Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cystic fibrosis | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cystic fibrosis | ClinVar | PMID:10071515 more ... | Familial Thoracic Aortic Aneurysm 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Aortic aneurysm and familial thoracic 8 | ClinVar | PMID:28492532 | Mannose-Binding Protein Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mannose-binding lectin deficiency | ClinVar | PMID:16885193 | Mannose-Binding Protein Deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Mannose-binding lectin deficiency | ClinVar | | Mannose-Binding Protein Deficiency | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Mannose-binding lectin deficiency | ClinVar | PMID:25741868 | Mannose-Binding Protein Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mannose-binding lectin deficiency | ClinVar | PMID:10888598 more ... | Mannose-Binding Protein Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mannose-binding lectin deficiency | ClinVar | PMID:10071515 more ... | Mannose-Binding Protein Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mannose-binding lectin deficiency | ClinVar | PMID:1304173 more ... | Mannose-Binding Protein Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mannose-binding lectin deficiency | ClinVar | PMID:15829288 and PMID:28492532 | Mannose-Binding Protein Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mannose-binding lectin deficiency | ClinVar | PMID:22363494 more ... | Mannose-Binding Protein Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mannose-binding lectin deficiency | ClinVar | PMID:28492532 and PMID:29210071 | Mannose-Binding Protein Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mannose-binding lectin deficiency | ClinVar | PMID:24033266 | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | MBL2 gene polymorphisms protect against development of thrombocytopenia associated with severe dengue phenotype. | Acioli-Santos B, etal., Hum Immunol. 2008 Feb;69(2):122-8. doi: 10.1016/j.humimm.2008.01.005. Epub 2008 Feb 12. |
| 2. | Relation among mannose-binding lectin 2 genotype, beta-cell autoantibodies, and risk for type 1 diabetes in Finnish children. | Aittoniemi J, etal., Hum Immunol. 2008 Feb;69(2):108-11. doi: 10.1016/j.humimm.2008.01.007. Epub 2008 Feb 20. |
| 3. | Genotypes of the mannan-binding lectin gene and susceptibility to visceral leishmaniasis and clinical complications. | Alonso DP, etal., J Infect Dis. 2007 Apr 15;195(8):1212-7. Epub 2007 Mar 5. |
| 4. | Mannan-binding lectin MBL2 gene polymorphism in chronic hepatitis C: association with the severity of liver fibrosis and response to interferon therapy. | Alves Pedroso ML, etal., Clin Exp Immunol. 2008 May;152(2):258-64. doi: 10.1111/j.1365-2249.2008.03614.x. Epub 2008 Mar 10. |
| 5. | Mannose-binding lectin serum levels are low in persons with clinically active coccidioidomycosis. | Ampel NM, etal., Mycopathologia. 2009 Apr;167(4):173-80. Epub 2008 Dec 14. |
| 6. | Polymorphisms in immunoregulatory genes and the risk of histologic chorioamnionitis in Caucasoid women: a case control study. | Annells MF, etal., BMC Pregnancy Childbirth. 2005 Feb 21;5(1):4. |
| 7. | Mannan-binding lectin deficiency in pediatric patients with inflammatory bowel disease. | Bak-Romaniszyn L, etal., Scand J Gastroenterol. 2011 Oct;46(10):1275-8. doi: 10.3109/00365521.2011.594087. Epub 2011 Jun 27. |
