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encyclopedia of Rare Disease Annotation for Precision Medicine



   waldenstrom macroglobulinemia
  

Disease ID 623
Disease waldenstrom macroglobulinemia
Definition
A lymphoproliferative disorder characterized by pleomorphic B-LYMPHOCYTES including PLASMA CELLS, with increased levels of monoclonal serum IMMUNOGLOBULIN M. There is lymphoplasmacytic cells infiltration into bone marrow and often other tissues, also known as lymphoplasmacytic lymphoma. Clinical features include ANEMIA; HEMORRHAGES; and hyperviscosity.
Synonym
[m]waldenstrom's macroglobulinaemia
[m]waldenstrom's macroglobulinaemia (disorder)
[m]waldenstrom's macroglobulinemia
lymphoma, lymphocytic, plasmacytoid
lymphoma, lymphoplasmacytoid
lymphomas, lymphoplasmacytoid
lymphoplasmacytic lymphoma
lymphoplasmacytoid lymphoma
lymphoplasmacytoid lymphomas
macroglobulinaemia
macroglobulinaemia nos
macroglobulinaemia, waldenstrom's
macroglobulinemia
macroglobulinemia (disorder)
macroglobulinemia nos
macroglobulinemia nos (disorder)
macroglobulinemia waldenstrom
macroglobulinemia waldenstrom's
macroglobulinemia waldenstroms
macroglobulinemia, primary
macroglobulinemia, waldenstrom
macroglobulinemia, waldenstrom's
plasmacytoma, macroglobulinemia
primary macroglobulinaemia
primary macroglobulinemia
waldenstrom macroglobulinaemia
waldenstrom macroglobulinemia [disease/finding]
waldenstrom's macroglob'naemia
waldenstrom's macroglobulinaemia
waldenstrom's macroglobulinemia
waldenstrom's macroglobulinemia (disorder)
waldenstrom's macroglobulinemia (morphologic abnormality)
waldenstroms macroglobulinaemia
waldenstroms macroglobulinemia
waldenström macroglobulinaemia
waldenström macroglobulinaemia (clinical)
waldenström macroglobulinemia
waldenström macroglobulinemia (clinical)
waldenström macroglobulinemia (disorder)
Orphanet
DOID
UMLS
C0024419
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:54)
C0024299  |  lymphoma  |  5
C0442874  |  neuropathy  |  3
C0085404  |  poems syndrome  |  3
C0040034  |  thrombocytopenia  |  2
C0002726  |  amyloidosis  |  2
C0030489  |  paraproteinemia  |  2
C0023434  |  lymphocytic lymphoma  |  1
C0035305  |  retinal detachment  |  1
C0015624  |  fanconi syndrome  |  1
C0030805  |  bullous pemphigoid  |  1
C0027726  |  nephrotic syndrome  |  1
C0040053  |  thrombosis  |  1
C0005940  |  bone disease  |  1
C0022658  |  nephropathy  |  1
C0020437  |  hypercalcaemia  |  1
C0024419  |  waldenstrom's macroglobulinemia  |  1
C0032461  |  polycythemia  |  1
C0035078  |  renal failure  |  1
C0281963  |  red cell aplasia  |  1
C0079744  |  diffuse large b-cell lymphoma  |  1
C0002736  |  amyotrophic lateral sclerosis  |  1
C0019196  |  hepatitis c infection  |  1
