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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   acute lymphocytic leukemia
  

Disease ID 459
Disease acute lymphocytic leukemia
Definition
acute leukemia in which lymphoblasts and their progenitor cells predominate; the most common childhood cancer and accounts for 20 percent of adult acute leukemia; common ALL antigen (CALLA) expressed in most cases.
Synonym
[m]acute lymphoid leukaemia
[m]acute lymphoid leukaemia (disorder)
[m]acute lymphoid leukemia
[m]acute lymphoid leukemia (morphologic abnormality)
acute leukaemia lymphoblastic
acute leukemia lymphoblastic
acute leukemia lymphocytic
acute leukemia lymphoid
acute lymphatic leukaemia
acute lymphatic leukemia
acute lymphoblastic leukaemia
acute lymphoblastic leukaemia -retired-
acute lymphoblastic leukaemia-lymphoma
acute lymphoblastic leukemia
acute lymphoblastic leukemia (morphologic abnormality)
acute lymphoblastic leukemia -retired-
acute lymphoblastic leukemia, nos
acute lymphoblastic leukemia-lymphoma
acute lymphoblastic leukemias
acute lymphocytic leukaemia
acute lymphocytic leukemia (all)
acute lymphocytic leukemias
acute lymphogenous leukemia
acute lymphoid leukaemia
acute lymphoid leukaemia, disease
acute lymphoid leukemia
acute lymphoid leukemia, disease
acute lymphoid leukemia, disease (disorder)
all
all - acute lymphoblastic leukaemia
all - acute lymphoblastic leukemia
all - acute lymphocytic leukemia
leukemia - acute lymphoblastic
leukemia acute lymphoblastic
leukemia lymphoblastic acute
leukemia, acute lymphocytic
leukemia, lymphoblastic, acute
leukemia, lymphoblastic, malignant
leukemia, lymphocytic, acute
lymphoblastic leukaemia
lymphoblastic leukemia, nos
lymphocytic leukemia acute
lymphoid leukemia, acute
precursor cell lymphoblastic leukemia
precursor lymphoblasic leukemia
precursor lymphoblastic leukemia
Orphanet
OMIM
DOID
UMLS
C0023449
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:123)
C0023418  |  leukemia  |  15
C0030305  |  pancreatitis  |  6
C0024299  |  lymphoma  |  5
C0040053  |  thrombosis  |  4
C0040034  |  thrombocytopenia  |  4
C0026718  |  mucormycosis  |  4
C0030312  |  pancytopenia  |  3
C0022660  |  acute renal failure  |  3
C0035078  |  renal failure  |  3
C1568868  |  oral mucositis  |  3
C0028754  |  obesity  |  3
C0019158  |  hepatitis  |  3
C0023449  |  acute lymphoblastic leukemia  |  2
C0024291  |  hemophagocytic lymphohistiocytosis  |  2
C0029443  |  osteomyelitis  |  2
C0023470  |  myelogenous leukemia  |  2
C0028754  |  adiposity  |  2
C0024314  |  lymphoproliferative disorder  |  2
C0948265  |  metabolic syndrome  |  2
C0023448  |  lymphoblastic leukemia  |  2
C0024299  |  lymphomas  |  2
C0027947  |  neutropenia  |  2
C0221026  |  x-linked agammaglobulinemia  |  2
C0023473  |  chronic myeloid leukaemia  |  2
C0442874  |  neuropathy  |  2
C0008049  |  varicella  |  2
C0001768  |  agammaglobulinemia  |  2
C0023470  |  myeloid leukaemia  |  2
C0001125  |  lactic acidosis  |  2
C0004030  |  aspergillosis  |  2
C0032285  |  pneumonia  |  2
C0023418  |  leukaemia  |  2
C0085669  |  acute leukemia  |  2