| 8. | The polymorphisms of the MBL2 and MIF genes associated with Pediatric Cochlear Implant Patients. | Baysal E, etal., Int J Pediatr Otorhinolaryngol. 2013 Mar;77(3):338-40. doi: 10.1016/j.ijporl.2012.11.020. Epub 2012 Dec 14. |
| 9. | Polymorphisms in the mannose-binding lectin gene as determinants of age-defined risk of coronary artery lesions in Kawasaki disease. | Biezeveld MH, etal., Arthritis Rheum. 2006 Jan;54(1):369-76. |
| 10. | Association of the wild-type A/A genotype of MBL2 codon 54 with asthma in a North Indian population. | Birbian N, etal., Dis Markers. 2012;32(5):301-8. doi: 10.3233/DMA-2012-0892. |
| 11. | Epidemiology of chronic wound patients and relation to serum levels of mannan-binding lectin. | Bitsch M, etal., Acta Derm Venereol. 2009 Nov;89(6):607-11. doi: 10.2340/00015555-0730. |
| 12. | Association between bronchopulmonary dysplasia and MBL2 and IL1-RN polymorphisms. | Cakmak BC, etal., Pediatr Int. 2012 Dec;54(6):863-8. doi: 10.1111/j.1442-200X.2012.03714.x. Epub 2012 Nov 21. |
| 13. | Role played by human mannose-binding lectin polymorphisms in pulmonary tuberculosis. | Capparelli R, etal., J Infect Dis. 2009 Mar 1;199(5):666-72. |
| 14. | Prevalence of atopic symptoms among blood donor carriers of mannose-binding lectin variant alleles. | Cardinale F, etal., Int J Immunopathol Pharmacol. 2008 Jul-Sep;21(3):735-8. |
| 15. | Deficient serum mannose-binding lectin levels and MBL2 polymorphisms increase the risk of single and recurrent Cryptosporidium infections in young children. | Carmolli M, etal., J Infect Dis. 2009 Nov 15;200(10):1540-7. doi: 10.1086/606013. |
| 16. | High polymorphism of the MBL2 gene in patients with atopic dermatitis. | Carrera MC, etal., Ann Allergy Asthma Immunol. 2010 Jul;105(1):39-42. doi: 10.1016/j.anai.2010.03.017. |
| 17. | L-ficolin (ficolin-2) insufficiency is associated with combined allergic and infectious respiratory disease in children. | Cedzynski M, etal., Mol Immunol. 2009 Dec;47(2-3):415-9. Epub 2009 Sep 19. |
| 18. | Influence of mannose-binding lectin gene polymorphisms on the invasiveness of cytomegalovirus disease after solid organ transplantation. | Cervera C, etal., Transplant Proc. 2009 Jul-Aug;41(6):2259-61. |
| 19. | Mannose-binding lectin polymorphisms and recurrent respiratory tract infection in Chinese children. | Chen J, etal., Eur J Pediatr. 2009 Nov;168(11):1305-13. Epub 2009 Jan 24. |
| 20. | Modulating effects of mannose binding lectin genotype on arterial stiffness in children after Kawasaki disease. | Cheung YF, etal., Pediatr Res. 2004 Oct;56(4):591-6. Epub 2004 Aug 4. |
| 21. | Mannose-binding lectin in chronic hepatitis B virus infection. | Chong WP, etal., Hepatology. 2005 Nov;42(5):1037-45. doi: 10.1002/hep.20891. |
| 22. | Mannose-binding lectin-2 genotypes and recurrent late pregnancy losses. | Christiansen OB, etal., Hum Reprod. 2009 Feb;24(2):291-9. doi: 10.1093/humrep/den377. Epub 2008 Oct 16. |
| 23. | Resistance of MBL gene-knockout mice to experimental systemic aspergillosis. | Clemons KV, etal., Immunol Lett. 2010 Feb 16;128(2):105-7. doi: 10.1016/j.imlet.2009.12.021. Epub 2010 Jan 12. |
| 24. | Mannose-binding lectin gene polymorphisms as a susceptibility factor for chronic necrotizing pulmonary aspergillosis. | Crosdale DJ, etal., J Infect Dis. 2001 Sep 1;184(5):653-6. Epub 2001 Jul 24. |
| 25. | Increased serum complement component 3 and mannose-binding lectin levels in adult Chinese patients with chronic rhinosinusitis. | Cui YH, etal., Rhinology. 2009 Jun;47(2):187-91. |
