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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | GSTT1 | Human | epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epilepsy | ClinVar | | |
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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | GSTT1 | Human | epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epilepsy | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | GSTM1, GSTT1, GSTP1 and CYP1A1 genetic polymorphisms and susceptibility to esophageal cancer in a French population: different pattern of squamous cell carcinoma and adenocarcinoma. | Abbas A, etal., World J Gastroenterol. 2004 Dec 1;10(23):3389-93. |
2. | T null and M null genotypes of the glutathione S-transferase gene are risk factor for CAD independent of smoking. | Abu-Amero KK, etal., BMC Med Genet. 2006 Apr 19;7:38. |
3. | GSTM1 and GSTT1 deletion genotypes in various spontaneous optic neuropathies in Arabs. | Abu-Amero KK, etal., Br J Ophthalmol. 2009 Aug;93(8):1101-4. Epub 2009 Mar 13. |
4. | Audioprofiles and antioxidant enzyme genotypes in presbycusis. | Angeli SI, etal., Laryngoscope. 2012 Nov;122(11):2539-42. doi: 10.1002/lary.23577. Epub 2012 Sep 10. |
5. | Increased risk for acute myeloid leukaemia in individuals with glutathione S-transferase mu 1 (GSTM1) and theta 1 (GSTT1) gene defects. | Arruda VR, etal., Eur J Haematol. 2001 Jun;66(6):383-8. |
6. | Genetic polymorphism of glutathione S transferases M1 and T1 in Indian patients with hepatocellular carcinoma. | Asim M, etal., Dis Markers. 2010;28(6):369-76. doi: 10.3233/DMA-2010-0717. |
7. | Glutathione S-transferase gene polymorphisms in presbycusis. | Ates NA, etal., Otol Neurotol. 2005 May;26(3):392-7. |
8. | Glutathione S-transferase M1 and T1 polymorphisms may predict adverse effects after therapy in children with medulloblastoma. | Barahmani N, etal., Neuro Oncol. 2009 Jun;11(3):292-300. Epub 2008 Oct 24. |
9. | GSTT1 polymorphism and oral leukoplakia. | Barroso Duarte EC, etal., Anticancer Res. 2006 Jan-Feb;26(1A):427-30. |
10. | Glutathione S-transferase theta 1 (GSTT1) gene defect in myelodysplasia and acute myeloid leukaemia. | Basu T, etal., Lancet. 1997 May 17;349(9063):1450. |
11. | Glutathione S-transferase activity and subunit composition in transitional cell cancer and mucosa of the human bladder. | Berendsen CL, etal., Urology. 1997 Apr;49(4):644-51. |
12. | Biobreeding rat islets exhibit reduced antioxidative defense and N-acetyl cysteine treatment delays type 1 diabetes. | Bogdani M, etal., J Endocrinol. 2013 Jan 18;216(2):111-23. doi: 10.1530/JOE-12-0385. Print 2013 Feb. |
13. | Genetic polymorphisms of glutathione S-transferases and disease activity of rheumatoid arthritis. | Bohanec Grabar P, etal., Clin Exp Rheumatol. 2009 Mar-Apr;27(2):229-36. |
14. | Profile of polymorphisms of drug-metabolising enzymes and the risk of therapy-related leukaemia. | Bolufer P, etal., Br J Haematol. 2007 Feb;136(4):590-6. |
15. | Possible gene dosage effect of glutathione-S-transferases on atopic asthma: using real-time PCR for quantification of GSTM1 and GSTT1 gene copy numbers. | Brasch-Andersen C, etal., Hum Mutat. 2004 Sep;24(3):208-14. |
16. | Association study of multiple gene polymorphisms with the risk of adult-onset primary open-angle glaucoma in a Mexican population. | Buentello-Volante B, etal., Exp Eye Res. 2013 Feb;107:59-64. doi: 10.1016/j.exer.2012.11.013. Epub 2012 Nov 30. |
17. | Glutathione S-transferases M1-1 and T1-1 as risk modifiers for renal cell cancer associated with occupational exposure to chemicals. | Buzio L, etal., Occup Environ Med. 2003 Oct;60(10):789-93. |
18. | Glutathione S-transferases M1, T1 genotypes and the risk of gastric cancer: a case-control study. | Cai L, etal., World J Gastroenterol. 2001 Aug;7(4):506-9. doi: 10.3748/wjg.v7.i4.506. |
19. | The influence of genetic variation in oxidative stress genes on human noise susceptibility. | Carlsson PI, etal., Hear Res. 2005 Apr;202(1-2):87-96. |
20. | Genetic polymorphisms of microsomal epoxide hydroxylase and glutathione S-transferases M1, T1 and P1, interactions with smoking, and risk for esophageal (Barrett) adenocarcinoma. | Casson AG, etal., Cancer Detect Prev. 2006;30(5):423-31. Epub 2006 Oct 24. |
21. | Increased risk for myelodysplastic syndromes in individuals with glutathione transferase theta 1 (GSTT1) gene defect. | Chen H, etal., Lancet. 1996 Feb 3;347(8997):295-7. |
22. | Genetic polymorphisms of metabolic enzymes CYP1A1, CYP2D6, GSTM1 and GSTT1 and leukemia susceptibility. | Chen HC, etal., Eur J Cancer Prev. 2008 Jun;17(3):251-8. doi: 10.1097/CEJ.0b013e3282b72093. |
23. | A meta-analysis of the relationship between glutathione S-transferases gene polymorphism and hepatocellular carcinoma in Asian population. | Chen J, etal., Mol Biol Rep. 2012 Dec;39(12):10383-93. doi: 10.1007/s11033-012-1917-0. Epub 2012 Oct 10. |
24. | Glutathione-S-transferase genotypes influence the risk of chemotherapy-related toxicities and prognosis in Korean patients with diffuse large B-cell lymphoma. | Cho HJ, etal., Cancer Genet Cytogenet. 2010 Apr 1;198(1):40-6. doi: 10.1016/j.cancergencyto.2009.12.004. |
25. | Association of glutathione-S-transferase polymorphisms with atopic dermatitis risk in preschool age children. | Chung J, etal., Clin Chem Lab Med. 2009;47(12):1475-81. |
26. | Impact on response and survival of DNA repair single nucleotide polymorphisms in relapsed or refractory multiple myeloma patients treated with thalidomide. | Cibeira MT, etal., Leuk Res. 2011 Sep;35(9):1178-83. doi: 10.1016/j.leukres.2011.02.009. Epub 2011 Mar 23. |
27. | Association of periodontitis with GSTM1/GSTT1-null variants--a pilot study. | Concolino P, etal., Clin Biochem. 2007 Sep;40(13-14):939-45. doi: 10.1016/j.clinbiochem.2007.04.012. Epub 2007 Apr 27. |
28. | Maternal and paternal environmental risk factors, metabolizing GSTM1 and GSTT1 polymorphisms, and congenital heart disease. | Cresci M, etal., Am J Cardiol. 2011 Dec 1;108(11):1625-31. doi: 10.1016/j.amjcard.2011.07.022. Epub 2011 Sep 3. |
29. | GST genotype may modify clinical phenotype in patients with Fanconi anaemia. | Davies SM, etal., Br J Haematol. 2005 Oct;131(1):118-22. |
30. | Genetic interaction of GSH metabolic pathway genes in cystic fibrosis. | de Lima Marson FA, etal., BMC Med Genet. 2013 Jun 10;14:60. doi: 10.1186/1471-2350-14-60. |
