marginal zone b-cell lymphoma |
Disease ID | 653 |
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Disease | marginal zone b-cell lymphoma |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0002665 | Lymphoma | 4 HP:0012191 | B-cell lymphoma | 2 HP:0001369 | Arthritis | 1 HP:0100727 | Histiocytosis | 1 HP:0011034 | Amyloid disease | 1 HP:0001370 | Rheumatoid arthritis | 1 |
Disease ID | 653 |
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Disease | marginal zone b-cell lymphoma |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:42) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs1494555 | 20952689 | 7124 | TNF | umls:C0242647 | BeFree | After stratification by common B-cell lymphoma subtypes, a significant interaction was observed for IFNGR2 (rs9808753 P(forinteraction) = .006), IL13 (rs20541 P(forinteraction) = .019), and IL7R (rs1494555 P(forinteraction) = .012) for marginal zone B-cell lymphoma; IL7R (rs1494555 P(forinteraction) = .017) for small lymphocytic lymphoma/chronic lymphocytic leukemia; and IL12A (rs568408 P(forinteraction) = .013) and TNF (1799724 P(forinteraction) = .04) for follicular lymphoma. | 0.005634266 | 2011 | IL7R | 5 | 35871088 | G | A |
rs20541 | 20952689 | 7124 | TNF | umls:C0242647 | BeFree | After stratification by common B-cell lymphoma subtypes, a significant interaction was observed for IFNGR2 (rs9808753 P(forinteraction) = .006), IL13 (rs20541 P(forinteraction) = .019), and IL7R (rs1494555 P(forinteraction) = .012) for marginal zone B-cell lymphoma; IL7R (rs1494555 P(forinteraction) = .017) for small lymphocytic lymphoma/chronic lymphocytic leukemia; and IL12A (rs568408 P(forinteraction) = .013) and TNF (1799724 P(forinteraction) = .04) for follicular lymphoma. | 0.005634266 | 2011 | IL13 | 5 | 132660272 | A | G |
rs2922994 | 25569183 | 3106 | HLA-B | umls:C1367654 | BeFree | Here we perform a two-stage GWAS of 1,281 MZL cases and 7,127 controls of European ancestry and identify two independent loci near BTNL2 (rs9461741, P=3.95 × 10(-15)) and HLA-B (rs2922994, P=2.43 × 10(-9)) in the HLA region significantly associated with MZL risk. | 0.000271442 | 2014 | NA | 6 | 31368124 | A | G |
rs2922994 | 25569183 | 56244 | BTNL2 | umls:C1367654 | BeFree | Here we perform a two-stage GWAS of 1,281 MZL cases and 7,127 controls of European ancestry and identify two independent loci near BTNL2 (rs9461741, P=3.95 × 10(-15)) and HLA-B (rs2922994, P=2.43 × 10(-9)) in the HLA region significantly associated with MZL risk. | 0.120271442 | 2014 | NA | 6 | 31368124 | A | G |
rs2922994 | 25569183 | 3106 | HLA-B | umls:C0242647 | BeFree | Here we perform a two-stage GWAS of 1,281 MZL cases and 7,127 controls of European ancestry and identify two independent loci near BTNL2 (rs9461741, P=3.95 × 10(-15)) and HLA-B (rs2922994, P=2.43 × 10(-9)) in the HLA region significantly associated with MZL risk. | 0.000271442 | 2014 | NA | 6 | 31368124 | A | G |
rs2922994 | 25569183 | 56244 | BTNL2 | umls:C0242647 | BeFree | Here we perform a two-stage GWAS of 1,281 MZL cases and 7,127 controls of European ancestry and identify two independent loci near BTNL2 (rs9461741, P=3.95 × 10(-15)) and HLA-B (rs2922994, P=2.43 × 10(-9)) in the HLA region significantly associated with MZL risk. | 0.120271442 | 2014 | NA | 6 | 31368124 | A | G |
rs344550 | 22170086 | 347734 | SLC35B2 | umls:C0242647 | BeFree | Additionally, SNPs (C2 rs497309, A>C and C3 rs344550, G>C) in two complement genes were positively associated with marginal zone lymphoma (MZL) and C1QG was associated with CLL/SLL, but these results were based on a limited number of cases. | 0.000814326 | 2012 | C3 | 19 | 6682942 | C | G |
rs344550 | 22170086 | 714 | C1QC | umls:C1367654 | BeFree | Additionally, SNPs (C2 rs497309, A>C and C3 rs344550, G>C) in two complement genes were positively associated with marginal zone lymphoma (MZL) and C1QG was associated with CLL/SLL, but these results were based on a limited number of cases. | 0.000271442 | 2012 | C3 | 19 | 6682942 | C | G |
