Variant ID: 16-50756540-G-T

NM_022162.1(NOD2):c.2722G>T;(p.Gly908Cys)

This variant was identified in 67 publications




Publications:


Genetic association analysis of CLEC5A and CLEC7A gene single-nucleotide polymorphisms and Crohn's disease.

World Journal Of Gastroenterology
N Elleisy, S Rohde, A Huth, N Gittel, Ä Glass, S Möller, G Lamprecht, H Schäffler, R Jaster
Publication Date: 2020-05-14

Variant appearance in text: rs2066845
PMID: 32476786
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NOD2 influences trajectories of intestinal microbiota recovery after antibiotic perturbation.

Cellular And Molecular Gastroenterology And Hepatology
JM Anderson, S Lipinski, F Sommer, WH Pan, O Boulard, A Rehman, M Falk-Paulsen, ST Stengel, K Aden, R Häsler, R Bharti, S Künzel, JF Baines, M Chamaillard, P Rosenstiel
Publication Date: 2020-04-11

Variant appearance in text: N/A
PMID: 32289499
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Polymorphisms of the TNF Gene and Three Susceptibility Loci Are Associated with Crohn's Disease and Perianal Fistula Crohn's Disease: A Study among the Han Population from South China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
M Zhang, X Wang, X Jiang, X Yang, C Wen, M Zhi, X Gao, P Hu, H Liu
Publication Date: 2019-12-17

Variant appearance in text: rs2066845
PMID: 31844038
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Host genetic variability and pneumococcal disease: a systematic review and meta-analysis.

Bmc Medical Genomics
AT Kloek, MC Brouwer, D van de Beek
Publication Date: 2019-09-13

Variant appearance in text: rs2066845
PMID: 31519222
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Genetic variations of NOD2 and MD2 genes in hepatitis B virus infection.

Saudi Journal Of Biological Sciences
MR Al-Anazi, N Nazir, AA Abdo, FM Sanai, S Alkahtani, S Alarifi, AA Alkahtane, H Al-Yahya, D Ali, MS Alessia, MN Al-Ahdal, AA Al-Qahtani
Publication Date: 2019-02

Variant appearance in text: rs2066845
PMID: 31485165
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Genetic effects on the commensal microbiota in inflammatory bowel disease patients.

Plos Genetics
H Aschard, V Laville, ET Tchetgen, D Knights, F Imhann, P Seksik, N Zaitlen, MS Silverberg, J Cosnes, RK Weersma, R Xavier, L Beaugerie, D Skurnik, H Sokol
Publication Date: 2019-03

Variant appearance in text: rs2066845
PMID: 30849075
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Determinants of IBD Heritability: Genes, Bugs, and More.

Inflammatory Bowel Diseases
W Turpin, A Goethel, L Bedrani, K Croitoru Mdcm
Publication Date: 2018-05-18

Variant appearance in text: rs2066845
PMID: 29701818
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Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort.

Genes And Immunity
KA Shaw, DJ Cutler, D Okou, A Dodd, BJ Aronow, Y Haberman, C Stevens, TD Walters, A Griffiths, RN Baldassano, JD Noe, JS Hyams, WV Crandall, BS Kirschner, MB Heyman, S Snapper, S Guthery, MC Dubinsky, JM Shapiro, AR Otley, M Daly, LA Denson, S Kugathasan, ME Zwick
Publication Date: 2019-02

Variant appearance in text: N/A
PMID: 29593342
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Feasibility of salivary DNA collection in a population-based case-control study: a pilot study of pediatric Crohn's disease.

Clinical Epidemiology
MD Kappelman, A Lange, RL Randell, PV Basta, RS Sandler, K Laugesen, A Byrjalsen, T Christensen, T Frøslev, R Erichsen
Publication Date: 2018

Variant appearance in text: rs2066845
PMID: 29535554
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Impaired granulocyte-macrophage colony-stimulating factor bioactivity accelerates surgical recurrence in ileal Crohn's disease.

