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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   burkitt lymphoma
  

Disease ID 297
Disease burkitt lymphoma
Definition
A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative.
Synonym
[m]burkitt's tumor
[m]burkitt's tumor nos
[m]burkitt's tumor nos (morphologic abnormality)
[m]burkitt's tumors
[m]burkitt's tumors (morphologic abnormality)
[m]burkitt's tumour
[m]burkitt's tumour nos
[m]burkitt's tumours
acute lymphoblastic leukaemia, burkitt's type
acute lymphoblastic leukaemia, mature b-cell type
acute lymphoblastic leukemia, burkitt's type
acute lymphoblastic leukemia, mature b-cell type
b all
b-all
b-cell acute lymphoblastic leukaemia
bl - burkitt's lymphoma
burkitt cell leukaemia
burkitt cell leukemia
burkitt cell leukemia (morphologic abnormality)
burkitt leukemia
burkitt lymphoma (morphologic abnormality)
burkitt lymphoma [disease/finding]
burkitt lymphoma, nos
burkitt lymphoma/leukaemia
burkitt lymphoma/leukemia
burkitt lymphoma/leukemia (morphologic abnormality)
burkitt lymphomas
burkitt tumor
burkitt tumor [obs]
burkitt tumour [obs]
burkitt's cell leukaemia
burkitt's cell leukemia
burkitt's leukaemia
burkitt's leukemia
burkitt's lymphoma
burkitt's lymphoma (clinical)
burkitt's lymphoma (disorder)
burkitt's lymphoma - disorder
burkitt's lymphoma nos
burkitt's lymphoma nos (disorder)
burkitt's lymphoma of unspecified site
burkitt's lymphoma of unspecified site (disorder)
burkitt's lymphoma, nos
burkitt's non-hodgkin's lymphoma
burkitt's tumor
burkitt's tumor [obs]
burkitt's tumor or lymphoma
burkitt's tumour
burkitt's tumour [obs]
burkitt's type malignant lymphoma - small non-cleaved
burkitt's type malignant lymphoma - undifferentiated
burkitts leukemia
burkitts lymphoma
burkitts tumor
cell leukemia, burkitt
fab l3
fab l3 [obs]
l3 acute lymphoblastic leukemia
l3 acute lymphocytic leukemia
l3 acute lymphogenous leukemia
l3 acute lymphoid leukemia
l3 lymphocytic leukemia
l3 lymphocytic leukemias
leukemia, burkitt
leukemia, burkitt cell
leukemia, burkitt's
leukemia, l3 lymphocytic
leukemia, lymphoblastic, burkitt-type
leukemia, lymphocytic, l3
leukemias, l3 lymphocytic
lymphocytic leukemia, l3
lymphocytic leukemias, l3
lymphoma, burkitt
lymphoma, burkitt's
malignant lymphoma, burkitt's type
malignant lymphoma, small noncleaved, burkitt's, diffuse
malignant lymphoma, undifferentiated, burkitt type [obs]
malignant lymphoma, undifferentiated, burkitt's type
nhl, burkitt's
non-hodgkin's lymphoma, burkitt's
small non-cleaved cell lymphoma, burkitt's type
tumor, burkitt
tumor, burkitt's
Orphanet
OMIM
DOID
UMLS
C0006413
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:55)
C0024299  |  lymphoma  |  5
C0079731  |  b-cell lymphoma  |  3
C0023418  |  leukemia  |  2
C0024530  |  malaria  |  2
C0024299  |  lymphomas  |  2
C0079731  |  b-cell lymphomas  |  2
C0006142  |  breast cancer  |  2
C0021933  |  intussusception  |  2
C0011334  |  caries  |  1
C0011334  |  dental caries  |  1
C0023470  |  myeloid leukemia  |  1
C0027051  |  myocardial infarct  |  1
C0151740  |  raised intracranial pressure  |  1
C0442874  |  neuropathy  |  1
C0007847  |  cervical cancer  |  1
C0019829  |  hodgkin lymphoma  |  1
C0085669  |  acute leukemia  |  1
