eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| b-cell lymphomas | ||||
| Disease ID | 461 |
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| Disease | b-cell lymphomas |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0042769 | viral infection |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:12) C0009450 | infection | 20 C0001125 | lactic acidosis | 4 C0024291 | hemophagocytic syndrome | 4 C0032285 | pneumonia | 3 C0007570 | celiac disease | 2 C0020437 | hypercalcemia | 2 C0017531 | castleman's disease | 1 C0038362 | stomatitis | 1 C0022660 | acute renal failure | 1 C0175816 | cold agglutinin disease | 1 C0004135 | ataxia telangiectasia | 1 C0042769 | virus infection | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:39) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104893626 | 24711662 | 7852 | CXCR4 | umls:C0079731 | BeFree | We screened 418 patients with B-cell lymphoproliferative disorders and described the presence of the C1013G/CXCR4 warts, hypogammaglobulinemia, infections, and myelokathexis-associated mutation in 28.2% (37/131) of patients with lymphoplasmacytic lymphoma (Waldenström macroglobulinemia [WM]), being either absent or present in only 7% of other B-cell lymphomas. | 0.000542884 | 2014 | CXCR4;LOC105373632 | 2 | 136114915 | G | C |
| rs1053023 | 21418178 | 6774 | STAT3 | umls:C0079731 | BeFree | At a study-wise significance level, we obtained a risk reduction of 28% among carriers of the heterozygous genotype of the STAT3 variant (rs1053023) for B-NHL. | 0.013340378 | 2011 | STAT3 | 17 | 42313598 | T | C |
| rs1056836 | 16985026 | 1545 | CYP1B1 | umls:C0079731 | BeFree | Subjects who were heterozygous or homozygous for the cytochrome P450 gene variant CYP1B1 V432L G allele were at slightly greater risk of non-Hodgkin's lymphoma [odds ratio (OR), 1.27; 95% confidence interval (95% CI), 0.97-1.65]; these results were consistent across B-cell lymphoma subtypes and among both non-Hispanic White and Black subjects, although not statistically significant. | 0.000271442 | 2006 | CYP1B1 | 2 | 38071060 | G | C |
| rs113488022 | 26071465 | 673 | BRAF | umls:C0079731 | BeFree | Immunohistochemistry for BRAF V600E in the Differential Diagnosis of Hairy Cell Leukemia vs Other Splenic B-Cell Lymphomas. | 0.001357209 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22575864 | 4893 | NRAS | umls:C0079731 | BeFree | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in three germinal center diffuse large B-cell lymphomas, K601N in two germinal center diffuse large B-cell lymphomas, and V600E in one non-germinal center diffuse large B-cell lymphoma) and of the NRAS gene in two (8%) non-germinal center diffuse large B-cell lymphomas (Q61K and Q61H). | 0.120271442 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22246856 | 673 | BRAF | umls:C0079731 | BeFree | Here, we confirm the specificity of BRAF V600E for HCL among low and intermediate grade B-NHL and describe a real-time polymerase chain reaction method for detecting this mutation in cases with low tumour burden. | 0.001357209 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25480661 | 673 | BRAF | umls:C0079731 | BeFree | BRAF-V600E is the key driver mutation in HCL and distinguishes it from other B-cell lymphomas, including HCL-like leukemias/lymphomas (HCL-variant and splenic marginal zone lymphoma). | 0.001357209 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22575864 | 673 | BRAF | umls:C0079731 | BeFree | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in three