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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:migraine with aura
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Accession:DOID:10024 term browser browse the term
Definition:A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. (DO)
Synonyms:exact_synonym: Classic Migraine;   Classical Migraine;   Complicated Migraine;   Hemiplegic-Ophthalmoplegic Migraine;   Migraine Aura without Headache;   Migraine with Acute Onset Aura;   acute onset aura migraine;   basilar artery migraine;   basilar migraine;   basilar migraines;   basilar type migraine;   migraine with auras;   migraine with prolonged aura;   migraine with typical aura;   prolonged aura migraine;   typical aura without headache
 related_synonym: MGR13;   MGR7;   MGR9;   migraine with aura, susceptibility to, 7;   migraine with aura, susceptibility to, 9
 primary_id: MESH:D020325
 alt_id: OMIM:609179;   OMIM:609670
 xref: EFO:0005295;   ICD10CM:G43.1;   ICD9CM:346.0;   MONDO:0005475;   NCI:C117005
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
migraine with aura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO RGD PMID:12953268 RGD:1358436 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO DNA:mutation:cds:P.V1457L(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:35115687 PMID:10408532 RGD:10054422 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO DNA:insertion, deletion:5' utr:g.-4767+?--4688-? (human) RGD PMID:17095019 RGD:1625569 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Drd2 dopamine receptor D2 ISO DNA:snp:cds:p.H313H (human) RGD PMID:9513185 RGD:1358603 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Hmox2 heme oxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35115687 NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148 		JBrowse link
G Mpped2 metallophosphoesterase domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35115687 NCBI chr 3:93,180,895...93,355,605
Ensembl chr 3:93,181,167...93,355,618 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T(human) RGD PMID:21635773 RGD:7387244 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Migraine with aura ClinVar PMID:32581362 NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO DNA:snp:intron:g.36670T>C rs7217270 (human) RGD PMID:22162417 RGD:7175557 NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296 		JBrowse link
familial hemiplegic migraine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:9536098 PMID:11439943 PMID:12023326 PMID:12539047 PMID:14667076 More... NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Atp1a4 ATPase Na+/K+ transporting subunit alpha 4 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISS
ISO		 OMIM:141500 | OMIM:300125 | OMIM:602481 | OMIM:607516 | OMIM:609634
ClinVar Annotator: match by term: Familial hemiplegic migraine		 MouseDO
ClinVar		 PMID:8734765 PMID:8898206 PMID:9488686 PMID:9566402 PMID:9915947 More... NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Casq1 calsequestrin 1 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr13:84,670,648...84,680,339
Ensembl chr13:84,670,649...84,680,339 		JBrowse link
G Copa COPI coat complex subunit alpha ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr13:84,546,483...84,586,879
Ensembl chr13:84,545,943...84,586,874 		JBrowse link
G Dcaf8 DDB1 and CUL4 associated factor 8 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr13:84,609,838...84,667,025
Ensembl chr13:84,610,248...84,669,726 		JBrowse link
G Igsf8 immunoglobulin superfamily, member 8 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr13:84,770,348...84,781,534
Ensembl chr13:84,770,279...84,778,576 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr13:84,780,826...84,787,928
Ensembl chr13:84,779,741...84,787,928 		JBrowse link
G Ncstn nicastrin ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454 		JBrowse link
G Pea15 proliferation and apoptosis adaptor protein 15 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr13:84,657,815...84,667,437
Ensembl chr13:84,654,870...84,667,499 		JBrowse link
G Pex19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr13:84,592,277...84,608,793
Ensembl chr13:84,592,312...84,608,608 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:18621678 PMID:19220312 PMID:20301562 PMID:25741868 PMID:26467025 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
familial hemiplegic migraine 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Migraine, familial hemiplegic 1, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 | ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Sporadic hemiplegic migraine
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7537420 PMID:8734765 PMID:8898206 PMID:9329229 PMID:9488686 More... NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Wdr45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 ClinVar PMID:25741868 NCBI chr  X:14,776,280...14,782,202
Ensembl chr  X:14,776,293...14,782,202 		JBrowse link
familial hemiplegic migraine 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO
ISS		 ClinVar Annotator: match by term: Migraine, familial hemiplegic, 2
OMIM:602481
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:9579893 PMID:11439943 PMID:12023326 PMID:12539047 More... NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
familial hemiplegic migraine 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Migraine, familial hemiplegic, 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1893099 PMID:9536098 PMID:11254444 PMID:11254445 PMID:11359211 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
Sporadic Hemiplegic Migraine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Sporadic hemiplegic migraine ClinVar PMID:10408534 PMID:10734061 PMID:11176968 PMID:11439943 PMID:12056940 More... NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            Headache Disorders 66
              Primary Headache Disorders 66
                migraine 65
                  migraine with aura 21
                    Sporadic Hemiplegic Migraine 1
                    familial hemiplegic migraine + 14
paths to the root