Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ITGAM | Human | branched-chain keto acid dehydrogenase kinase deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Crosstalk Between CD11b and Piezo1 Mediates Macrophage Responses to Mechanical Cues. | Atcha H, etal., Front Immunol. 2021 Sep 22;12:689397. doi: 10.3389/fimmu.2021.689397. eCollection 2021. |
| 2. | Identification of miR-210-5p in human placentae from pregnancies complicated by preeclampsia and intrauterine growth restriction, and its potential role in the pregnancy complications. | Awamleh Z and Han VKM, Pregnancy Hypertens. 2020 Jan;19:159-168. doi: 10.1016/j.preghy.2020.01.002. Epub 2020 Jan 14. |
| 3. | Integrin-mediated neutrophil adhesion and retinal leukostasis in diabetes. | Barouch FC, etal., Invest Ophthalmol Vis Sci. 2000 Apr;41(5):1153-8. |
| 4. | Perioperative platelet and monocyte activation in patients with critical limb ischemia. | Burdess A, etal., J Vasc Surg. 2010 Sep;52(3):697-703. doi: 10.1016/j.jvs.2010.04.024. |
| 5. | Preventing the infiltration of leukocytes by monoclonal antibody blocks the development of progressive ischemia in rat burns. | Choi M, etal., Plast Reconstr Surg. 1995 Oct;96(5):1177-85; discussion 1186-7. |
| 6. | Antibodies against adhesion molecules reduce apoptosis after transient middle cerebral artery occlusion in rat brain. | Chopp M, etal., J Cereb Blood Flow Metab. 1996 Jul;16(4):578-84. doi: 10.1097/00004647-199607000-00007. |
| 7. | Postischemic administration of an anti-Mac-1 antibody reduces ischemic cell damage after transient middle cerebral artery occlusion in rats. | Chopp M, etal., Stroke. 1994 Apr;25(4):869-75; discussion 875-6. doi: 10.1161/01.str.25.4.869. |
| 8. | Antibodies against Mac-1 attenuate neutrophil accumulation after traumatic brain injury in rats. | Clark RS, etal., J Neurotrauma. 1996 Jun;13(6):333-41. doi: 10.1089/neu.1996.13.333. |
| 9. | Inhibition of human neutrophils NEP activity, CD11b/CD18 expression and elastase release by 3,4-dihydroxyphenylethanol-elenolic acid dialdehyde, oleacein. | Czerwińska ME, etal., Food Chem. 2014 Jun 15;153:1-8. doi: 10.1016/j.foodchem.2013.12.019. Epub 2013 Dec 11. |
| 10. | Differential Plasma Protein Regulation and Statin Effects in Human Immunodeficiency Virus (HIV)-Infected and Non-HIV-Infected Patients Utilizing a Proteomics Approach. | deFilippi C, etal., J Infect Dis. 2020 Aug 17;222(6):929-939. doi: 10.1093/infdis/jiaa196. |
| 11. | Validation of the circulating monocyte being representative of the cholesterol-loaded macrophage: biomediator activity. | Devaraj S and Jialal I, Arch Pathol Lab Med. 2008 Sep;132(9):1432-5. doi: 10.5858/2008-132-1432-VOTCMB. |
| 12. | Global ischemia-induced modifications in the expression of AMPA receptors and inflammation in rat brain. | Dos-Anjos S, etal., Brain Res. 2009 Sep 1;1287:20-7. doi: 10.1016/j.brainres.2009.06.065. Epub 2009 Jun 27. |
| 13. | Pentameric CRP attenuates inflammatory effects of mmLDL by inhibiting mmLDL--monocyte interactions. | Eisenhardt SU, etal., Atherosclerosis. 2012 Oct;224(2):384-93. doi: 10.1016/j.atherosclerosis.2012.07.039. Epub 2012 Aug 10. |
| 14. | Palmitate promotes monocyte atherogenicity via de novo ceramide synthesis. | Gao D, etal., Free Radic Biol Med. 2012 Aug 15;53(4):796-806. doi: 10.1016/j.freeradbiomed.2012.05.026. Epub 2012 May 26. |