C0020502  |  hyperparathyroidism  |  1
C0334634  |  mantle cell lymphoma  |  1
C0035078  |  renal failure  |  1
C0024437  |  age-related macular degeneration  |  1
C0037054  |  sickle cell trait  |  1
C0007113  |  rectal cancer  |  1
C0035455  |  rhinitis  |  1
C0242379  |  lung cancer  |  1
C0028326  |  noonan syndrome  |  1
C2607914  |  allergic rhinitis  |  1
C0175702  |  williams syndrome  |  1
C0020503  |  secondary hyperparathyroidism  |  1
C0013182  |  drug hypersensitivity  |  1
C0021359  |  infertility  |  1
C0162429  |  malnutrition  |  1
C0026946  |  fungal infection  |  1
C0302592  |  cervical ca  |  1
C0023467  |  acute myeloid leukemia  |  1
C0376358  |  prostate cancer  |  1
C0948201  |  alloimmunization  |  1
C0042769  |  virus infection  |  1
C0019196  |  hepatitis c  |  1
C0025149  |  medulloblastoma  |  1
C0021364  |  male infertility  |  1
C0023890  |  cirrhosis  |  1
C0024302  |  large cell lymphoma  |  1
C0009402  |  colorectal cancer  |  1
C0022660  |  acute renal failure  |  1
C0027051  |  myocardial infarction  |  1
C0242647  |  malt lymphoma  |  1
C0019158  |  hepatitis  |  1
C0001339  |  acute pancreatitis  |  1
C0024305  |  non-hodgkin lymphoma  |  1
C0040997  |  trigeminal neuralgia  |  1
C2700641  |  lymphoplasmacytic lymphoma  |  1
C0686377  |  cns metastasis  |  1
C0023418  |  leukaemia  |  1
C0019069  |  hemophilia  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:16)
6929  |  TCF3  |  CTD_human
5979  |  RET  |  CTD_human
4609  |  MYC  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
53947  |  A4GALT  |  CTD_human
5091  |  PC  |  CTD_human
8289  |  ARID1A  |  CTD_human
5087  |  PBX1  |  CTD_human
3399  |  ID3  |  CTD_human
6597  |  SMARCA4  |  CTD_human
83416  |  FCRL5  |  UNIPROT
10693  |  CCT6B  |  CTD_human
5295  |  PIK3R1  |  CTD_human
27164  |  SALL3  |  CTD_human
10841  |  FTCD  |  CTD_human
27113  |  BBC3  |  CTD_human
10672  |  GNA13  |  CTD_human
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:224)
25  |  ABL1  |  1.916  |  DISEASES
55966  |  AJAP1  |  1.073  |  DISEASES
238  |  ALK  |  1.824  |  DISEASES
84334  |  APOPT1  |  1.253  |  DISEASES
10564  |  ARFGEF2  |  1.202  |  DISEASES
8289  |  ARID1A  |  1.45  |  DISEASES
64225  |  ATL2  |  1.159  |  DISEASES
545  |  ATR  |  1.18  |  DISEASES
9212  |  AURKB  |  1.073  |  DISEASES
567  |  B2M  |  2.259  |  DISEASES
586  |  BCAT1  |  1.623  |  DISEASES
10018  |  BCL2L11  |  3.382  |  DISEASES
605  |  BCL7A  |  2.288  |  DISEASES
641  |  BLM  |  1.975  |  DISEASES
55589  |  BMP2K  |  1.142  |  DISEASES
79866  |  BORA  |  1.173  |  DISEASES
79680  |  C22orf29  |  2.88  |  DISEASES
23705  |  CADM1  |  1.051  |  DISEASES
841  |  CASP8  |  2.19  |  DISEASES
842  |  CASP9  |  2.015  |  DISEASES
153733  |  CCDC112  |  2.864  |  DISEASES
896  |  CCND3  |  3.239  |  DISEASES
899  |  CCNF  |  1.102  |  DISEASES
10693  |  CCT6B  |  2.308  |  DISEASES
930  |  CD19  |  4.216  |  DISEASES
914  |  CD2  |  1.771  |  DISEASES
951  |  CD37  |  2.515  |  DISEASES
958  |  CD40  |  4.317  |  DISEASES
959  |  CD40LG  |  4.174  |  DISEASES
960  |  CD44  |  2.533  |  DISEASES
962  |  CD48  |  1.035  |  DISEASES
921  |  CD5  |  3.133  |  DISEASES
1043  |  CD52  |  2.572  |  DISEASES
965  |  CD58  |  4.257  |  DISEASES
966  |  CD59  |  1.915  |  DISEASES