World Journal Of Gastroenterology
G Gathungu, Y Zhang, X Tian, E Bonkowski, L Rowehl, J Krumsiek, B Nix, C Chalk, B Trapnell, W Zhu, R Newberry, L Denson, E Li
Publication Date: 2018-02-07

Variant appearance in text: rs2066845
PMID: 29434451
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Genetic polymorphism in ATG16L1 gene is associated with adalimumab use in inflammatory bowel disease.

Journal Of Translational Medicine
VJAA Nuij, MP Peppelenbosch, CJ van der Woude, GM Fuhler
Publication Date: 2017-12-11

Variant appearance in text: rs2066845
PMID: 29228965
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Replication and validation of genetic polymorphisms associated with survival after allogeneic blood or marrow transplant.

Blood
E Karaesmen, AA Rizvi, LM Preus, PL McCarthy, MC Pasquini, K Onel, X Zhu, S Spellman, CA Haiman, DO Stram, L Pooler, X Sheng, Q Zhu, L Yan, Q Liu, Q Hu, A Webb, G Brock, AI Clay-Gilmour, S Battaglia, D Tritchler, S Liu, T Hahn, LE Sucheston-Campbell
Publication Date: 2017-09-28

Variant appearance in text: rs2066845
PMID: 28811306
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Genetic Variability as a Regulator of TLR4 and NOD Signaling in Response to Bacterial Driven DNA Damage Response (DDR) and Inflammation: Focus on the Gastrointestinal (GI) Tract.

Frontiers In Genetics
E Spanou, P Kalisperati, IS Pateras, A Papalampros, A Barbouti, AG Tzioufas, A Kotsinas, S Sougioultzis
Publication Date: 2017

Variant appearance in text: rs2066845
PMID: 28611823
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Dysregulation of signaling pathways associated with innate antibacterial immunity in patients with pancreatic cancer.

Central-European Journal Of Immunology
R Słotwiński, SM Słotwińska
Publication Date: 2016

Variant appearance in text: N/A
PMID: 28450804
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Genetic Association of Hematopoietic Stem Cell Transplantation Outcome beyond Histocompatibility Genes.

Frontiers In Immunology
R Gam, P Shah, RE Crossland, J Norden, AM Dickinson, R Dressel
Publication Date: 2017

Variant appearance in text: rs2066845
PMID: 28421078
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Prediction of complicated disease course for children newly diagnosed with Crohn's disease: a multicentre inception cohort study.

Lancet (London, England)
S Kugathasan, LA Denson, TD Walters, MO Kim, UM Marigorta, M Schirmer, K Mondal, C Liu, A Griffiths, JD Noe, WV Crandall, S Snapper, S Rabizadeh, JR Rosh, JM Shapiro, S Guthery, DR Mack, R Kellermayer, MD Kappelman, S Steiner, DE Moulton, D Keljo, S Cohen, M Oliva-Hemker, MB Heyman, AR Otley, SS Baker, JS Evans, BS Kirschner, AS Patel, D Ziring, BC Trapnell, FA Sylvester, MC Stephens, RN Baldassano, JF Markowitz, J Cho, RJ Xavier, C Huttenhower, BJ Aronow, G Gibson, JS Hyams, MC Dubinsky
Publication Date: 2017-04-29

Variant appearance in text: N/A
PMID: 28259484
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Myeloid ATG16L1 Facilitates Host-Bacteria Interactions in Maintaining Intestinal Homeostasis.

Journal Of Immunology (Baltimore, Md. : 1950)
H Zhang, L Zheng, DP McGovern, AM Hamill, R Ichikawa, Y Kanazawa, J Luu, K Kumagai, M Cilluffo, M Fukata, SR Targan, DM Underhill, X Zhang, DQ Shih
Publication Date: 2017-03-01

Variant appearance in text: rs2066845
PMID: 28130498
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Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7.

