Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | age related macular degeneration 14 | | ISO | RGD:1350557 | 8554872 | ClinVar Annotator: match by term: Age related macular degeneration 14 | ClinVar | PMID:16518403 more ... | atypical hemolytic-uremic syndrome | | ISO | RGD:1350557 | 8554872 | ClinVar more ... | ClinVar | PMID:1577763 more ... | atypical hemolytic-uremic syndrome | | ISO | RGD:1350557 | 8554872 | ClinVar more ... | ClinVar | PMID:16518403 more ... | atypical hemolytic-uremic syndrome | | ISO | RGD:1350557 | 8554872 | ClinVar more ... | ClinVar | PMID:15661753 more ... | atypical hemolytic-uremic syndrome | | ISO | RGD:1350557 | 8554872 | ClinVar more ... | ClinVar | PMID:15661753 more ... | complement component 2 deficiency | | ISO | RGD:1350557 | 8554872 | ClinVar more ... | ClinVar | PMID:16518403 more ... | Complement Factor B Deficiency | | ISO | RGD:1350557 | 8554872 | ClinVar more ... | ClinVar | PMID:16518403 more ... | focal segmental glomerulosclerosis | | ISO | RGD:1350557 | 8554872 | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar | PMID:16518403 more ... | focal segmental glomerulosclerosis 1 | | ISO | RGD:1350557 | 8554872 | ClinVar Annotator: match by term: Focal sclerosis with hyalinosis | ClinVar | PMID:16518403 more ... | genetic disease | | ISO | RGD:1350557 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | JMP syndrome | | ISO | RGD:1350557 | 8554872 | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1 | ClinVar | PMID:28492532 | kidney disease | | ISO | RGD:1350557 | 8554872 | ClinVar more ... | ClinVar | PMID:23847193 more ... | macular degeneration | | ISO | RGD:1350557 | 8554872 | ClinVar Annotator: match by term: Macular degeneration | ClinVar | PMID:1577763 more ... | neutropenia | | ISO | RGD:1350557 | 8554872 | ClinVar Annotator: match by term: Neutropenia | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Biosynthesis of complement components by cultured rat hepatocytes. | Anthony R, etal., Biochem J. 1985 Nov 15;232(1):93-8. |
| 2. | Complement haemolytic activity, circulating immune complexes and the morbidity of sickle cell anaemia. | Anyaegbu CC, etal., APMIS. 1999 Jul;107(7):699-702. |
| 3. | Complement proteins and C3 anaphylatoxin in the tears of patients with conjunctivitis. | Ballow M, etal., J Allergy Clin Immunol. 1985 Sep;76(3):473-6. |
| 4. | Complement abnormalities during an epidemic of group B meningococcal infection in children. | Beatty DW, etal., Clin Exp Immunol. 1986 Jun;64(3):465-70. |
| 5. | Alternative complement pathway and factor B activities in rats with altered blood levels of thyroid hormone. | Bitencourt CS, etal., Braz J Med Biol Res. 2012 Mar;45(3):216-21. Epub 2012 Mar 1. |
| 6. | Complement activation via alternative pathway is critical in the development of laser-induced choroidal neovascularization: role of factor B and factor H. | Bora NS, etal., J Immunol. 2006 Aug 1;177(3):1872-8. |
| 7. | Properdin factor B and acute lymphocytic leukemia (ALL). | Budowle B, etal., Cancer. 1982 Dec 1;50(11):2369-71. |
| 8. | Susceptibility to advanced age-related macular degeneration and alleles of complement factor H, complement factor B, complement component 2, complement component 3, and age-related maculopathy susceptibility 2 genes in a Mexican population. | Buentello-Volante B, etal., Mol Vis. 2012;18:2518-25. Epub 2012 Oct 11. |
| 9. | Inhibition of the alternative pathway of complement activation reduces inflammation in experimental autoimmune uveoretinitis. | Chen M, etal., Eur J Immunol. 2010 Oct;40(10):2870-81. doi: 10.1002/eji.201040323. |
| 10. | Complement Factor B Is a Determinant of Both Metabolic and Cardiovascular Features of Metabolic Syndrome. | Coan PM, etal., Hypertension. 2017 Jul 24. pii: HYPERTENSIONAHA.117.09242. doi: 10.1161/HYPERTENSIONAHA.117.09242. |