| 15. | The effect of midazolam on neutrophil mitogen-activated protein kinase. | Ghori K, etal., Eur J Anaesthesiol. 2010 Jun;27(6):562-5. doi: 10.1097/EJA.0b013e3283328442. |
| 16. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 17. | The effect of clonidine, an alpha-2 adrenergic receptor agonist, on inflammatory response and postischemic endothelium function during early reperfusion in healthy volunteers. | Gourdin M, etal., J Cardiovasc Pharmacol. 2012 Dec;60(6):553-60. doi: 10.1097/FJC.0b013e31827303fa. |
| 18. | Mac-1 (CD11b/CD18) links inflammation and thrombosis after glomerular injury. | Hirahashi J, etal., Circulation. 2009 Sep 29;120(13):1255-65. Epub 2009 Sep 14. |
| 19. | Fasting glucose level modulates cell surface expression of CD11b and CD66b in granulocytes and monocytes of patients with type 2 diabetes. | Horvath P, etal., J Investig Med. 2013 Aug;61(6):972-7. doi: 10.2310/JIM.0b013e3182961517. |
| 20. | Determinants of platelet conjugate formation with polymorphonuclear leukocytes or monocytes in whole blood. | Izzi B, etal., Thromb Haemost. 2007 Dec;98(6):1276-84. |
| 21. | Functional inactivation of neutrophils with a Mac-1 (CD11b/CD18) monoclonal antibody protects against ischemia-reperfusion injury in rat liver. | Jaeschke H, etal., Hepatology. 1993 May;17(5):915-23. |
| 22. | Increased BBB Permeability Enhances Activation of Microglia and Exacerbates Loss of Dendritic Spines After Transient Global Cerebral Ischemia. | Ju F, etal., Front Cell Neurosci. 2018 Aug 3;12:236. doi: 10.3389/fncel.2018.00236. eCollection 2018. |
| 23. | Mac-1 (CD11b/CD18) and intercellular adhesion molecule-1 in ischemia-reperfusion injury of rat liver. | Kobayashi A, etal., Am J Physiol Gastrointest Liver Physiol. 2001 Aug;281(2):G577-85. doi: 10.1152/ajpgi.2001.281.2.G577. |
| 24. | Translocator protein localises to CD11b+ macrophages in atherosclerosis. | Kopecky C, etal., Atherosclerosis. 2019 May;284:153-159. doi: 10.1016/j.atherosclerosis.2019.03.011. Epub 2019 Mar 18. |
| 25. | Persistent behavioral impairments and neuroinflammation following global ischemia in the rat. | Langdon KD, etal., Eur J Neurosci. 2008 Dec;28(11):2310-8. doi: 10.1111/j.1460-9568.2008.06513.x. Epub 2008 Nov 3. |
| 26. | Store-operated calcium channel inhibition attenuates neutrophil function and postshock acute lung injury. | Lee C, etal., J Trauma. 2005 Jul;59(1):56-63; discussion 63. doi: 10.1097/01.ta.0000171456.54921.fe. |
| 27. | The pattern of inflammation in rat sepsis due to enterotoxin-producing Staphylococcus aureus: a comparison with ischemia-reperfusion injury. | Lin RY, etal., J Med. 1996;27(5-6):303-17. |
| 28. | Organ-specific innate immune responses in a mouse model of invasive candidiasis. | Lionakis MS, etal., J Innate Immun. 2011;3(2):180-99. doi: 10.1159/000321157. Epub 2010 Nov 9. |
| 29. | Lower prevalence of circulating invariant natural killer T (iNKT) cells in patients with acute myocardial infarction undergoing primary coronary stenting. | Liu LL, etal., Int Immunopharmacol. 2011 Apr;11(4):480-4. doi: 10.1016/j.intimp.2010.12.019. Epub 2011 Jan 14. |