Nature Genetics
Y Luo, KM de Lange, L Jostins, L Moutsianas, J Randall, NA Kennedy, CA Lamb, S McCarthy, T Ahmad, C Edwards, EG Serra, A Hart, C Hawkey, JC Mansfield, C Mowat, WG Newman, S Nichols, M Pollard, J Satsangi, A Simmons, M Tremelling, H Uhlig, DC Wilson, JC Lee, NJ Prescott, CW Lees, CG Mathew, M Parkes, JC Barrett, CA Anderson
Publication Date: 2017-02

Variant appearance in text: rs2066845
PMID: 28067910
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Crohn's Disease Localization Displays Different Predisposing Genetic Variants.

Plos One
O Palmieri, F Bossa, MR Valvano, G Corritore, T Latiano, G Martino, R D'Incà, S Cucchiara, M Pastore, M D'Altilia, D Scimeca, G Biscaglia, A Andriulli, A Latiano
Publication Date: 2017

Variant appearance in text: N/A
PMID: 28052082
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Systematic meta-analyses and field synopsis of genetic and epigenetic studies in paediatric inflammatory bowel disease.

Scientific Reports
X Li, P Song, M Timofeeva, X Meng, I Rudan, J Little, J Satsangi, H Campbell, E Theodoratou
Publication Date: 2016-09-27

Variant appearance in text: N/A
PMID: 27670835
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Systematic review: genetic biomarkers associated with anti-TNF treatment response in inflammatory bowel diseases.

Alimentary Pharmacology & Therapeutics
S Bek, JV Nielsen, AB Bojesen, A Franke, S Bank, U Vogel, V Andersen
Publication Date: 2016-09

Variant appearance in text: rs2066845
PMID: 27417569
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Genetic Association Analysis Reveals Differences in the Contribution of NOD2 Variants to the Clinical Phenotypes of Orofacial Granulomatosis.

Inflammatory Bowel Diseases
A Mentzer, S Nayee, Y Omar, E Hullah, K Taylor, R Goel, H Bye, T Shembesh, TR Elliott, H Campbell, P Patel, A Nolan, J Mansfield, S Challacombe, M Escudier, CG Mathew, JD Sanderson, NJ Prescott
Publication Date: 2016-07

Variant appearance in text: N/A
PMID: 27306066
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CARD9 impacts colitis by altering gut microbiota metabolism of tryptophan into aryl hydrocarbon receptor ligands.

Nature Medicine
B Lamas, ML Richard, V Leducq, HP Pham, ML Michel, G Da Costa, C Bridonneau, S Jegou, TW Hoffmann, JM Natividad, L Brot, S Taleb, A Couturier-Maillard, I Nion-Larmurier, F Merabtene, P Seksik, A Bourrier, J Cosnes, B Ryffel, L Beaugerie, JM Launay, P Langella, RJ Xavier, H Sokol
Publication Date: 2016-06

Variant appearance in text: rs2066845
PMID: 27158904
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Collecting Biospecimens From an Internet-Based Prospective Cohort Study of Inflammatory Bowel Disease (CCFA Partners): A Feasibility Study.

Jmir Research Protocols
RL Randell, AS Gulati, SF Cook, CF Martin, W Chen, EL Jaeger, AA Schoenborn, PV Basta, H Dejong, J Luo, M Gallant, RS Sandler, MD Long, MD Kappelman
Publication Date: 2016-01-05

Variant appearance in text: N/A
PMID: 26732016
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Association of genetic and psychological factors with persistent pain after cosmetic thoracic surgery.

Journal Of Pain Research
V Dimova, J Lötsch, K Hühne, A Winterpacht, M Heesen, A Parthum, PG Weber, R Carbon, N Griessinger, R Sittl, S Lautenbacher
Publication Date: 2015

Variant appearance in text: rs2066845
PMID: 26664154
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Killing of Escherichia coli by Crohn's Disease Monocyte-derived Macrophages and Its Enhancement by Hydroxychloroquine and Vitamin D.