31. | Association between the genetic polymorphisms of glutathione S-transferase (GSTM1 and GSTT1) and the clinical manifestations in sickle cell anemia. | de Oliveira Filho RA, etal., Blood Cells Mol Dis. 2013 Aug;51(2):76-9. doi: 10.1016/j.bcmd.2013.03.003. Epub 2013 Apr 13. |
32. | Association of combined genetic variations in SOD3, GPX3, PON1, and GSTT1 with hypertension and severity of coronary artery disease. | Decharatchakul N, etal., Heart Vessels. 2020 Jul;35(7):918-929. doi: 10.1007/s00380-020-01564-6. Epub 2020 Feb 8. |
33. | A case-control study of CYP1A1, GSTT1 and GSTM1 gene polymorphisms, pregnancy smoking and fetal growth restriction. | Delpisheh A, etal., Eur J Obstet Gynecol Reprod Biol. 2009 Mar;143(1):38-42. doi: 10.1016/j.ejogrb.2008.11.006. Epub 2009 Jan 14. |
34. | Glutathione S transferase theta 1 gene (GSTT1) null genotype is associated with an increased risk for acquired aplastic anemia in children. | Dirksen U, etal., Pediatr Res. 2004 Mar;55(3):466-71. Epub 2003 Dec 17. |
35. | Increased cardiovascular morbidity and mortality in type 2 diabetes is associated with the glutathione S transferase theta-null genotype: a Go-DARTS study. | Doney AS, etal., Circulation. 2005 Jun 7;111(22):2927-34. Epub 2005 May 31. |
36. | Genetic polymorphisms of carcinogen metabolizing enzymes are associated with oral leukoplakia development and p53 overexpression. | Duarte EC, etal., Anticancer Res. 2008 Mar-Apr;28(2A):1101-6. |
37. | A population-based, case-control study of polymorphisms in carcinogen-metabolizing genes, smoking, and pancreatic adenocarcinoma risk. | Duell EJ, etal., J Natl Cancer Inst. 2002 Feb 20;94(4):297-306. doi: 10.1093/jnci/94.4.297. |
38. | Glutathione S-transferase T1-null seems to be associated with graft failure in hematopoietic SCT. | Elhasid R, etal., Bone Marrow Transplant. 2010 Dec;45(12):1728-31. doi: 10.1038/bmt.2010.61. Epub 2010 Mar 29. |
39. | Genetic polymorphism of GSTT1 and GSTM1 and susceptibility to chronic obstructive pulmonary disease (COPD). | Faramawy MM, etal., J Crit Care. 2009 Sep;24(3):e7-10. |
40. | Correlating of GSTM1, GSTT1, and GSTP1 genetic polymorphisms with the risk and expressions in children with isolated Hirschsprung disease. | Gao H, etal., Int J Colorectal Dis. 2011 Jan;26(1):117-25. doi: 10.1007/s00384-010-1013-7. Epub 2010 Jul 27. |
41. | Glutathione S-transferase mu and theta polymorphisms and breast cancer susceptibility. | Garcia-Closas M, etal., J Natl Cancer Inst. 1999 Nov 17;91(22):1960-4. |
42. | Association analysis of TNFR2, VDR, A2M, GSTT1, GSTM1, and ACE genes with rheumatoid arthritis in South Asians and Caucasians of East Midlands in the United Kingdom. | Ghelani AM, etal., Rheumatol Int. 2010 Apr 18. |
43. | Association of CYP1A1, GSTM1, and GSTT1 gene polymorphism with risk of oral submucous fibrosis in a section of North Indian population. | Ghosh T, etal., Mol Biol Rep. 2012 Oct;39(10):9383-9. doi: 10.1007/s11033-012-1802-x. Epub 2012 Jul 1. |
44. | Inheritance and Myelodysplasia progression. | Giannouli S and Voulgarelis M, Leuk Res. 2013 Oct;37(10):1185-6. doi: 10.1016/j.leukres.2013.06.001. Epub 2013 Jul 13. |
45. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
46. | Evaluating glutathione S-transferase (GST) null genotypes (GSTT1 and GSTM1) as a potential biomarker of predisposition for developing leukopenia. | Goncalves MS, etal., Int J Lab Hematol. 2010 Feb;32(1 Pt 1):e49-56. doi: 10.1111/j.1751-553X.2009.01169.x. Epub 2009 Jun 23. |
47. | Association GSTT1, GSTM1 and GSTP1 (Ile105Val) genetic polymorphisms in mothers with risk of congenital malformations in their children in Western Siberia: a case-control study. | Gordeeva LA, etal., Prenat Diagn. 2013 Nov;33(11):1095-101. doi: 10.1002/pd.4204. Epub 2013 Aug 24. |
48. | The role of genetic determinant in the development of severe perinatal asphyxia. | Gorovenko NG, etal., Tsitol Genet. 2010 Sep-Oct;44(5):41-6. |
49. | [Analysis of genetic predisposition to pulmonary tuberculosis in native Russians]. | Gra OA, etal., Genetika. 2010 Feb;46(2):262-71. |
50. | [Correlation between smoking and the polymorphisms of cytochrome P450 1A1-Msp I and glutathione S-transferase T1 genes and oral cancer]. | Guo L, etal., Hua Xi Kou Qiang Yi Xue Za Zhi. 2012 Apr;30(2):187-91. |
51. | Increased risk for therapy-associated hematologic malignancies in patients with carcinoma of the breast and combined homozygous gene deletions of glutathione transferases M1 and T1. | Haase D, etal., Leuk Res. 2002 Mar;26(3):249-54. |
52. | A common variant in the glutathione S transferase gene is associated with elevated markers of inflammation and lipid peroxidation in subjects with diabetes mellitus. | Hayek T, etal., Atherosclerosis. 2006 Feb;184(2):404-12. Epub 2005 Jul 5. |
53. | Combined glutathione S-transferase T1 and M1 positive genotypes afford protection against type 2 diabetes in Japanese. | Hori M, etal., Pharmacogenomics. 2007 Oct;8(10):1307-14. |
54. | Genetic polymorphisms in genes encoding antioxidant enzymes are associated with diabetic retinopathy in type 1 diabetes. | Hovnik T, etal., Diabetes Care. 2009 Dec;32(12):2258-62. doi: 10.2337/dc09-0852. Epub 2009 Sep 14. |
55. | Association of glutathione S-transferase polymorphisms (GSTM1 and GSTT1) with primary open-angle glaucoma: an evidence-based meta-analysis. | Huang W, etal., Gene. 2013 Sep 10;526(2):80-6. doi: 10.1016/j.gene.2013.05.032. Epub 2013 Jun 4. |
56. | Glutathione S-Transferase M1 and T1 Gene Polymorphisms and the Outcome of Chronic Hepatitis C Virus Infection in Egyptian Patients. | Ibrahim AM, etal., Ann Hum Genet. 2016 Jan;80(1):32-7. doi: 10.1111/ahg.12138. Epub 2015 Nov 9. |
57. | Influence of glutathione-related genes on symptoms and immunologic markers among vulcanization workers in the southern Sweden rubber industries. | Jonsson LS, etal., Int Arch Occup Environ Health. 2008 Jul;81(7):913-9. Epub 2007 Dec 8. |
58. | Interaction of glutathione S-transferase M1 and T1 genotypes and malignant melanoma. | Kanetsky PA, etal., Cancer Epidemiol Biomarkers Prev. 2001 May;10(5):509-13. |
59. | Influence of glutathione-S-transferase theta (GSTT1) and micro (GSTM1) gene polymorphisms on the susceptibility of hepatocellular carcinoma in Taiwan. | Kao CC, etal., J Surg Oncol. 2010 Sep 15;102(4):301-7. doi: 10.1002/jso.21643. |
60. | Non-Jewish Israeli IBD patients have significantly higher glutathione S-transferase GSTT1-null frequency. | Karban A, etal., Dig Dis Sci. 2011 Jul;56(7):2081-7. Epub 2011 Jan 18. |