C0019829  |  hodgkin's lymphoma  |  1
C0242287  |  isaacs' syndrome  |  1
C0270612  |  leukoencephalopathy  |  1
C0027813  |  neuritis  |  1
C0242647  |  malt lymphoma  |  1
C0024790  |  paroxysmal nocturnal haemoglobinuria  |  1
C0040558  |  toxoplasmosis  |  1
C0019158  |  hepatitis  |  1
C0085315  |  cerebral toxoplasmosis  |  1
C0032463  |  polycythemia vera  |  1
C0037274  |  dermatosis  |  1
C0001418  |  adenocarcinoma  |  1
C0272286  |  immune thrombocytopenia  |  1
C0032285  |  pneumoniae  |  1
C0338106  |  colon adenocarcinoma  |  1
C0034902  |  pure red cell aplasia  |  1
C0033687  |  proteinuria  |  1
C0524988  |  schnitzler syndrome  |  1
C0023434  |  small lymphocytic lymphoma  |  1
C0006413  |  burkitt lymphoma  |  1
C0022116  |  ischemia  |  1
C0019196  |  hepatitis c  |  1
C0023524  |  progressive multifocal leukoencephalopathy  |  1
C0010403  |  cryoglobulinemia  |  1
C0030805  |  pemphigoid  |  1
C0035309  |  retinopathy  |  1
C0035328  |  retinal vein occlusion  |  1
C1565489  |  renal insufficiency  |  1
C0029134  |  optic neuritis  |  1
C0043194  |  wiskott-aldrich syndrome  |  1
C0079731  |  b-cell lymphoma  |  1
C2700641  |  lymphoplasmacytic lymphoma  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:1)
4615  |  MYD88  |  ORPHANET
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:7)
3036  |  HAS1  |  CIPHER
604  |  BCL6  |  CIPHER
7486  |  WRN  |  CIPHER
6387  |  CXCL12  |  CIPHER
3569  |  IL6  |  CIPHER
100188787  |  WM1  |  CTD_human
100188811  |  WM2  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:104)
2  |  A2M  |  1.849  |  DISEASES
8289  |  ARID1A  |  1.962  |  DISEASES
57492  |  ARID1B  |  1.818  |  DISEASES
9776  |  ATG13  |  1.639  |  DISEASES
567  |  B2M  |  3.464  |  DISEASES
567  |  B2M  |  2.202  |  DISEASES
9774  |  BCLAF1  |  1.367  |  DISEASES
23632  |  CA14  |  2.041  |  DISEASES
896  |  CCND3  |  1.555  |  DISEASES
930  |  CD19  |  4.296  |  DISEASES
930  |  CD19  |  3.483  |  DISEASES
912  |  CD1D  |  1.477  |  DISEASES
4345  |  CD200  |  2.975  |  DISEASES
958  |  CD40  |  1.691  |  DISEASES
958  |  CD40  |  1.239  |  DISEASES
959  |  CD40LG  |  6.954  |  DISEASES
959  |  CD40LG  |  5.305  |  DISEASES
921  |  CD5  |  4.577  |  DISEASES
921  |  CD5  |  4.181  |  DISEASES
1043  |  CD52  |  2.626  |  DISEASES
1043  |  CD52  |  2.578  |  DISEASES
966  |  CD59  |  1.77  |  DISEASES
922  |  CD5L  |  1.085  |  DISEASES
974  |  CD79B  |  3.063  |  DISEASES
974  |  CD79B  |  1.965  |  DISEASES
978  |  CDA  |  1.877  |  DISEASES
1038  |  CDR1  |  1.416  |  DISEASES
11200  |  CHEK2  |  1.17  |  DISEASES
1380  |  CR2  |  1.166  |  DISEASES
1506  |  CTRL  |  1.594  |  DISEASES
6387  |  CXCL12  |  2.25  |  DISEASES
4283  |  CXCL9  |  1.69  |  DISEASES