rs344550 | 22170086 | 714 | C1QC | umls:C0242647 | BeFree | Additionally, SNPs (C2 rs497309, A>C and C3 rs344550, G>C) in two complement genes were positively associated with marginal zone lymphoma (MZL) and C1QG was associated with CLL/SLL, but these results were based on a limited number of cases. | 0.000271442 | 2012 | C3 | 19 | 6682942 | C | G |
rs344550 | 22170086 | 347734 | SLC35B2 | umls:C1367654 | BeFree | Additionally, SNPs (C2 rs497309, A>C and C3 rs344550, G>C) in two complement genes were positively associated with marginal zone lymphoma (MZL) and C1QG was associated with CLL/SLL, but these results were based on a limited number of cases. | 0.000271442 | 2012 | C3 | 19 | 6682942 | C | G |
rs387906350 | NA | 8915 | BCL10 | umls:C0242647 | CLINVAR | NA | 0.149636822 | NA | BCL10 | 1 | 85267829 | - | A |
rs387907272 | 25972321 | 4615 | MYD88 | umls:C1367654 | BeFree | The most distinguishing features of LPL with respect to MZL were focal paratrabecular involvement (P < .001), the presence of lymphoplasmacytoid cells (P < .001) and Dutcher bodies (P < .001), increased numbers of mast cells (P < .001), and the MYD88 L265P mutation (P < .001). | 0.001628651 | 2015 | MYD88 | 3 | 38141150 | T | C |
rs387907272 | 26230596 | 4615 | MYD88 | umls:C0242647 | BeFree | Thus, pyrosequencing for the MYD88 L265P mutation demonstrates a high clinical sensitivity and specificity to distinguish LPL from MZL and CLL. | 0.001628651 | 2015 | MYD88 | 3 | 38141150 | T | C |
rs387907272 | 25723115 | 4615 | MYD88 | umls:C1367654 | BeFree | MYD88 (L265P) somatic mutation in marginal zone B-cell lymphoma. | 0.001628651 | 2015 | MYD88 | 3 | 38141150 | T | C |
rs387907272 | 26230596 | 4615 | MYD88 | umls:C1367654 | BeFree | Thus, pyrosequencing for the MYD88 L265P mutation demonstrates a high clinical sensitivity and specificity to distinguish LPL from MZL and CLL. | 0.001628651 | 2015 | MYD88 | 3 | 38141150 | T | C |
rs387907272 | 25819228 | 4615 | MYD88 | umls:C1367654 | BeFree | MYD88 L265P was found in 49/51 (96%) LPL cases and in 1/13 (7·6%) MZL (splenic type), whereas all CLL samples remained negative. | 0.001628651 | 2015 | MYD88 | 3 | 38141150 | T | C |
rs387907272 | 22944768 | 4615 | MYD88 | umls:C1367654 | BeFree | IGHV gene features and MYD88 L265P mutation separate the three marginal zone lymphoma entities and Waldenström macroglobulinemia/lymphoplasmacytic lymphomas. | 0.001628651 | 2013 | MYD88 | 3 | 38141150 | T | C |
rs387907272 | 25819228 | 4615 | MYD88 | umls:C0242647 | BeFree | MYD88 L265P was found in 49/51 (96%) LPL cases and in 1/13 (7·6%) MZL (splenic type), whereas all CLL samples remained negative. | 0.001628651 | 2015 | MYD88 | 3 | 38141150 | T | C |
rs387907272 | 25723115 | 4615 | MYD88 | umls:C0242647 | BeFree | MYD88 (L265P) somatic mutation in marginal zone B-cell lymphoma. | 0.001628651 | 2015 | MYD88 | 3 | 38141150 | T | C |
rs387907272 | 25972321 | 4615 | MYD88 | umls:C0242647 | BeFree | The most distinguishing features of LPL with respect to MZL were focal paratrabecular involvement (P < .001), the presence of lymphoplasmacytoid cells (P < .001) and Dutcher bodies (P < .001), increased numbers of mast cells (P < .001), and the MYD88 L265P mutation (P < .001). | 0.001628651 | 2015 | MYD88 | 3 | 38141150 | T | C |
rs387907272 | 22944768 | 4615 | MYD88 | umls:C0242647 | BeFree | IGHV gene features and MYD88 L265P mutation separate the three marginal zone lymphoma entities and Waldenström macroglobulinemia/lymphoplasmacytic lymphomas. | 0.001628651 | 2013 | MYD88 | 3 | 38141150 | T | C |
rs497309 | 22170086 | 714 | C1QC | umls:C0242647 | BeFree | Additionally, SNPs (C2 rs497309, A>C and C3 rs344550, G>C) in two complement genes were positively associated with marginal zone lymphoma (MZL) and C1QG was associated with CLL/SLL, but these results were based on a limited number of cases. | 0.000271442 | 2012 | C2 | 6 | 31924707 | A | C |