61. | Effect of interactions of glutathione S-transferase T1, M1, and P1 and HMOX1 gene promoter polymorphisms with heavy smoking on the risk of rheumatoid arthritis. | Keenan BT, etal., Arthritis Rheum. 2010 Nov;62(11):3196-210. doi: 10.1002/art.27639. |
62. | The association of glutathione S-transferase GSTT1 and GSTM1 gene polymorphism with pseudoexfoliative glaucoma in a Pakistani population. | Khan MI, etal., Mol Vis. 2010 Oct 26;16:2146-52. |
63. | Combined analysis of germline polymorphisms of p53, GSTM1, GSTT1, CYP1A1, and CYP2E1: relation to the incidence rate of cervical carcinoma. | Kim JW, etal., Cancer. 2000 May 1;88(9):2082-91. |
64. | Genetic polymorphisms in the cytochromes P-450 (1A1, 2E1), microsomal epoxide hydrolase and glutathione S-transferase M1, T1, and P1 genes, and their relationship with chronic bronchitis and relapsing pneumonia in children. | Korytina GF, etal., J Mol Med. 2005 Sep;83(9):700-10. Epub 2005 Jun 1. |
65. | Polymorphisms of the glutathione S-transferases mu-1 (GSTM1) and theta-1 (GSTT1) and the risk of advanced alcoholic liver disease. | Ladero JM, etal., Scand J Gastroenterol. 2005 Mar;40(3):348-53. doi: 10.1080/00365520510012109. |
66. | Clinical significance of GSTM1 and GSTT1 polymorphisms in younger patients with acute myeloid leukemia of intermediate-risk cytogenetics. | Lee HS, etal., Leuk Res. 2009 Mar;33(3):426-33. doi: 10.1016/j.leukres.2008.07.021. Epub 2008 Aug 29. |
67. | [Genetic polymorphism of GST gene in children with infectious mononucleosis and acute lymphocytic leukemia]. | Li YH, etal., Zhongguo Dang Dai Er Ke Za Zhi. 2012 Apr;14(4):260-3. |
68. | Maternal smoking and oral clefts: the role of detoxification pathway genes. | Lie RT, etal., Epidemiology. 2008 Jul;19(4):606-15. doi: 10.1097/EDE.0b013e3181690731. |
69. | Cystic fibrosis transmembrane conductance regulator gene mutations and glutathione S-transferase null genotypes in cystic fibrosis patients in Brazil. | Lima CS, etal., J Bras Pneumol. 2012 Jan-Feb;38(1):50-6. doi: 10.1590/s1806-37132012000100008. |
70. | Xenobiotic gene polymorphisms and susceptibility to multiple myeloma. | Lincz LF, etal., Haematologica. 2004 May;89(5):628-9. |
71. | Polymorphisms of glutathione S-transferase mu1 (GSTM1) and theta 1 (GSTT1) genes in chronic myeloid leukaemia. | Lourenco GJ, etal., Eur J Haematol. 2005 Dec;75(6):530-1. |
72. | Are glutathione S-transferase polymorphisms (GSTM1, GSTT1) associated with primary open angle glaucoma? A meta-analysis. | Lu Y, etal., Gene. 2013 Sep 15;527(1):311-5. doi: 10.1016/j.gene.2013.06.031. Epub 2013 Jul 1. |
73. | Association between GSTM1 and GSTT1 polymorphisms and esophageal squamous cell carcinoma: results from a case-control study in Kashmir, India. | Makhdoomi MA, etal., Tumour Biol. 2015 Apr;36(4):2613-9. doi: 10.1007/s13277-014-2882-0. Epub 2014 Nov 29. |
74. | GSTM1 and GSTT1 polymorphisms and the risk of prostate cancer in a Caribbean population of African descent. | Mallick S, etal., Urology. 2007 Jun;69(6):1165-9. |
75. | Gluthatione-S-transferase T1-null genotype predisposes adults to acute promyelocytic leukemia; a case-control study. | Mandegary A, etal., Asian Pac J Cancer Prev. 2011;12(5):1279-82. |
76. | Glutathione S-transferase T1- and M1-null genotypes and coronary artery disease risk in patients with Type 2 diabetes mellitus. | Manfredi S, etal., Pharmacogenomics. 2009 Jan;10(1):29-34. |
77. | Glutathione S-transferase polymorphisms in MS: their relationship to disability. | Mann CL, etal., Neurology. 2000 Feb 8;54(3):552-7. |
78. | ADH1B, ALDH2, GSTM1 and GSTT1 Gene Polymorphic Frequencies among Alcoholics and Controls in the Arcadian Population of Central India | Mansoori AA and Jain SK, Asian Pac J Cancer Prev. 2018 Mar 27;19(3):725-731. doi: 10.22034/APJCP.2018.19.3.725. |
79. | Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study. | Marson FA, etal., BMC Med Genet. 2014 Mar 4;15:27. doi: 10.1186/1471-2350-15-27. |
80. | GSTT1 and GSTM1 null genotypes may facilitate hepatitis C virus infection becoming chronic. | MartÃnez C, etal., J Infect Dis. 2007 May 1;195(9):1320-3. doi: 10.1086/513569. Epub 2007 Mar 15. |
81. | Glutathione S-transferases mu 1, theta 1, pi 1, alpha 1 and mu 3 genetic polymorphisms and the risk of colorectal and gastric cancers in humans. | MartÃnez C, etal., Pharmacogenomics. 2006 Jul;7(5):711-8. doi: 10.2217/14622416.7.5.711. |
82. | Influence of glutathione S-transferase T1 donor/recipient mismatch and anti-GSTT1 antibodies in hepatic graft-versus-host-disease. | MartÃnez-Bravo MJ, etal., Immunol Lett. 2011 Dec 30;141(1):140-4. doi: 10.1016/j.imlet.2011.09.005. Epub 2011 Sep 24. |
83. | Epidemiological factors related to GSTM1 and GSTT1 genes deletion in colon and rectum cancers: A case-control study. | Masood N, etal., Cancer Biomark. 2015;15(5):583-9. doi: 10.3233/CBM-150498. |
84. | Polymorphism of glutathione S-transferase M1 and T1 gene LOCI in COPD. | Mehrotra S, etal., Int J Immunogenet. 2010 Aug;37(4):263-7. Epub 2010 Apr 6. |
85. | Analysis of polymorphisms of tumor necrosis factor-alpha and polymorphic xenobiotic metabolizing enzymes in inflammatory bowel disease: study from northern India. | Mittal RD, etal., J Gastroenterol Hepatol. 2007 Jun;22(6):920-4. |
86. | Genetic polymorphisms in carcinogen metabolism and their association to hereditary nonpolyposis colon cancer. | Moisio AL, etal., Gastroenterology. 1998 Dec;115(6):1387-94. |
87. | Glutathione S-transferase polymorphisms, cruciferous vegetable intake and cancer risk in the Central and Eastern European Kidney Cancer Study. | Moore LE, etal., Carcinogenesis. 2007 Sep;28(9):1960-4. Epub 2007 Jul 7. |
88. | Role of glutathione-S-transferase (GST) polymorphisms in patients with advanced Hodgkin lymphoma: results from the HD2000 GISL trial. | Morabito F, etal., Leuk Lymphoma. 2012 Mar;53(3):406-10. doi: 10.3109/10428194.2011.623254. |
89. | Gene-environment interaction in preterm delivery with special reference to organochlorine pesticides. | Mustafa MD, etal., Mol Hum Reprod. 2013 Jan;19(1):35-42. doi: 10.1093/molehr/gas039. Epub 2012 Sep 3. |
90. | The role of glutathione-S-transferase polymorphisms in ovarian cancer survival. | Nagle CM, etal., Eur J Cancer. 2007 Jan;43(2):283-90. Epub 2006 Nov 3. |
91. | Possible influence of glutathione S-transferase GSTT1 null genotype on age of onset of sporadic colorectal adenocarcinoma. | Nascimento H, etal., Dis Colon Rectum. 2003 Apr;46(4):510-5. doi: 10.1007/s10350-004-6591-4. |