| 26. | Mannan-binding lectin and ficolin deposition in skin lesions of pemphigus. | de Messias-Reason IJ, etal., Arch Dermatol Res. 2011 Sep;303(7):521-5. doi: 10.1007/s00403-011-1132-1. Epub 2011 Feb 16. |
| 27. | The mannose-binding lectin-pathway is involved in complement activation in the course of renal ischemia-reperfusion injury. | de Vries B, etal., Am J Pathol. 2004 Nov;165(5):1677-88. |
| 28. | Mannose-binding lectin deficiency is associated with early onset of polyarticular juvenile rheumatoid arthritis: a cohort study. | Dolman KM, etal., Arthritis Res Ther. 2008;10(2):R32. doi: 10.1186/ar2386. Epub 2008 Mar 11. |
| 29. | Serum levels and H/L gene polymorphism of mannose-binding lectin in primary open angle glaucoma. | Dursun O, etal., Curr Eye Res. 2012 Mar;37(3):212-7. doi: 10.3109/02713683.2011.639124. |
| 30. | Lack of genetic association of promoter and structural variants of mannan-binding lectin (MBL2) gene with susceptibility to generalized vitiligo. | Dwivedi M, etal., Br J Dermatol. 2009 Jul;161(1):63-9. doi: 10.1111/j.1365-2133.2009.09140.x. Epub 2009 Apr 16. |
| 31. | Mannose-binding lectin in chronic hepatitis C in children. | Dzwonek AB, etal., Scand J Gastroenterol. 2015;50(10):1276-84. doi: 10.3109/00365521.2015.1006673. Epub 2015 May 8. |
| 32. | Mannose-binding lectin genotypes in susceptibility to community-acquired pneumonia. | Endeman H, etal., Chest. 2008 Dec;134(6):1135-40. Epub 2008 Jul 18. |
| 33. | Association of mannose-binding lectin-2 gene polymorphism with the development of hepatitis C-induced hepatocellular carcinoma. | Eurich D, etal., Liver Int. 2011 Aug;31(7):1006-12. doi: 10.1111/j.1478-3231.2011.02522.x. Epub 2011 Apr 15. |
| 34. | Protection from inflammatory disease in insulin resistance: the role of mannan-binding lectin. | Fernandez-Real JM, etal., Diabetologia. 2006 Oct;49(10):2402-11. Epub 2006 Aug 29. |
| 35. | Mannose-binding lectin is present in the infected airway: a possible pulmonary defence mechanism. | Fidler KJ, etal., Thorax. 2009 Feb;64(2):150-5. Epub 2008 Nov 6. |
| 36. | Association of MBL2 gene exon 1 variants with autoimmune thyroid disease in Brazilian patients. | Filho CB, etal., Int J Immunogenet. 2012 Aug;39(4):357-61. doi: 10.1111/j.1744-313X.2012.01102.x. Epub 2012 Feb 23. |
| 37. | Bipolar and panic disorders may be associated with hereditary defects in the innate immune system. | Foldager L, etal., J Affect Disord. 2014 Aug;164:148-54. doi: 10.1016/j.jad.2014.04.017. Epub 2014 Apr 19. |
| 38. | Association of mannose-binding lectin gene polymorphisms with antiphospholipid syndrome, cardiovascular disease and chronic damage in patients with systemic lupus erythematosus. | Font J, etal., Rheumatology (Oxford). 2007 Jan;46(1):76-80. Epub 2006 Jun 26. |
| 39. | Mannan-binding lectin modulates the response to HSV-2 infection. | Gadjeva M, etal., Clin Exp Immunol. 2004 Nov;138(2):304-11. |
| 40. | Mannose-binding lectin and mannose-binding lectin-associated serine protease 2 in susceptibility, severity, and outcome of pneumonia in adults. | Garcia-Laorden MI, etal., J Allergy Clin Immunol. 2008 Aug;122(2):368-74, 374.e1-2. Epub 2008 Jun 25. |
| 41. | Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. | Garred P, etal., J Clin Invest. 1999 Aug;104(4):431-7. |
| 42. | Complement defects in patients with chronic rhinosinusitis. | Gaunsbaek MQ, etal., PLoS One. 2012;7(11):e47383. doi: 10.1371/journal.pone.0047383. Epub 2012 Nov 7. |
| 43. | Mannose-binding lectin gene polymorphism, vulvovaginal candidiasis, and bacterial vaginosis. | Giraldo PC, etal., Obstet Gynecol. 2007 May;109(5):1123-8. |