germinal center diffuse large B-cell lymphomas, K601N in two germinal center diffuse large B-cell lymphomas, and V600E in one non-germinal center diffuse large B-cell lymphoma) and of the NRAS gene in two (8%) non-germinal center diffuse large B-cell lymphomas (Q61K and Q61H). | 0.001357209 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs121913254 | 22575864 | 673 | BRAF | umls:C0079731 | BeFree | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in three germinal center diffuse large B-cell lymphomas, K601N in two germinal center diffuse large B-cell lymphomas, and V600E in one non-germinal center diffuse large B-cell lymphoma) and of the NRAS gene in two (8%) non-germinal center diffuse large B-cell lymphomas (Q61K and Q61H). | 0.001357209 | 2012 | NRAS | 1 | 114713909 | G | T,C |
| rs121913254 | 22575864 | 4893 | NRAS | umls:C0079731 | BeFree | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in three germinal center diffuse large B-cell lymphomas, K601N in two germinal center diffuse large B-cell lymphomas, and V600E in one non-germinal center diffuse large B-cell lymphoma) and of the NRAS gene in two (8%) non-germinal center diffuse large B-cell lymphomas (Q61K and Q61H). | 0.120271442 | 2012 | NRAS | 1 | 114713909 | G | T,C |
| rs121913255 | 22575864 | 4893 | NRAS | umls:C0079731 | BeFree | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in three germinal center diffuse large B-cell lymphomas, K601N in two germinal center diffuse large B-cell lymphomas, and V600E in one non-germinal center diffuse large B-cell lymphoma) and of the NRAS gene in two (8%) non-germinal center diffuse large B-cell lymphomas (Q61K and Q61H). | 0.120271442 | 2012 | NRAS | 1 | 114713907 | T | A |
| rs121913255 | 22575864 | 673 | BRAF | umls:C0079731 | BeFree | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in three germinal center diffuse large B-cell lymphomas, K601N in two germinal center diffuse large B-cell lymphomas, and V600E in one non-germinal center diffuse large B-cell lymphoma) and of the NRAS gene in two (8%) non-germinal center diffuse large B-cell lymphomas (Q61K and Q61H). | 0.001357209 | 2012 | NRAS | 1 | 114713907 | T | A |
| rs121913338 | 22575864 | 4893 | NRAS | umls:C0079731 | BeFree | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in three germinal center diffuse large B-cell lymphomas, K601N in two germinal center diffuse large B-cell lymphomas, and V600E in one non-germinal center diffuse large B-cell lymphoma) and of the NRAS gene in two (8%) non-germinal center diffuse large B-cell lymphomas (Q61K and Q61H). | 0.120271442 | 2012 | BRAF | 7 | 140753354 | T | C,A |
| rs121913338 | 22575864 | 673 | BRAF | umls:C0079731 | BeFree | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in three germinal center diffuse large B-cell lymphomas, K601N in two germinal center diffuse large B-cell lymphomas, and V600E in one non-germinal center diffuse large B-cell lymphoma) and of the NRAS gene in two (8%) non-germinal center diffuse large B-cell lymphomas (Q61K and Q61H). | 0.001357209 | 2012 | BRAF | 7 | 140753354 | T | C,A |
| rs121913365 | 22575864 | 4893 | NRAS | umls:C0079731 | BeFree | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in three germinal center diffuse large B-cell lymphomas, K601N in two germinal center diffuse large B-cell lymphomas, and V600E in one non-germinal center diffuse large B-cell lymphoma) and of the NRAS gene in two (8%) non-germinal center diffuse large B-cell lymphomas (Q61K and Q61H). | 0.120271442 | 2012 | BRAF | 7 | 140753332 | T | G |