| 11. | Complement deposition and microglial activation in the outer retina in light-induced retinopathy: inhibition by a 5-HT1A agonist. | Collier RJ, etal., Invest Ophthalmol Vis Sci. 2011 Oct 11;52(11):8108-16. doi: 10.1167/iovs.10-6418. |
| 12. | Isolation and characterization of rat complement factor B and its interaction with cell-bound human C3. | Daha MR and van Es LA, Immunology. 1980 Dec;41(4):849-55. |
| 13. | Classical and alternative complement pathway activation in paracoccidioidomycosis. | de Messias IT and Mohren D, J Investig Allergol Clin Immunol. 1994 Mar-Apr;4(2):91-5. |
| 14. | HLA-linked complement polymorphisms (C2, BF) in psoriasis. | Dewald G, etal., Arch Dermatol Res. 1983;275(5):301-4. |
| 15. | Aberrant expression of acute-phase reactant proteins in sera and breast lesions of patients with malignant and benign breast tumors. | Doustjalali SR, etal., Electrophoresis. 2004 Jul;25(14):2392-401. |
| 16. | Analysis of major alleles associated with age-related macular degeneration in patients with multifocal choroiditis: strong association with complement factor H. | Ferrara DC, etal., Arch Ophthalmol. 2008 Nov;126(11):1562-6. doi: 10.1001/archopht.126.11.1562. |
| 17. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 18. | Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. | Goicoechea de Jorge E, etal., Proc Natl Acad Sci U S A. 2007 Jan 2;104(1):240-5. Epub 2006 Dec 20. |
| 19. | Proteomic analysis of the LPS-induced stress response in rat chondrocytes reveals induction of innate immune response components in articular cartilage. | Haglund L, etal., Matrix Biol. 2008 Mar;27(2):107-18. Epub 2007 Oct 10. |
| 20. | The complement system in Mediterranean spotted fever. | Herrero-Herrero JI, etal., J Infect Dis. 1988 May;157(5):1093-5. |
| 21. | The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration. | Kaur I, etal., Invest Ophthalmol Vis Sci. 2010 Jan;51(1):59-63. doi: 10.1167/iovs.09-4135. Epub 2009 Aug 20. |
| 22. | Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population. | Kim SJ, etal., Exp Eye Res. 2012 Mar;96(1):42-7. doi: 10.1016/j.exer.2012.01.005. Epub 2012 Jan 18. |
| 23. | Allotyping human complement factor B in Asian Indian type 1 diabetic patients. | Kumar N, etal., Tissue Antigens. 2008 Dec;72(6):517-24. Epub 2008 Sep 29. |
| 24. | Acute phase proteins, C9, factor B, and lysozyme in recurrent oral ulceration and Behcet's syndrome. | Lehner T and Adinolfi M, J Clin Pathol. 1980 Mar;33(3):269-75. |
| 25. | The alternative pathway of complement is activated in the glomeruli and tubulointerstitium of mice with adriamycin nephropathy. | Lenderink AM, etal., Am J Physiol Renal Physiol. 2007 Aug;293(2):F555-64. Epub 2007 May 23. |
| 26. | Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. | Maga TK, etal., Hum Mutat. 2010 Jun;31(6):E1445-60. doi: 10.1002/humu.21256. |
| 27. | Inhibition of complement alternative pathway suppresses experimental autoimmune anterior uveitis by modulating T cell responses. | Manickam B, etal., J Biol Chem. 2011 Mar 11;286(10):8472-80. doi: 10.1074/jbc.M110.197616. Epub 2011 Jan 7. |
| 28. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
| 29. | Activated complement in inflamed aqueous humor. | Mondino BJ, etal., Invest Ophthalmol Vis Sci. 1984 Jul;25(7):871-3. |
| 30. | Significance of C2/CFB variants in age-related macular degeneration and polypoidal choroidal vasculopathy in a Japanese population. | Nakata I, etal., Invest Ophthalmol Vis Sci. 2012 Feb 16;53(2):794-8. doi: 10.1167/iovs.11-8468. |
| 31. | Role of different pathways of the complement cascade in experimental bullous pemphigoid. | Nelson KC, etal., J Clin Invest. 2006 Nov;116(11):2892-900. Epub 2006 Oct 5. |
| 32. | Factor B subtypes in Japanese patients with IgA nephropathy and with idiopathic membranous nephropathy. | Nishimukai H, etal., Exp Clin Immunogenet. 1988;5(4):196-202. |