974  |  CD79B  |  1.832  |  DISEASES
983  |  CDK1  |  1.672  |  DISEASES
1029  |  CDKN2A  |  2.488  |  DISEASES
1122  |  CHML  |  1.094  |  DISEASES
26586  |  CKAP2  |  1.569  |  DISEASES
1378  |  CR1  |  1.979  |  DISEASES
1380  |  CR2  |  3.698  |  DISEASES
1385  |  CREB1  |  1.06  |  DISEASES
5476  |  CTSA  |  1.1  |  DISEASES
7852  |  CXCR4  |  1.688  |  DISEASES
80319  |  CXXC4  |  1.389  |  DISEASES
51428  |  DDX41  |  1.08  |  DISEASES
23586  |  DDX58  |  2.091  |  DISEASES
55070  |  DET1  |  2.119  |  DISEASES
10301  |  DLEU1  |  1.008  |  DISEASES
1755  |  DMBT1  |  1.118  |  DISEASES
1785  |  DNM2  |  1.098  |  DISEASES
1791  |  DNTT  |  2.952  |  DISEASES
1847  |  DUSP5  |  3.018  |  DISEASES
1946  |  EFNA5  |  2.19  |  DISEASES
1978  |  EIF4EBP1  |  1.35  |  DISEASES
129080  |  EMID1  |  2.516  |  DISEASES
953  |  ENTPD1  |  3.378  |  DISEASES
3266  |  ERAS  |  1.124  |  DISEASES
51513  |  ETV7  |  1.389  |  DISEASES
355  |  FAS  |  3.219  |  DISEASES
356  |  FASLG  |  1.936  |  DISEASES
83416  |  FCRL5  |  1.125  |  DISEASES
8823  |  FGF16  |  1.225  |  DISEASES
2268  |  FGR  |  3.356  |  DISEASES
2272  |  FHIT  |  1.148  |  DISEASES
752  |  FMNL1  |  1.161  |  DISEASES
91010  |  FMNL3  |  1.57  |  DISEASES
2526  |  FUT4  |  1.485  |  DISEASES
2534  |  FYN  |  1.265  |  DISEASES
257144  |  GCSAM  |  2.787  |  DISEASES
2737  |  GLI3  |  1.12  |  DISEASES
10672  |  GNA13  |  3.546  |  DISEASES
1880  |  GPR183  |  1.196  |  DISEASES
3005  |  H1F0  |  1.107  |  DISEASES
9709  |  HERPUD1  |  1.946  |  DISEASES
3006  |  HIST1H1C  |  1.659  |  DISEASES
3010  |  HIST1H1T  |  1.727  |  DISEASES
8359  |  HIST1H4A  |  1.11  |  DISEASES
8366  |  HIST1H4B  |  1.11  |  DISEASES
8364  |  HIST1H4C  |  1.11  |  DISEASES
8360  |  HIST1H4D  |  1.109  |  DISEASES
8367  |  HIST1H4E  |  1.11  |  DISEASES
8361  |  HIST1H4F  |  1.11  |  DISEASES
8294  |  HIST1H4I  |  1.11  |  DISEASES
8363  |  HIST1H4J  |  1.11  |  DISEASES
8362  |  HIST1H4K  |  1.11  |  DISEASES
8368  |  HIST1H4L  |  1.11  |  DISEASES
8370  |  HIST2H4A  |  1.11  |  DISEASES
554313  |  HIST2H4B  |  1.11  |  DISEASES
121504  |  HIST4H4  |  1.11  |  DISEASES
3105  |  HLA-A  |  2.149  |  DISEASES
3106  |  HLA-B  |  1.095  |  DISEASES
3108  |  HLA-DMA  |  1.257  |  DISEASES
3150  |  HMGN1  |  1.891  |  DISEASES
3151  |  HMGN2  |  1.265  |  DISEASES
57594  |  HOMEZ  |  2.341  |  DISEASES
9653  |  HS2ST1  |  1.556  |  DISEASES
219844  |  HYLS1  |  2.8  |  DISEASES
3384  |  ICAM2  |  1.64  |  DISEASES
3399  |  ID3  |  3.957  |  DISEASES
3456  |  IFNB1  |  2.14  |  DISEASES
100423062  |  IGLL5  |  2.945  |  DISEASES
10320  |  IKZF1  |  1.045  |  DISEASES
3586  |  IL10  |  2.717  |  DISEASES
3559  |  IL2RA  |  1.035  |  DISEASES
3570  |  IL6R  |  1.584  |  DISEASES
10989  |  IMMT  |  1.095  |  DISEASES
3660  |  IRF2  |  1.818  |  DISEASES
3662  |  IRF4  |  3.097  |  DISEASES
3665  |  IRF7  |  1.749  |  DISEASES
3683  |  ITGAL  |  2.668  |  DISEASES
3716  |  JAK1  |  1.618  |  DISEASES
3725  |  JUN  |  1.202  |  DISEASES
3963  |  LGALS7  |  1.645  |  DISEASES
4033  |  LRMP  |  1.382  |  DISEASES
4049  |  LTA  |  1.384  |  DISEASES
4067  |  LYN  |  2.763  |  DISEASES
7786  |  MAP3K12  |  1.018  |  DISEASES
5599  |  MAPK8  |  1.227  |  DISEASES