92. | The Interaction between GSTT1, GSTM1, and GSTP1 Ile105Val Gene Polymorphisms and Environmental Risk Factors in Premalignant Gastric Lesions Risk. | Negovan A, etal., Biomed Res Int. 2017;2017:7365080. doi: 10.1155/2017/7365080. Epub 2017 Jan 15. |
93. | Association of GSTM1 and GSTT1 gene deletions with risk of head and neck cancer in Pakistan: a case control study. | Nosheen M, etal., Asian Pac J Cancer Prev. 2010;11(4):881-5. |
94. | Online Mendelian Inheritance in Man, OMIM (TM). | Online Mendelian Inheritance in Man, OMIM (TM). |
95. | Polymorphisms of glutathione S-transferase mu1 (GSTM1) and theta1 (GSTT1) genes in multiple myeloma. | Ortega MM, etal., Acta Haematol. 2003;109(2):108-9. |
96. | [Cytochrome P4501A1, glutathione S-transferase M1 and T1 gene polymorphisms in chronic myeloid leukemia]. | Ovsepian VA, etal., Genetika. 2010 Oct;46(10):1360-2. |
97. | Glutathione s-transferase m1, t1, and p1 gene polymorphism in exudative age-related macular degeneration: a preliminary report. | Oz O, etal., Eur J Ophthalmol. 2006 Jan - Feb;16(1):105-110. doi: 10.5301/EJO.2008.3524. |
98. | The glutathione-S-transferase gene polymorphisms (Gstt1, Gstm1, and Gstp1) in patients with non-allergic nasal polyposis. | Ozcan C, etal., Eur Arch Otorhinolaryngol. 2010 Feb;267(2):227-32. Epub 2009 Aug 23. |
99. | The impact of smoking on clinical features of Behcet's disease patients with glutathione S-transferase polymorphisms. | Ozer HT, etal., Clin Exp Rheumatol. 2012 May-Jun;30(3 Suppl 72):S14-7. Epub 2012 Oct 8. |
100. | Quantitative dimensions of histopathological attributes and status of GSTM1-GSTT1 in oral submucous fibrosis. | Pal M, etal., Tissue Cell. 2008 Dec;40(6):425-35. doi: 10.1016/j.tice.2008.04.003. Epub 2008 Jun 24. |
101. | GPX3 and GSTT1 as biomarkers related to oxidative stress during renal ischemia reperfusion injuries and their relationship with immune infiltration. | Pei J, etal., Front Immunol. 2023 Mar 22;14:1136146. doi: 10.3389/fimmu.2023.1136146. eCollection 2023. |
102. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
103. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
104. | Cytochrome P4501A1 and glutathione S transferase gene polymorphisms in patients with aplastic anemia in India. | Poonkuzhali B, etal., Acta Haematol. 2005;114(3):127-32. |
105. | Glutathione S-transferase T1 polymorphisms are associated with outcome in colorectal cancer. | Rajagopal R, etal., Carcinogenesis. 2005 Dec;26(12):2157-63. doi: 10.1093/carcin/bgi195. Epub 2005 Jul 28. |
106. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
107. | GSTT1, GSTM1 and GSTP1 polymorphisms and susceptibility to juvenile idiopathic arthritis. | Rohr P, etal., Clin Exp Rheumatol. 2008 Jan-Feb;26(1):151-5. |
108. | Polymorphisms of GSTP1 and GSTT1, but not of CYP2A6, CYP2E1 or GSTM1, modify the risk for esophageal cancer in a western population. | Rossini A, etal., Carcinogenesis. 2007 Dec;28(12):2537-42. doi: 10.1093/carcin/bgm222. Epub 2007 Oct 4. |
109. | Genetic Association and Gene-Gene Interaction Reveal Genetic Variations in ADH1B, GSTM1 and MnSOD Independently Confer Risk to Alcoholic Liver Diseases in India. | Roy N, etal., PLoS One. 2016 Mar 3;11(3):e0149843. doi: 10.1371/journal.pone.0149843. eCollection 2016. |
110. | Copy number variations of GSTT1 and GSTM1, colorectal cancer risk and possible effect modification of cigarette smoking and menopausal hormone therapy. | Rudolph A, etal., Int J Cancer. 2012 Sep 1;131(5):E841-8. doi: 10.1002/ijc.27428. Epub 2012 May 29. |
111. | Association between cataract and genetic polymorphisms of GSTM1, GSTT1, and GSTO2 with respect of work place. | Saadat I, etal., Mol Vis. 2012;18:1996-2000. Epub 2012 Jul 18. |
112. | An evidence for correlation between the glutathione S-transferase T1 (GSTT1) polymorphism and outcome of COVID-19. | Saadat M, Clin Chim Acta. 2020 May 23;508:213-216. doi: 10.1016/j.cca.2020.05.041. |
113. | Prevalence of glutathione S-transferase gene deletions and their effect on sickle cell patients. | Sanjay P, etal., Rev Bras Hematol Hemoter. 2012;34(2):100-2. doi: 10.5581/1516-8484.20120030. |
114. | Genetic Polymorphisms of Multidrug Resistance Gene-1 (MDR1/ABCB1) and Glutathione S-Transferase Gene and the Risk of Inflammatory Bowel Disease among Moroccan Patients. | Senhaji N, etal., Mediators Inflamm. 2015;2015:248060. doi: 10.1155/2015/248060. Epub 2015 Oct 28. |
115. | Glutathione S-transferase (GST) polymorphisms as risk factors for cancer in a highly homogeneous population from southern Italy. | Sgambato A, etal., Anticancer Res. 2002 Nov-Dec;22(6B):3647-52. |
116. | Prenatal and infant acetaminophen exposure, antioxidant gene polymorphisms, and childhood asthma. | Shaheen SO, etal., J Allergy Clin Immunol. 2010 Dec;126(6):1141-8.e7. Epub 2010 Nov 4. |
117. | GSTM1 and GSTT1 polymorphism and susceptibility to esophageal cancer in high- and low-risk regions of India. | Sharma A, etal., Tumour Biol. 2013 Oct;34(5):3249-57. doi: 10.1007/s13277-013-0897-6. Epub 2013 Jun 8. |
118. | A case control study of gene environmental interaction in fetal growth restriction with special reference to organochlorine pesticides. | Sharma E, etal., Eur J Obstet Gynecol Reprod Biol. 2012 Apr;161(2):163-9. doi: 10.1016/j.ejogrb.2012.01.008. Epub 2012 Feb 4. |
119. | Glutathione S-transferase gene deletions and their effect on iron status in HbE/beta thalassemia patients. | Sharma V, etal., Ann Hematol. 2010 Apr;89(4):411-4. doi: 10.1007/s00277-009-0847-y. Epub 2009 Oct 17. |
120. | Polymorphism in CYP1A1, GSTMI, GSTT1 genes and organochlorine pesticides in the etiology of hypospadias. | Shekharyadav C, etal., Hum Exp Toxicol. 2011 Oct;30(10):1464-74. doi: 10.1177/0960327110392402. Epub 2011 Feb 7. |
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PMID:18698632 | PMID:18706519 | PMID:18713495 | PMID:18720901 | PMID:18725054 | PMID:18768509 | PMID:18768514 | PMID:18768784 | PMID:18774560 | PMID:18778871 | PMID:18779738 | PMID:18816171 |
PMID:18818748 | PMID:18834935 | PMID:18836923 | PMID:18839526 | PMID:18840420 | PMID:18850183 | PMID:18950733 | PMID:18976645 | PMID:18977241 | PMID:18979064 | PMID:18986377 | PMID:18990742 |
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PMID:19568698 | PMID:19571817 | PMID:19576039 | PMID:19589345 | PMID:19589847 | PMID:19610060 | PMID:19618282 | PMID:19621425 | PMID:19629346 | PMID:19635899 | PMID:19640174 | PMID:19643173 |
