Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

RGD ID: 10265
Species: Mus musculus
RGD Object: Gene
Symbol: Cacna1a
Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
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/, https://www.ncbi.nlm.nih.gov/pubmed/8898206
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:7359507240710OMIM  
 ISORGD:7359508554872ClinVarClinVar Annotator: match by OMIM:141500

PMID:10408532
 ISORGD:7359508554872ClinVarClinVar Annotator: match by OMIM:141500

PMID:11439943
 ISORGD:7359508554872ClinVarClinVar Annotator: match by OMIM:141500

PMID:7537420
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Familial hemiplegic migraine type 1

PMID:10408532, PMID:22784462, PMID:26467025, PMID:28492532
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Familial hemiplegic migraine type 1

PMID:10408534, PMID:10734061, PMID:11176968, PMID:11439943, PMID:12056940, PMID:12707077, PMID:17142831, PMID:18056581, PMID:22527033, PMID:24486772, PMID:24498617, PMID:25969684, PMID:26467025
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Familial hemiplegic migraine type 1

PMID:11061267, PMID:11439943, PMID:8898206, PMID:9915947
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Familial hemiplegic migraine type 1

PMID:11179022, PMID:11564488, PMID:11723274, PMID:12707077, PMID:14718690, PMID:15300451, PMID:15483044, PMID:1564484, PMID:15710862, PMID:16043807, PMID:16325861, PMID:16595610, PMID:17142831, PMID:17495624, PMID:17575281, PMID:18498393, PMID:18541804, PMID:18940563, PMID:19484318, PMID:19811514, PMID:20097664, PMID:20129625, PMID:20156848, PMID:20204399, PMID:20233618, PMID:20682717, PMID:21183743, PMID:22249839, PMID:23441182, PMID:23771276, PMID:23831250, PMID:23934111, PMID:25735478, PMID:25741868, PMID:25758715, PMID:26814174, PMID:27476654, PMID:28742085, PMID:3358708, PMID:8898206, PMID:8988170, PMID:9005860, PMID:9302278, PMID:9403487, PMID:9436730, PMID:9559993, PMID:9879686
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Familial hemiplegic migraine type 1

PMID:11409427, PMID:18313928, PMID:23934111, PMID:25741868
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Familial hemiplegic migraine type 1

PMID:15032980, PMID:18400034, PMID:26467025
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Familial hemiplegic migraine type 1

PMID:15452324
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Familial hemiplegic migraine type 1

PMID:16866717, PMID:25741868, PMID:26467025
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Familial hemiplegic migraine type 1

PMID:18644040, PMID:25741868, PMID:26467025, PMID:27066515, PMID:28492532, PMID:8898206
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Familial hemiplegic migraine type 1

PMID:19586927
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Familial hemiplegic migraine type 1

PMID:25326635, PMID:25741868
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Familial hemiplegic migraine type 1

PMID:25741868
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Familial hemiplegic migraine type 1

PMID:25741868, PMID:26467025
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Familial hemiplegic migraine type 1

PMID:25741868, PMID:28492532
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Familial hemiplegic migraine type 1

PMID:26467025, PMID:28492532
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Familial hemiplegic migraine type 1

PMID:26467025, PMID:8898206
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Familial hemiplegic migraine type 1

PMID:8734765, PMID:8898206, PMID:97053792
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Familial hemiplegic migraine type 1

PMID:8898206, PMID:97053792
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia

PMID:10024348, PMID:10987655, PMID:11439943, PMID:11814735, PMID:11971066, PMID:12056940, PMID:12756131, PMID:14718690, PMID:15795222, PMID:22000314, PMID:22190617, PMID:22969264, PMID:24270521, PMID:25274239, PMID:25741868, PMID:26467025, PMID:28169007, PMID:28492532, PMID:8898206, PMID:9488686, PMID:97053792, PMID:9915947
 ISORGD:73595011554173CTDCTD Direct Evidence: marker/mechanism

PMID:11985388, PMID:24849341
Go Back to source page   Continue to Ontology report

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.