4153  |  MBL2  |  1.128  |  DISEASES
4170  |  MCL1  |  2.318  |  DISEASES
4193  |  MDM2  |  2.233  |  DISEASES
4194  |  MDM4  |  1.382  |  DISEASES
114614  |  MIR155HG  |  2.223  |  DISEASES
407975  |  MIR17HG  |  2.503  |  DISEASES
83881  |  MIXL1  |  1.126  |  DISEASES
4311  |  MME  |  4.996  |  DISEASES
4332  |  MNDA  |  1.816  |  DISEASES
9242  |  MSC  |  1.87  |  DISEASES
4519  |  MT-CYB  |  1.04  |  DISEASES
10797  |  MTHFD2  |  1.157  |  DISEASES
10903  |  MTMR11  |  1.739  |  DISEASES
4602  |  MYB  |  1.733  |  DISEASES
4603  |  MYBL1  |  2.825  |  DISEASES
4609  |  MYC  |  7.097  |  DISEASES
4615  |  MYD88  |  1.284  |  DISEASES
4675  |  NAP1L3  |  2.086  |  DISEASES
25915  |  NDUFAF3  |  1.217  |  DISEASES
4753  |  NELL2  |  1.322  |  DISEASES
4773  |  NFATC2  |  1.056  |  DISEASES
11188  |  NISCH  |  1.498  |  DISEASES
10528  |  NOP56  |  1.149  |  DISEASES
8131  |  NPRL3  |  1.595  |  DISEASES
8650  |  NUMB  |  1.601  |  DISEASES
120406  |  NXPE2  |  2.885  |  DISEASES
54827  |  NXPE4  |  2.502  |  DISEASES
56957  |  OTUD7B  |  1.543  |  DISEASES
286530  |  P2RY8  |  1.062  |  DISEASES
283208  |  P4HA3  |  2.027  |  DISEASES
5049  |  PAFAH1B2  |  1.727  |  DISEASES
142  |  PARP1  |  2.504  |  DISEASES
5079  |  PAX5  |  3.312  |  DISEASES
56146  |  PCDHA2  |  2.688  |  DISEASES
5155  |  PDGFB  |  1.158  |  DISEASES
9260  |  PDLIM7  |  3.964  |  DISEASES
57162  |  PELI1  |  1.502  |  DISEASES
84992  |  PIGY  |  1.039  |  DISEASES
118788  |  PIK3AP1  |  1.909  |  DISEASES
5292  |  PIM1  |  1.368  |  DISEASES
11040  |  PIM2  |  1.147  |  DISEASES
84812  |  PLCD4  |  1.956  |  DISEASES
5336  |  PLCG2  |  1.521  |  DISEASES
5366  |  PMAIP1  |  1.607  |  DISEASES
5452  |  POU2F2  |  1.203  |  DISEASES
639  |  PRDM1  |  3.136  |  DISEASES
55660  |  PRPF40A  |  1.196  |  DISEASES
25766  |  PRPF40B  |  1.888  |  DISEASES
23215  |  PRRC2C  |  2.267  |  DISEASES
5699  |  PSMB10  |  2.128  |  DISEASES
5696  |  PSMB8  |  1.884  |  DISEASES
5698  |  PSMB9  |  2.667  |  DISEASES
5788  |  PTPRC  |  2.645  |  DISEASES
5820  |  PVT1  |  3.113  |  DISEASES
5866  |  RAB3IL1  |  1.829  |  DISEASES
5902  |  RANBP1  |  1.059  |  DISEASES
5905  |  RANGAP1  |  1.141  |  DISEASES
5933  |  RBL1  |  1.823  |  DISEASES
3516  |  RBPJ  |  3.421  |  DISEASES
5970  |  RELA  |  1.142  |  DISEASES
58480  |  RHOU  |  1.155  |  DISEASES
27246  |  RNF115  |  1.241  |  DISEASES
6135  |  RPL11  |  1.587  |  DISEASES
6146  |  RPL22  |  1.761  |  DISEASES
6158  |  RPL28  |  1.256  |  DISEASES
6194  |  RPS6  |  1.242  |  DISEASES
27164  |  SALL3  |  1.556  |  DISEASES
29843  |  SENP1  |  1.449  |  DISEASES
327657  |  SERPINA9  |  2.768  |  DISEASES
4068  |  SH2D1A  |  4.393  |  DISEASES
8631  |  SKAP1  |  1.537  |  DISEASES
9123  |  SLC16A3  |  1.208  |  DISEASES
347734  |  SLC35B2  |  3.055  |  DISEASES
51000  |  SLC35B3  |  1.987  |  DISEASES
6597  |  SMARCA4  |  1.928  |  DISEASES
23583  |  SMUG1  |  2.187  |  DISEASES
6622  |  SNCA  |  1.562  |  DISEASES
22986  |  SORCS3  |  1.53  |  DISEASES
6664  |  SOX11  |  2.914  |  DISEASES
6693  |  SPN  |  3.413  |  DISEASES
6714  |  SRC  |  1.19  |  DISEASES
6772  |  STAT1  |  1.207  |  DISEASES
65975  |  STK33  |  1.514  |  DISEASES
6850  |  SYK  |  1.965  |  DISEASES
84897  |  TBRG1  |  1.519  |  DISEASES
