Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Kcns1 | Mouse | adenosine deaminase deficiency | | ISO | KCNS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Severe combined immunodeficiency more ... | ClinVar | PMID:26255240 more ... | Kcns1 | Mouse | focal epilepsy | | ISO | KCNS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Focal-onset seizure | ClinVar | PMID:32581362 | Kcns1 | Mouse | T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations | | ISO | KCNS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: T-cell immunodeficiency more ... | ClinVar | PMID:22174160 and PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
Disease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology 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. | Human neuronal changes in brain edema and increased intracranial pressure. | Faragó N, etal., Acta Neuropathol Commun. 2016 Aug 4;4(1):78. doi: 10.1186/s40478-016-0356-x. |
| 2. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
| 3. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 4. | 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. |
| 5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 6. | New modulatory alpha subunits for mammalian Shab K+ channels. | Salinas M, etal., J Biol Chem 1997 Sep 26;272(39):24371-9. |
Additional References at PubMed
| PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:16141072 | PMID:16141073 | PMID:16985003 | PMID:21873635 | PMID:25798587 | PMID:29697531 | PMID:32325033 |
| PMID:38355793 |
Genomics
Comparative Map Data
| Kcns1 (Mus musculus - house mouse) |
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| KCNS1 (Homo sapiens - human) |
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| Kcns1 (Rattus norvegicus - Norway rat) |
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| Kcns1 (Chinchilla lanigera - long-tailed chinchilla) |
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| KCNS1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| KCNS1 (Canis lupus familiaris - dog) |
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| Kcns1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| KCNS1 (Sus scrofa - pig) |
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| KCNS1 (Chlorocebus sabaeus - green monkey) |
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| Kcns1 (Heterocephalus glaber - naked mole-rat) |
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miRNA Target Status
Predicted Target Of
| The detailed report is available here: |  | Full Report | | CSV | | TAB | | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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QTLs in Region (GRCm39)
| The following QTLs overlap with this region. | | Full Report | | CSV | | TAB | | Printer | | Gviewer |