7852  |  CXCR4  |  4.148  |  DISEASES
7852  |  CXCR4  |  1.961  |  DISEASES
51428  |  DDX41  |  1.055  |  DISEASES
1847  |  DUSP5  |  2.564  |  DISEASES
1847  |  DUSP5  |  1.032  |  DISEASES
1850  |  DUSP8  |  1.186  |  DISEASES
2045  |  EPHA7  |  1.764  |  DISEASES
2152  |  F3  |  1.17  |  DISEASES
2331  |  FMOD  |  1.522  |  DISEASES
2335  |  FN1  |  1.381  |  DISEASES
53827  |  FXYD5  |  1.295  |  DISEASES
53827  |  FXYD5  |  1.047  |  DISEASES
100423062  |  IGLL5  |  1.509  |  DISEASES
3321  |  IGSF3  |  1.533  |  DISEASES
3570  |  IL6R  |  1.62  |  DISEASES
3654  |  IRAK1  |  2.895  |  DISEASES
3654  |  IRAK1  |  1.861  |  DISEASES
51135  |  IRAK4  |  1.609  |  DISEASES
3662  |  IRF4  |  2.166  |  DISEASES
3676  |  ITGA4  |  1.699  |  DISEASES
3831  |  KLC1  |  1.079  |  DISEASES
4067  |  LYN  |  1.347  |  DISEASES
4099  |  MAG  |  4.235  |  DISEASES
4082  |  MARCKS  |  1.589  |  DISEASES
4082  |  MARCKS  |  1.341  |  DISEASES
4289  |  MKLN1  |  2.262  |  DISEASES
10962  |  MLLT11  |  2.084  |  DISEASES
4311  |  MME  |  3.355  |  DISEASES
4311  |  MME  |  3.298  |  DISEASES
4332  |  MNDA  |  2.124  |  DISEASES
2475  |  MTOR  |  2.202  |  DISEASES
4582  |  MUC1  |  1.278  |  DISEASES
4615  |  MYD88  |  5.622  |  DISEASES
4615  |  MYD88  |  5.087  |  DISEASES
11188  |  NISCH  |  1.173  |  DISEASES
2649  |  NR6A1  |  1.627  |  DISEASES
142  |  PARP1  |  1.142  |  DISEASES
5079  |  PAX5  |  4.272  |  DISEASES
5079  |  PAX5  |  2.914  |  DISEASES
9260  |  PDLIM7  |  1.195  |  DISEASES
5236  |  PGM1  |  1.154  |  DISEASES
93183  |  PIGM  |  1.877  |  DISEASES
5336  |  PLCG2  |  1.474  |  DISEASES
57480  |  PLEKHG1  |  3.238  |  DISEASES
5447  |  POR  |  1.008  |  DISEASES
5475  |  PPEF1  |  3.44  |  DISEASES
639  |  PRDM1  |  2.436  |  DISEASES
639  |  PRDM1  |  2.124  |  DISEASES
5788  |  PTPRC  |  2.306  |  DISEASES
5788  |  PTPRC  |  1.933  |  DISEASES
6016  |  RIT1  |  1.38  |  DISEASES
6014  |  RIT2  |  1.067  |  DISEASES
6288  |  SAA1  |  1.169  |  DISEASES
5265  |  SERPINA1  |  1.084  |  DISEASES
347734  |  SLC35B2  |  3.487  |  DISEASES
347734  |  SLC35B2  |  2.09  |  DISEASES
6520  |  SLC3A2  |  1.173  |  DISEASES
6664  |  SOX11  |  1.372  |  DISEASES
23013  |  SPEN  |  1.099  |  DISEASES
6693  |  SPN  |  1.918  |  DISEASES
6693  |  SPN  |  1.209  |  DISEASES
6850  |  SYK  |  1.532  |  DISEASES
8115  |  TCL1A  |  1.97  |  DISEASES
8115  |  TCL1A  |  1.261  |  DISEASES
7018  |  TF  |  1.279  |  DISEASES
10673  |  TNFSF13B  |  2.649  |  DISEASES
7187  |  TRAF3  |  1.941  |  DISEASES
51377  |  UCHL5  |  2.321  |  DISEASES
127933  |  UHMK1  |  2.471  |  DISEASES
11169  |  WDHD1  |  1.297  |  DISEASES
340152  |  ZC3H12D  |  1.494  |  DISEASES
171392  |  ZNF675  |  1.812  |  DISEASES
Locus(Waiting for update.)