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PMID:19786118 | PMID:19786980 | PMID:19797843 | PMID:19798506 | PMID:19799150 | PMID:19799358 | PMID:19800766 | PMID:19811334 | PMID:19816935 | PMID:19818869 | PMID:19823950 | PMID:19843381 |
PMID:19843669 | PMID:19850945 | PMID:19860557 | PMID:19863340 | PMID:19874347 | PMID:19884712 | PMID:19892789 | PMID:19896490 | PMID:19899130 | PMID:19900941 | PMID:19902106 | PMID:19914269 |
PMID:19917083 | PMID:19921428 | PMID:19922706 | PMID:19927646 | PMID:19933708 | PMID:19947517 | PMID:19948975 | PMID:19953622 | PMID:19956635 | PMID:19960261 | PMID:19960570 | PMID:19963114 |
PMID:20012094 | PMID:20017670 | PMID:20026093 | PMID:20029178 | PMID:20029944 | PMID:20032267 | PMID:20032816 | PMID:20036620 | PMID:20042523 | PMID:20049130 | PMID:20049212 | PMID:20049629 |
PMID:20056207 | PMID:20056567 | PMID:20056632 | PMID:20061204 | PMID:20063011 | PMID:20069434 | PMID:20070240 | PMID:20073549 | PMID:20074657 | PMID:20083259 | PMID:20088379 | PMID:20091863 |
PMID:20093049 | PMID:20095411 | PMID:20097269 | PMID:20100551 | PMID:20109103 | PMID:20110814 | PMID:20120433 | PMID:20130515 | PMID:20131310 | PMID:20134034 | PMID:20136364 | PMID:20156772 |
PMID:20177288 | PMID:20187096 | PMID:20190330 | PMID:20194072 | PMID:20194081 | PMID:20197727 | PMID:20200426 | PMID:20203006 | PMID:20207535 | PMID:20214911 | PMID:20216541 | PMID:20226777 |
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PMID:21993019 | PMID:22011249 | PMID:22012226 | PMID:22018952 | PMID:22027651 | PMID:22048269 | PMID:22048273 | PMID:22054067 | PMID:22058002 | PMID:22116675 | PMID:22126558 | PMID:22146408 |
PMID:22154357 | PMID:22160572 | PMID:22183307 | PMID:22207034 | PMID:22207177 | PMID:22207314 | PMID:22215096 | PMID:22225519 | PMID:22228187 | PMID:22237425 | PMID:22248273 | PMID:22296360 |
PMID:22296370 | PMID:22327174 | PMID:22330623 | PMID:22335459 | PMID:22339266 | PMID:22377702 | PMID:22383780 | PMID:22392686 | PMID:22393996 | PMID:22471480 | PMID:22471491 | PMID:22475179 |
PMID:22484660 | PMID:22484853 | PMID:22502660 | PMID:22502694 | PMID:22502716 | PMID:22510168 | PMID:22528457 | PMID:22539183 | PMID:22631654 | PMID:22652274 | PMID:22653598 | PMID:22664944 |
PMID:22665971 | PMID:22681588 | PMID:22686321 | PMID:22692893 | PMID:22697302 | PMID:22724567 | PMID:22729902 | PMID:22732554 | PMID:22734843 | PMID:22736250 | PMID:22782090 | PMID:22788240 |
PMID:22799358 | PMID:22812193 | PMID:22813660 | PMID:22841242 | PMID:22845549 | PMID:22852846 | PMID:22858312 | PMID:22874804 | PMID:22880812 | PMID:22885711 | PMID:22893352 | PMID:22903474 |
PMID:22905990 | PMID:22918668 | PMID:22938433 | PMID:22939629 | PMID:22952149 | PMID:22960333 | PMID:22994755 | PMID:23013535 | PMID:23014993 | PMID:23019974 | PMID:23021798 | PMID:23026209 |
PMID:23076538 | PMID:23077643 | PMID:23107768 | PMID:23146971 | PMID:23152866 | PMID:23153768 | PMID:23159492 | PMID:23164539 | PMID:23167350 | PMID:23167353 | PMID:23167410 | PMID:23173169 |
PMID:23184765 | PMID:23185284 | PMID:23189206 | PMID:23215883 | PMID:23222181 | PMID:23227845 | PMID:23232001 | PMID:23238916 | PMID:23238917 | PMID:23239128 | PMID:23244092 | PMID:23265943 |
PMID:23268570 | PMID:23274376 | PMID:23275234 | PMID:23275251 | PMID:23293967 | PMID:23296061 | PMID:23311983 | PMID:23317232 | PMID:23330093 | PMID:23342067 | PMID:23343819 | PMID:23365641 |
PMID:23376175 | PMID:23376485 | PMID:23377313 | PMID:23397542 | PMID:23433732 | PMID:23437305 | PMID:23444898 | PMID:23444902 | PMID:23450492 | PMID:23464442 | PMID:23469236 | PMID:23484121 |
PMID:23512328 | PMID:23533145 | PMID:23552977 | PMID:23570881 | PMID:23585855 | PMID:23589999 | PMID:23600494 | PMID:23609031 | PMID:23628324 | PMID:23631429 | PMID:23637998 | PMID:23661016 |
PMID:23679259 | PMID:23690164 | PMID:23696026 | PMID:23717494 | PMID:23720024 | PMID:23725116 | PMID:23731957 | PMID:23765968 | PMID:23767447 | PMID:23773486 | PMID:23790786 | PMID:23794132 |
PMID:23798465 | PMID:23810248 | PMID:23877133 | PMID:23886141 | PMID:23886197 | PMID:23886208 | PMID:23888321 | PMID:23900078 | PMID:23949201 | PMID:23959468 | PMID:23975364 | PMID:23979980 |
PMID:23982010 | PMID:24008019 | PMID:24040330 | PMID:24053064 | PMID:24072652 | PMID:24075358 | PMID:24086370 | PMID:24098457 | PMID:24114827 | PMID:24122206 | PMID:24124608 | PMID:24189400 |
PMID:24189890 | PMID:24194954 | PMID:24203463 | PMID:24216264 | PMID:24250808 | PMID:24254297 | PMID:24282086 | PMID:24291050 | PMID:24295891 | PMID:24319713 | PMID:24326830 | PMID:24337975 |
PMID:24339523 | PMID:24352702 | PMID:24375038 | PMID:24381101 | PMID:24382428 | PMID:24407598 | PMID:24411789 | PMID:24453034 | PMID:24460270 | PMID:24460278 | PMID:24500512 | PMID:24508281 |
PMID:24527777 | PMID:24528063 | PMID:24532428 | PMID:24535271 | PMID:24535881 | PMID:24535898 | PMID:24535908 | PMID:24559168 | PMID:24562622 | PMID:24582550 | PMID:24586676 | PMID:24605635 |
PMID:24637014 | PMID:24637631 | PMID:24640692 | PMID:24659449 | PMID:24670356 | PMID:24671854 | PMID:24685594 | PMID:24716937 | PMID:24716977 | PMID:24732639 | PMID:24754249 | PMID:24788870 |
PMID:24809844 | PMID:24815471 | PMID:24818511 | PMID:24840051 | PMID:24845160 | PMID:24852428 | PMID:24854448 | PMID:24879623 | PMID:24902621 | PMID:24907267 | PMID:24908960 | PMID:24913811 |
PMID:24914957 | PMID:24915237 | PMID:24970787 | PMID:24994605 | PMID:25010410 | PMID:25015263 | PMID:25027082 | PMID:25036724 | PMID:25040976 | PMID:25086621 | PMID:25101770 | PMID:25102096 |
PMID:25124586 | PMID:25186055 | PMID:25198353 | PMID:25208225 | PMID:25251951 | PMID:25263840 | PMID:25305053 | PMID:25341249 | PMID:25348056 | PMID:25357227 | PMID:25358668 | PMID:25366778 |
PMID:25375048 | PMID:25378345 | PMID:25408579 | PMID:25420021 | PMID:25427726 | PMID:25445355 | PMID:25461363 | PMID:25472599 | PMID:25525805 | PMID:25532576 | PMID:25542503 | PMID:25549292 |
PMID:25588060 | PMID:25595865 | PMID:25628002 | PMID:25646594 | PMID:25654087 | PMID:25663492 | PMID:25697264 | PMID:25724184 | PMID:25735248 | PMID:25735346 | PMID:25773389 | PMID:25775823 |
PMID:25790712 | PMID:25799091 | PMID:25867025 | PMID:25868597 | PMID:25876999 | PMID:25880856 | PMID:25910212 | PMID:25923095 | PMID:25990411 | PMID:26003511 | PMID:26046920 | PMID:26103006 |
PMID:26125819 | PMID:26125851 | PMID:26150166 | PMID:26154646 | PMID:26158735 | PMID:26163595 | PMID:26175060 | PMID:26179485 | PMID:26186891 | PMID:26207596 | PMID:26208492 | PMID:26238667 |