rs497309 | 22170086 | 347734 | SLC35B2 | umls:C1367654 | BeFree | Additionally, SNPs (C2 rs497309, A>C and C3 rs344550, G>C) in two complement genes were positively associated with marginal zone lymphoma (MZL) and C1QG was associated with CLL/SLL, but these results were based on a limited number of cases. | 0.000271442 | 2012 | C2 | 6 | 31924707 | A | C |
rs497309 | 22170086 | 714 | C1QC | umls:C1367654 | BeFree | Additionally, SNPs (C2 rs497309, A>C and C3 rs344550, G>C) in two complement genes were positively associated with marginal zone lymphoma (MZL) and C1QG was associated with CLL/SLL, but these results were based on a limited number of cases. | 0.000271442 | 2012 | C2 | 6 | 31924707 | A | C |
rs497309 | 22170086 | 347734 | SLC35B2 | umls:C0242647 | BeFree | Additionally, SNPs (C2 rs497309, A>C and C3 rs344550, G>C) in two complement genes were positively associated with marginal zone lymphoma (MZL) and C1QG was associated with CLL/SLL, but these results were based on a limited number of cases. | 0.000814326 | 2012 | C2 | 6 | 31924707 | A | C |
rs4986790 | 16971956 | 7099 | TLR4 | umls:C0242647 | BeFree | Furthermore, the TLR4 Asp299Gly variant was positively associated with the risk of mucosa-associated lymphoid tissue lymphoma (OR=2.76, 95% CI=1.12-6.81) and HL (OR=1.80, 95% CI=0.99-3.26). | 0.005634266 | 2006 | TLR4 | 9 | 117713024 | A | G |
rs4986790 | 17086894 | 7099 | TLR4 | umls:C0242647 | BeFree | Genotyping for CD14 (-159C/T) and TLR4 (Asp 299Gly and Thr 399Ile) was performed in 70 patients with gastric mucosa-associated lymphoid tissue lymphoma (MALToma), 204 patients with non-cardia gastric adenocarcinoma (GAC), and 210 unrelated healthy controls. | 0.005634266 | 2006 | TLR4 | 9 | 117713024 | A | G |
rs4986791 | 17086894 | 7099 | TLR4 | umls:C0242647 | BeFree | Genotyping for CD14 (-159C/T) and TLR4 (Asp 299Gly and Thr 399Ile) was performed in 70 patients with gastric mucosa-associated lymphoid tissue lymphoma (MALToma), 204 patients with non-cardia gastric adenocarcinoma (GAC), and 210 unrelated healthy controls. | 0.005634266 | 2006 | TLR4 | 9 | 117713324 | C | T |
rs568408 | 20952689 | 7124 | TNF | umls:C0242647 | BeFree | After stratification by common B-cell lymphoma subtypes, a significant interaction was observed for IFNGR2 (rs9808753 P(forinteraction) = .006), IL13 (rs20541 P(forinteraction) = .019), and IL7R (rs1494555 P(forinteraction) = .012) for marginal zone B-cell lymphoma; IL7R (rs1494555 P(forinteraction) = .017) for small lymphocytic lymphoma/chronic lymphocytic leukemia; and IL12A (rs568408 P(forinteraction) = .013) and TNF (1799724 P(forinteraction) = .04) for follicular lymphoma. | 0.005634266 | 2011 | IL12A;IL12A-AS1 | 3 | 159995680 | G | A |
rs587776630 | NA | 8915 | BCL10 | umls:C0242647 | CLINVAR | NA | 0.149636822 | NA | BCL10 | 1 | 85270801 | - | T |
rs587776631 | NA | 8915 | BCL10 | umls:C0242647 | CLINVAR | NA | 0.149636822 | NA | BCL10 | 1 | 85270619 | T | - |
rs928883 | 22347493 | 406947 | MIR155 | umls:C1367654 | BeFree | Variant rs928883, near miR-155, showed an association (OR per A-allele: 2.80 [95% CI: 1.63-4.82]; p(F) = 0.027) with marginal zone lymphoma that is significant after correction for multiple testing. | 0.000271442 | 2012 | MIR155HG;LOC105372754 | 21 | 25571713 | A | G |
rs928883 | 22347493 | 406947 | MIR155 | umls:C0242647 | BeFree | Variant rs928883, near miR-155, showed an association (OR per A-allele: 2.80 [95% CI: 1.63-4.82]; p(F) = 0.027) with marginal zone lymphoma that is significant after correction for multiple testing. | 0.000814326 | 2012 | MIR155HG;LOC105372754 | 21 | 25571713 | A | G |