| rs121913365 | 22575864 | 673 | BRAF | umls:C0079731 | BeFree | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in three germinal center diffuse large B-cell lymphomas, K601N in two germinal center diffuse large B-cell lymphomas, and V600E in one non-germinal center diffuse large B-cell lymphoma) and of the NRAS gene in two (8%) non-germinal center diffuse large B-cell lymphomas (Q61K and Q61H). | 0.001357209 | 2012 | BRAF | 7 | 140753332 | T | G |
| rs1494555 | 20952689 | 3567 | IL5 | umls:C0079731 | BeFree | A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034) and IL7R (rs1494555 P(forinteraction) = .016) for NHL overall; IL7R (rs1494555 P(forinteraction) = .016) and TNF (1799724 P(forinteraction) = .031) for B-cell lymphoma; and IL5 (rs2069812 P(forinteraction) = .034) for T-cell lymphoma. | 0.003267234 | 2011 | IL7R | 5 | 35871088 | G | A |
| rs1494555 | 20952689 | 7124 | TNF | umls:C0079731 | BeFree | A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034) and IL7R (rs1494555 P(forinteraction) = .016) for NHL overall; IL7R (rs1494555 P(forinteraction) = .016) and TNF (1799724 P(forinteraction) = .031) for B-cell lymphoma; and IL5 (rs2069812 P(forinteraction) = .034) for T-cell lymphoma. | 0.009901391 | 2011 | IL7R | 5 | 35871088 | G | A |
| rs1799725 | 16543247 | 6648 | SOD2 | umls:C0079731 | BeFree | In an analysis of manganese superoxide dismutase (SOD2 Val16Ala, rs1799725) Ala/Ala homozygotes, we observed moderately increased risks for B-cell lymphomas (OR=1.3, 95% CI=1.0-1.6; referent=Val/Val and Val/Ala) that was consistent across the B-cell subtypes. | 0.000271442 | 2006 | NA | NA | NA | NA | NA |
| rs1800477 | 22187149 | 596 | BCL2 | umls:C0079731 | BeFree | The purpose of the present study was to investigate the polymorphisms of -938C/A, Thr43Ala in anti-apoptotic B-cell lymphoma 2 gene (BCL2) and -248G/A in pro-apoptotic B-cell lymphoma 2-associated X protein gene (BAX) and to explore their role in influencing the susceptibility for development of esophageal cancer. | 0.097189629 | 2012 | BCL2 | 18 | 63318540 | C | T |
| rs1800629 | 23640160 | 7124 | TNF | umls:C0079731 | BeFree | TNF rs1800629, which was genotyped in only two of our studies, was also associated with B cell lymphoma (per-allele OR = 0.77, 95 % CI 0.64-0.91; p trend = 0.003), specifically DLBCL (per-allele OR = 0.69, 95 % CI 0.55-0.86; p trend = 0.001). | 0.009901391 | 2013 | TNF | 6 | 31575254 | G | A |
| rs1800629 | 22649007 | 3587 | IL10RA | umls:C0079731 | BeFree | Statistically significant interactions with blood transfusion were observed for IL10RA (rs9610) (P(forinteraction) = 0.003) and TNF (rs1800629) (P(forinteraction) = 0.012) for NHL overall and IL10RA (rs9610) (P(forinteraction) = 0.001) and TNF (rs1800629) (P(forinteraction) = 0.019) for B-cell lymphoma. | 0.000542884 | 2012 | TNF | 6 | 31575254 | G | A |
| rs1800629 | 22649007 | 7124 | TNF | umls:C0079731 | BeFree | Statistically significant interactions with blood transfusion were observed for IL10RA (rs9610) (P(forinteraction) = 0.003) and TNF (rs1800629) (P(forinteraction) = 0.012) for NHL overall and IL10RA (rs9610) (P(forinteraction) = 0.001) and TNF (rs1800629) (P(forinteraction) = 0.019) for B-cell lymphoma. | 0.009901391 | 2012 | TNF | 6 | 31575254 | G | A |
| rs1800896 | 23640160 | 3586 | IL10 | umls:C0079731 | BeFree | IL10 rs1800896 was associated with B cell lymphoma [per-allele odds ratio (OR) = 1.25, 95 % confidence interval (CI) 1.08-1.45; p trend = 0.003], specifically diffuse large B cell lymphoma (DLBCL) (per-allele OR = 1.29, 95 % CI 1.08-1.53; p trend = 0.004), as well as T cell lymphoma (per-allele OR = 1.44, 95 % CI 1.13-1.82; p trend = 0.003). | 0.015621533 | 2013 | IL10 | 1 | 206773552 | T | C |