Inflammatory Bowel Diseases
PK Flanagan, D Chiewchengchol, HL Wright, SW Edwards, A Alswied, J Satsangi, S Subramanian, JM Rhodes, BJ Campbell
Publication Date: 2015-07

Variant appearance in text: N/A
PMID: 25839777
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Association of NOD2 and IL23R with inflammatory bowel disease in Puerto Rico.

Plos One
V Ballester, X Guo, R Vendrell, T Haritunians, AM Klomhaus, D Li, DP McGovern, JI Rotter, EA Torres, KD Taylor
Publication Date: 2014

Variant appearance in text: rs2066845
PMID: 25259511
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Novel missense mutation in the NOD2 gene in a patient with early onset ulcerative colitis: causal or chance association?

International Journal Of Molecular Sciences
M Girardelli, J Vuch, A Tommasini, S Crovella, AM Bianco
Publication Date: 2014-03-03

Variant appearance in text: rs2066845
PMID: 24595243
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A CARD9 polymorphism is associated with decreased likelihood of persistent conjugated hyperbilirubinemia in intestinal failure.

Plos One
KM Burghardt, V Avinashi, C Kosar, W Xu, PW Wales, Y Avitzur, A Muise
Publication Date: 2014

Variant appearance in text: rs2066845
PMID: 24465786
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Intestinal DMBT1 expression is modulated by Crohn's disease-associated IL23R variants and by a DMBT1 variant which influences binding of the transcription factors CREB1 and ATF-2.

Plos One
J Diegelmann, D Czamara, E Le Bras, E Zimmermann, T Olszak, A Bedynek, B Göke, A Franke, J Glas, S Brand
Publication Date: 2013

Variant appearance in text: NOD2: Gly908Arg; rs2066845
PMID: 24223725
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Irritable bowel syndrome-diarrhea: characterization of genotype by exome sequencing, and phenotypes of bile acid synthesis and colonic transit.

American Journal Of Physiology. Gastrointestinal And Liver Physiology
M Camilleri, EW Klee, A Shin, P Carlson, Y Li, M Grover, AR Zinsmeister
Publication Date: 2014-01-01

Variant appearance in text: rs2066845
PMID: 24200957
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Potential association of pulmonary tuberculosis with genetic polymorphisms of toll-like receptor 9 and interferon-gamma in a Chinese population.

Bmc Infectious Diseases
Y Yang, X Li, W Cui, L Guan, F Shen, J Xu, F Zhou, M Li, C Gao, Q Jin, J Liu, L Gao
Publication Date: 2013-10-31

Variant appearance in text: rs2066845
PMID: 24176007
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Intestinal epithelium and autophagy: partners in gut homeostasis.

Frontiers In Immunology
S Randall-Demllo, M Chieppa, R Eri
Publication Date: 2013-09-30

Variant appearance in text: rs2066845
PMID: 24137160
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Addition of host genetic variants in a prediction rule for post meningitis hearing loss in childhood: a model updating study.

Bmc Infectious Diseases
MS Sanders, RC de Jonge, CB Terwee, MW Heymans, I Koomen, S Ouburg, L Spanjaard, SA Morré, AM van Furth
Publication Date: 2013-07-23

Variant appearance in text: rs2066845
PMID: 23879305
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Evidence of expression variation and allelic imbalance in Crohn's disease susceptibility genes NOD2 and ATG16L1 in human dendritic cells.

Gene
J Hu, I Peter
Publication Date: 2013-09-25

Variant appearance in text: rs2066845
PMID: 23850724
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Human enterovirus species B in ileocecal Crohn's disease.

Clinical And Translational Gastroenterology
N Nyström, T Berg, E Lundin, O Skog, I Hansson, G Frisk, I Juko-Pecirep, M Nilsson, U Gyllensten, Y Finkel, J Fuxe, A Wanders
Publication Date: 2013-06-27

Variant appearance in text: N/A
PMID: 23804031
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Leveraging prior information to detect causal variants via multi-variant regression.

