Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Down syndrome | | ISO | MTRR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Down syndrome and susceptibility to | ClinVar | PMID:10444342 more ... | Folate-Sensitive Neural Tube Defects | | ISO | MTRR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10444342 more ... | gastrointestinal stromal tumor | | ISO | MTRR (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10444342 more ... | genetic disease | | ISO | MTRR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10484769 more ... | homocystinuria | | ISO | MTRR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria | ClinVar | PMID:10484769 more ... | homocystinuria-megaloblastic anemia cblE type | | ISO | MTRR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE | ClinVar | PMID:10444342 more ... | inherited metabolic disorder | | ISO | MTRR (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism | ClinVar | PMID:10444342 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder. | Aneiros-Guerrero A, etal., BMC Med Genet. 2011 May 26;12:75. |
| 2. | Functional polymorphisms in folate metabolism genes influence the risk of meningioma and glioma. | Bethke L, etal., Cancer Epidemiol Biomarkers Prev. 2008 May;17(5):1195-202. |
| 3. | Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects. | Blom HJ and Smulders Y, J Inherit Metab Dis. 2011 Feb;34(1):75-81. doi: 10.1007/s10545-010-9177-4. Epub 2010 Sep 4. |
| 4. | Functional variant in methionine synthase reductase intron-1 is associated with pleiotropic congenital malformations. | Cheng H, etal., Mol Cell Biochem. 2015 Sep;407(1-2):51-6. doi: 10.1007/s11010-015-2453-8. Epub 2015 Jun 5. |
| 5. | Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. | Doolin MT, etal., Am J Hum Genet 2002 Nov;71(5):1222-6. Epub 2002 Oct 09. |
| 6. | Association of MTHFR, MTR, and MTRR polymorphisms with Parkinson's disease among ethnic Chinese in Taiwan. | Fong CS, etal., Clin Chim Acta. 2011 Jan 30;412(3-4):332-8. Epub 2010 Nov 8. |
| 7. | Folate metabolic gene polymorphisms and childhood acute lymphoblastic leukemia: a case-control study. | Gast A, etal., Leukemia. 2007 Feb;21(2):320-5. Epub 2006 Nov 30. |
| 8. | Common gene polymorphisms in the metabolic folate and methylation pathway and the risk of acute lymphoblastic leukemia and non-Hodgkin's lymphoma in adults. | Gemmati D, etal., Cancer Epidemiol Biomarkers Prev. 2004 May;13(5):787-94. |
| 9. | Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm. | Giusti B, etal., J Med Genet. 2008 Nov;45(11):721-30. doi: 10.1136/jmg.2008.057851. Epub 2008 Jul 17. |
| 10. | Hyperhomocysteinemia and Related Genetic Polymorphisms Correlate with Ulcerative Colitis in Southeast China. | Jiang Y, etal., Cell Biochem Biophys. 2011 Sep 24. |
| 11. | Association between polymorphisms of folate-metabolizing enzymes and hematological malignancies. | Kim HN, etal., Leuk Res. 2009 Jan;33(1):82-7. doi: 10.1016/j.leukres.2008.07.026. Epub 2008 Sep 6. |
| 12. | Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) gene polymorphisms as risk factors for hepatocellular carcinoma in a Korean population. | Kwak SY, etal., Anticancer Res. 2008 Sep-Oct;28(5A):2807-11. |
| 13. | Roles of genetic polymorphisms in the folate pathway in childhood acute lymphoblastic leukemia evaluated by Bayesian relevance and effect size analysis. | Lautner-Csorba O, etal., PLoS One. 2013 Aug 5;8(8):e69843. doi: 10.1371/journal.pone.0069843. Print 2013. |
| 14. | Polymorphisms of methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), and thymidylate synthase (TYMS) in multiple myeloma risk. | Lima CS, etal., Leuk Res. 2008 Mar;32(3):401-5. Epub 2007 Jul 25. |
| 15. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 16. | Genetic polymorphisms predisposing to hyperhomocysteinemia in cardiac transplant patients. | Miriuka SG, etal., Transpl Int. 2005 Jan;18(1):29-35. |
| 17. | His595Tyr polymorphism in the methionine synthase reductase (MTRR) gene is associated with pancreatic cancer risk. | Ohnami S, etal., Gastroenterology. 2008 Aug;135(2):477-88. Epub 2008 Apr 18. |
| 18. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 19. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 20. | Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida. | Pietrzyk JJ, etal., J Appl Genet. 2003;44(1):111-3. |
| 21. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
| 22. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 23. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 24. | Alcohol drinking and one-carbon metabolism-related gene polymorphisms on pancreatic cancer risk. | Suzuki T, etal., Cancer Epidemiol Biomarkers Prev. 2008 Oct;17(10):2742-7. |
| 25. | Update and new concepts in vitamin responsive disorders of folate transport and metabolism. | Watkins D and Rosenblatt DS, J Inherit Metab Dis. 2012 Jul;35(4):665-70. doi: 10.1007/s10545-011-9418-1. Epub 2011 Nov 23. |
| 26. | Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. | Watkins D, etal., Am J Hum Genet. 2002 Jul;71(1):143-53. Epub 2002 May 30. |
| 27. | Methylenetetrahydrofolate reductase and methionine synthase reductase gene polymorphisms and protection from microvascular complications in adolescents with type 1 diabetes. | Wiltshire EJ, etal., Pediatr Diabetes. 2008 Aug;9(4 Pt 2):348-53. |
| 28. | cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. | Zavadakova P, etal., Hum Mutat. 2005 Mar;25(3):239-47. |
| 29. | Functional variant in methionine synthase reductase intron-1 significantly increases the risk of congenital heart disease in the Han Chinese population. | Zhao JY, etal., Circulation. 2012 Jan 24;125(3):482-90. doi: 10.1161/CIRCULATIONAHA.111.050245. Epub 2011 Dec 16. |
Additional References at PubMed
| PMID:9501215 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:12477932 | PMID:12520002 | PMID:14610273 | PMID:15329828 | PMID:16141072 | PMID:16141073 | PMID:17369066 |
| PMID:18221906 | PMID:18413293 | PMID:18799693 | PMID:19158324 | PMID:19521500 | PMID:21677750 | PMID:21873635 | PMID:24074862 | PMID:24800750 | PMID:26039453 | PMID:26166573 | PMID:29492317 |
| PMID:30024025 | PMID:31537252 | PMID:32257815 | PMID:32968282 | PMID:34140513 | PMID:34326545 | PMID:34702858 | PMID:34957089 |
Genomics
Comparative Map Data
| Mtrr (Mus musculus - house mouse) |
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| MTRR (Homo sapiens - human) |
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| Mtrr (Rattus norvegicus - Norway rat) |
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| Mtrr (Chinchilla lanigera - long-tailed chinchilla) |
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| MTRR (Pan paniscus - bonobo/pygmy chimpanzee) |
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| MTRR (Canis lupus familiaris - dog) |
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| Mtrr (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| MTRR (Sus scrofa - pig) |
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| MTRR (Chlorocebus sabaeus - green monkey) |
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| Mtrr (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Mtrr
827 total Variants 
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