Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Autistic disorder of childhood onset | ClinVar | PMID:24121633 more ... | congenital myasthenic syndrome | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar | PMID:25741868 | congenital myasthenic syndrome | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar | PMID:24033266 | congenital myasthenic syndrome | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar | PMID:25741868, PMID:28492532 | congenital myasthenic syndrome | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar | PMID:28492532 | congenital myasthenic syndrome | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar | PMID:25741868 more ... | congenital myasthenic syndrome | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar | PMID:25450229 more ... | congenital myasthenic syndrome | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar | | congenital myasthenic syndrome 1A | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A | ClinVar | PMID:8872460 | congenital myasthenic syndrome 1A | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A | ClinVar | PMID:3651795, PMID:9158151 | congenital myasthenic syndrome 1A | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A | ClinVar | PMID:28492532 more ... | congenital myasthenic syndrome 1A | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A | ClinVar | PMID:28492532, PMID:9158151 | congenital myasthenic syndrome 1A | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A | ClinVar | PMID:16685696 | congenital myasthenic syndrome 1A | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A | ClinVar | PMID:7863154, PMID:9158151 | congenital myasthenic syndrome 1A | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1A | ClinVar | PMID:9221765 | congenital myasthenic syndrome 1A | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: CHRNA1-Related Congenital Myasthenic Syndrome | ClinVar | PMID:25741868 | congenital myasthenic syndrome 1B | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1B, fast-channel | ClinVar | PMID:12588888 | congenital myasthenic syndrome 1B | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1B, fast-channel | ClinVar | PMID:18806275, PMID:28492532 | congenital myasthenic syndrome 1B | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1B, fast-channel | ClinVar | PMID:18806275 | congenital myasthenic syndrome 1B | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1B, fast-channel | ClinVar | PMID:15079006, PMID:7254233 | congenital myasthenic syndrome 1B | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Congenital myasthenic syndrome 1B, fast-channel | ClinVar | PMID:10195214 | epilepsy | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Epilepsy | ClinVar | | genetic disease | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:9221765 | Hydrops Fetalis | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Non-immune hydrops fetalis | ClinVar | PMID:26036949 | juvenile myoclonic epilepsy | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Juvenile myoclonic epilepsy | ClinVar | PMID:28492532 | multiple pterygium syndrome | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT | ClinVar | PMID:25741868 | multiple pterygium syndrome | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT | ClinVar | | Multiple Pterygium Syndrome, Lethal Type | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Lethal multiple pterygium syndrome | ClinVar | PMID:25741868 | Multiple Pterygium Syndrome, Lethal Type | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Lethal multiple pterygium syndrome | ClinVar | PMID:18806275, PMID:28492532 | Multiple Pterygium Syndrome, Lethal Type | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Lethal multiple pterygium syndrome | ClinVar | | Multiple Pterygium Syndrome, Lethal Type | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Lethal multiple pterygium syndrome | ClinVar | PMID:24121633 more ... | Multiple Pterygium Syndrome, Lethal Type | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Lethal multiple pterygium syndrome | ClinVar | PMID:28492532, PMID:9158151 | Multiple Pterygium Syndrome, Lethal Type | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Lethal multiple pterygium syndrome | ClinVar | PMID:28492532 more ... | Multiple Pterygium Syndrome, Lethal Type | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Lethal multiple pterygium syndrome | ClinVar | PMID:18252226 | Multiple Pterygium Syndrome, Lethal Type | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Lethal multiple pterygium syndrome | ClinVar | PMID:28492532 | Multiple Pterygium Syndrome, Lethal Type | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Lethal multiple pterygium syndrome | ClinVar | PMID:25450229 more ... | Multiple Pterygium Syndrome, Lethal Type | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Lethal multiple pterygium syndrome | ClinVar | PMID:22728938, PMID:28492532 | Multiple Pterygium Syndrome, Lethal Type | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Lethal multiple pterygium syndrome | ClinVar | PMID:25741868 more ... | Multiple Pterygium Syndrome, Lethal Type | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Lethal multiple pterygium syndrome | ClinVar | PMID:14719537 more ... | Multiple Pterygium Syndrome, Lethal Type | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Lethal multiple pterygium syndrome | ClinVar | PMID:25741868, PMID:28492532 | Multiple Pterygium Syndrome, Lethal Type | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Lethal multiple pterygium syndrome | ClinVar | PMID:28492532 more ... | Pleural Effusion | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Pleural effusion | ClinVar | PMID:25741868 more ... | visual epilepsy | | ISO | RGD:732599 | 8554872 | ClinVar Annotator: match by term: Seizures | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
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
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References
References - curated
| 1. | Albuquerque EX, etal., Physiol Rev. 2009 Jan;89(1):73-120. doi: 10.1152/physrev.00015.2008. |
| 2. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 3. | GOA data from the GO Consortium |
| 4. | Im SH, etal., J Clin Invest 1999 Dec;104(12):1723-30. |
| 5. | MGD data from the GO Consortium |
| 6. | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 7. | OMIM Disease Annotation Pipeline |
| 8. | Rasoulpour RJ, etal., Toxicol Sci. 2012 Jun;127(2):522-34. doi: 10.1093/toxsci/kfs118. Epub 2012 Mar 29. |
| 9. | RGD automated data pipeline |
| 10. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 11. | RGD automated import pipeline for gene-chemical interactions |
| 12. | Witzemann V, etal., Eur J Biochem 1990 Dec 12;194(2):437-48. |
| 13. | Witzemann V, etal., Mech Dev. 2013 Jun-Aug;130(6-8):402-11. doi: 10.1016/j.mod.2012.09.004. Epub 2012 Sep 29. |
Additional References at PubMed
| PMID:2383398 | PMID:4781450 | PMID:8872460 | PMID:8910344 | PMID:9221765 | PMID:9546329 | PMID:12388596 | PMID:12928480 | PMID:16203963 | PMID:18252226 | PMID:20053883 | PMID:21187406 |
Genomics