rs9461741 | 25569183 | 3106 | HLA-B | umls:C0242647 | BeFree | Here we perform a two-stage GWAS of 1,281 MZL cases and 7,127 controls of European ancestry and identify two independent loci near BTNL2 (rs9461741, P=3.95 × 10(-15)) and HLA-B (rs2922994, P=2.43 × 10(-9)) in the HLA region significantly associated with MZL risk. | 0.000271442 | 2014 | BTNL2;LOC101929163 | 6 | 32402810 | G | C |
rs9461741 | 25569183 | 3106 | HLA-B | umls:C1367654 | BeFree | Here we perform a two-stage GWAS of 1,281 MZL cases and 7,127 controls of European ancestry and identify two independent loci near BTNL2 (rs9461741, P=3.95 × 10(-15)) and HLA-B (rs2922994, P=2.43 × 10(-9)) in the HLA region significantly associated with MZL risk. | 0.000271442 | 2014 | BTNL2;LOC101929163 | 6 | 32402810 | G | C |
rs9461741 | 25569183 | 56244 | BTNL2 | umls:C0242647 | BeFree | Here we perform a two-stage GWAS of 1,281 MZL cases and 7,127 controls of European ancestry and identify two independent loci near BTNL2 (rs9461741, P=3.95 × 10(-15)) and HLA-B (rs2922994, P=2.43 × 10(-9)) in the HLA region significantly associated with MZL risk. | 0.120271442 | 2014 | BTNL2;LOC101929163 | 6 | 32402810 | G | C |
rs9461741 | 25569183 | 101929163 | LOC101929163 | umls:C0242647 | GWASCAT | A genome-wide association study of marginal zone lymphoma shows association to the HLA region. | 0.12 | 2014 | BTNL2;LOC101929163 | 6 | 32402810 | G | C |
rs9461741 | 25569183 | 56244 | BTNL2 | umls:C1367654 | GWASCAT | Here we perform a two-stage GWAS of 1,281 MZL cases and 7,127 controls of European ancestry and identify two independent loci near BTNL2 (rs9461741, P=3.95 × 10(-15)) and HLA-B (rs2922994, P=2.43 × 10(-9)) in the HLA region significantly associated with MZL risk. | 0.120271442 | 2014 | BTNL2;LOC101929163 | 6 | 32402810 | G | C |
rs9461741 | 25569183 | 56244 | BTNL2 | umls:C1367654 | BeFree | Here we perform a two-stage GWAS of 1,281 MZL cases and 7,127 controls of European ancestry and identify two independent loci near BTNL2 (rs9461741, P=3.95 × 10(-15)) and HLA-B (rs2922994, P=2.43 × 10(-9)) in the HLA region significantly associated with MZL risk. | 0.120271442 | 2014 | BTNL2;LOC101929163 | 6 | 32402810 | G | C |
rs9461741 | 25569183 | 56244 | BTNL2 | umls:C0242647 | GWASCAT | Here we perform a two-stage GWAS of 1,281 MZL cases and 7,127 controls of European ancestry and identify two independent loci near BTNL2 (rs9461741, P=3.95 × 10(-15)) and HLA-B (rs2922994, P=2.43 × 10(-9)) in the HLA region significantly associated with MZL risk. | 0.120271442 | 2014 | BTNL2;LOC101929163 | 6 | 32402810 | G | C |
rs9461741 | 25569183 | 101929163 | LOC101929163 | umls:C1367654 | GWASCAT | A genome-wide association study of marginal zone lymphoma shows association to the HLA region. | 0.12 | 2014 | BTNL2;LOC101929163 | 6 | 32402810 | G | C |
rs9808753 | 20952689 | 7124 | TNF | umls:C0242647 | BeFree | After stratification by common B-cell lymphoma subtypes, a significant interaction was observed for IFNGR2 (rs9808753 P(forinteraction) = .006), IL13 (rs20541 P(forinteraction) = .019), and IL7R (rs1494555 P(forinteraction) = .012) for marginal zone B-cell lymphoma; IL7R (rs1494555 P(forinteraction) = .017) for small lymphocytic lymphoma/chronic lymphocytic leukemia; and IL12A (rs568408 P(forinteraction) = .013) and TNF (1799724 P(forinteraction) = .04) for follicular lymphoma. | 0.005634266 | 2011 | IFNGR2 | 21 | 33415005 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Chemical(Total Drugs:2) | |||||||||
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CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0242647 | pantoprazole | C064276 | 102625-70-7 | lymphoma, b-cell, marginal zone | MESH:D018442 | therapeutic | 17475611 | ||
C0242647 | tramadol | D014147 | 27203-92-5 | lymphoma, b-cell, marginal zone | MESH:D018442 | therapeutic | 17475611 |
FDA approved drug and dosage information(Total Drugs:0) | |
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(Waiting for update.) |
FDA labeling changes(Total Drugs:0) | |
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(Waiting for update.) |