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GENE - TERM ANNOTATION REPORT

RGD ID: 2244
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Cacna1a
Name: calcium voltage-gated channel subunit alpha1 A
Acc ID: DOID:0111181
Term: familial hemiplegic migraine 1
Definition: A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/books/NBK1388/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8898206 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Cacna1a ISOCACNA1A (Homo sapiens)7240710OMIM  
Cacna1a ISOCACNA1A (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:11985388 PMID:24849341
Cacna1a ISOCACNA1A (Homo sapiens)8554872ClinVarClinVar 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 migrainePMID:10024348 PMID:10371528 PMID:10408532 PMID:10408534 PMID:10734061 PMID:10987655 PMID:11061267 PMID:11176968 PMID:11409427 PMID:11439943 PMID:11814735 PMID:11960817 PMID:11971066 PMID:12056940 PMID:12111613 PMID:12235360 PMID:12707077 PMID:12756131 PMID:14718690 PMID:15032980 PMID:15240985 PMID:15452324 PMID:15743764 PMID:15795222 PMID:16043807 PMID:16199547 PMID:16508934 PMID:17142831 PMID:17292920 PMID:17588611 PMID:18056581 PMID:18279427 PMID:18313928 PMID:18400034 PMID:18437043 PMID:18581134 PMID:19242091 PMID:19344873 PMID:19486177 PMID:19520699 PMID:19586927 PMID:19624685 PMID:20080591 PMID:20129625 PMID:20301562 PMID:20837964 PMID:21734179 PMID:22000314 PMID:22190617 PMID:22249839 PMID:22527033 PMID:22784462 PMID:22969264 PMID:23183922 PMID:23407676 PMID:23934111 PMID:23961289 PMID:24033266 PMID:24270521 PMID:24486772 PMID:24498617 PMID:24996492 PMID:25266619 PMID:25274239 PMID:25326635 PMID:25716839 PMID:25735478 PMID:25741868 PMID:25851414 PMID:25969684 PMID:26467025 PMID:26716990 PMID:26814174 PMID:26912519 PMID:27066515 PMID:27250579 PMID:27959697 PMID:28007337 PMID:28169007 PMID:28492532 PMID:28566750 PMID:28856914 PMID:28900389 PMID:28978442 PMID:29056246 PMID:29100083 PMID:29165669 PMID:29444203 PMID:29915382 PMID:30063100 PMID:30283815 PMID:31468518 PMID:31487502 PMID:31506931 PMID:31692161 PMID:31824404 PMID:32170034 PMID:33084218 PMID:33098801 PMID:33144682 PMID:33278787 PMID:34102571 PMID:34436362 PMID:35401678 PMID:35722745 PMID:36530930 PMID:7537420 PMID:8734765 PMID:8898206 PMID:9329229 PMID:9488686 PMID:9566402 PMID:97053792 PMID:9915947
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