| 30. | Signature of subclinical femoral artery atherosclerosis in peripheral blood mononuclear cells. | Llorente-Cortés V, etal., Eur J Clin Invest. 2014 Jun;44(6):539-48. doi: 10.1111/eci.12267. |
| 31. | Dysfunction of complement receptors CR3 (CD11b/18) and CR4 (CD11c/18) in pre-eclampsia: a genetic and functional study. | Lokki AI, etal., BJOG. 2021 Jul;128(8):1282-1291. doi: 10.1111/1471-0528.16660. Epub 2021 Mar 14. |
| 32. | Age, gender and disease-related platelet and neutrophil activation ex vivo in whole blood samples from patients with Behçet's disease. | Macey M, etal., Rheumatology (Oxford). 2011 Oct;50(10):1849-59. doi: 10.1093/rheumatology/ker177. Epub 2011 Jun 29. |
| 33. | Small molecule-mediated activation of the integrin CD11b/CD18 reduces inflammatory disease. | Maiguel D, etal., Sci Signal. 2011 Sep 6;4(189):ra57. doi: 10.1126/scisignal.2001811. |
| 34. | A Genetic Model of Constitutively Active Integrin CD11b/CD18. | Martinez L, etal., J Immunol. 2020 Nov 1;205(9):2545-2553. doi: 10.4049/jimmunol.1901402. Epub 2020 Sep 16. |
| 35. | Down regulation of CD11b and CD18 expression in children with hypercholesterolemia: a preliminary report. | Martino F, etal., Nutr Metab Cardiovasc Dis. 2009 Feb;19(2):105-9. doi: 10.1016/j.numecd.2008.05.001. Epub 2008 Aug 3. |
| 36. | Neutrophil surface expression of CD11b and CD62L in diabetic microangiopathy. | Mastej K and Adamiec R, Acta Diabetol. 2008 Sep;45(3):183-90. doi: 10.1007/s00592-008-0040-0. Epub 2008 May 22. |
| 37. | Platelet Serotonin Aggravates Myocardial Ischemia/Reperfusion Injury via Neutrophil Degranulation. | Mauler M, etal., Circulation. 2019 Feb 12;139(7):918-931. doi: 10.1161/CIRCULATIONAHA.118.033942. |
| 38. | Primed polymorphonuclear leukocytes constitute a possible link between inflammation and oxidative stress in hyperlipidemic patients. | Mazor R, etal., Atherosclerosis. 2008 Apr;197(2):937-43. doi: 10.1016/j.atherosclerosis.2007.08.014. Epub 2007 Sep 17. |
| 39. | Roles of beta 2 integrins of rat neutrophils in complement- and oxygen radical-mediated acute inflammatory injury. | Mulligan MS, etal., J Immunol. 1992 Mar 15;148(6):1847-57. |
| 40. | Circulating platelet and neutrophil activation correlates with the clinical course of unstable angina. | Murasaki S, etal., Heart Vessels. 2007 Nov;22(6):376-82. doi: 10.1007/s00380-007-0999-4. Epub 2007 Nov 26. |
| 41. | High-density lipoprotein reduces the human monocyte inflammatory response. | Murphy AJ, etal., Arterioscler Thromb Vasc Biol. 2008 Nov;28(11):2071-7. doi: 10.1161/ATVBAHA.108.168690. Epub 2008 Jul 10. |
| 42. | Reconstituted High-Density Lipoprotein Attenuates Cholesterol Crystal-Induced Inflammatory Responses by Reducing Complement Activation. | Niyonzima N, etal., J Immunol. 2015 Jul 1;195(1):257-64. doi: 10.4049/jimmunol.1403044. Epub 2015 May 29. |
| 43. | Neutrophil and monocyte toll-like receptor 4, CD11b and reactive oxygen intermediates, and neuroimaging outcomes in preterm infants. | O'Hare FM, etal., Pediatr Res. 2015 Jul;78(1):82-90. doi: 10.1038/pr.2015.66. Epub 2015 Mar 31. |
| 44. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 45. | Monocyte-platelet aggregates and CD11b expression as markers for thrombogenicity in atrial fibrillation. | Pfluecke C, etal., Clin Res Cardiol. 2016 Apr;105(4):314-22. doi: 10.1007/s00392-015-0922-4. Epub 2015 Sep 28. |