Disease ID 623
Disease waldenstrom macroglobulinemia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:29)
HP:0002665  |  Lymphoma  |  6
HP:0000083  |  Renal insufficiency  |  2
HP:0001873  |  Low platelet count  |  2
HP:0011034  |  Amyloid disease  |  2
HP:0002664  |  Neoplasia  |  2
HP:0012191  |  B-cell lymphoma  |  1
HP:0000100  |  Nephrosis  |  1
HP:0030080  |  Burkitt lymphoma  |  1
HP:0000112  |  Nephropathy  |  1
HP:0100778  |  Cryoglobulinemia  |  1
HP:0012189  |  Hodgkin disease  |  1
HP:0012593  |  Nephrotic range proteinuria  |  1
HP:0002202  |  Pleural effusion  |  1
HP:0002176  |  Spinal cord compression  |  1
HP:0000093  |  Proteinuria  |  1
HP:0007354  |  Amyotrophic lateral sclerosis  |  1
HP:0002719  |  infections, recurrent  |  1
HP:0001973  |  Autoimmune thrombocytopenia  |  1
HP:0003072  |  Hypercalcemia  |  1
HP:0000821  |  Underactive thyroid  |  1
HP:0012115  |  Liver inflammation  |  1
HP:0100653  |  Optic neuritis  |  1
HP:0002352  |  Leukoencephalopathy  |  1
HP:0004818  |  Paroxysmal nocturnal hemoglobinuria  |  1
HP:0000541  |  Detached retina  |  1
HP:0004420  |  Arterial thrombosis  |  1
HP:0012223  |  Ruptured spleen  |  1
HP:0003256  |  Coagulopathy  |  1
HP:0001901  |  Abnormally shaped erythrocytes  |  1
Disease ID 623
Disease waldenstrom macroglobulinemia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:10)
C1963220  |  pulmonary hypertension
C1962966  |  retinopathy
C1516669  |  clonal evolution
C1112306  |  adenoviral hepatitis
C0343524  |  disseminated nocardiosis
C0221030  |  hyperviscosity syndrome
C0154841  |  central retinal vein occlusion
C0085404  |  poems syndrome
C0079744  |  diffuse large b-cell lymphoma
C0033680  |  protein-losing enteropathy
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:6)
C0085404  |  poems syndrome  |  3
C0442874  |  neuropathy  |  2
C0270710  |  bing-neel syndrome  |  2
C0040034  |  thrombocytopenia  |  1
C1136085  |  monoclonal gammopathy  |  1
C0221030  |  hyperviscosity syndrome  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:37)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104893626249124317852CXCR4umls:C0024419BeFreeThe WHIM-like CXCR4(S338X) somatic mutation activates AKT and ERK, and promotes resistance to ibrutinib and other agents used in the treatment of Waldenstrom's Macroglobulinemia.0.0059816532014CXCR4;LOC1053736322136114915GC
rs104893626247116627852CXCR4umls:C0024419BeFreeC1013G/CXCR4 acts as a driver mutation of tumor progression and modulator of drug resistance in lymphoplasmacytic lymphoma.0.0059816532014CXCR4;LOC1053736322136114915GC
rs113488022246898484615MYD88umls:C0024419BeFreeThey include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia.0.1292290242014BRAF7140753336AT,G,C
rs1800890195730803586IL10umls:C0024419BeFreeWe confirmed previous studies showing a polymorphism in the IL10 promoter (rs1800890/-3575T>A) to be associated with non-Hodgkin lymphoma, as this allele was found to be associated with both CLL and WM.0.0002714422009IL101206776020AT
rs3136597195730808743TNFSF10umls:C0024419GAD[Polymorphisms in TNFSF10 were associated with both CLL and WM.]0.0026384742009TNFSF103172510754GT
rs371896760246898484615MYD88umls:C0024419BeFreeThey include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia.0.1292290242014ACAA1;MYD88338138714GT
rs387907272253713714615MYD88umls:C0024419BeFreeCXCR4 WHIM-like frameshift and nonsense mutations promote ibrutinib resistance but do not supplant MYD88(L265P) -directed survival signalling in Waldenström macroglobulinaemia cells.0.1292290242014MYD88338141150TC
rs387907272262305964615MYD88umls:C0024419BeFreeThis study confirms the strong association of the MYD88 L265P mutation with LPL, as well as the existence of rare cases of small B-cell lymphoma that complicate this association.0.1292290242015MYD88338141150TC