| 44. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 45. | Mannose-binding lectin gene polymorphism is a modulating factor in repeated respiratory infections. | Gomi K, etal., Chest. 2004 Jul;126(1):95-9. |
| 46. | Polymorphisms in the mannose binding lectin-2 gene and acute respiratory distress syndrome. | Gong MN, etal., Crit Care Med. 2007 Jan;35(1):48-56. |
| 47. | Development of pulmonary abnormalities in patients with common variable immunodeficiency: associations with clinical and immunologic factors. | Gregersen S, etal., Ann Allergy Asthma Immunol. 2010 Jun;104(6):503-10. |
| 48. | Genetic variants of mannose-binding lectin 2 gene influence progression and prognosis of patients with hepatitis B virus infection in China. | Gu X, etal., Clin Res Hepatol Gastroenterol. 2016 Nov;40(5):614-621. doi: 10.1016/j.clinre.2015.12.015. Epub 2016 Feb 5. |
| 49. | Association of hepatitis C virus infection and liver fibrosis severity with the variants alleles of MBL2 gene in a Brazilian population. | Halla MC, etal., Hum Immunol. 2010 Sep;71(9):883-7. doi: 10.1016/j.humimm.2010.05.021. Epub 2010 Jun 1. |
| 50. | A variant in the promoter of MBL2 is associated with protection against visceral leishmaniasis in Morocco. | Hamdi S, etal., Infect Genet Evol. 2013 Jan;13:162-7. doi: 10.1016/j.meegid.2012.09.002. Epub 2012 Sep 18. |
| 51. | Deficient mannose-binding lectin-mediated complement activation despite mannose-binding lectin-sufficient genotypes in an outbreak of Legionella pneumophila pneumonia. | Herpers BL, etal., Hum Immunol. 2009 Feb;70(2):125-9. doi: 10.1016/j.humimm.2008.11.002. Epub 2008 Dec 13. |
| 52. | Therapeutic role for mannose-binding lectin in cigarette smoke-induced lung inflammation? Evidence from a murine model. | Hodge S, etal., Am J Respir Cell Mol Biol. 2010 Feb;42(2):235-42. Epub 2009 May 1. |
| 53. | Mannose-binding lectin variant associated with severe malaria in young African children. | Holmberg V, etal., Microbes Infect. 2008 Apr;10(4):342-8. doi: 10.1016/j.micinf.2007.12.008. Epub 2007 Dec 28. |
| 54. | Association between mannose-binding lectin gene polymorphism and pediatric cytomegalovirus infection. | Hu Y, etal., Viral Immunol. 2010 Aug;23(4):443-7. |
| 55. | Serum mannose-binding lectin levels are decreased in behcet's disease and associated with disease severity. | Inanc N, etal., J Rheumatol. 2005 Feb;32(2):287-91. |
| 56. | Mannose-binding lectin in severe acute respiratory syndrome coronavirus infection. | Ip WK, etal., J Infect Dis. 2005 May 15;191(10):1697-704. Epub 2005 Apr 11. |
| 57. | Mannose-binding lectin variant alleles and HLA-DR4 alleles are associated with giant cell arteritis. | Jacobsen S, etal., J Rheumatol. 2002 Oct;29(10):2148-53. |
| 58. | Elevated levels of mannan-binding lectin (MBL) and eosinophilia in patients of bronchial asthma with allergic rhinitis and allergic bronchopulmonary aspergillosis associate with a novel intronic polymorphism in MBL. | Kaur S, etal., Clin Exp Immunol. 2006 Mar;143(3):414-9. |
| 59. | Protective role of mannan-binding lectin in a murine model of invasive pulmonary aspergillosis. | Kaur S, etal., Clin Exp Immunol. 2007 May;148(2):382-9. Epub 2007 Mar 5. |
| 60. | Association of MBL2 polymorphism with asthma after bronchiolitis in infancy. | Koponen P, etal., Pediatr Int. 2012 Oct;54(5):619-22. doi: 10.1111/j.1442-200X.2012.03651.x. Epub 2012 Jul 19. |
| 61. | Mannose-binding lectin MBL2 gene polymorphisms and outcome of hepatitis C virus-infected patients. | Koutsounaki E, etal., J Clin Immunol. 2008 Sep;28(5):495-500. doi: 10.1007/s10875-008-9201-8. Epub 2008 Jul 1. |
