Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

RGD ID: 735950
Species: Homo sapiens
RGD Object: Gene
Symbol: CACNA1A
Name: calcium voltage-gated channel subunit alpha1 A
Acc ID: DOID:0080454
Term: developmental and epileptic encephalopathy 42
Definition: A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development 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 "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 IAGP 7240710OMIM  
CACNA1A EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42PMID:17576681 PMID:25735478 PMID:26467025 PMID:28492532 PMID:33349592 PMID:9536098
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:10371528 PMID:16199547 PMID:19486177 PMID:25735478 PMID:25741868 PMID:27250579 PMID:28492532 PMID:31618753
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:20156848 PMID:24108129 PMID:25356970 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30167989
CACNA1A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42PMID:25741868 PMID:26467025 PMID:28492532
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:22249839 PMID:25741868 PMID:27959697 PMID:28007337 PMID:28492532 PMID:29056246 PMID:29100083 PMID:30283815 PMID:31468518 PMID:31487502
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:28492532 PMID:28742085 PMID:29056246 PMID:31015257 PMID:35600082
CACNA1A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42PMID:25741868 PMID:28492532
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:23934111 PMID:25741868 PMID:27476654 PMID:28455667 PMID:28492532 PMID:29186148
CACNA1A IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:23934111
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42PMID:23103419 PMID:25741868 PMID:26467025 PMID:28492532
CACNA1A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42PMID:25741868
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:10371528 PMID:16199547 PMID:19486177 PMID:25735478 PMID:25741868 PMID:27250579 PMID:28492532
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42PMID:25741868 PMID:26467025 PMID:28492532 PMID:28540055
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:19811514 PMID:20097664 PMID:21183743 PMID:22249839 PMID:23831250 PMID:25596066 PMID:25741868 PMID:25758715 PMID:26467025 PMID:26814174 PMID:28007337 PMID:28492532 PMID:31139143 PMID:34102571
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:10371528 PMID:12420090 PMID:19486177 PMID:20129625 PMID:20396531 PMID:25735478 PMID:25741868 PMID:26467025 PMID:27250579 PMID:28492532 PMID:28566750 PMID:32581362 PMID:33425808 PMID:35837781
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:24091540 PMID:25741868 PMID:28492532
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:25326635 PMID:25741868
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42PMID:25741868 PMID:28492532 PMID:29276004
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:25741868 PMID:28455667 PMID:28492532
CACNA1A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42PMID:28492532
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 PMID:32910250
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42PMID:25741868 PMID:28492532 PMID:29915382
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:10371528 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532 PMID:29926469
CACNA1A IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:25741868 PMID:26467025
CACNA1A IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:25741868 PMID:28492532 PMID:31468518
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:25741868 PMID:28492532 PMID:33278787 PMID:35217970
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:25741868 PMID:26467025 PMID:26912519 PMID:27066515 PMID:28444220 PMID:28492532 PMID:30142438 PMID:31654490 PMID:34806130 PMID:35401678 PMID:35722745 PMID:37555011
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:10371528 PMID:19486177 PMID:25735478 PMID:25741868 PMID:27066515 PMID:27250579 PMID:28492532 PMID:31440721
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:10371528 PMID:19486177 PMID:25735478 PMID:25741868 PMID:27250579 PMID:28492532 PMID:30852237
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:26467025 PMID:28492532
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:10371528 PMID:16043807 PMID:16199547 PMID:19486177 PMID:25735478 PMID:25741868 PMID:26467025 PMID:26912519 PMID:27250579 PMID:28492532 PMID:31506931 PMID:33144682 PMID:36530930
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:25741868 PMID:26467025 PMID:29713557 PMID:29852413 PMID:31447099
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42PMID:25741868 PMID:26423924 PMID:28492532
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42PMID:11439943 PMID:18437043 PMID:25741868 PMID:28492532 PMID:30063100 PMID:32170034
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:25741868 PMID:28492532 PMID:32238909
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:10371528 PMID:19486177 PMID:25735478 PMID:25741868 PMID:26467025 PMID:27250579 PMID:28492532
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:15136697 PMID:25741868 PMID:26467025
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:25741868 PMID:28007337 PMID:28492532 PMID:29056246 PMID:29100083 PMID:30283815 PMID:31468518
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:25741868 PMID:32901917
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:10371528 PMID:19486177 PMID:25735478 PMID:27250579 PMID:28492532
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:25741868 PMID:28007337 PMID:28492532 PMID:30283815 PMID:31468518
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42PMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42PMID:25596066 PMID:25741868 PMID:28492532
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:10455105 PMID:25735478 PMID:25741868 PMID:28566750 PMID:29486580 PMID:30142438 PMID:32910250 PMID:34531397
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:25741868 PMID:26467025 PMID:31468518
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:18606230 PMID:20129625 PMID:25741868 PMID:28566750 PMID:31468518
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:10408533 PMID:25741868 PMID:28566750 PMID:30142438 PMID:31468518
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42PMID:10371528 PMID:18606230 PMID:19486177 PMID:25735478 PMID:25741868 PMID:26467025 PMID:27165006 PMID:27250579 PMID:28492532 PMID:28566750
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:25741868 PMID:28492532 PMID:33425808
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:18597946 PMID:25741868 PMID:28007337 PMID:28492532 PMID:29997391 PMID:31115040 PMID:33163565 PMID:33425808 PMID:33790770 PMID:34356170
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:25741868 PMID:32860008
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:29758562
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:10024348 PMID:10987655 PMID:11439943 PMID:11814735 PMID:11971066 PMID:12056940 PMID:12756131 PMID:14718690 PMID:15795222 PMID:16508934 PMID:18279427 PMID:20301562 PMID:22000314 PMID:22190617 PMID:22969264 PMID:24270521 PMID:24498617 PMID:25266619 PMID:25274239 PMID:25741868 PMID:26467025 PMID:28169007 PMID:28492532 PMID:28856914 PMID:29915382 PMID:30063100 PMID:31692161 PMID:31824404 PMID:33098801 PMID:8898206 PMID:9488686 PMID:97053792 PMID:9915947
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:11409427 PMID:15743764 PMID:18313928 PMID:18581134 PMID:19520699 PMID:20301562 PMID:23934111 PMID:25735478 PMID:25741868 PMID:28492532
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:15240985 PMID:15452324 PMID:20837964 PMID:25741868 PMID:28492532
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:10408533 PMID:20682717 PMID:25735478 PMID:25741868 PMID:28492532 PMID:28566750 PMID:30142438 PMID:31468518 PMID:32116539 PMID:32910250
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42PMID: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
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:18513263 PMID:20129625 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29908077
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:16325861 PMID:16787562 PMID:18354422 PMID:20301674 PMID:24486772 PMID:25326635 PMID:25481746 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28742085 PMID:30011838
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42PMID:15173248 PMID:25741868 PMID:26467025 PMID:27400454 PMID:28252636 PMID:28492532 PMID:31719132 PMID:35401678
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42PMID:10408532 PMID:22784462 PMID:25741868 PMID:26467025 PMID:28492532
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42PMID:16043807 PMID:25741868 PMID:26467025 PMID:28492532
Go Back to source page   Continue to Ontology report