| 46. | Atrial fibrillation is associated with high levels of monocyte-platelet-aggregates and increased CD11b expression in patients with aortic stenosis. | Pfluecke C, etal., Thromb Haemost. 2016 May 2;115(5):993-1000. doi: 10.1160/TH15-06-0477. Epub 2016 Jan 14. |
| 47. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 48. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 49. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 50. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 51. | Exaggerated neutrophil-mediated reperfusion injury after ischemic stroke in a rodent model of type 2 diabetes. | Ritter L, etal., Microcirculation. 2011 Oct;18(7):552-61. doi: 10.1111/j.1549-8719.2011.00115.x. |
| 52. | Hemodynamic resuscitation with arginine vasopressin reduces lung injury after brain death in the transplant donor. | Rostron AJ, etal., Transplantation. 2008 Feb 27;85(4):597-606. doi: 10.1097/TP.0b013e31816398dd. |
| 53. | Solulin reduces infarct volume and regulates gene-expression in transient middle cerebral artery occlusion in rats. | Ryang YM, etal., BMC Neurosci. 2011 Nov 14;12:113. doi: 10.1186/1471-2202-12-113. |
| 54. | Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus. | Sanchez E, etal., Ann Rheum Dis. 2011 Jun 30. |
| 55. | Modulatory effect of 17β-estradiol on myeloid cell infiltration into the male rat brain after ischemic stroke. | Scheld M, etal., J Steroid Biochem Mol Biol. 2020 Sep;202:105667. doi: 10.1016/j.jsbmb.2020.105667. Epub 2020 May 11. |
| 56. | Toll-like receptor 2 and 4 stimulation elicits an enhanced inflammatory response in human obese patients with atherosclerosis. | Scholtes VP, etal., Clin Sci (Lond). 2011 Sep;121(5):205-14. doi: 10.1042/CS20100601. |
| 57. | Role of beta 2 integrins and ICAM-1 in lung injury following ischemia-reperfusion of rat hind limbs. | Seekamp A, etal., Am J Pathol. 1993 Aug;143(2):464-72. |
| 58. | Is Iba-1 protein expression a sensitive marker for microglia activation in experimental diabetic retinopathy? | Shi FJ, etal., Int J Ophthalmol. 2021 Feb 18;14(2):200-208. doi: 10.18240/ijo.2021.02.04. eCollection 2021. |
| 59. | Ischemic limb preconditioning downregulates systemic inflammatory activation. | Szabó A, etal., J Orthop Res. 2009 Jul;27(7):897-902. doi: 10.1002/jor.20829. |
| 60. | The integrins. | Takada Y, etal., Genome Biol. 2007;8(5):215. |
| 61. | Quantitative real-time RT-PCR assessment of spinal microglial and astrocytic activation markers in a rat model of neuropathic pain. | Tanga FY, etal., Neurochem Int 2004 Jul-Aug;45(2-3):397-407. |
| 62. | Reduction of atrial fibrillation burden by pulmonary vein isolation leads to a decrease of CD11b expression on inflammatory cells. | Tarnowski D, etal., Europace. 2018 Mar 1;20(3):459-465. doi: 10.1093/europace/euw383. |
| 63. | Tamoxifen attenuates inflammatory-mediated damage and improves functional outcome after spinal cord injury in rats. | Tian DS, etal., J Neurochem. 2009 Jun;109(6):1658-67. doi: 10.1111/j.1471-4159.2009.06077.x. Epub 2009 Mar 30. |
| 64. | δ-Opioid receptor activation rescues the functional TrkB receptor and protects the brain from ischemia-reperfusion injury in the rat. | Tian X, etal., PLoS One. 2013 Jul 2;8(7):e69252. doi: 10.1371/journal.pone.0069252. Print 2013. |