| 62. | Mannan-binding lectin in human serum, cerebrospinal fluid and brain tissue and its role in Alzheimer's disease. | Lanzrein AS, etal., Neuroreport. 1998 May 11;9(7):1491-5. |
| 63. | Infections during induction therapy of childhood acute lymphoblastic leukemia--no association to mannose-binding lectin deficiency. | Lausen B, etal., Eur J Haematol. 2006 Jun;76(6):481-7. Epub 2006 Feb 23. |
| 64. | Mannose-Binding Lectin Gene Polymorphism Contributes to Recurrence of Infective Exacerbation in COPD Patients. | Lin CL, etal., Chest. 2010 Aug 5. |
| 65. | Impact of mannose-binding lectin 2 polymorphism on the risk of hepatocellular carcinoma: a case-control study in Chinese Han population. | Lin Y, etal., J Epidemiol. 2015;25(5):387-91. doi: 10.2188/jea.JE20140194. Epub 2015 Mar 14. |
| 66. | Mannose-binding lectin gene polymorphic variants predispose to the development of bronchopulmonary complications but have no influence on other clinical and laboratory symptoms or signs of common variable immunodeficiency. | Litzman J, etal., Clin Exp Immunol. 2008 Sep;153(3):324-30. Epub 2008 Jul 11. |
| 67. | The Chinese herbal formula Zhibai Dihuang Granule treat Yin-deficiency-heat syndrome rats by regulating the immune responses. | Liu CM, etal., J Ethnopharmacol. 2018 Oct 28;225:271-278. doi: 10.1016/j.jep.2018.05.001. Epub 2018 May 2. |
| 68. | Genetically Determined MBL Deficiency Is Associated with Protection against Chronic Cardiomyopathy in Chagas Disease. | Luz PR, etal., PLoS Negl Trop Dis. 2016 Jan 8;10(1):e0004257. doi: 10.1371/journal.pntd.0004257. eCollection 2016 Jan. |
| 69. | Mannose-binding lectin null alleles are associated with preserved epithelial cell integrity following intestinal ischemia reperfusion in man. | Matthijsen RA, etal., Mol Immunol. 2009 Jul;46(11-12):2244-8. doi: 10.1016/j.molimm.2009.04.010. Epub 2009 May 23. |
| 70. | Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis. | McDougal KE, etal., Eur J Hum Genet. 2010 Jun;18(6):680-4. Epub 2010 Jan 13. |
| 71. | Structural polymorphism of the mannose-binding lectin 2 (MBL2 ) gene in HCV-infected patients with a serological marker for thyroid autoimmunity. | Melo FM, etal., Int J Immunogenet. 2009 Dec;36(6):377-81. doi: 10.1111/j.1744-313X.2009.00871.x. Epub 2009 Aug 24. |
| 72. | Association of variant alleles of MBL2 gene with vasoocclusive crisis in children with sickle cell anemia. | Mendonca TF, etal., Blood Cells Mol Dis. 2010 Apr 15;44(4):224-8. doi: 10.1016/j.bcmd.2010.02.004. Epub 2010 Feb 20. |
| 73. | High levels of serum mannose-binding lectin are associated with the severity of clinical signs of leptospirosis. | Miranda KA, etal., Braz J Med Biol Res. 2009 Apr;42(4):353-7. |
| 74. | Mannose-binding Lectin (MBL) as a susceptible host factor influencing Indian Visceral Leishmaniasis. | Mishra A, etal., Parasitol Int. 2015 Dec;64(6):591-6. doi: 10.1016/j.parint.2015.08.003. Epub 2015 Aug 19. |
| 75. | MBL2 polymorphism and risk of severe infections in multiple myeloma patients receiving high-dose melphalan and autologous stem cell transplantation. | Molle I, etal., Bone Marrow Transplant. 2006 Oct;38(8):555-60. Epub 2006 Sep 4. |
| 76. | Mannan-binding lectin recognizes structures on ischaemic reperfused mouse kidneys and is implicated in tissue injury. | Moller-Kristensen M, etal., Scand J Immunol. 2005 May;61(5):426-34. |