Plos Computational Biology
N Long, SP Dickson, JM Maia, HS Kim, Q Zhu, AS Allen
Publication Date: 2013

Variant appearance in text: rs2066845
PMID: 23762022
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Association between a multi-locus genetic risk score and inflammatory bowel disease.

Bioinformatics And Biology Insights
P Hu, AM Muise, X Xing, JH Brumell, MS Silverberg, W Xu
Publication Date: 2013

Variant appearance in text: rs2066845
PMID: 23761965
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Single nucleotide polymorphisms in pathogen recognition receptor genes are associated with susceptibility to meningococcal meningitis in a pediatric cohort.

Plos One
GT van Well, MS Sanders, S Ouburg, V Kumar, AM van Furth, SA Morré
Publication Date: 2013

Variant appearance in text: rs2066845
PMID: 23691182
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Poor reproducibility of allergic rhinitis SNP associations.

Plos One
D Nilsson, AK Andiappan, C Halldén, CF Tim, T Säll, de Y Wang, LO Cardell
Publication Date: 2013

Variant appearance in text: rs2066845
PMID: 23382861
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Celiac disease in a child with ulcerative colitis: a possible genetic association.

Journal Of Clinical Gastroenterology
SX Cheng, A Raizner, UP Phatak, JH Cho, DS Pashankar
Publication Date: 2013-02

Variant appearance in text: N/A
PMID: 23314669
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Genotype/phenotype analyses for 53 Crohn's disease associated genetic polymorphisms.

Plos One
C Jung, JF Colombel, M Lemann, L Beaugerie, M Allez, J Cosnes, G Vernier-Massouille, JM Gornet, JP Gendre, JP Cezard, FM Ruemmele, D Turck, F Merlin, H Zouali, C Libersa, P Dieudé, N Soufir, G Thomas, JP Hugot
Publication Date: 2012

Variant appearance in text: rs2066845
PMID: 23300620
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Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium.

American Journal Of Human Genetics
Q Zhu, D Ge, EL Heinzen, SP Dickson, TJ Urban, M Zhu, JM Maia, M He, Q Zhao, KV Shianna, DB Goldstein
Publication Date: 2012-09-07

Variant appearance in text: rs2066845
PMID: 22939045
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Polymorphisms in Toll-like receptors 2, 4, and 9 are highly associated with hearing loss in survivors of bacterial meningitis.

Plos One
GT van Well, MS Sanders, S Ouburg, AM van Furth, SA Morré
Publication Date: 2012

Variant appearance in text: rs2066845
PMID: 22662111
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Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing.

Journal Of Biomedicine & Biotechnology
JJ Connolly, H Hakonarson
Publication Date: 2012

Variant appearance in text: rs2066845
PMID: 22654485
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IRF5 risk polymorphisms contribute to interindividual variance in pattern recognition receptor-mediated cytokine secretion in human monocyte-derived cells.

Journal Of Immunology (Baltimore, Md. : 1950)
M Hedl, C Abraham
Publication Date: 2012-06-01

Variant appearance in text: rs2066845
PMID: 22544929
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Inherited variation in pattern recognition receptors and cancer: dangerous liaisons?

Cancer Management And Research
AG Kutikhin, AE Yuzhalin
Publication Date: 2012

Variant appearance in text: rs2066845
PMID: 22427729
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Role of ATG16L, NOD2 and IL23R in Crohn's disease pathogenesis.

World Journal Of Gastroenterology
SA Naser, M Arce, A Khaja, M Fernandez, N Naser, S Elwasila, S Thanigachalam
Publication Date: 2012-02-07

Variant appearance in text: N/A
PMID: 22346247
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Clinical predictors of inflammatory bowel disease in a genetically well-defined Caucasian population.

Journal Of Negative Results In Biomedicine
ZM Kanaan, MR Eichenberger, S Ahmad, C Weller, H Roberts, J Pan, SN Rai, R Petras, EB Weller, S Galandiuk
Publication Date: 2012-01-23

Variant appearance in text: rs2066845
PMID: 22269043
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A prospective phase II trial exploring the association between tumor microenvironment biomarkers and clinical activity of ipilimumab in advanced melanoma.