rs387907272246898484615MYD88umls:C0024419BeFreeThey include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia.0.1292290242014MYD88338141150TC
rs38790727223321251160364CLEC12Aumls:C0024419BeFreeUsing either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 (54%) IgM MGUS patients and was either absent or rarely expressed in samples from splenic marginal zone lymphoma (2/20; 10%), CLL (1/26; 4%), multiple myeloma (including IgM cases, 0/14), and immunoglobulin G MGUS (0/9) patients as well as healthy donors (0/40; P < 1.5 × 10(-5) for WM vs other cohorts).0.0002714422013MYD88338141150TC
rs387907272239554584615MYD88umls:C0024419BeFreeAlthough 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.0.1292290242013MYD88338141150TC
rs387907272252128917852CXCR4umls:C0024419BeFreeMYD88 L265P and CXCR4 WHIM mutations are common in WM and support the growth and survival of WM cells.0.0059816532015MYD88338141150TC
rs387907272229313164615MYD88umls:C0024419BeFreeMYD88 L265P somatic mutation in Waldenström's macroglobulinemia.0.1292290242012MYD88338141150TC
rs3879072722332125110584COLEC10umls:C0024419BeFreeUsing either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 (54%) IgM MGUS patients and was either absent or rarely expressed in samples from splenic marginal zone lymphoma (2/20; 10%), CLL (1/26; 4%), multiple myeloma (including IgM cases, 0/14), and immunoglobulin G MGUS (0/9) patients as well as healthy donors (0/40; P < 1.5 × 10(-5) for WM vs other cohorts).0.0002714422013MYD88338141150TC
rs387907272238365573654IRAK1umls:C0024419BeFreeThe results establish BTK as a downstream target of MYD88 L265P signaling, and provide a framework for the study of BTK inhibitors alone, and in combination with IRAK inhibitors for the treatment of WM.0.0005428842013MYD88338141150TC
rs387907272248955704615MYD88umls:C0024419BeFreeMYD88 L265P mutations are correlated with 6q deletion in Korean patients with Waldenström macroglobulinemia.0.1292290242014MYD88338141150TC
rs387907272233212514615MYD88umls:C0024419BeFreeMYD88 L265P in Waldenström macroglobulinemia, immunoglobulin M monoclonal gammopathy, and other B-cell lymphoproliferative disorders using conventional and quantitative allele-specific polymerase chain reaction.0.1292290242013MYD88338141150TC
rs387907272253713717852CXCR4umls:C0024419BeFreeCXCR4 WHIM-like frameshift and nonsense mutations promote ibrutinib resistance but do not supplant MYD88(L265P) -directed survival signalling in Waldenström macroglobulinaemia cells.0.0059816532014MYD88338141150TC
rs387907272248423164615MYD88umls:C0024419BeFreeDetection of MYD88 L265P mutations in formalin-fixed and decalcified BM biopsies from patients with lymphoplasmacytic lymphoma.0.1292290242014MYD88338141150TC
rs3879072722414300128395IGHV4-34umls:C0024419BeFreeThe absence of plasmacytoid cells, the presence of plasma cells predominantly outside the nodular lymphoid infiltrates, IGHV4-34 restriction and absence of MYD88 L265P mutation strongly suggest that cold agglutinin-associated lymphoproliferative disease is a distinct entity that is different from lymphoplasmacytic lymphoma.0.0002714422015MYD88338141150TC
rs387907272229447683492IGHumls:C0024419BeFreeIGHV gene features and MYD88 L265P mutation separate the three marginal zone lymphoma entities and Waldenström macroglobulinemia/lymphoplasmacytic lymphomas.0.0024429772013MYD88338141150TC
rs387907272233555354615MYD88umls:C0024419BeFreePrevalence and clinical significance of the MYD88 (L265P) somatic mutation in Waldenstrom's macroglobulinemia and related lymphoid neoplasms.0.1292290242013MYD88338141150TC
rs387907272237234434615MYD88umls:C0024419BeFreeA new era for Waldenstrom macroglobulinemia: MYD88 L265P.0.1292290242013MYD88338141150TC