PMID:26244436 | PMID:26252359 | PMID:26295386 | PMID:26314858 | PMID:26327568 | PMID:26344197 | PMID:26345960 | PMID:26350109 | PMID:26370772 | PMID:26407578 | PMID:26416453 | PMID:26434855 |
PMID:26435566 | PMID:26456689 | PMID:26529288 | PMID:26535568 | PMID:26552558 | PMID:26571237 | PMID:26577857 | PMID:26580648 | PMID:26620773 | PMID:26656529 | PMID:26663067 | PMID:26667829 |
PMID:26782376 | PMID:26782535 | PMID:26785830 | PMID:26823865 | PMID:26970590 | PMID:26970898 | PMID:27021019 | PMID:27039739 | PMID:27043549 | PMID:27059044 | PMID:27060407 | PMID:27062139 |
PMID:27090234 | PMID:27099270 | PMID:27151508 | PMID:27152506 | PMID:27173202 | PMID:27215231 | PMID:27268642 | PMID:27294127 | PMID:27323100 | PMID:27323114 | PMID:27372567 | PMID:27421065 |
PMID:27461642 | PMID:27466493 | PMID:27498857 | PMID:27500405 | PMID:27521595 | PMID:27523793 | PMID:27562082 | PMID:27568660 | PMID:27631264 | PMID:27644629 | PMID:27686690 | PMID:27706600 |
PMID:27706763 | PMID:27721257 | PMID:27758991 | PMID:27834815 | PMID:27885941 | PMID:27908841 | PMID:27911277 | PMID:27920455 | PMID:28043918 | PMID:28176509 | PMID:28198496 | PMID:28216421 |
PMID:28292921 | PMID:28315511 | PMID:28348449 | PMID:28361858 | PMID:28365671 | PMID:28401601 | PMID:28426525 | PMID:28427236 | PMID:28434254 | PMID:28455582 | PMID:28472806 | PMID:28485343 |
PMID:28514442 | PMID:28556645 | PMID:28585914 | PMID:28692121 | PMID:28696897 | PMID:28710033 | PMID:28711952 | PMID:28744640 | PMID:28770368 | PMID:28837637 | PMID:28947711 | PMID:28951769 |
PMID:28952035 | PMID:28980936 | PMID:29067933 | PMID:29072241 | PMID:29072550 | PMID:29074540 | PMID:29076184 | PMID:29111615 | PMID:29215312 | PMID:29235020 | PMID:29243583 | PMID:29267651 |
PMID:29338478 | PMID:29376593 | PMID:29395491 | PMID:29523098 | PMID:29556619 | PMID:29641697 | PMID:29666321 | PMID:29704242 | PMID:29795558 | PMID:29896743 | PMID:29909733 | PMID:29932073 |
PMID:29981844 | PMID:30021884 | PMID:30039864 | PMID:30152122 | PMID:30153758 | PMID:30179425 | PMID:30203367 | PMID:30341887 | PMID:30356976 | PMID:30362312 | PMID:30362324 | PMID:30419877 |
PMID:30471640 | PMID:30526121 | PMID:30539835 | PMID:30539845 | PMID:30617052 | PMID:30659796 | PMID:30694518 | PMID:30696891 | PMID:30726102 | PMID:30732132 | PMID:30737837 | PMID:30803216 |
PMID:30811718 | PMID:30883948 | PMID:30900957 | PMID:30909663 | PMID:30963629 | PMID:30995900 | PMID:31002594 | PMID:31111691 | PMID:31218944 | PMID:31222646 | PMID:31244319 | PMID:31445152 |
PMID:31460838 | PMID:31554367 | PMID:31637859 | PMID:31648673 | PMID:31650384 | PMID:31677022 | PMID:31707358 | PMID:31774007 | PMID:31813877 | PMID:31889716 | PMID:31999731 | PMID:32067264 |
PMID:32102530 | PMID:32155154 | PMID:32188413 | PMID:32216135 | PMID:32237725 | PMID:32345069 | PMID:32435918 | PMID:32488710 | PMID:32494978 | PMID:32510757 | PMID:32525579 | PMID:32615823 |
PMID:32658338 | PMID:32703339 | PMID:32719018 | PMID:32846793 | PMID:32855063 | PMID:32856852 | PMID:32899025 | PMID:32930109 | PMID:33002252 | PMID:33124502 | PMID:33191823 | PMID:33203728 |
PMID:33295410 | PMID:33361859 | PMID:33452993 | PMID:33470551 | PMID:33492571 | PMID:33546147 | PMID:33600611 | PMID:33605864 | PMID:33709282 | PMID:33801838 | PMID:33804102 | PMID:33867339 |
PMID:33934228 | PMID:33961781 | PMID:33970355 | PMID:33990973 | PMID:34003050 | PMID:34052967 | PMID:34190143 | PMID:34193266 | PMID:34454376 | PMID:34496736 | PMID:34499222 | PMID:34535163 |
PMID:34656741 | PMID:34766662 | PMID:34871528 | PMID:34965566 | PMID:35103568 | PMID:35132887 | PMID:35186174 | PMID:35293017 | PMID:35320225 | PMID:35469450 | PMID:35507115 | PMID:35674599 |
PMID:35760484 | PMID:35944360 | PMID:36013573 | PMID:36037119 | PMID:36197156 | PMID:36215168 | PMID:36232322 | PMID:36305131 | PMID:36604567 | PMID:36703205 | PMID:36800835 | PMID:36833382 |
PMID:36963735 | PMID:37054833 | PMID:37113088 | PMID:37326751 | PMID:37469043 | PMID:37612787 | PMID:37678329 | PMID:38178055 | PMID:38376296 | PMID:38419025 | PMID:38462864 | PMID:38508308 |
PMID:38518393 | PMID:39004322 | PMID:39063019 | PMID:39068558 | PMID:39433861 |
GSTT1 (Homo sapiens - human) |
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Gstt1 (Mus musculus - house mouse) |
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Gstt1 (Rattus norvegicus - Norway rat) |
|
Name | Type | Condition(s) | Position(s) | Clinical significance |
Single allele | duplication | Epilepsy [RCV001293375] | Chr22:23699269..24992266 [GRCh37] Chr22:22q11.23 |
pathogenic |
GRCh37/hg19 22q11.23(chr22:24347988-24385948)x1 | copy number loss | See cases [RCV000136233] | Chr22:24347988..24385948 [GRCh37] Chr22:22677988..22715948 [NCBI36] Chr22:22q11.23 |
benign |
GRCh37/hg19 22q11.23(chr22:24347988-24385948)x0 | copy number loss | See cases [RCV000136234] | Chr22:24347988..24385948 [GRCh37] Chr22:22677988..22715948 [NCBI36] Chr22:22q11.23 |
benign |
GRCh37/hg19 22q11.23(chr22:24328565-24385948)x0 | copy number loss | See cases [RCV000136388] | Chr22:24328565..24385948 [GRCh37] Chr22:22658565..22715948 [NCBI36] Chr22:22q11.23 |
benign |
GRCh37/hg19 22q11.23(chr22:24371005-24382415)x0 | copy number loss | See cases [RCV000137080] | Chr22:24371005..24382415 [GRCh37] Chr22:22701005..22712415 [NCBI36] Chr22:22q11.23 |
benign |
GRCh37/hg19 22q11.23(chr22:23891773-24991691)x3 | copy number gain | See cases [RCV000203419] | Chr22:23891773..24991691 [GRCh37] Chr22:22q11.23 |
likely pathogenic |
GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046803)x3 | copy number gain | See cases [RCV000239808] | Chr22:23258229..25046803 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 | copy number loss | Premature ovarian failure [RCV000225330] | Chr22:18738296..25914592 [GRCh37] Chr22:22q11.21-12.1 |
benign |
GRCh37/hg19 22q11.22-11.23(chr22:22976696-25053311)x3 | copy number gain | See cases [RCV000239999] | Chr22:22976696..25053311 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 | copy number gain | See cases [RCV000240091] | Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 | copy number gain | See cases [RCV000240348] | Chr22:16054691..27296513 [GRCh37] Chr22:22q11.1-12.1 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 | copy number gain | See cases [RCV000446956] | Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.22-11.23(chr22:23258938-25002659)x3 | copy number gain | See cases [RCV000446585] | Chr22:23258938..25002659 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:21804562-24659578)x3 | copy number gain | See cases [RCV000445928] | Chr22:21804562..24659578 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