C0023470  |  myeloid leukemia  |  2
C0031117  |  peripheral neuropathy  |  2
C0085253  |  adult-onset still's disease  |  1
C0018801  |  heart failure  |  1
C0017205  |  gaucher disease  |  1
C0015625  |  fanconi anemia  |  1
C0026934  |  pleuropneumonia  |  1
C0162429  |  undernourished  |  1
C0730306  |  ocular lymphoma  |  1
C0281963  |  red cell aplasia  |  1
C0023418  |  leukemias  |  1
C0034902  |  pure red cell aplasia  |  1
C0085293  |  hepatitis e  |  1
C0005859  |  bloom syndrome  |  1
C0519030  |  klebsiella pneumonia  |  1
C0002880  |  autoimmune hemolytic anemia  |  1
C0265210  |  weaver syndrome  |  1
C0679466  |  cognitive deficits  |  1
C0007642  |  cellulitis  |  1
C0020437  |  hypercalcaemia  |  1
C0018799  |  cardiac disease  |  1
C0019061  |  haemolytic uraemic syndrome  |  1
C0007117  |  basal cell carcinoma  |  1
C0017601  |  glaucoma  |  1
C0026986  |  myelodysplastic syndrome  |  1
C0024141  |  systemic lupus erythematosus  |  1
C0014236  |  endophthalmitis  |  1
C0023467  |  acute myeloid leukemia  |  1
C0026946  |  fungal infections  |  1
C0878544  |  cardiomyopathy  |  1
C0409974  |  lupus erythematosus  |  1
C1336745  |  thymic lymphoma  |  1
C0019621  |  langerhans cell histiocytosis  |  1
C0010418  |  cryptosporidiosis  |  1
C0023473  |  chronic myelogenous leukemia (cml)  |  1
C0025289  |  meningitis  |  1
C0002871  |  anaemia  |  1
C0206178  |  cytomegalovirus retinitis  |  1
C0001339  |  acute pancreatitis  |  1
C0015464  |  facial palsy  |  1
C0020456  |  hyperglycemia  |  1
C0281658  |  intraocular lymphoma  |  1
C0018802  |  congestive heart failure  |  1
C0032587  |  polyradiculoneuropathy  |  1
C0028326  |  noonan syndrome  |  1
C0031069  |  familial mediterranean fever  |  1
C0010414  |  cryptococcus neoformans  |  1
C1261473  |  sarcoma  |  1
C0020635  |  hypopituitarism  |  1
C0154841  |  central retinal vein occlusion  |  1
C0007959  |  charcot-marie-tooth disease  |  1
C0012739  |  disseminated intravascular coagulation  |  1
C0014877  |  esotropia  |  1
C0023473  |  chronic myelogenous leukemia  |  1
C0019360  |  zoster  |  1
C0023473  |  chronic myeloid leukemia  |  1
C0006413  |  burkitt lymphoma  |  1
C0031039  |  pericardial effusion  |  1
C0035333  |  retinitis  |  1
C0032285  |  pneumoniae  |  1
C0028866  |  oculomotor nerve palsy  |  1
C0018378  |  guillain-barre syndrome  |  1
C0019618  |  histiocytosis  |  1
C0343957  |  cutaneous mucormycosis  |  1
C0022658  |  nephropathy  |  1
C0020598  |  hypoglycemia  |  1
C0016085  |  filariasis  |  1
C0079419  |  li-fraumeni syndrome  |  1
C0015645  |  fasciitis  |  1
C0339578  |  steroid-induced glaucoma  |  1
C0008625  |  chromosomal abnormality  |  1
C0002878  |  hemolytic anemia  |  1
C0043117  |  immune thrombocytopenic purpura  |  1
C0035328  |  retinal vein occlusion  |  1
C0021400  |  influenza  |  1
C0238124  |  necrotizing fasciitis  |  1
C0005745  |  ptosis  |  1
C0079748  |  lymphoblastic lymphoma  |  1
C0039730  |  thalassemia  |  1
C0029456  |  osteoporosis  |  1
C1619734  |  pulmonary arterial hypertension  |  1
C0267211  |  gastric antral vascular ectasia  |  1
