Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | complement component 7 deficiency | | ISO | RGD:1317399 | 8554872 | ClinVar Annotator: match by null | ClinVar | PMID:9218625 | complement component 7 deficiency | | ISO | RGD:1317399 | 8554872 | ClinVar Annotator: match by term: Complement component 7 deficiency | ClinVar | | complement component 7 deficiency | | ISO | RGD:1317399 | 8554872 | ClinVar Annotator: match by OMIM:610102 | ClinVar | PMID:8892662 | complement component 7 deficiency | | ISO | RGD:1317399 | 8554872 | ClinVar Annotator: match by null | ClinVar | PMID:15554930, PMID:16771861 | complement component 7 deficiency | | ISO | RGD:1317399 | 8554872 | ClinVar Annotator: match by null | ClinVar | PMID:15554930 | complement component 7 deficiency | | ISO | RGD:1317399 | 8554872 | ClinVar Annotator: match by OMIM:610102 | ClinVar | PMID:16771861 | complement component 7 deficiency | | ISO | RGD:1317399 | 8554872 | ClinVar Annotator: match by OMIM:610102 | ClinVar | PMID:16771861, PMID:8871666 | complement component 7 deficiency | | ISO | RGD:1317399 | 8554872 | ClinVar Annotator: match by OMIM:610102 | ClinVar | PMID:15554930, PMID:9218625 | complement component 7 deficiency | | ISO | RGD:1317399 | 8554872 | ClinVar Annotator: match by term: Complement component 7 deficiency | ClinVar | PMID:15831990, PMID:25741868 | Neurodevelopmental Disorders | | ISO | RGD:1317399 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
Imported Annotations - KEGG (archival)
Disease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Biological Process
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Molecular Pathway Annotations
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References
References - curated
| 1. | Adler S, etal., Kidney Int. 1984 Dec;26(6):830-7. |
| 2. | Nauta AJ, etal., Eur J Immunol 2002 Mar;32(3):783-92. |
| 3. | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 4. | Okamoto K, etal., J Surg Res. 2000 May 15;90(2):174-82. |
| 5. | OMIM Disease Annotation Pipeline |
| 6. | Pipeline to import KEGG annotations from KEGG into RGD |
| 7. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 8. | RGD automated import pipeline for gene-chemical interactions |
| 9. | RGD comprehensive gene curation |
| 10. | Soane L, etal., J Immunol. 2001 Aug 15;167(4):2305-11. |
| 11. | Sumitra M, etal., Mol Cell Biochem. 2005 Jan;268(1-2):149-58. |
| 12. | Xiong ZQ, etal., J Neurosci. 2003 Feb 1;23(3):955-60. |
Additional References at PubMed
| PMID:9688553 | PMID:18178252 | PMID:22832194 | PMID:23376485 | PMID:23533145 |
Genomics
