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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:0080454
Term: early infantile epileptic encephalopathy 42
Definition: An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/27476654
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 term: Epileptic encephalopathy, early infantile, 42

 
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42

PMID:10408532, PMID:22784462, PMID:26467025, PMID:28492532
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42

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:24108129, PMID:25356970, PMID:25735478, PMID:25741868, PMID:25758715, PMID:26467025, PMID:26814174, PMID:27476654, PMID:28492532, 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: Epileptic encephalopathy, early infantile, 42

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:26467025, 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: Epileptic encephalopathy, early infantile, 42

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: Epileptic encephalopathy, early infantile, 42

PMID:16043807, PMID:26467025, PMID:28492532
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42

PMID:16325861, PMID:16787562, PMID:18354422, PMID:20301674, PMID:24486772, PMID:25326635, PMID:25481746, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28742085
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42

PMID:17292920, PMID:17588611, PMID:20080591, PMID:21734179, PMID:22784462, PMID:23183922, PMID:24033266, PMID:24996492, PMID:25741868, PMID:25851414, PMID:26467025, PMID:26716990, PMID:28492532, PMID:8898206, PMID:9329229, PMID:97053792
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42

PMID:18644040, PMID:25741868, PMID:26467025, PMID:27066515, PMID:28492532, PMID:8898206
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42

PMID:18930999, PMID:24046065, PMID:25741868, PMID:28492532
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42

PMID:21703448, PMID:23869231, PMID:24033266, PMID:28492532
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42

PMID:23397224, PMID:28492532
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42

PMID:23934111
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42

PMID:25741868
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42

PMID:25741868, PMID:26467025
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42

PMID:25741868, PMID:28492532
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42

PMID:26467025, PMID:28492532
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42

PMID:26467025, PMID:28492532, PMID:28540055
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42

PMID:28455667, PMID:28492532
 ISORGD:7359508554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42

PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.