| 65. | Neutrophil-derived reactive oxygen species can modulate neutrophil adhesion to endothelial cells in preeclampsia. | Tsukimori K, etal., Am J Hypertens. 2008 May;21(5):587-91. doi: 10.1038/ajh.2007.87. Epub 2008 Mar 6. |
| 66. | RNA-seq based transcriptome analysis of the protective effect of compound longmaining decoction on acute myocardial infarction. | Wang C, etal., J Pharm Biomed Anal. 2018 Sep 5;158:339-345. doi: 10.1016/j.jpba.2018.06.016. Epub 2018 Jun 18. |
| 67. | Activated microglia provide a neuroprotective role by balancing glial cell-line derived neurotrophic factor and tumor necrosis factor-α secretion after subacute cerebral ischemia. | Wang J, etal., Int J Mol Med. 2013 Jan;31(1):172-8. doi: 10.3892/ijmm.2012.1179. Epub 2012 Nov 13. |
| 68. | Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn. | Wang M, etal., Respir Res. 2020 Feb 13;21(1):53. doi: 10.1186/s12931-020-1314-5. |
| 69. | Protective Effects of Modeled Superoxide Dismutase Coordination Compound (MSODa) Against Ischemia/Reperfusion Injury in Rat Skeletal Muscle. | Wang XT, etal., Cell Physiol Biochem. 2015;37(2):465-76. doi: 10.1159/000430369. Epub 2015 Aug 28. |
| 70. | Proteomic analysis of foot ulcer tissue reveals novel potential therapeutic targets of wound healing in diabetic foot ulcers. | Wang Y, etal., Comput Biol Med. 2023 Jun;159:106858. doi: 10.1016/j.compbiomed.2023.106858. Epub 2023 Apr 13. |
| 71. | Harmful neutrophil subsets in patients with ischemic stroke: Association with disease severity. | Weisenburger-Lile D, etal., Neurol Neuroimmunol Neuroinflamm. 2019 May 15;6(4):e571. doi: 10.1212/NXI.0000000000000571. eCollection 2019 Jul. |
| 72. | Distinctive roles of neutrophils and monocytes in anti-thy-1 nephritis. | Westerhuis R, etal., Am J Pathol. 2000 Jan;156(1):303-10. doi: 10.1016/S0002-9440(10)64731-1. |
| 73. | Sustained monocyte activation in clinical remission of systemic vasculitis. | Wikman A, etal., Inflammation. 2008 Dec;31(6):384-90. doi: 10.1007/s10753-008-9089-8. |
| 74. | Erythropoietin protects the inner blood-retinal barrier by inhibiting microglia phagocytosis via Src/Akt/cofilin signalling in experimental diabetic retinopathy. | Xie H, etal., Diabetologia. 2021 Jan;64(1):211-225. doi: 10.1007/s00125-020-05299-x. Epub 2020 Oct 26. |
| 75. | Intracoronary shear-related up-regulation of platelet P-selectin and platelet-monocyte aggregation despite the use of aspirin and clopidogrel. | Yong AS, etal., Blood. 2011 Jan 6;117(1):11-20. doi: 10.1182/blood-2010-04-278812. Epub 2010 Sep 27. |
| 76. | Effects of a selective CD11b/CD18 antagonist and recombinant human tissue plasminogen activator treatment alone and in combination in a rat embolic model of stroke. | Zhang L, etal., Stroke. 2003 Jul;34(7):1790-5. doi: 10.1161/01.STR.0000077016.55891.2E. Epub 2003 Jun 12. |
| 77. | Postischemic treatment (2-4 h) with anti-CD11b and anti-CD18 monoclonal antibodies are neuroprotective after transient (2 h) focal cerebral ischemia in the rat. | Zhang ZG, etal., Brain Res. 1995 Nov 6;698(1-2):79-85. doi: 10.1016/0006-8993(95)00830-j. |