| 77. | Mannose-binding lectin gene variants and infections in patients receiving autologous stem cell transplantation. | Moreto A, etal., BMC Immunol. 2014 May 3;15:17. doi: 10.1186/1471-2172-15-17. |
| 78. | Association between mannan-binding lectin and impaired lung function in cystic fibrosis may be age-dependent. | Muhlebach MS, etal., Clin Exp Immunol. 2006 Aug;145(2):302-7. |
| 79. | Mannose binding lectin polymorphisms are associated with early age of disease onset and autoimmunity in common variable immunodeficiency. | Mullighan CG, etal., Scand J Immunol. 2000 Feb;51(2):111-22. |
| 80. | Association between donor MBL promoter haplotype and graft survival and the development of BOS after lung transplantation. | Munster JM, etal., Transplantation. 2008 Dec 27;86(12):1857-63. |
| 81. | Involvement of mannose-binding lectin in the pathogenesis of Kawasaki disease-like murine vasculitis. | Nakamura A, etal., Clin Immunol. 2014 Jul;153(1):64-72. doi: 10.1016/j.clim.2014.03.019. Epub 2014 Apr 8. |
| 82. | Inflammation gene variants and susceptibility to albuminuria in the U.S. population: analysis in the Third National Health and Nutrition Examination Survey (NHANES III), 1991-1994. | Ned RM, etal., BMC Med Genet. 2010 Nov 5;11:155. |
| 83. | Mannan-binding lectin deficiency increases the risk of recurrent infections in children with Down's syndrome. | Nisihara RM, etal., Hum Immunol. 2010 Jan;71(1):63-6. Epub . |
| 84. | Childhood exposure to secondhand smoke and functional mannose binding lectin polymorphisms are associated with increased lung cancer risk. | Olivo-Marston SE, etal., Cancer Epidemiol Biomarkers Prev. 2009 Dec;18(12):3375-83. |
| 85. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 86. | Might there be a link between mannose binding lectin and vitiligo? | Onay H, etal., Eur J Dermatol. 2007 Mar-Apr;17(2):146-8. Epub 2007 Mar 2. |
| 87. | Genotypes coding for mannose-binding lectin deficiency correlated with cryptococcal meningitis in HIV-uninfected Chinese patients. | Ou XT, etal., J Infect Dis. 2011 Jun 1;203(11):1686-91. doi: 10.1093/infdis/jir152. |
| 88. | Human mannose-binding lectin inhibitor prevents Shiga toxin-induced renal injury. | Ozaki M, etal., Kidney Int. 2016 Jul 1. pii: S0085-2538(16)30202-2. doi: 10.1016/j.kint.2016.05.011. |
| 89. | Mannose binding lectin and ficolin-2 polymorphisms are associated with increased risk for bacterial infections in children with B acute lymphoblastic leukemia. | Pana ZD, etal., Pediatr Blood Cancer. 2014 Jun;61(6):1017-22. doi: 10.1002/pbc.24951. Epub 2014 Jan 22. |
| 90. | Association of HYPA haplotype in the mannose-binding lectin gene-2 with Behcet's disease. | Park KS, etal., Tissue Antigens. 2005 Mar;65(3):260-5. |
| 91. | Human mannose-binding lectin inhibitor prevents myocardial injury and arterial thrombogenesis in a novel animal model. | Pavlov VI, etal., Am J Pathol. 2015 Feb;185(2):347-55. doi: 10.1016/j.ajpath.2014.10.015. Epub 2014 Dec 4. |
| 92. | Gene polymorphisms and febrile neutropenia in acute leukemia--no association with IL-4, CCR-5, IL-1RA, but the MBL-2, ACE, and TLR-4 are associated with the disease in Turkish patients: a preliminary study. | Pehlivan M, etal., Genet Test Mol Biomarkers. 2014 Jul;18(7):474-81. doi: 10.1089/gtmb.2014.0004. Epub 2014 May 12. |
| 93. | Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia. | Pifferi M, etal., Pediatr Pulmonol. 2015 Feb;50(2):179-86. doi: 10.1002/ppul.23026. Epub 2014 Apr 19. |
