Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Hyperphosphatemic Familial Tumoral Calcinosis 1 | | ISO | RGD:1313452 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 | ClinVar | PMID:25378588, PMID:29389098 | intellectual disability | | ISO | RGD:1313452 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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 Pathway Annotations Click to see Annotation Detail View
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References
References - curated
| 1. | Black JC, etal., Mol Cell. 2012 Nov 30;48(4):491-507. doi: 10.1016/j.molcel.2012.11.006. |
| 2. | Chai W, etal., PLoS One. 2013 Sep 19;8(9):e74794. doi: 10.1371/journal.pone.0074794. eCollection 2013. |
| 3. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 4. | GOA data from the GO Consortium |
| 5. | Jiping Z, etal., J Cell Biochem. 2013 Dec;114(12):2666-72. doi: 10.1002/jcb.24613. |
| 6. | MGD data from the GO Consortium |
| 7. | Nishio H, etal., J Urol. 2014 May;191(5 Suppl):1564-72. doi: 10.1016/j.juro.2013.10.071. Epub 2014 Mar 26. |
| 8. | Paolicchi E, etal., Crit Rev Oncol Hematol. 2013 May;86(2):97-103. doi: 10.1016/j.critrevonc.2012.11.008. Epub 2012 Dec 23. |
| 9. | Qi L, etal., PLoS One. 2014 Aug 27;9(8):e106032. doi: 10.1371/journal.pone.0106032. eCollection 2014. |
| 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. | Vieira FQ, etal., Endocr Relat Cancer. 2013 Dec 16;21(1):51-61. doi: 10.1530/ERC-13-0375. Print 2014 Feb. |
| 14. | Zhao M, etal., Br J Dermatol. 2012 Feb;166(2):226-73. doi: 10.1111/j.1365-2133.2011.10646.x. Epub 2012 Jan 9. |
Additional References at PubMed
| PMID:11358960 | PMID:11445587 | PMID:12477932 | PMID:15632090 | PMID:15640446 | PMID:18270511 | PMID:18483221 | PMID:19430464 | PMID:20064375 | PMID:21960634 | PMID:27499454 | PMID:29212818 |
Genomics
