928 PMID:30659983 PMID:30735520 PMID:30868114 PMID:30921204 PMID:30945278 PMID:31001185 PMID:31009440 PMID:31031587 PMID:31069529 PMID:31102827 PMID:31139143 PMID:31164858 PMID:31439038 PMID:31487502 PMID:31618474 PMID:31755124 PMID:31765958 PMID:31780880 PMID:31791873 PMID:31864146 PMID:31875159 PMID:32056211 PMID:32090326 PMID:32238909 PMID:32461654 PMID:32488064 PMID:32538476 PMID:32573669 PMID:32581362 PMID:32593896 PMID:32613771 PMID:32702657 PMID:32845893 PMID:33067208 PMID:33084218 PMID:33278787 PMID:33674996 PMID:34015165 PMID:34163418 PMID:34268891 PMID:34338318 PMID:34379890 PMID:34489640 PMID:34539730 PMID:35074891 PMID:35087721 PMID:35571373 PMID:35663268 PMID:35886038 PMID:36158059 PMID:36229510 PMID:36684540 More...
NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066
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SCN1B
sodium voltage-gated channel beta subunit 1
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 6:44,597,461...44,607,488
Ensembl chr 6:44,597,482...44,607,481
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SCN2A
sodium voltage-gated channel alpha subunit 2
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
NCBI chr15:71,864,753...71,999,219
Ensembl chr15:71,864,784...71,999,211
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SCN9A
sodium voltage-gated channel alpha subunit 9
ISO
ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 PMID:25250524 PMID:25741868 PMID:25993546 PMID:26264438 PMID:26467025 PMID:26675522 PMID:26920677 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29264398 PMID:29911575 PMID:30316835 More...
NCBI chr15:72,745,706...72,912,352
Ensembl chr15:72,748,705...72,912,382
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SELENBP1
selenium binding protein 1
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 4:97,860,925...97,894,007
Ensembl chr 4:97,837,981...97,894,301
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SNX27
sorting nexin 27
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25894286 PMID:28492532 PMID:31957018 More...
NCBI chr 4:97,533,643...97,620,816
Ensembl chr 4:97,525,181...97,620,788
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TMOD4
tropomodulin 4
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 4:98,074,380...98,079,346
Ensembl chr 4:98,074,387...98,079,343
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TNFAIP8L2
TNF alpha induced protein 8 like 2
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 4:98,093,426...98,096,819
Ensembl chr 4:98,093,426...98,096,531
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TUFT1
tuftelin 1
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 4:97,648,817...97,704,654
Ensembl chr 4:97,648,818...97,703,592
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VPS72
vacuolar protein sorting 72 homolog
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 4:98,062,261...98,074,074
Ensembl chr 4:98,062,256...98,074,059
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ZNF687
zinc finger protein 687
ISO
ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
ClinVar
PMID:28492532
NCBI chr 4:97,949,931...97,959,058
Ensembl chr 4:97,949,931...97,958,882
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