| 94. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 95. | Association of mannose-binding lectin gene polymorphism but not of mannose-binding serine protease 2 with chronic severe aortic regurgitation of rheumatic etiology. | Ramasawmy R, etal., Clin Vaccine Immunol. 2008 Jun;15(6):932-6. doi: 10.1128/CVI.00324-07. Epub 2008 Apr 9. |
| 96. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 97. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 98. | MBL genotype and risk of invasive pneumococcal disease: a case-control study. | Roy S, etal., Lancet. 2002 May 4;359(9317):1569-73. |
| 99. | High rate of early restenosis after carotid eversion endarterectomy in homozygous carriers of the normal mannose-binding lectin genotype. | Rugonfalvi-Kiss S, etal., Stroke. 2005 May;36(5):944-8. Epub 2005 Mar 24. |
| 100. | Mannose binding lectin gene (MBL2) functional polymorphisms are associated with systemic lupus erythematosus in southern Brazilians. | Sandrin-Garcia P, etal., Hum Immunol. 2011 Jun;72(6):516-21. Epub 2011 Apr 8. |
| 101. | Association of TNF, MBL, and VDR polymorphisms with leprosy phenotypes. | Sapkota BR, etal., Hum Immunol. 2010 Oct;71(10):992-8. doi: 10.1016/j.humimm.2010.07.001. Epub 2010 Aug 1. |
| 102. | MBL2 and MASP2 gene polymorphisms in patients with hepatocellular carcinoma. | Segat L, etal., J Viral Hepat. 2008 May;15(5):387-91. doi: 10.1111/j.1365-2893.2007.00965.x. |
| 103. | Mannose-binding lectin 2 gene polymorphism in recurrent herpes simplex virus 2 infection. | Seppanen M, etal., Hum Immunol. 2009 Apr;70(4):218-21. doi: 10.1016/j.humimm.2009.01.022. Epub 2009 Feb 4. |
| 104. | Functional mannose-binding lectin haplotype variants are associated with Alzheimer's disease. | Sjölander A, etal., J Alzheimers Dis. 2013;35(1):121-7. doi: 10.3233/JAD-122044. |
| 105. | Association between mannose-binding lectin deficiency and septic shock following acute pyelonephritis due to Escherichia coli. | Smithson A, etal., Clin Vaccine Immunol. 2007 Mar;14(3):256-61. Epub 2007 Jan 3. |
| 106. | MBL2 genotypes and their associations with MBL levels and NICU morbidity in a cohort of Greek neonates. | Speletas M, etal., J Immunol Res. 2015;2015:478412. doi: 10.1155/2015/478412. Epub 2015 Mar 24. |
| 107. | Association study between mannose-binding lectin haplotypes and X gene mutation of hepatitis B virus from treatment naïve patients. | Su C, etal., Aging (Albany NY). 2016 Nov 7;8(11):2862-2870. doi: 10.18632/aging.101097. |
| 108. | Association between mannose-binding lectin variants, haplotypes and risk of hepatocellular carcinoma: A case-control study. | Su C, etal., Sci Rep. 2016 Aug 25;6:32147. doi: 10.1038/srep32147. |
| 109. | Mannose-Binding Lectin (MBL) and MBL-associated serine protease-2 (MASP-2) in women with malignant and benign ovarian tumours. | Swierzko AS, etal., Cancer Immunol Immunother. 2014 Nov;63(11):1129-40. doi: 10.1007/s00262-014-1579-y. Epub 2014 Jul 20. |
| 110. | Association between mannose-binding lectin and HIV infection and progression in a Chinese population. | Tan Y, etal., Mol Immunol. 2009 Dec;47(2-3):632-8. doi: 10.1016/j.molimm.2009.08.020. Epub 2009 Sep 30. |
| 111. | MBL2 gene variants coding for mannose-binding lectin deficiency are associated with increased risk of nephritis in Danish patients with systemic lupus erythematosus. | Tanha N, etal., Lupus. 2014 Oct;23(11):1105-11. doi: 10.1177/0961203314536478. Epub 2014 May 21. |
| 112. | Genetic polymorphisms and serum levels of mannose-binding lectin in Chinese pediatric patients with common infectious diseases. | Tao R, etal., Int J Infect Dis. 2012 May;16(5):e403-7. doi: 10.1016/j.ijid.2012.01.014. Epub 2012 Mar 22. |
