Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | epilepsy | | ISO | RGD:733103 | 8554872 | ClinVar more ... | ClinVar | PMID:21504429 more ... | familial temporal lobe epilepsy 1 | | ISO | RGD:733103 | 8554872 | ClinVar more ... | ClinVar | PMID:11810107 more ... | genetic disease | | ISO | RGD:733103 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | Genitopatellar Syndrome | | ISO | RGD:733103 | 8554872 | ClinVar Annotator: match by term: Genitopatellar syndrome | ClinVar | PMID:25741868 | intellectual disability | | ISO | RGD:733103 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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
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Molecular Function
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
Disease Annotations
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | A rat model for LGI1-related epilepsies. | Baulac S, etal., Hum Mol Genet. 2012 Aug 15;21(16):3546-57. doi: 10.1093/hmg/dds184. Epub 2012 May 15. |
| 2. | Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. | Fukata Y, etal., Science. 2006 Sep 22;313(5794):1792-5. |
| 3. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 4. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 5. | ADAM22 and ADAM23 modulate the targeting of the Kv1 channel-associated protein LGI1 to the axon initial segment. | Hivert B, etal., J Cell Sci. 2019 Jan 16;132(2). pii: jcs.219774. doi: 10.1242/jcs.219774. |
| 6. | Down-Regulation of Astrocytic Kir4.1 Channels during the Audiogenic Epileptogenesis in Leucine-Rich Glioma-Inactivated 1 (Lgi1) Mutant Rats. | Kinboshi M, etal., Int J Mol Sci. 2019 Feb 26;20(5). pii: ijms20051013. doi: 10.3390/ijms20051013. |
| 7. | Suppression of the cell proliferation and invasion phenotypes in glioma cells by the LGI1 gene. | Kunapuli P, etal., Oncogene 2003 Jun 26;22(26):3985-91. |
| 8. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 9. | 5 alpha-pregnane-3 alpha, 21-diol-20-one (THDOC) attenuates mild stress-induced increases in plasma corticosterone via a non-glucocorticoid mechanism: comparison with alprazolam. | Owens MJ, etal., Brain Res 1992 Feb 28;573(2):353-5. |
| 10. | GOA pipeline | RGD automated data pipeline |
| 11. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 12. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 13. | A common protein interaction domain links two recently identified epilepsy genes. | Scheel H, etal., Hum Mol Genet 2002 Jul 15;11(15):1757-62. |
| 14. | The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1. | Schulte U, etal., Neuron. 2006 Mar 2;49(5):697-706. |
| 15. | Identification of the promoter, genomic structure, and mouse ortholog of LGI1. | Somerville RP, etal., Mamm Genome 2000 Aug;11(8):622-7. |
| 16. | The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders. | Staub E, etal., Trends Biochem Sci 2002 Sep;27(9):441-4. |
Additional References at PubMed
| PMID:12477932 | PMID:15857855 | PMID:17067999 | PMID:19756693 | PMID:20133599 | PMID:20463223 | PMID:23525710 | PMID:24406746 | PMID:25931508 |
Genomics