Journal Of Translational Medicine
O Hamid, H Schmidt, A Nissan, L Ridolfi, S Aamdal, J Hansson, M Guida, DM Hyams, H Gómez, L Bastholt, SD Chasalow, D Berman
Publication Date: 2011-11-28

Variant appearance in text: rs2066845
PMID: 22123319
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Distinct and overlapping genetic loci in Crohn's disease and ulcerative colitis: correlations with pathogenesis.

Inflammatory Bowel Diseases
M Waterman, W Xu, JM Stempak, R Milgrom, CN Bernstein, AM Griffiths, GR Greenberg, AH Steinhart, MS Silverberg
Publication Date: 2011-09

Variant appearance in text: rs2066845
PMID: 21830272
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Investigation of multiple susceptibility loci for inflammatory bowel disease in an Italian cohort of patients.

Plos One
A Latiano, O Palmieri, T Latiano, G Corritore, F Bossa, G Martino, G Biscaglia, D Scimeca, MR Valvano, M Pastore, A Marseglia, R D'Incà, A Andriulli, V Annese
Publication Date: 2011

Variant appearance in text: N/A
PMID: 21818367
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An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.

Plos One
G Juyal, P Prasad, S Senapati, V Midha, A Sood, D Amre, RC Juyal, T BK
Publication Date: 2011-01-31

Variant appearance in text: rs2066845
PMID: 21304977
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IL23R and IL12B SNPs and Haplotypes Strongly Associate with Crohn's Disease Risk in a New Zealand Population.

Gastroenterology Research And Practice
LR Ferguson, DY Han, AG Fraser, C Huebner, WJ Lam, AR Morgan
Publication Date: 2010

Variant appearance in text: rs2066845
PMID: 21253534
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Presymptomatic risk assessment for chronic non-communicable diseases.

Plos One
B Padhukasahasram, E Halperin, J Wessel, DJ Thomas, E Silver, H Trumbower, M Cargill, DA Stephan
Publication Date: 2010-12-31

Variant appearance in text: rs2066845
PMID: 21217814
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Molecular reclassification of Crohn's disease by cluster analysis of genetic variants.

Plos One
I Cleynen, JM Mahachie John, L Henckaerts, W Van Moerkercke, P Rutgeerts, K Van Steen, S Vermeire
Publication Date: 2010-09-23

Variant appearance in text: N/A
PMID: 20886065
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Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: rs2066845
PMID: 20876667
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Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study.

Annals Of Human Genetics
JJ Lee, JB Essers, S Kugathasan, JC Escher, G Lettre, JL Butler, MC Stephens, MF Ramoni, RJ Grand, J Hirschhorn
Publication Date: 2010-11

Variant appearance in text: rs2066845
PMID: 20846217
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Toll-like receptor (TLR) and nucleosome-binding oligomerization domain (NOD) gene polymorphisms and endometrial cancer risk.

Bmc Cancer
KA Ashton, A Proietto, G Otton, I Symonds, M McEvoy, J Attia, RJ Scott
Publication Date: 2010-07-21

Variant appearance in text: N/A
PMID: 20646321
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Analysis of candidate genes in occurrence and growth of colorectal adenomas.

Journal Of Oncology
S Olschwang, D Vernerey, V Cottet, A Pariente, B Nalet, J Lafon, J Faivre, P Laurent-Puig, C Bonithon-Kopp, C Bonaiti-Pellié
Publication Date: 2009

Variant appearance in text: N/A
PMID: 19888426
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Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.

Plos Genetics
S Raychaudhuri, RM Plenge, EJ Rossin, AC Ng, , SM Purcell, P Sklar, EM Scolnick, RJ Xavier, D Altshuler, MJ Daly
Publication Date: 2009-06

Variant appearance in text: rs2066845
PMID: 19557189
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Genomic and proteomic analysis of allogeneic hematopoietic cell transplant outcome. Seeking greater understanding the pathogenesis of GVHD and mortality.

