Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 1q24 Deletion Syndrome | | ISO | CACNA1E (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome | ClinVar | PMID:21548129 more ... | autosomal recessive chronic granulomatous disease 2 | | ISO | CACNA1E (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Granulomatous disease more ... | ClinVar | PMID:28492532 | Coma | | ISO | CACNA1E (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Episodic coma | ClinVar | PMID:28492532 | developmental and epileptic encephalopathy | | ISO | CACNA1E (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar | PMID:17660294 more ... | developmental and epileptic encephalopathy 69 | | ISO | CACNA1E (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | early infantile epileptic encephalopathy | | ISO | CACNA1E (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar | PMID:17660294 more ... | gastrointestinal stromal tumor | | ISO | CACNA1E (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar | PMID:28492532 | genetic disease | | ISO | CACNA1E (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17660294 more ... | intellectual disability | | ISO | CACNA1E (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 and PMID:28492532 | parathyroid carcinoma | | ISO | CACNA1E (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Parathyroid carcinoma | ClinVar | PMID:28492532 | Van der Woude syndrome | | ISO | CACNA1E (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Van der Woude syndrome 1 | ClinVar | PMID:17660294 more ... | Wolff-Parkinson-White syndrome | | ISO | CACNA1E (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
RGD Manual Annotations
Imported Annotations - KEGG (archival)
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
Disease Annotations
Click to see Annotation Detail View
Gene-Chemical Interaction Annotations
Click to see Annotation Detail View
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Gene Ontology Annotations
Click to see Annotation Detail View
Biological Process
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Cellular Component
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Molecular Function
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Molecular Pathway Annotations
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Phenotype Annotations
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Mammalian Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Voltage-gated calcium channels. | Catterall WA Cold Spring Harb Perspect Biol. 2011 Aug 1;3(8):a003947. doi: 10.1101/cshperspect.a003947. |
| 2. | Mice lacking Ca(v)2.3 (alpha1E) calcium channel exhibit hyperglycemia. | Matsuda Y, etal., Biochem Biophys Res Commun 2001 Dec 14;289(4):791-5. |
| 3. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 4. | MGD IEA | MGD IEA |
| 5. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 6. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 7. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 8. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
Additional References at PubMed
| PMID:8071363 | PMID:8661716 | PMID:9651528 | PMID:9927670 | PMID:10349636 | PMID:10441734 | PMID:10501973 | PMID:10801976 | PMID:11042159 | PMID:11076861 | PMID:11102459 | PMID:11217851 |
| PMID:11263998 | PMID:11296258 | PMID:11689014 | PMID:11854466 | PMID:11893922 | PMID:11923483 | PMID:11959138 | PMID:12060068 | PMID:12074836 | PMID:12154172 | PMID:12437986 | PMID:12477932 |
| PMID:12818950 | PMID:12827191 | PMID:12895422 | PMID:12900400 | PMID:12973680 | PMID:14976402 | PMID:15258581 | PMID:15451373 | PMID:15610184 | PMID:15630454 | PMID:15777780 | PMID:16141072 |
| PMID:16141073 | PMID:16381801 | PMID:16452087 | PMID:16631598 | PMID:16686648 | PMID:16910173 | PMID:16924481 | PMID:16985003 | PMID:17114649 | PMID:17224406 | PMID:17369816 | PMID:17376845 |
| PMID:18834942 | PMID:19193890 | PMID:19320717 | PMID:19657020 | PMID:19726083 | PMID:20188150 | PMID:21103408 | PMID:21267068 | PMID:21482359 | PMID:21695265 | PMID:21873635 | PMID:21883984 |
| PMID:22009744 | PMID:22240250 | PMID:23015445 | PMID:23086800 | PMID:24381275 | PMID:24453333 | PMID:24523520 | PMID:24790266 | PMID:25603538 | PMID:26418566 | PMID:27321927 | PMID:27426949 |
| PMID:28393090 | PMID:28614186 | PMID:28671696 | PMID:28706196 | PMID:29274300 | PMID:30521978 | PMID:30786075 | PMID:30877033 | PMID:31040226 | PMID:31704946 | PMID:31827421 | PMID:32375703 |
| PMID:32581705 | PMID:32616470 | PMID:33009476 | PMID:33913808 | PMID:34321999 | PMID:35045307 | PMID:35176221 | PMID:35267086 | PMID:35324301 | PMID:35864088 | PMID:37141091 | PMID:38081835 |
| PMID:38187761 |
Genomics
Comparative Map Data
| Cacna1e (Mus musculus - house mouse) |
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| CACNA1E (Homo sapiens - human) |
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| Cacna1e (Rattus norvegicus - Norway rat) |
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| Cacna1e (Chinchilla lanigera - long-tailed chinchilla) |
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| CACNA1E (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CACNA1E (Canis lupus familiaris - dog) |
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| Cacna1e (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CACNA1E (Sus scrofa - pig) |
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| CACNA1E (Chlorocebus sabaeus - green monkey) |
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| Cacna1e (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Cacna1e
13792 total Variants 
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