Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | breast ductal carcinoma | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Ductal breast carcinoma | ClinVar | | CADASIL | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | ClinVar | PMID:25741868 | CADASIL | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | ClinVar | PMID:15229130 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:11102981 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:12754354 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:11102981 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:21616505 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:22664156 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:24086431 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:15364702 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:15364702 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:26467025 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:10371548 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:17879447 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:11102981 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:11571335 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:10854111 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:15995828 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:25623805, PMID:26467025 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:26889213, PMID:28492532 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:24086431 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:11755616, PMID:19293235 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:22153900 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Recurrent subcortical infarcts | ClinVar | PMID:10227618 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:22006983 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:24936512, PMID:27770446 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:25623805 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:24139282, PMID:26002683 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:25834748 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:22006983 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:25741868 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:25741868, PMID:28492532 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:20038773 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:16864835 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:11559313 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:22153900 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:11706120 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:18765654 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:19006080 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:22159056 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:21616505 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:19006080 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:25741868, PMID:26467025 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:24086431 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:24086431 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:25741868 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:22006983 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:28492532 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:17879447 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:24086431, PMID:26467025 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:10371548 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:19542611, PMID:25741868 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:26467025, PMID:28492532 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:22153900 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:22006983 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:20301673, PMID:22664156 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:8878478, PMID:9388399 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:20301673 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:10854111 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:11102981 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:14714274 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:11102981 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:12136071 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:12196662 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:10712431 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:26467025 | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:11755616 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:16717210 more ... | CADASIL 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | ClinVar | PMID:10371548 more ... | cerebral infarction | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Ischemic stroke | ClinVar | PMID:20301673 more ... | cerebral infarction | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Ischemic stroke | ClinVar | PMID:32581362 | epilepsy | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Seizures | ClinVar | | genetic disease | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:19539236 more ... | genetic disease | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:26308724 more ... | Infantile Myofibromatosis 1 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Infantile myofibromatosis 1 | ClinVar | PMID:23731542 | Infantile Myofibromatosis 2 | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Infantile myofibromatosis 2 | ClinVar | PMID:23731542 | lateral meningocele syndrome | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Lehman syndrome | ClinVar | PMID:25741868 | lateral meningocele syndrome | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Lateral meningocele syndrome | ClinVar | PMID:21337686 more ... | lateral meningocele syndrome | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Lehman syndrome | ClinVar | PMID:23696373, PMID:25394726 | lateral meningocele syndrome | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Lehman syndrome | ClinVar | PMID:15666314, PMID:25394726 | lateral meningocele syndrome | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Lehman syndrome | ClinVar | PMID:25394726 | lateral meningocele syndrome | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Lehman syndrome | ClinVar | PMID:25394726, PMID:9188658 | lateral meningocele syndrome | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Lehman syndrome | ClinVar | PMID:26754023 | mental depression | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Depression | ClinVar | PMID:32581362 | migraine | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Migraine | ClinVar | PMID:25741868 | migraine with aura | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Migraine with aura | ClinVar | PMID:32581362 | migraine without aura | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Migraine without aura | ClinVar | PMID:12754354 more ... | Progressive Psychomotor Deterioration | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Progressive psychomotor deterioration | ClinVar | PMID:32581362 | prostate cancer | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Prostate cancer | ClinVar | PMID:23265383 | Stroke | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Stroke | ClinVar | PMID:26467025 more ... | Stroke | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Cerebrovascular accidents | ClinVar | PMID:32581362 | vascular dementia | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Vascular dementia | ClinVar | | vascular dementia | | ISO | RGD:732750 | 8554872 | ClinVar Annotator: match by term: Vascular dementia | ClinVar | PMID:26308724 more ... | visual epilepsy | | ISO | RGD:732750 | 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
Molecular Pathway Annotations Click to see Annotation Detail View
RGD Manual Annotations
Imported Annotations - KEGG (archival)
Imported Annotations - PID (archival)
Disease Annotations
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Molecular Pathway Annotations
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References
References - curated
| 1. | Donahue CP and Kosik KS, Genomics 2004 Jan;83(1):59-65. |
| 2. | Fiuza UM and Arias AM, J Endocrinol. 2007 Sep;194(3):459-74. |
| 3. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 4. | Lindner V, etal., Am J Pathol. 2001 Sep;159(3):875-83. doi: 10.1016/S0002-9440(10)61763-4. |
| 5. | MGD data from the GO Consortium |
| 6. | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 7. | Oh SY, etal., J Neurosci Res. 2005 Oct 1;82(1):32-42. |
| 8. | OMIM Disease Annotation Pipeline |
| 9. | Pipeline to import KEGG annotations from KEGG into RGD |
| 10. | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 11. | RGD automated data pipeline |
| 12. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 13. | RGD automated import pipeline for gene-chemical interactions |
| 14. | Sweeney C, etal., FASEB J. 2004 Sep;18(12):1421-3. Epub 2004 Jul 9. |
| 15. | Wang W, etal., J Biol Chem 2002 Jun 14;277(24):21723-9. |
| 16. | Wang W, etal., J Biol Chem 2002 Jun 28;277(26):23165-71. |
Additional References at PubMed
| PMID:11182080 | PMID:11438922 | PMID:15064243 | PMID:15350543 | PMID:15821257 | PMID:16120638 | PMID:17079689 | PMID:17573339 | PMID:17881497 | PMID:17939118 | PMID:19640841 | PMID:19855400 |
| PMID:21191019 | PMID:21330605 | PMID:22680933 | PMID:22806125 | PMID:23117660 | PMID:23382219 | PMID:23918872 | PMID:25468996 | PMID:26051713 | PMID:26317171 | PMID:27791012 | PMID:28759157 |
| PMID:28902129 | PMID:29754932 | PMID:30811836 | PMID:30954415 |
Genomics