| rs2069812 | 20952689 | 7124 | TNF | umls:C0079731 | BeFree | A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034) and IL7R (rs1494555 P(forinteraction) = .016) for NHL overall; IL7R (rs1494555 P(forinteraction) = .016) and TNF (1799724 P(forinteraction) = .031) for B-cell lymphoma; and IL5 (rs2069812 P(forinteraction) = .034) for T-cell lymphoma. | 0.009901391 | 2011 | IL5 | 5 | 132544224 | A | G |
| rs2069812 | 20952689 | 3567 | IL5 | umls:C0079731 | BeFree | A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034) and IL7R (rs1494555 P(forinteraction) = .016) for NHL overall; IL7R (rs1494555 P(forinteraction) = .016) and TNF (1799724 P(forinteraction) = .031) for B-cell lymphoma; and IL5 (rs2069812 P(forinteraction) = .034) for T-cell lymphoma. | 0.003267234 | 2011 | IL5 | 5 | 132544224 | A | G |
| rs386596107 | 16543247 | 6648 | SOD2 | umls:C0079731 | BeFree | In an analysis of manganese superoxide dismutase (SOD2 Val16Ala, rs1799725) Ala/Ala homozygotes, we observed moderately increased risks for B-cell lymphomas (OR=1.3, 95% CI=1.0-1.6; referent=Val/Val and Val/Ala) that was consistent across the B-cell subtypes. | 0.000271442 | 2006 | NA | NA | NA | NA | NA |
| rs387907272 | 25819228 | 4615 | MYD88 | umls:C0079731 | BeFree | In conclusion the detection of MYD88 L265P mutation in FFPE samples is reliable and useful for subtyping small B-cell lymphomas in BM biopsies. | 0.001357209 | 2015 | MYD88 | 3 | 38141150 | T | C |
| rs387907272 | 23955458 | 4615 | MYD88 | umls:C0079731 | BeFree | Although not entirely specific, MYD88 L265P is a useful adjunct for bone marrow diagnosis in separating LPL from other small B-cell lymphomas and plasma cell myeloma. | 0.001357209 | 2013 | MYD88 | 3 | 38141150 | T | C |
| rs387907272 | 24030746 | 4615 | MYD88 | umls:C0079731 | BeFree | Contrary to most cutaneous lymphomas that rarely harbor primary genetic alteration of their nodal histological equivalent, primary cutaneous large B-cell lymphoma, leg type seems to be a 'cutaneous counterpart' of activated B-cell-like diffuse large B-cell lymphoma with a similar cytogenetic profile and a high rate of MYD88 oncogenic L265P mutation. | 0.001357209 | 2013 | MYD88 | 3 | 38141150 | T | C |
| rs4880 | 16543247 | 6648 | SOD2 | umls:C0079731 | BeFree | In an analysis of manganese superoxide dismutase (SOD2 Val16Ala, rs1799725) Ala/Ala homozygotes, we observed moderately increased risks for B-cell lymphomas (OR=1.3, 95% CI=1.0-1.6; referent=Val/Val and Val/Ala) that was consistent across the B-cell subtypes. | 0.000271442 | 2006 | SOD2 | 6 | 159692840 | A | G |
| rs662 | 23651475 | 5444 | PON1 | umls:C0079731 | BeFree | Despite the fact that further confirmation is needed, this study shows that the PON1 GG genotype in rs662 polymorphism could be a risk factor for B-cell lymphomas. | 0.000271442 | 2013 | PON1 | 7 | 95308134 | T | C |
| rs6857600 | 21918980 | 9429 | ABCG2 | umls:C0079731 | BeFree | Carriers of the SNP rs6857600 minor allele in ABCG2 was associated with a decrease in risk of B-cell lymphoma (B-NHL) overall (p < 0.001). | 0.005720142 | 2012 | ABCG2 | 4 | 88144923 | C | T |