| 33. | Immunoglobulin classes, complement factors and circulating immune complexes in chronic sinusitis patients. | Ogunleye AO and Arinola OG, Afr J Med Med Sci. 2001 Dec;30(4):309-12. |
| 34. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 35. | Hypercomplementemia in adult patients with IgA nephropathy. | Onda K, etal., J Clin Lab Anal. 2007;21(2):77-84. |
| 36. | Elevated plasma levels of the immunosuppressive complement fragment Ba in renal failure. | Oppermann M, etal., Kidney Int. 1991 Nov;40(5):939-47. |
| 37. | C3, C4, factor B and HLA-DR alpha mRNA expression in renal biopsy specimens from patients with IgA nephropathy. | Oren R, etal., Immunology. 1995 Dec;86(4):575-83. |
| 38. | Local extrahepatic expression of complement genes C3, factor B, C2, and C4 is increased in murine lupus nephritis. | Passwell J, etal., J Clin Invest. 1988 Nov;82(5):1676-84. |
| 39. | Association of c3 gene polymorphisms with neovascular age-related macular degeneration in a chinese population. | Pei XT, etal., Curr Eye Res. 2009 Aug;34(8):615-22. |
| 40. | Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H. | Pickering MC, etal., Nat Genet 2002 Aug;31(4):424-8. |
| 41. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 42. | Genetic polymorphism of C3 and Bf in IgA nephropathy. | Rambausek M, etal., Nephrol Dial Transplant. 1987;2(4):208-11. |
| 43. | GOA pipeline | RGD automated data pipeline |
| 44. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 45. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 46. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 47. | Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration (AMD). | Richardson AJ, etal., Invest Ophthalmol Vis Sci. 2009 Feb;50(2):540-3. doi: 10.1167/iovs.08-2423. Epub 2008 Sep 20. |
| 48. | Breakdown product of factor B as an index of complement activation in lepromatous leprosy and its relation with bacillary load. | Saha K, etal., Scand J Immunol. 1983 Jan;17(1):37-43. |
| 49. | [Immunological study in sickle cell disease patients: importance of the complement system]. | Sassi F, etal., Tunis Med. 2003 Mar;81(3):195-9. |
| 50. | Significance of glomerular activation of the alternative pathway and lectin pathway in lupus nephritis. | Sato N, etal., Lupus. 2011 Nov;20(13):1378-86. doi: 10.1177/0961203311415561. Epub 2011 Sep 5. |
| 51. | Comprehensive evaluation of complement components in the course of type I (Lepra) and type II (ENL) reactions. | Sehgal VN, etal., Int J Dermatol. 1989 Jan-Feb;28(1):32-5. |
| 52. | Activation of the complement system in systemic sclerosis. Relationship to clinical severity. | Senaldi G, etal., Arthritis Rheum. 1989 Oct;32(10):1262-7. |
| 53. | Elevated IgG and decreased complement component C3 and factor B in B-thalassaemia major. | Sinniah D and Yadav M, Acta Paediatr Scand. 1981 Jul;70(4):547-50. |
| 54. | Fragment Bb: evidence for activation of the alternative pathway of the complement system in pregnant women with acute pyelonephritis. | Soto E, etal., J Matern Fetal Neonatal Med. 2010 Oct;23(10):1085-90. doi: 10.3109/14767051003649870. |
| 55. | C3 R102G polymorphism increases risk of age-related macular degeneration. | Spencer KL, etal., Hum Mol Genet. 2008 Jun 15;17(12):1821-4. doi: 10.1093/hmg/ddn075. Epub 2008 Mar 6. |
| 56. | Autoantibody to complement neoantigens in membranoproliferative glomerulonephritis. | Strife CF, etal., J Pediatr. 1990 May;116(5):S98-102. |
| 57. | Excessive activation of the alternative complement pathway in autosomal dominant polycystic kidney disease. | Su Z, etal., J Intern Med. 2014 Feb 4. doi: 10.1111/joim.12214. |
| 58. | A novel antibody against human factor B that blocks formation of the C3bB proconvertase and inhibits complement activation in disease models. | Subias M, etal., J Immunol. 2014 Dec 1;193(11):5567-75. doi: 10.4049/jimmunol.1402013. Epub 2014 Oct 29. |