| 78. | Deficiency of ITGAM Attenuates Experimental Abdominal Aortic Aneurysm in Mice. | Zhou M, etal., J Am Heart Assoc. 2021 Apr 6;10(7):e019900. doi: 10.1161/JAHA.120.019900. Epub 2021 Mar 20. |
Additional References at PubMed
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| PMID:23334594 | PMID:23376485 | PMID:23398146 | PMID:23451151 | PMID:23452299 | PMID:23469114 | PMID:23479224 | PMID:23514737 | PMID:23533145 | PMID:23573259 | PMID:23671673 | PMID:23708937 |
| PMID:23720274 | PMID:23727038 | PMID:23740937 | PMID:23753600 | PMID:23754403 | PMID:23812215 | PMID:23874603 | PMID:23880611 | PMID:23918739 | PMID:23981064 | PMID:24210817 | PMID:24264377 |
| PMID:24269694 | PMID:24373176 | PMID:24608226 | PMID:24623722 | PMID:24726062 | PMID:24782118 | PMID:24829201 | PMID:24871463 | PMID:24886912 | PMID:24945596 | PMID:25005557 | PMID:25024378 |
| PMID:25136078 | PMID:25231265 | PMID:25238263 | PMID:25305756 | PMID:25315704 | PMID:25365491 | PMID:25461401 | PMID:25554420 | PMID:25613106 | PMID:25645918 | PMID:25655529 | PMID:25678086 |
| PMID:25971554 | PMID:26036990 | PMID:26170143 | PMID:26293614 | PMID:26306739 | PMID:26309131 | PMID:26361072 | PMID:26422753 | PMID:26512111 | PMID:26773105 | PMID:26852488 | PMID:27178742 |
| PMID:27384580 | PMID:27460017 | PMID:27534550 | PMID:27606963 | PMID:28183849 | PMID:28263189 | PMID:28292891 | PMID:28398520 | PMID:28669815 | PMID:28807980 | PMID:28939773 | PMID:29049725 |
| PMID:29120575 | PMID:29207897 | PMID:29424023 | PMID:29540475 | PMID:29575196 | PMID:29632532 | PMID:30041578 | PMID:30097533 | PMID:30397336 | PMID:30498196 | PMID:30619243 | PMID:30689427 |
| PMID:30712924 | PMID:30769810 | PMID:30967528 | PMID:31211819 | PMID:31227791 | PMID:31541017 | PMID:31733719 | PMID:31774828 | PMID:31852826 | PMID:31907993 | PMID:32296183 | PMID:32382571 |
| PMID:32513696 | PMID:32687490 | PMID:32693110 | PMID:32785810 | PMID:33104706 | PMID:33148999 | PMID:33305306 | PMID:33961781 | PMID:34283878 | PMID:34338598 | PMID:34588497 | PMID:34635743 |
| PMID:35012346 | PMID:35256949 | PMID:36796515 | PMID:36822392 | PMID:36949045 | PMID:37236195 | PMID:37239465 | PMID:37311743 | PMID:37562584 | PMID:37892170 | PMID:37933872 | PMID:37937521 |
| PMID:38413872 | PMID:38637126 | PMID:38730209 | PMID:38907234 | PMID:39004752 |
Genomics
Comparative Map Data
| ITGAM (Homo sapiens - human) |
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| Itgam (Mus musculus - house mouse) |
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| Itgam (Rattus norvegicus - Norway rat) |
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| Itgam (Chinchilla lanigera - long-tailed chinchilla) |
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| ITGAM (Pan paniscus - bonobo/pygmy chimpanzee) |
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| ITGAM (Canis lupus familiaris - dog) |
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| Itgam (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| ITGAM (Sus scrofa - pig) |
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| ITGAM (Chlorocebus sabaeus - green monkey) |
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| Itgam (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in ITGAM
790 total Variants 
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