7062  |  TCHH  |  1.465  |  DISEASES
7037  |  TFRC  |  1.966  |  DISEASES
55623  |  THUMPD1  |  1.193  |  DISEASES
54106  |  TLR9  |  1.551  |  DISEASES
121256  |  TMEM132D  |  1.629  |  DISEASES
7124  |  TNF  |  1.951  |  DISEASES
10673  |  TNFSF13B  |  2.101  |  DISEASES
7174  |  TPP2  |  3.117  |  DISEASES
8717  |  TRADD  |  1.729  |  DISEASES
7185  |  TRAF1  |  1.469  |  DISEASES
7106  |  TSPAN4  |  1.534  |  DISEASES
10383  |  TUBB4B  |  1.27  |  DISEASES
7441  |  VPREB1  |  1.199  |  DISEASES
331  |  XIAP  |  1.661  |  DISEASES
10773  |  ZBTB6  |  2.075  |  DISEASES
340152  |  ZC3H12D  |  2.792  |  DISEASES
84186  |  ZCCHC7  |  1.379  |  DISEASES
653082  |  ZDHHC11B  |  2.612  |  DISEASES
151126  |  ZNF385B  |  1.779  |  DISEASES
Locus
Symbol | Locus(Total Locus:1)
MYC  |  8q24.21
Disease ID 297
Disease burkitt lymphoma
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:13)
HP:0000137  |  Abnormality of the ovary
HP:0002239  |  Gastrointestinal hemorrhage
HP:0100649  |  Neoplasm of the oral cavity
HP:0005561  |  Abnormality of bone marrow cell morphology
HP:0045040  |  Abnormal lactate dehydrogenase activity
HP:0002027  |  Abdominal pain
HP:0002017  |  Nausea and vomiting
HP:0001732  |  Abnormality of the pancreas
HP:0001392  |  Abnormality of the liver
HP:0002733  |  Abnormality of the lymph nodes
HP:0002149  |  Hyperuricemia
HP:0001743  |  Abnormality of the spleen
HP:0005214  |  Intestinal obstruction
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:40)
HP:0002664  |  Neoplasia  |  10
HP:0002665  |  Lymphoma  |  5
HP:0002721  |  Immunodeficiency  |  4
HP:0012191  |  B-cell lymphoma  |  3
HP:0003002  |  Breast carcinoma  |  2
HP:0001909  |  Leukemia  |  2
HP:0002576  |  Intussusception  |  2
HP:0002885  |  Medulloblastoma  |  1
HP:0001919  |  Acute renal failure  |  1
HP:0001824  |  Weight loss  |  1
HP:0000789  |  Infertility  |  1
HP:0001658  |  Myocardial infarction  |  1
HP:0012125  |  Prostate cancer  |  1
HP:0003401  |  Paresthesia  |  1
HP:0012115  |  Liver inflammation  |  1
HP:0000867  |  Secondary hyperparathyroidism  |  1
HP:0001410  |  Decreased liver function  |  1
HP:0012539  |  Non-Hodgkin lymphoma  |  1
HP:0001394  |  Hepatic cirrhosis  |  1
HP:0001399  |  Liver failure  |  1
HP:0006554  |  Acute hepatic failure  |  1
HP:0004395  |  Malnutrition  |  1
HP:0007868  |  ARMD  |  1
HP:0005387  |  Combined immunodeficiency  |  1
HP:0100661  |  Trigeminal neuralgia  |  1
HP:0000670  |  Dental caries  |  1
HP:0012189  |  Hodgkin disease  |  1
HP:0001061  |  Acne  |  1
HP:0003193  |  Allergic rhinitis  |  1
HP:0012324  |  Myeloid leukemia  |  1
HP:0003251  |  Male infertility  |  1
HP:0002653  |  Bone pain  |  1
HP:0000083  |  Renal insufficiency  |  1
HP:0004808  |  Acute myelogenous leukemia  |  1
HP:0002027  |  Abdominal pain  |  1
HP:0002488  |  Acute leukemias  |  1
HP:0012531  |  Pain  |  1
HP:0012384  |  Nasal inflammation  |  1
HP:0000843  |  Hyperparathyroidism  |  1
HP:0001735  |  Acute pancreatitis  |  1
Disease ID 297
Disease burkitt lymphoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:8)
C2707258  |  infections
C1997158  |  acute renal failure due to obstruction
C1608408  |  malignant transformation
C0598766  |  lymphomagenesis
C0311284  |  multicentric reticulohistiocytosis
