Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Brugada syndrome | | ISO | RGD:1347000 | 8554872 | ClinVar Annotator: match by term: Brugada syndrome | ClinVar | | Brugada syndrome | | ISO | RGD:1347000 | 8554872 | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome SUNDS | ClinVar | PMID:19122847 more ... | Brugada syndrome 6 | | ISO | RGD:1347000 | 8554872 | ClinVar Annotator: match by term: Brugada syndrome 6 | ClinVar | PMID:11207363 more ... | Brugada syndrome 6 | | ISO | RGD:1347000 | 8554872 | ClinVar Annotator: match by term: Brugada syndrome 6 | ClinVar | PMID:19306396 more ... | Brugada syndrome 6 | | ISO | RGD:1347000 | 8554872 | ClinVar Annotator: match by term: Brugada syndrome 6 | ClinVar | PMID:19122847 more ... | Brugada syndrome 6 | | ISO | RGD:1347000 | 8554872 | ClinVar Annotator: match by term: Brugada syndrome 6 | ClinVar | PMID:25741868, PMID:28492532 | Brugada syndrome 6 | | ISO | RGD:1347000 | 8554872 | ClinVar Annotator: match by term: Brugada syndrome 6 | ClinVar | PMID:24033266, PMID:28492532 | Brugada syndrome 6 | | ISO | RGD:1347000 | 8554872 | ClinVar Annotator: match by term: Brugada syndrome 6 | ClinVar | PMID:19306396, PMID:28492532 | Brugada syndrome 6 | | ISO | RGD:1347000 | 8554872 | ClinVar Annotator: match by term: Brugada syndrome 6 | ClinVar | PMID:16313760 more ... | Brugada syndrome 6 | | ISO | RGD:1347000 | 8554872 | ClinVar Annotator: match by term: Brugada syndrome 6 | ClinVar | PMID:18209471, PMID:28492532 | Brugada syndrome 6 | | ISO | RGD:1347000 | 8554872 | ClinVar Annotator: match by term: Brugada syndrome 6 | ClinVar | PMID:28492532 | cardiomyopathy | | ISO | RGD:1347000 | 8554872 | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar | PMID:11207363 more ... | long QT syndrome | | ISO | RGD:1347000 | 8554872 | ClinVar Annotator: match by term: Long Q-T syndrome | ClinVar | PMID:25741868 | Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities | | ISO | RGD:1347000 | 8554872 | ClinVar Annotator: match by term: ENCEPHALOPATHY more ... | ClinVar | PMID:19306396 more ... | Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities | | ISO | RGD:1347000 | 8554872 | ClinVar Annotator: match by term: LIPOYLTRANSFERASE 2 DEFICIENCY | ClinVar | PMID:11207363 more ... | Sudden Unexpected Nocturnal Death Syndrome | | ISO | RGD:1347000 | 8554872 | ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome | ClinVar | PMID:19122847 more ... | Syncope | | ISO | RGD:1347000 | 8554872 | ClinVar Annotator: match by term: Syncope | ClinVar | PMID:11207363 more ... | Ventricular Fibrillation | | ISO | RGD:1347000 | 8554872 | ClinVar Annotator: match by term: Ventricular fibrillation | ClinVar | PMID:11207363 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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
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References
References - curated
| 1. | Abbott GW, etal., Cell. 2001 Jan 26;104(2):217-31. |
| 2. | Alzamora R, etal., J Physiol. 2011 Nov 1;589(Pt 21):5091-107. doi: 10.1113/jphysiol.2011.215772. Epub 2011 Sep 12. |
| 3. | Boucherot A, etal., J Membr Biol 2001 Jul 1;182(1):39-47. |
| 4. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 5. | Lewis A, etal., J Biol Chem. 2004 Feb 27;279(9):7884-92. Epub 2003 Dec 16. |
| 6. | McCrossan ZA, etal., J Neurosci. 2003 Sep 3;23(22):8077-91. |
| 7. | MGD data from the GO Consortium |
| 8. | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 9. | OMIM Disease Annotation Pipeline |
| 10. | RGD automated data pipeline |
| 11. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 12. | RGD automated import pipeline for gene-chemical interactions |
| 13. | RGD comprehensive gene curation |
Additional References at PubMed
| PMID:10646604 | PMID:11220365 | PMID:12477932 | PMID:15489334 | PMID:20533308 | PMID:22987075 |
Genomics