Biology Of Blood And Marrow Transplantation : Journal Of The American Society For Blood And Marrow Transplantation
JA Hansen
Publication Date: 2009-01

Variant appearance in text: rs2066845
PMID: 19147066
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MAST3: a novel IBD risk factor that modulates TLR4 signaling.

Genes And Immunity
C Labbé, P Goyette, C Lefebvre, C Stevens, T Green, MK Tello-Ruiz, Z Cao, AL Landry, J Stempak, V Annese, A Latiano, SR Brant, RH Duerr, KD Taylor, JH Cho, AH Steinhart, MJ Daly, MS Silverberg, RJ Xavier, JD Rioux
Publication Date: 2008-10

Variant appearance in text: rs2066845
PMID: 18650832
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Increased immune reactivity predicts aggressive complicating Crohn's disease in children.

Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association
MC Dubinsky, S Kugathasan, L Mei, Y Picornell, J Nebel, I Wrobel, A Quiros, G Silber, G Wahbeh, L Katzir, E Vasiliauskas, R Bahar, A Otley, D Mack, J Evans, J Rosh, MO Hemker, N Leleiko, W Crandall, C Langton, C Landers, KD Taylor, SR Targan, JI Rotter, J Markowitz, J Hyams, , ,
Publication Date: 2008-10

Variant appearance in text: N/A
PMID: 18619921
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Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's disease.

Gut
RN Baldassano, JP Bradfield, DS Monos, CE Kim, JT Glessner, T Casalunovo, EC Frackelton, FG Otieno, S Kanterakis, JL Shaner, RM Smith, AW Eckert, LJ Robinson, CC Onyiah, DJ Abrams, RM Chiavacci, R Skraban, M Devoto, SF Grant, H Hakonarson
Publication Date: 2007-08

Variant appearance in text: rs2066845
PMID: 17625155
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Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.

Nature Genetics
M Parkes, JC Barrett, NJ Prescott, M Tremelling, CA Anderson, SA Fisher, RG Roberts, ER Nimmo, FR Cummings, D Soars, H Drummond, CW Lees, SA Khawaja, R Bagnall, DA Burke, CE Todhunter, T Ahmad, CM Onnie, W McArdle, D Strachan, G Bethel, C Bryan, CM Lewis, P Deloukas, A Forbes, J Sanderson, DP Jewell, J Satsangi, JC Mansfield, , L Cardon, CG Mathew
Publication Date: 2007-07

Variant appearance in text: rs2066845
PMID: 17554261
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Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.

Bmc Medical Genetics
DJ Smyth, JM Howson, F Payne, LM Maier, R Bailey, K Holland, CE Lowe, JD Cooper, JS Hulme, A Vella, I Dahlman, AC Lam, S Nutland, NM Walker, RC Twells, JA Todd
Publication Date: 2006-03-06

Variant appearance in text: rs2066845
PMID: 16519819
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000300589.2 c.2722G>T p.Gly908Cys missense_variant 8/12 -
ENST00000524712.1 c.*35G>T - 3_prime_UTR_variant,NMD_transcript_variant 2/3 -
ENST00000527052.1 c.*7G>T - 3_prime_UTR_variant,NMD_transcript_variant 2/3 -
ENST00000529633.1 c.*119G>T - 3_prime_UTR_variant,NMD_transcript_variant 3/4 -
ENST00000534057.1 c.358G>T p.Gly120Cys missense_variant 4/5 -
ENST00000534067.1 c.*271G>T - 3_prime_UTR_variant,NMD_transcript_variant 2/3 -
NM_001293557.2 c.2641G>T p.Gly881Cys missense_variant 7/11 -
NM_001370466.1 c.2641G>T p.Gly881Cys missense_variant 8/12 -
NM_022162.3 c.2722G>T p.Gly908Cys missense_variant 8/12 -
NR_163434.1 n.2853G>T - non_coding_transcript_exon_variant 9/13 -