Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive osteopetrosis 7 | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 | ClinVar | PMID:25741868 | autosomal recessive osteopetrosis 7 | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 | ClinVar | | autosomal recessive osteopetrosis 7 | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 | ClinVar | PMID:28492532 | autosomal recessive osteopetrosis 7 | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Osteopetrosis autosomal recessive 7 | ClinVar | PMID:15231021, PMID:18606301 | autosomal recessive osteopetrosis 7 | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by OMIM:612301 | ClinVar | PMID:18606301, PMID:19940926 | autosomal recessive osteopetrosis 7 | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by OMIM:612301 | ClinVar | PMID:18606301 | chromosome 18q deletion syndrome | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME | ClinVar | PMID:25741868 | familial expansile osteolysis | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Familial expansile osteolysis | ClinVar | PMID:25741868 | familial expansile osteolysis | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Familial expansile osteolysis | ClinVar | PMID:12568416 more ... | familial expansile osteolysis | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by OMIM:174810 | ClinVar | PMID:10615125 more ... | multiple congenital anomalies-hypotonia-seizures syndrome 1 | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 1 | ClinVar | PMID:28492532 | osteopetrosis | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Osteopetrosis | ClinVar | | osteopetrosis | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Osteopetrosis | ClinVar | PMID:28492532 | osteopetrosis | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Osteopetrosis | ClinVar | PMID:24033266, PMID:28492532 | osteopetrosis | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Osteopetrosis | ClinVar | PMID:24033266 more ... | osteopetrosis | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Osteopetrosis | ClinVar | PMID:24033266 | osteopetrosis | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Osteopetrosis | ClinVar | PMID:25741868 | Paget Disease of Bone 2, Early-Onset | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Paget disease of bone 2, early-onset | ClinVar | PMID:10615125 more ... | Paget Disease of Bone 2, Early-Onset | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Paget disease of bone 2, early-onset | ClinVar | PMID:28492532 | Paget Disease of Bone 2, Early-Onset | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Paget disease of bone 2, early-onset | ClinVar | | Paget Disease of Bone 2, Early-Onset | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Paget disease of bone 2, early-onset | ClinVar | PMID:11771666, PMID:25063546 | Paget Disease of Bone 2, Early-Onset | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Paget disease of bone 2, early-onset | ClinVar | PMID:12568416 more ... | Paget Disease of Bone 2, Early-Onset | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Paget disease of bone 2, early-onset | ClinVar | PMID:25741868 | Paget's disease of bone | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Paget disease of bone | ClinVar | PMID:28492532 | Paget's disease of bone | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Paget disease of bone | ClinVar | PMID:24033266, PMID:28492532 | Paget's disease of bone | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Paget disease of bone | ClinVar | PMID:24033266 | Paget's disease of bone | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Paget disease of bone | ClinVar | PMID:24033266 more ... | Paget's disease of bone | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Paget disease of bone | ClinVar | PMID:25741868 | Paget's disease of bone | | ISO | RGD:1321639 | 8554872 | ClinVar Annotator: match by term: Paget disease of bone | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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 Function
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References
References - curated
| 1. | Chen G, etal., Cancer. 2006 Jul 15;107(2):289-98. |
| 2. | de Amorim FP, etal., J Mol Histol. 2008 Aug;39(4):401-8. Epub 2008 Jul 1. |
| 3. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 4. | Hughes AE, etal., Nat Genet. 2000 Jan;24(1):45-8. |
| 5. | Lerebours F, etal., BMC Cancer. 2008 Feb 4;8:41. |
| 6. | Liu W, etal., Exp Mol Pathol. 2008 Jun;84(3):213-7. Epub 2008 Mar 7. |
| 7. | OMIM Disease Annotation Pipeline |
| 8. | Pipeline to import KEGG annotations from KEGG into RGD |
| 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. | RGD comprehensive gene curation |
| 13. | Siddiqui IA, etal., Pharm Res. 2008 Mar 4;. |
Additional References at PubMed
| PMID:9367155 | PMID:10500098 | PMID:11051546 | PMID:11805147 | PMID:12296995 | PMID:18606301 | PMID:19325147 | PMID:19940926 | PMID:20074454 | PMID:20818503 | PMID:21327437 | PMID:21844205 |
| PMID:21893222 | PMID:22848465 | PMID:23443487 | PMID:25406873 | PMID:29211121 | PMID:29297549 | PMID:29529595 |
Genomics
