Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | vitamin D-dependent rickets | | IAGP | RGD:11646309 | 8554872 | ClinVar Annotator: match by term: Vitamin D-Dependent Rickets | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:8595447 | 8554872 | ClinVar Annotator: match by term: Vitamin D-dependent rickets type 1A | ClinVar | PMID:27287609 more ... | vitamin D-dependent rickets type 1A | | IAGP | RGD:151714236 | 8554872 | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar | PMID:25741868 | vitamin D-dependent rickets type 1A | | IAGP | RGD:11619150 | 8554872 | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar | PMID:28492532 | vitamin D-dependent rickets type 1A | | IAGP | RGD:151716742 | 8554872 | ClinVar Annotator: match by term: Vitamin D-dependent rickets type 1A | ClinVar | PMID:25741868 | vitamin D-dependent rickets type 1A | | IAGP | RGD:11624635 | 8554872 | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar | PMID:28492532 | vitamin D-dependent rickets type 1A | | IAGP | RGD:151714234 | 8554872 | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar | PMID:25741868 | vitamin D-dependent rickets type 1A | | IAGP | RGD:13528910 | 8554872 | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar | PMID:22588163 more ... | vitamin D-dependent rickets type 1A | | IAGP | RGD:11617984 | 8554872 | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar | PMID:28492532 | vitamin D-dependent rickets type 1A | | IAGP | RGD:11560014 | 8554872 | ClinVar Annotator: match by term: Vitamin D-dependent rickets type 1A | ClinVar | PMID:25741868, PMID:9837822 | vitamin D-dependent rickets type 1A | | IAGP | RGD:150430200 | 8554872 | ClinVar Annotator: match by term: Vitamin D-dependent rickets type 1A | ClinVar | PMID:25741868 | vitamin D-dependent rickets type 1A | | IAGP | RGD:150540356 | 8554872 | ClinVar Annotator: match by term: Vitamin D-dependent rickets type 1A | ClinVar | PMID:12050193 more ... | vitamin D-dependent rickets type 1A | | IAGP | RGD:151714230 | 8554872 | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar | PMID:25741868 | vitamin D-dependent rickets type 1A | | IAGP | RGD:8556376 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | PMID:10566658 | vitamin D-dependent rickets type 1A | | IAGP | RGD:11605328 | 8554872 | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar | PMID:28492532 | vitamin D-dependent rickets type 1A | | IAGP | RGD:8595444 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | PMID:10518789 more ... | vitamin D-dependent rickets type 1A | | IAGP | RGD:28910825 | 8554872 | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar | PMID:28492532 | vitamin D-dependent rickets type 1A | | IAGP | RGD:8556375 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | PMID:9837822 | vitamin D-dependent rickets type 1A | | IAGP | RGD:150536633 | 8554872 | ClinVar Annotator: match by term: Vitamin D-dependent rickets type 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:14693505 | 8554872 | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar | PMID:17488797 more ... | vitamin D-dependent rickets type 1A | | IAGP | RGD:8595450 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | PMID:9837822 | vitamin D-dependent rickets type 1A | | IAGP | RGD:8595456 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | PMID:12050193 more ... | vitamin D-dependent rickets type 1A | | IAGP | RGD:8595455 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | PMID:12050193 more ... | vitamin D-dependent rickets type 1A | | IAGP | RGD:8595445 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | PMID:9486994 | vitamin D-dependent rickets type 1A | | IAGP | RGD:13835616 | 8554872 | ClinVar Annotator: match by term: Vitamin D-dependent rickets type 1A | ClinVar | PMID:25741868, PMID:28492532 | vitamin D-dependent rickets type 1A | | IAGP | RGD:8595448 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | PMID:9415400 | vitamin D-dependent rickets type 1A | | IAGP | RGD:8595451 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | PMID:10566658 | vitamin D-dependent rickets type 1A | | IAGP | RGD:8595446 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | PMID:9486994 | vitamin D-dependent rickets type 1A | | IAGP | RGD:8556378 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | PMID:12050193 | vitamin D-dependent rickets type 1A | | IAGP | RGD:8595454 | 8554872 | ClinVar Annotator: match by term: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A | ClinVar | PMID:12050193 | vitamin D-dependent rickets type 1A | | IAGP | RGD:8595449 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | PMID:9415400 | vitamin D-dependent rickets type 1A | | IAGP | RGD:28867406 | 8554872 | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar | PMID:28492532 | vitamin D-dependent rickets type 1A | | IAGP | RGD:150540355 | 