| 113. | An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study. | Tomaiuolo R, etal., Dig Liver Dis. 2009 Nov;41(11):817-22. Epub 2009 May 20. |
| 114. | Does MBL2 codon 54 polymorphism play a role in the pathogenesis of psoriasis? | Turan H, etal., Int J Dermatol. 2014 Jan;53(1):34-8. doi: 10.1111/j.1365-4632.2012.5657.x. Epub 2012 Nov 1. |
| 115. | Distinct alleles of mannose-binding lectin (MBL) and surfactant proteins A (SP-A) in patients with chronic cavitary pulmonary aspergillosis and allergic bronchopulmonary aspergillosis. | Vaid M, etal., Clin Chem Lab Med. 2007;45(2):183-6. |
| 116. | Effects of mannose-binding lectin polymorphisms on irinotecan-induced febrile neutropenia. | van der Bol JM, etal., Oncologist. 2010;15(10):1063-72. doi: 10.1634/theoncologist.2010-0033. Epub 2010 Oct 7. |
| 117. | Mannose binding lectin and FcgammaRIIa (CD32) polymorphism in Spanish systemic lupus erythematosus patients. | Villarreal J, etal., Rheumatology (Oxford). 2001 Sep;40(9):1009-12. |
| 118. | Mannose-binding lectin 2 rs11003123 polymorphism is associated with the development of hepatocellular carcinoma in patients with hepatitis B-related cirrhosis in the Chinese population. | Wang PS, etal., Hepatobiliary Pancreat Dis Int. 2016 Jun;15(3):282-8. |
| 119. | Mannose binding lectin (MBL) polymorphisms associated with low MBL production in patients with dermatomyositis. | Werth VP, etal., J Invest Dermatol. 2002 Dec;119(6):1394-9. |
| 120. | Functional polymorphisms in the mannan-binding lectin 2 gene: effect on MBL levels and otitis media. | Wiertsema SP, etal., J Allergy Clin Immunol. 2006 Jun;117(6):1344-50. Epub 2006 Apr 27. |
| 121. | Mannose binding lectin gene deficiency increases susceptibility to traumatic brain injury in mice. | Yager PH, etal., J Cereb Blood Flow Metab. 2008 May;28(5):1030-9. doi: 10.1038/sj.jcbfm.9600605. Epub 2008 Jan 9. |
| 122. | [Correlation between mannose-binding lectin gene codon 54 polymorphism and susceptibility of Kawasaki disease]. | Yang J, etal., Zhonghua Er Ke Za Zhi. 2004 Mar;42(3):176-9. |
| 123. | HIV-1 Disease Progression and Survival in an Adult Population in Zimbabwe: Is There an Effect of the Mannose Binding Lectin Deficiency? | Zinyama-Gutsire RB, etal., OMICS. 2015 Sep;19(9):542-52. doi: 10.1089/omi.2015.0047. |
Additional References at PubMed
| PMID:1303250 | PMID:1304173 | PMID:1458688 | PMID:1672848 | PMID:1675710 | PMID:2450948 | PMID:2477486 | PMID:2477488 | PMID:2590164 | PMID:7634089 | PMID:7707811 | PMID:7982896 |
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Genomics
Comparative Map Data
| MBL2 (Homo sapiens - human) |
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| Mbl2 (Mus musculus - house mouse) |
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| Mbl2 (Rattus norvegicus - Norway rat) |
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| Mbl2 (Chinchilla lanigera - long-tailed chinchilla) |
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| MBL2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| MBL1 (Canis lupus familiaris - dog) |
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| MBL2 (Sus scrofa - pig) |
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| MBL2 (Chlorocebus sabaeus - green monkey) |
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| Mbl2 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in MBL2
103 total Variants 
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