GRCh37/hg19 22q11.22-11.23(chr22:22997802-25002659)x3 | copy number gain | See cases [RCV000445706] | Chr22:22997802..25002659 [GRCh37] Chr22:22q11.22-11.23 |
likely pathogenic |
GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046758)x3 | copy number gain | See cases [RCV000445819] | Chr22:23258229..25046758 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
GRCh37/hg19 22q11.23(chr22:23652517-25042987)x3 | copy number gain | See cases [RCV000448006] | Chr22:23652517..25042987 [GRCh37] Chr22:22q11.23 |
uncertain significance |
NC_000022.10:g.(?_23667751)_(25041986_?)dup | duplication | Schizophrenia [RCV000416698] | Chr22:23667751..25041986 [GRCh37] Chr22:21997751..23371986 [NCBI36] Chr22:22q11.23 |
likely pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 | copy number gain | See cases [RCV000448847] | Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NC_000022.10:g.(?_22971580)_(25041986_?)dup | duplication | Schizophrenia [RCV000416783] | Chr22:22971580..25041986 [GRCh37] Chr22:21301580..23371986 [NCBI36] Chr22:22q11.22-11.23 |
likely pathogenic |
GRCh37/hg19 22q11.23(chr22:23739611-24544632)x4 | copy number gain | See cases [RCV000448428] | Chr22:23739611..24544632 [GRCh37] Chr22:22q11.23 |
pathogenic |
NC_000022.10:g.(?_23667751)_(24991609_?)dup | duplication | Schizophrenia [RCV000416915] | Chr22:23667751..24991609 [GRCh37] Chr22:21997751..23321609 [NCBI36] Chr22:22q11.23 |
likely pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3 | copy number gain | See cases [RCV000510487] | Chr22:21798907..24963935 [GRCh37] Chr22:22q11.21-11.23 |
uncertain significance |
GRCh37/hg19 22q11.23(chr22:23690387-25039018)x3 | copy number gain | See cases [RCV000511883] | Chr22:23690387..25039018 [GRCh37] Chr22:22q11.23 |
uncertain significance |
GRCh37/hg19 22q11.22-11.23(chr22:22997802-25033630)x3 | copy number gain | See cases [RCV000511378] | Chr22:22997802..25033630 [GRCh37] Chr22:22q11.22-11.23 |
uncertain significance |
GRCh37/hg19 22q11.23(chr22:23690387-25066472)x3 | copy number gain | See cases [RCV000511837] | Chr22:23690387..25066472 [GRCh37] Chr22:22q11.23 |
uncertain significance |
GRCh37/hg19 22q11.23(chr22:23690387-24666092)x1 | copy number loss | See cases [RCV000511065] | Chr22:23690387..24666092 [GRCh37] Chr22:22q11.23 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) | copy number gain | See cases [RCV000510873] | Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 | copy number gain | See cases [RCV000511098] | Chr22:23637907..36614412 [GRCh37] Chr22:22q11.23-12.3 |
pathogenic |
GRCh37/hg19 22q11.23(chr22:23653979-25066472)x3 | copy number gain | See cases [RCV000512168] | Chr22:23653979..25066472 [GRCh37] Chr22:22q11.23 |
uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 | copy number gain | See cases [RCV000512333] | Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.23(chr22:23652549-25042987)x3 | copy number gain | See cases [RCV000512454] | Chr22:23652549..25042987 [GRCh37] Chr22:22q11.23 |
uncertain significance |
GRCh37/hg19 22q11.23(chr22:23720171-25065576) | copy number gain | Cerebellar ataxia [RCV000626496] | Chr22:23720171..25065576 [GRCh37] Chr22:22q11.23 |
uncertain significance |
GRCh37/hg19 22q11.22-11.23(chr22:22951048-25156289)x3 | copy number gain | not provided [RCV000684506] | Chr22:22951048..25156289 [GRCh37] Chr22:22q11.22-11.23 |
likely pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1 | copy number loss | not provided [RCV000684518] | Chr22:21465661..24653491 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1 | copy number loss | not provided [RCV000684520] | Chr22:21465661..24885806 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 | copy number gain | not provided [RCV000684530] | Chr22:22460754..35198232 [GRCh37] Chr22:22q11.22-12.3 |
pathogenic |
GRCh37/hg19 22q11.23(chr22:23650871-25002659)x3 | copy number gain | not provided [RCV000684494] | Chr22:23650871..25002659 [GRCh37] Chr22:22q11.23 |
likely pathogenic |
GRCh37/hg19 22q11.22-11.23(chr22:22945889-25059631)x3 | copy number gain | not provided [RCV000684504] | Chr22:22945889..25059631 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic|likely pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 | copy number gain | not provided [RCV000741689] | Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 | copy number gain | not provided [RCV000741691] | Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 | copy number gain | not provided [RCV000741692] | Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NC_000022.10:g.(?_24129357)_(24836024_?)dup | duplication | not provided [RCV001031059] | Chr22:24129357..24836024 [GRCh37] Chr22:22q11.23 |
uncertain significance |
NC_000022.10:g.(?_24129357)_(24836024_?)del | deletion | not provided [RCV001031302] | Chr22:24129357..24836024 [GRCh37] Chr22:22q11.23 |
pathogenic |
GRCh37/hg19 22q11.23(chr22:23652517-25002659)x3 | copy number gain | 22q11.2 distal duplication syndrome [RCV000788073] | Chr22:23652517..25002659 [GRCh37] Chr22:22q11.23 |
uncertain significance |
GRCh37/hg19 22q11.23(chr22:23653987-25158391) | copy number gain | not provided [RCV000767635] | Chr22:23653987..25158391 [GRCh37] Chr22:22q11.23 |
likely pathogenic |
GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3 | copy number gain | Global developmental delay [RCV000787284] | Chr22:22998284..25119103 [GRCh37] Chr22:22q11.22-11.23 |
likely pathogenic |
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25059631)x3 | copy number gain | not provided [RCV000847639] | Chr22:22962196..25059631 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
GRCh37/hg19 22q11.23(chr22:23698818-25042987)x3 | copy number gain | not provided [RCV000849671] | Chr22:23698818..25042987 [GRCh37] Chr22:22q11.23 |
pathogenic |
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3 | copy number gain | not provided [RCV000845636] | Chr22:23650871..25066472 [GRCh37] Chr22:22q11.23 |
pathogenic |
GRCh37/hg19 22q11.23(chr22:23650200-25066472)x3 | copy number gain | not provided [RCV000849234] | Chr22:23650200..25066472 [GRCh37] Chr22:22q11.23 |
pathogenic |
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25145601)x3 | copy number gain | not provided [RCV000845609] | Chr22:22962196..25145601 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
GRCh37/hg19 22q11.23(chr22:24354511-24522115)x1 | copy number loss | not provided [RCV001007177] | Chr22:24354511..24522115 [GRCh37] Chr22:22q11.23 |