8554872 | ClinVar Annotator: match by term: Vitamin D-dependent rickets type 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:8595452 | 8554872 | ClinVar Annotator: match by term: Vitamin D-dependent rickets type 1A | ClinVar | PMID:12050193 more ... | vitamin D-dependent rickets type 1A | | IAGP | RGD:12850204 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:150540357 | 8554872 | ClinVar Annotator: match by term: Vitamin D-dependent rickets type 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:21072423 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:28868131 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:28873673 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:28873669 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:11653279 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:11623462 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:28873746 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:11659795 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:11652659 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:11624852 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:11621478 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | PMID:28492532 | vitamin D-dependent rickets type 1A | | IAGP | RGD:11661468 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:28867409 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:11609162 | 8554872 | ClinVar Annotator: match by term: PDDR IA | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:11621199 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:11647840 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:28873742 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:28867972 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:28873750 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:28910823 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:28910824 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:11658807 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:28873752 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:28867971 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:11658515 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:11613239 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:28868132 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:11650659 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | | vitamin D-dependent rickets type 1A | | IAGP | RGD:15163293 | 8554872 | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1A | ClinVar | PMID:28492532 | vitamin D-dependent rickets type 1A | | IAGP | RGD:126734581 | 8554872 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A | ClinVar | PMID:25741868, PMID:28492532 | vitamin D-dependent rickets type 1A | | IAGP | RGD:8595453 | 8554872 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A | ClinVar | PMID:11737215 more ... | vitamin D-dependent rickets type 1A | | IAGP | RGD:152982841 | 8554872 | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes. | Bailey R, etal., Diabetes. 2007 Oct;56(10):2616-21. Epub 2007 Jul 2. |
| 2. | Vitamin D Deficiency Increases Lipogenesis and Reduces Beta-Oxidation in the Liver of Diet-Induced Obese Mice. | Borges CC, etal., J Nutr Sci Vitaminol (Tokyo). 2018;64(2):106-115. doi: 10.3177/jnsv.64.106. |
| 3. | Metabolism of 25-hydroxyvitamin D in copper-laden rat: a model of Wilson's disease. | Carpenter TO, etal., Am J Physiol. 1988 Feb;254(2 Pt 1):E150-4. |
| 4. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 5. | Role of insulin in the stimulation of renal 25-hydroxyvitamin D3-1 alpha-hydroxylase by phosphorus deprivation in rats. | Ikeda K, etal., Metabolism. 1987 Jun;36(6):555-7. |
| 6. | Metabolic acidosis suppresses 25-hydroxyvitamin in D3-1alpha-hydroxylase in the rat kidney. Distinct site and mechanism of action. | Kawashima H, etal., J Clin Invest. 1982 Jul;70(1):135-40. |
| 7. | Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. | Kitanaka S, etal., N Engl J Med. 1998 Mar 5;338(10):653-61. |
| 8. | Vitamin D deficiency and a CYP27B1-1260 promoter polymorphism are associated with chronic hepatitis C and poor response to interferon-alfa based therapy. | Lange CM, etal., J Hepatol. 2011 May;54(5):887-93. doi: 10.1016/j.jhep.2010.08.036. Epub 2011 Jan 20. |
| 9. | The deficiency and the supplementation of vitamin D and liver: Lessons of chronic fructose-rich diet in mice. | Maia-Ceciliano TC, etal., J Steroid Biochem Mol Biol. 2019 Sep;192:105399. doi: 10.1016/j.jsbmb.2019.105399. Epub 2019 Jun 5. |
| 10. | Possible mechanism of impaired calcium and vitamin D metabolism in nephrotic rats. | Mizokuchi M, etal., Kidney Int. 1992 Aug;42(2):335-40. |
| 11. | Generation of novel genetically modified rats to reveal the molecular mechanisms of vitamin D actions. | Nishikawa M, etal., Sci Rep. 2020 Mar 30;10(1):5677. doi: 10.1038/s41598-020-62048-1. |