| 59. | Complement activation in type 1 human diabetes. | Sundsmo JS, etal., Clin Immunol Immunopathol. 1985 May;35(2):211-25. |
| 60. | Complement alternative pathway activation in the autologous phase of nephrotoxic serum nephritis. | Thurman JM, etal., Am J Physiol Renal Physiol. 2012 Jun 15;302(12):F1529-36. doi: 10.1152/ajprenal.00422.2011. Epub 2012 Apr 4. |
| 61. | Treatment with an inhibitory monoclonal antibody to mouse factor B protects mice from induction of apoptosis and renal ischemia/reperfusion injury. | Thurman JM, etal., J Am Soc Nephrol. 2006 Mar;17(3):707-15. Epub 2006 Feb 8. |
| 62. | Lack of a functional alternative complement pathway ameliorates ischemic acute renal failure in mice. | Thurman JM, etal., J Immunol. 2003 Feb 1;170(3):1517-23. |
| 63. | Enhanced susceptibility to acute pneumococcal otitis media in mice deficient in complement C1qa, factor B, and factor B/C2. | Tong HH, etal., Infect Immun. 2010 Mar;78(3):976-83. doi: 10.1128/IAI.01012-09. Epub 2010 Jan 11. |
| 64. | Circulating immune complexes and complement levels in hemophilic children. | Verroust F, etal., J Clin Lab Immunol. 1981 Sep;6(2):127-30. |
| 65. | [Changes of the complement system in myelodysplastic syndromes]. | Villaescusa Blanco R, etal., Sangre (Barc). 1998 Jun;43(3):210-2. |
| 66. | Association of CFH and CFB gene polymorphisms with retinopathy in type 2 diabetic patients. | Wang J, etal., Mediators Inflamm. 2013;2013:748435. doi: 10.1155/2013/748435. Epub 2013 Jun 24. |
| 67. | Modulation of renal disease in MRL/lpr mice genetically deficient in the alternative complement pathway factor B. | Watanabe H, etal., J Immunol. 2000 Jan 15;164(2):786-94. |
| 68. | Association between polymorphisms of complement pathway genes and age-related macular degeneration in a Chinese population. | Wu L, etal., Invest Ophthalmol Vis Sci. 2013 Jan 7;54(1):170-4. doi: 10.1167/iovs.12-10453. |
| 69. | Genetic mapping of C4 and Bf complement genes in the rat major histocompatibility complex. | Wurst W, etal., Immunogenetics 1988;28(1):57-60. |
| 70. | Bf and C4 phenotypes in patients with psoriasis. | Wyatt RJ, etal., Acta Derm Venereol Suppl (Stockh). 1989;146:211-3. |
| 71. | Association of C2 and CFB polymorphisms with anterior uveitis. | Yang MM, etal., Invest Ophthalmol Vis Sci. 2012 Jul 27;53(8):4969-74. doi: 10.1167/iovs.12-9478. |
| 72. | Complement factor B is the downstream effector of TLRs and plays an important role in a mouse model of severe sepsis. | Zou L, etal., J Immunol. 2013 Dec 1;191(11):5625-35. doi: 10.4049/jimmunol.1301903. Epub 2013 Oct 23. |
Additional References at PubMed
| PMID:8889548 | PMID:9238044 | PMID:12477932 | PMID:16502470 | PMID:22516433 | PMID:23376485 | PMID:23533145 | PMID:27564415 |
Genomics
Comparative Map Data
| Cfb (Rattus norvegicus - Norway rat) |
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| CFB (Homo sapiens - human) |
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| Cfb (Mus musculus - house mouse) |
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| Cfb (Chinchilla lanigera - long-tailed chinchilla) |
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| CFB (Pan paniscus - bonobo/pygmy chimpanzee) |
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| CFB (Canis lupus familiaris - dog) |
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| Cfb (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| CFB (Sus scrofa - pig) |
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| CFB (Chlorocebus sabaeus - green monkey) |
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| Cfb (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Cfb
23 total Variants 
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