uncertain significance |
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 | copy number gain | not provided [RCV000846344] | Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3 | copy number gain | not provided [RCV000846628] | Chr22:22962195..25002659 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
GRCh37/hg19 22q11.23(chr22:23650872-25002483)x3 | copy number gain | not provided [RCV002473884] | Chr22:23650872..25002483 [GRCh37] Chr22:22q11.23 |
likely pathogenic |
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 | copy number gain | not provided [RCV001007163] | Chr22:16888899..27657507 [GRCh37] Chr22:22q11.1-12.1 |
pathogenic |
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3 | copy number gain | not provided [RCV001007176] | Chr22:23650871..25066472 [GRCh37] Chr22:22q11.23 |
pathogenic |
GRCh37/hg19 22q11.23(chr22:24382750-24521954)x1 | copy number loss | not provided [RCV001007178] | Chr22:24382750..24521954 [GRCh37] Chr22:22q11.23 |
uncertain significance |
GRCh37/hg19 22q11.23-12.1(chr22:24311474-26075188)x3 | copy number gain | See cases [RCV001007417] | Chr22:24311474..26075188 [GRCh37] Chr22:22q11.23-12.1 |
uncertain significance |
GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3 | copy number gain | not provided [RCV001007174] | Chr22:22953514..25002483 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic|likely pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 | copy number gain | not provided [RCV001007169] | Chr22:20732808..25193541 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
GRCh37/hg19 22q11.23(chr22:23720181-25066484)x3 | copy number gain | See cases [RCV001263027] | Chr22:23720181..25066484 [GRCh37] Chr22:22q11.23 |
uncertain significance |
GRCh37/hg19 22q11.22-11.23(chr22:23258368-25059827)x3 | copy number gain | not provided [RCV001258774] | Chr22:23258368..25059827 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
GRCh37/hg19 22q11.23(chr22:23650873-25043046)x3 | copy number gain | not provided [RCV001258776] | Chr22:23650873..25043046 [GRCh37] Chr22:22q11.23 |
pathogenic |
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 | copy number gain | Cat eye syndrome [RCV001263219] | Chr22:16888899..26483608 [GRCh37] Chr22:22q11.1-12.1 |
pathogenic |
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 | copy number gain | See cases [RCV001263056] | Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33 |
pathogenic |
NC_000022.10:g.(?_24129357)_(24836024_?)dup | duplication | not provided [RCV001324555] | Chr22:24129357..24836024 [GRCh37] Chr22:22q11.23 |
uncertain significance |
NC_000022.10:g.(?_23915453)_(24921762_?)dup | duplication | not provided [RCV003120543] | Chr22:23915453..24921762 [GRCh37] Chr22:22q11.23 |
uncertain significance |
GRCh37/hg19 22q11.23(chr22:23689960-25000632)x3 | copy number gain | not provided [RCV001795844] | Chr22:23689960..25000632 [GRCh37] Chr22:22q11.23 |
uncertain significance |
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3 | copy number gain | not provided [RCV001836553] | Chr22:21465661..24631791 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018) | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV002280733] | Chr22:21798906..25039018 [GRCh37] Chr22:22q11.21-11.23 |
pathogenic |
GRCh37/hg19 22q11.23(chr22:23652519-25059631)x3 | copy number gain | Unilateral renal agenesis [RCV002282735] | Chr22:23652519..25059631 [GRCh37] Chr22:22q11.23 |
uncertain significance |
GRCh37/hg19 22q11.22-11.23(chr22:22997929-24995256)x3 | copy number gain | not provided [RCV002473547] | Chr22:22997929..24995256 [GRCh37] Chr22:22q11.22-11.23 |
pathogenic |
GRCh37/hg19 22q11.22-11.23(chr22:22953515-24995256)x3 | copy number gain | not provided [RCV002474578] | Chr22:22953515..24995256 [GRCh37] Chr22:22q11.22-11.23 |
likely pathogenic |
GRCh37/hg19 22q11.23(chr22:23650201-24992266)x3 | copy number gain | not provided [RCV002472515] | Chr22:23650201..24992266 [GRCh37] Chr22:22q11.23 |
likely pathogenic |
NM_000853.4(GSTT1):c.625G>A (p.Glu209Lys) | single nucleotide variant | not specified [RCV004141773] | Chr22:24376521 [GRCh37] Chr22:22q11.23 |
uncertain significance |
NM_000853.4(GSTT1):c.178G>A (p.Gly60Arg) | single nucleotide variant | not specified [RCV004074854] | Chr22:24381722 [GRCh37] Chr22:22q11.23 |
uncertain significance |
NM_000853.4(GSTT1):c.320G>A (p.Arg107Gln) | single nucleotide variant | not specified [RCV004255427] | Chr22:24379392 [GRCh37] Chr22:22q11.23 |
uncertain significance |
GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3 | copy number gain | Chromosome 22q11.2 microduplication syndrome [RCV003329499] | Chr22:23658260..25114888 [GRCh37] Chr22:22q11.23 |
pathogenic |
GRCh37/hg19 22q11.23(chr22:23690388-25066472)x3 | copy number gain | not provided [RCV003485241] | Chr22:23690388..25066472 [GRCh37] Chr22:22q11.23 |
pathogenic |
GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3 | copy number gain | not provided [RCV003457365] | Chr22:22989453..25019883 [GRCh37] Chr22:22q11.22-11.23 |
likely pathogenic |
GRCh37/hg19 22q11.23(chr22:23702548-25008068)x3 | copy number gain | not provided [RCV004442850] | Chr22:23702548..25008068 [GRCh37] Chr22:22q11.23 |
uncertain significance |
GRCh37/hg19 22q11.23(chr22:23652549-25002659)x3 | copy number gain | See cases [RCV004442788] | Chr22:23652549..25002659 [GRCh37] Chr22:22q11.23 |
pathogenic |
GRCh37/hg19 22q11.21-11.23(chr22:21804597-24629406)x3 | copy number gain | not provided [RCV004442791] | Chr22:21804597..24629406 [GRCh37] Chr22:22q11.21-11.23 |
uncertain significance |
NM_000853.4(GSTT1):c.281G>A (p.Arg94His) | single nucleotide variant | not specified [RCV004388365] | Chr22:24379431 [GRCh37] Chr22:22q11.23 |
uncertain significance |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
G54109 |
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G66734 |
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G66735 |
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G66736 |
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||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
G66737 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
G66738 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
D16S2954 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
GSTT1_2791 |
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D11S3114 |
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D11S2921 |
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