| rs78768932 | 23792636 | 596 | BCL2 | umls:C0079731 | BeFree | Among the mutations investigated, we previously found that PXN variant A127T in lung cancer cells enhanced cell proliferation and focal adhesion formation and colocalized with the anti-apoptotic protein B Cell Lymphoma 2 (BCL-2), which is known to localize to the mitochondria, among other sites. | 0.097189629 | 2014 | PXN | 12 | 120222977 | C | G,T |
| rs78768932 | 23792636 | 5829 | PXN | umls:C0079731 | BeFree | Among the mutations investigated, we previously found that PXN variant A127T in lung cancer cells enhanced cell proliferation and focal adhesion formation and colocalized with the anti-apoptotic protein B Cell Lymphoma 2 (BCL-2), which is known to localize to the mitochondria, among other sites. | 0.000271442 | 2014 | PXN | 12 | 120222977 | C | G,T |
| rs9610 | 22649007 | 7124 | TNF | umls:C0079731 | BeFree | Statistically significant interactions with blood transfusion were observed for IL10RA (rs9610) (P(forinteraction) = 0.003) and TNF (rs1800629) (P(forinteraction) = 0.012) for NHL overall and IL10RA (rs9610) (P(forinteraction) = 0.001) and TNF (rs1800629) (P(forinteraction) = 0.019) for B-cell lymphoma. | 0.009901391 | 2012 | IL10RA | 11 | 118001371 | G | A |
| rs9610 | 22649007 | 3587 | IL10RA | umls:C0079731 | BeFree | Statistically significant interactions with blood transfusion were observed for IL10RA (rs9610) (P(forinteraction) = 0.003) and TNF (rs1800629) (P(forinteraction) = 0.012) for NHL overall and IL10RA (rs9610) (P(forinteraction) = 0.001) and TNF (rs1800629) (P(forinteraction) = 0.019) for B-cell lymphoma. | 0.000542884 | 2012 | IL10RA | 11 | 118001371 | G | A |
| rs9808753 | 20952689 | 7124 | TNF | umls:C0079731 | BeFree | A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034) and IL7R (rs1494555 P(forinteraction) = .016) for NHL overall; IL7R (rs1494555 P(forinteraction) = .016) and TNF (1799724 P(forinteraction) = .031) for B-cell lymphoma; and IL5 (rs2069812 P(forinteraction) = .034) for T-cell lymphoma. | 0.009901391 | 2011 | IFNGR2 | 21 | 33415005 | A | G |
| rs9808753 | 20952689 | 3567 | IL5 | umls:C0079731 | BeFree | A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034) and IL7R (rs1494555 P(forinteraction) = .016) for NHL overall; IL7R (rs1494555 P(forinteraction) = .016) and TNF (1799724 P(forinteraction) = .031) for B-cell lymphoma; and IL5 (rs2069812 P(forinteraction) = .034) for T-cell lymphoma. | 0.003267234 | 2011 | IFNGR2 | 21 | 33415005 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:2) | |||||||||||||||||||||||||||||
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| CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
| 13 | 28197436 | rs7097 | C | T | rs7097 | 21471979 | 7.00E-06 | NA | 1.44 | [1.23-1.67] | 74 Japanese ancestry cases; 934 Japanese ancestry controls | Japanese(1008) | ALL(1008) | ASN(1008) | ALL(1008) | Large B-cell lymphoma | HPOID:0012191 | B-cell lymphoma | DOID:707 | B-cell lymphocytic neoplasm | D016403 | Lymphoma, Large B-Cell, Diffuse | NA | NA | Lymphoma | NA | Research Support, Non-U.S. Gov't | G | POLR1D |
| 14 | 103484825 | rs751837 | T | C | rs751837 | 21471979 | 3.00E-07 | NA | 3.51 | [2.13-5.88] | 74 Japanese ancestry cases; 934 Japanese ancestry controls | Japanese(1008) | ALL(1008) | ASN(1008) | ALL(1008) | Large B-cell lymphoma | HPOID:0012191 | B-cell lymphoma | DOID:707 | B-cell lymphocytic neoplasm | D016403 | Lymphoma, Large B-Cell, Diffuse | NA | NA | Lymphoma | NA | Research Support, Non-U.S. Gov't | C | CDC42BPB |
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.) |
| Disease ID | 461 |
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| Disease | b-cell lymphomas |
| Case | (Waiting for update.) |