Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: B-cell expansion with NFKB and T-cell anergy | ClinVar | PMID:25741868, PMID:28492532 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: B-cell expansion with NFKB and T-cell anergy | ClinVar | PMID:25741868 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: B-cell expansion with NFKB and T-cell anergy | ClinVar | | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: B-cell expansion with NFKB and T-cell anergy | ClinVar | PMID:18323416 more ... | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: B-cell expansion with NFKB and T-cell anergy | ClinVar | PMID:23129749, PMID:25352053 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: B-cell expansion with NFKB and T-cell anergy | ClinVar | PMID:25930198 | B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: B-cell expansion with NFKB and T-cell anergy | ClinVar | PMID:23129749 | immunodeficiency 11A | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 11 | ClinVar | | immunodeficiency 11A | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 11 | ClinVar | PMID:24728327 more ... | immunodeficiency 11A | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 11 | ClinVar | PMID:25741868 | immunodeficiency 11A | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 11 | ClinVar | PMID:18323416 more ... | immunodeficiency 11A | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 11 | ClinVar | PMID:23374270 | immunodeficiency 11A | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 11 | ClinVar | PMID:23561803 | immunodeficiency 11A | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 11 | ClinVar | PMID:24728327 more ... | immunodeficiency 11A | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 11 | ClinVar | PMID:25741868, PMID:28492532 | immunodeficiency 11A | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 11 | ClinVar | PMID:25741868 more ... | immunodeficiency 11A | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 11 | ClinVar | PMID:28492532, PMID:30170123 | immunodeficiency 11A | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 11 | ClinVar | PMID:24728327, PMID:28492532 | immunodeficiency 11A | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 11 | ClinVar | PMID:28492532 | immunodeficiency 11B | | ISO | RGD:1319685 | 8554872 | ClinVar Annotator: match by term: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS | ClinVar | PMID:28628108 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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
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Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
Imported Annotations - KEGG (archival)
Disease Annotations
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Biological Process
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References
References - curated
| 1. | Lenz G, etal., Science. 2008 Mar 21;319(5870):1676-9. doi: 10.1126/science.1153629. Epub 2008 Mar 6. |
| 2. | Ma Y, etal., Eur J Med Res. 2014 Nov 11;19:62. doi: 10.1186/s40001-014-0062-8. |
| 3. | Medoff BD, etal., J Immunol. 2006 Jun 15;176(12):7272-7. |
| 4. | OMIM Disease Annotation Pipeline |
| 5. | Pipeline to import KEGG annotations from KEGG into RGD |
| 6. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 7. | RGD automated import pipeline for gene-chemical interactions |
| 8. | RGD comprehensive gene curation |
| 9. | Snow AL, etal., J Exp Med. 2012 Nov 19;209(12):2247-61. doi: 10.1084/jem.20120831. Epub 2012 Nov 5. |
Additional References at PubMed
| PMID:11278692 | PMID:12154360 | PMID:12356734 | PMID:12818158 | PMID:12867038 | PMID:17287217 | PMID:18570454 | PMID:23793062 | PMID:28628108 |
Genomics