| 12. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 13. | Targeted ablation of the 25-hydroxyvitamin D 1alpha -hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction. | Panda DK, etal., Proc Natl Acad Sci U S A 2001 Jun 19;98(13):7498-503. |
| 14. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 15. | Gestational diabetes mellitus and vitamin D deficiency: genetic contribution of CYP27B1 and CYP2R1 polymorphisms. | Ramos-Lopez E, etal., Diabetes Obes Metab. 2008 Aug;10(8):683-5. Epub 2008 May 12. |
| 16. | CYP2R1-, CYP27B1- and CYP24-mRNA expression in German type 1 diabetes patients. | Ramos-Lopez E, etal., J Steroid Biochem Mol Biol. 2007 Mar;103(3-5):807-10. Epub 2007 Jan 16. |
| 17. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 18. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 19. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 20. | Effects of repeated administration of rifampicin and isoniazid on vitamin D metabolism in mice. | Sheng L, etal., Steroids. 2015 Dec;104:203-7. doi: 10.1016/j.steroids.2015.10.004. Epub 2015 Oct 22. |
| 21. | Single-nucleotide polymorphism at CYP27B1-1260, but not VDR Taq I, is possibly associated with persistent hepatitis B virus infection. | Zhu Q, etal., Genet Test Mol Biomarkers. 2012 Sep;16(9):1115-21. doi: 10.1089/gtmb.2012.0148. |
Additional References at PubMed
| PMID:1662663 | PMID:1690216 | PMID:1971995 | PMID:9282826 | PMID:9295274 | PMID:9333115 | PMID:9344864 | PMID:9415400 | PMID:9428799 | PMID:9837822 | PMID:10320521 | PMID:10359826 |
| PMID:10518789 | PMID:10566658 | PMID:11799066 | PMID:12039697 | PMID:12050193 | PMID:12050281 | PMID:12107095 | PMID:12137802 | PMID:12161526 | PMID:12386916 | PMID:12477932 | PMID:12496369 |
| PMID:12520522 | PMID:12746631 | PMID:12855575 | PMID:14671156 | PMID:15225751 | PMID:15243130 | PMID:15296474 | PMID:15331405 | PMID:15342556 | PMID:15583024 | PMID:15589699 | PMID:15795327 |
| PMID:15947108 | PMID:15951480 | PMID:15956353 | PMID:16061850 | PMID:16549446 | PMID:16720713 | PMID:17023519 | PMID:17079137 | PMID:17207990 | PMID:17207994 | PMID:17236759 | PMID:17254772 |
| PMID:17267208 | PMID:17287116 | PMID:17368179 | PMID:17395559 | PMID:17395703 | PMID:17426122 | PMID:17488797 | PMID:17878529 | PMID:17932346 | PMID:18495603 | PMID:18676680 | PMID:18689381 |
| PMID:18767073 | PMID:18767934 | PMID:18768522 | PMID:18843020 | PMID:19064572 | PMID:19154546 | PMID:19170196 | PMID:19219539 | PMID:19255064 | PMID:19343046 | PMID:19453261 | PMID:19454612 |
| PMID:19505920 | PMID:19524013 | PMID:19525955 | PMID:19625176 | PMID:19667158 | PMID:19706847 | PMID:19783860 | PMID:19852851 | PMID:19891555 | PMID:19913121 | PMID:19951419 | PMID:19966181 |
| PMID:19998245 | PMID:20007432 | PMID:20082271 | PMID:20152900 | PMID:20304056 | PMID:20453000 | PMID:20518841 | PMID:20534770 | PMID:20619365 | PMID:20628086 | PMID:20648053 | PMID:20654748 |
| PMID:20687218 | PMID:20701904 | PMID:20809279 | PMID:20831823 | PMID:20847308 | PMID:20877624 | PMID:21107545 | PMID:21440908 | PMID:21441443 | PMID:21542014 | PMID:21833088 | PMID:21869486 |
| PMID:21873635 | PMID:22190362 | PMID:22326730 | PMID:22443290 | PMID:22446158 | PMID:22511602 | PMID:22516854 | PMID:22547098 | PMID:22588163 | PMID:22612324 | PMID:22862690 | PMID:22995334 |
| PMID:23045480 | PMID:23063903 | PMID:23149444 | PMID:23286944 | PMID:23334593 | PMID:23423976 | PMID:23444327 | PMID:23483640 | PMID:23614044 | PMID:23886824 | PMID:23894780 | PMID:24029861 |
| PMID:24158849 | PMID:24245571 | PMID:24308945 | PMID:24371450 | PMID:24471562 | PMID:24535953 | PMID:24576880 | PMID:24643654 | PMID:25060765 | PMID:25284246 | PMID:25371233 | PMID:25488826 |
| PMID:25501638 | PMID:25542806 | PMID:25544771 | PMID:26124321 | PMID:26241700 | PMID:26291067 | PMID:26466946 | PMID:26575398 | PMID:26607259 | PMID:27016371 | PMID:27074284 | PMID:27175669 |
| PMID:27210415 | PMID:27287609 | PMID:27381199 | PMID:27399352 | PMID:27618536 | PMID:27904983 | PMID:27922682 | PMID:27977320 | PMID:28009432 | PMID:28033387 | PMID:28074193 | PMID:28594127 |
| PMID:28622535 | PMID:28665452 | PMID:28665937 | PMID:28926322 | PMID:29110708 | PMID:29175129 | PMID:29457277 | PMID:29502202 | PMID:29549592 | PMID:30172168 | PMID:30382318 | PMID:30578920 |
| PMID:30668811 | PMID:30875612 | PMID:30887870 | PMID:30993743 | PMID:31235702 | PMID:31398293 | PMID:31467173 | PMID:31520221 | PMID:31696245 | PMID:32001361 | PMID:32056782 | PMID:32127688 |
| PMID:32142934 | PMID:32183826 | PMID:32197412 | PMID:32260235 | PMID:32393512 | PMID:32844632 | PMID:32915988 | PMID:32926064 | PMID:32932410 | PMID:33058307 | PMID:33109593 | PMID:33259013 |
| PMID:33305962 | PMID:33594806 | PMID:33823104 | PMID:33961781 | PMID:33961971 | PMID:34226633 | PMID:34250710 | PMID:34977256 | PMID:35166042 |
Genomics