C0085669  |  acute leukemia
C0033626  |  protein deficiency
C0022660  |  acute renal failure
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:6)
C0009450  |  infection  |  2
C0149678  |  epstein-barr virus infection  |  1
C0022660  |  acute renal failure  |  1
C0024530  |  malaria  |  1
C1608408  |  malignant transformation  |  1
C0041364  |  tumor lysis 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:4)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs121918683NA4609MYCumls:C0006413CLINVARNA0.495996478NAMYC8127738519AC
rs121918684NA4609MYCumls:C0006413CLINVARNA0.495996478NAMYC8127738379GC
rs121918685NA4609MYCumls:C0006413CLINVARNA0.495996478NAMYC8127738437CG
rs28933407NA4609MYCumls:C0006413CLINVARNA0.495996478NAMYC8127738431CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:8)
HP ID HP Name MP ID MP Name Annotation
HP:0001743Abnormality of the spleenMP:0004485increased response of heart to induced stressincrease in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding
HP:0002239Gastrointestinal hemorrhageMP:0012305umbilical cord hemorrhagebleeding into or from the umbilical cord
HP:0001732Abnormality of the pancreasMP:0014230dilated crypts of Lieberkuhn
HP:0001392Abnormality of the liverMP:0020010decreased bone mineral density of femurreduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0005561Abnormality of bone marrow cell morphologyMP:0013283failure of ventral body wall closurefailure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h
HP:0005214Intestinal obstructionMP:0003587ureter obstructiona partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic
HP:0002017Nausea and vomitingMP:0010426abnormal heart and great artery attachmentany anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta
HP:0002733Abnormality of the lymph nodesMP:0008024absent lymph nodesabsence of the oval or bean shaped bodies located along the lymphatic system that consist of densely packed lymphocytes, lymph fluid and connective tissue; these are the sites where acquired immune responses are launched
Mapped by homologous gene(Total Items:10)
HP ID HP Name MP ID MP Name Annotation
HP:0005214Intestinal obstructionMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0002149HyperuricemiaMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001743Abnormality of the spleenMP:0013696increased granulocyte monocyte progenitor cell numberincrease in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1
HP:0002027Abdominal painMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0001392Abnormality of the liverMP:0020169increased thyroid gland weighthigher than average weight of the thyroid gland
HP:0002733Abnormality of the lymph nodesMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0002239Gastrointestinal hemorrhageMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0002017Nausea and vomitingMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0005561Abnormality of bone marrow cell morphologyMP:0014071increased cardiac muscle glycogen levelgreater than the normal concentration of a readily converted carbohydrate reserve in heart muscle
HP:0001732Abnormality of the pancreasMP:0014233bile duct epithelium hyperplasia
Disease ID 297
Disease burkitt lymphoma
Case(Waiting for update.)