rs387907272242240404615MYD88umls:C0024419BeFreeL265P mutation of the MYD88 gene is frequent in Waldenström's macroglobulinemia and its absence in myeloma.0.1292290242013MYD88338141150TC
rs387907272235327354615MYD88umls:C0024419BeFreeMYD88 L265P mutation in Waldenstrom macroglobulinemia.0.1292290242013MYD88338141150TC
rs387907272251976616520SLC3A2umls:C0024419BeFreeClonotypic analysis of immunoglobulin heavy chain sequences in patients with Waldenström's macroglobulinemia: correlation with MYD88 L265P somatic mutation status, clinical features, and outcome.0.0013572092014MYD88338141150TC
rs387907272241430014615MYD88umls:C0024419BeFreeThe absence of plasmacytoid cells, the presence of plasma cells predominantly outside the nodular lymphoid infiltrates, IGHV4-34 restriction and absence of MYD88 L265P mutation strongly suggest that cold agglutinin-associated lymphoproliferative disease is a distinct entity that is different from lymphoplasmacytic lymphoma.0.1292290242015MYD88338141150TC
rs387907272258537477852CXCR4umls:C0024419BeFreeMYD88(L265P) and CXCR4(WHIM) mutations are highly prevalent in Waldenström's macroglobulinemia.0.0059816532015MYD88338141150TC
rs38790727223836557695BTKumls:C0024419BeFreeA mutation in MYD88 (L265P) supports the survival of lymphoplasmacytic cells by activation of Bruton tyrosine kinase in Waldenström macroglobulinemia.0.0002714422013MYD88338141150TC
rs387907272251605584615MYD88umls:C0024419BeFreeThe MYD88 L265P mutation has been identified in the vast majority of patients with WM.0.1292290242014MYD88338141150TC
rs387907272229447684615MYD88umls:C0024419BeFreeIGHV gene features and MYD88 L265P mutation separate the three marginal zone lymphoma entities and Waldenström macroglobulinemia/lymphoplasmacytic lymphomas.0.1292290242013MYD88338141150TC
rs387907272253713716387CXCL12umls:C0024419BeFreeDirect inhibition of MYD88(L265P) signalling overcomes CXCL12 triggered survival effects in CXCR4(WHIM) -mutated cells supporting a primary role for this survival pathway in WM.0.0059057082014MYD88338141150TC
rs387907272251976614615MYD88umls:C0024419BeFreeClonotypic analysis of immunoglobulin heavy chain sequences in patients with Waldenström's macroglobulinemia: correlation with MYD88 L265P somatic mutation status, clinical features, and outcome.0.1292290242014MYD88338141150TC
rs387907272238365574615MYD88umls:C0024419BeFreeA mutation in MYD88 (L265P) supports the survival of lymphoplasmacytic cells by activation of Bruton tyrosine kinase in Waldenström macroglobulinemia.0.1292290242013MYD88338141150TC
rs387907272234463124615MYD88umls:C0024419BeFreeMYD88 L265P is a marker highly characteristic of, but not restricted to, Waldenström's macroglobulinemia.0.1292290242013MYD88338141150TC
rs387907272245096374615MYD88umls:C0024419BeFreeDetection of MYD88 L265P in peripheral blood of patients with Waldenström's Macroglobulinemia and IgM monoclonal gammopathy of undetermined significance.0.1292290242014MYD88338141150TC
rs387907272234739494615MYD88umls:C0024419BeFreeBeyond the discovery of the myeloid differentiation primary response gene 88 (MYD88) L265P mutation, which will help greatly in the differential characterization of WM from other B-cell low-grade lymphomas, several other mechanisms of gene deregulation were identified and mapped that recurrently pointed out nuclear factor-kappa B (NF-κB), breakpoint cluster region (BCR), and Toll-like receptor (TLR) signaling pathways as potential targets for a better understanding of the physiopathology of WM and for future drug development.0.1292290242013MYD88338141150TC
GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Disease ID 623
Disease waldenstrom macroglobulinemia
Case(Waiting for update.)