C0023467  |  acute myeloblastic leukemia  |  1
C0033680  |  protein-losing enteropathy  |  1
C0003864  |  arthritis  |  1
C0085113  |  neurofibromatosis  |  1
C0026946  |  fungal infection  |  1
C0011991  |  diarrhea  |  1
C0034150  |  purpura  |  1
C0020538  |  hypertension  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:12)
6929  |  TCF3  |  UNIPROT
2322  |  FLT3  |  CLINVAR
5087  |  PBX1  |  UNIPROT
6491  |  STIL  |  UNIPROT
675  |  BRCA2  |  UNIPROT
5156  |  PDGFRA  |  UNIPROT
4004  |  LMO1  |  UNIPROT
3131  |  HLF  |  UNIPROT
4066  |  LYL1  |  UNIPROT
6887  |  TAL2  |  UNIPROT
6886  |  TAL1  |  UNIPROT
3195  |  TLX1  |  UNIPROT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:3)
1029  |  CDKN2A  |  CIPHER
10320  |  IKZF1  |  CIPHER
4893  |  NRAS  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:420)
20  |  ABCA2  |  1.585  |  DISEASES
4363  |  ABCC1  |  2.118  |  DISEASES
1244  |  ABCC2  |  1.422  |  DISEASES
10257  |  ABCC4  |  3.077  |  DISEASES
10057  |  ABCC5  |  2.577  |  DISEASES
25  |  ABL1  |  6.472  |  DISEASES
27  |  ABL2  |  3.142  |  DISEASES
55  |  ACPP  |  2.122  |  DISEASES
60  |  ACTB  |  1.895  |  DISEASES
71  |  ACTG1  |  1.71  |  DISEASES
100  |  ADA  |  2.67  |  DISEASES
339366  |  ADAMTSL5  |  1.475  |  DISEASES
105  |  ADARB2  |  1.357  |  DISEASES
120  |  ADD3  |  1.548  |  DISEASES
4299  |  AFF1  |  6.293  |  DISEASES
2334  |  AFF2  |  1.458  |  DISEASES
3899  |  AFF3  |  2.73  |  DISEASES
11214  |  AKAP13  |  1.479  |  DISEASES
8227  |  AKAP17A  |  2.344  |  DISEASES
309  |  ANXA6  |  1.239  |  DISEASES
1176  |  AP3S1  |  1.261  |  DISEASES
317  |  APAF1  |  1.912  |  DISEASES
9138  |  ARHGEF1  |  1.913  |  DISEASES
415  |  ARSE  |  1.465  |  DISEASES
8623  |  ASMTL  |  1.123  |  DISEASES
374569  |  ASPG  |  1.277  |  DISEASES
171023  |  ASXL1  |  1.356  |  DISEASES
10079  |  ATP9A  |  1.778  |  DISEASES
9212  |  AURKB  |  1.501  |  DISEASES
26053  |  AUTS2  |  2.027  |  DISEASES
567  |  B2M  |  2.876  |  DISEASES
53335  |  BCL11A  |  1.221  |  DISEASES
64919  |  BCL11B  |  4.4  |  DISEASES
10018  |  BCL2L11  |  3.757  |  DISEASES
8678  |  BECN1  |  1.404  |  DISEASES
632  |  BGLAP  |  1.103  |  DISEASES
414899  |  BLID  |  1.09  |  DISEASES
648  |  BMI1  |  2.146  |  DISEASES
643376  |  BTBD18  |  1.601  |  DISEASES
151888  |  BTLA  |  1.87  |  DISEASES
144608  |  C12orf60  |  2.088  |  DISEASES
100507249  |  C8orf17  |  1.415  |  DISEASES
51759  |  C9orf78  |  1.476  |  DISEASES
796  |  CALCA  |  1.234  |  DISEASES
157922  |  CAMSAP1  |  1.626  |  DISEASES
833  |  CARS  |  4.038  |  DISEASES
727677  |  CASC8  |  1.384  |  DISEASES
841  |  CASP8  |  2.676  |  DISEASES
842  |  CASP9  |  2.226  |  DISEASES
54897  |  CASZ1  |  2.141  |  DISEASES
25901  |  CCDC28A  |  1.322  |  DISEASES
6370  |  CCL25  |  1.297  |  DISEASES
892  |  CCNC  |  2.158  |  DISEASES
896  |  CCND3  |  2.641  |  DISEASES
54619  |  CCNJ  |  1.064  |  DISEASES
10803  |  CCR9  |  1.317  |  DISEASES
10575  |  CCT4  |  1.341  |  DISEASES
930  |  CD19  |  6.44  |  DISEASES
914  |  CD2  |  4.767  |  DISEASES
4345  |  CD200  |  1.515  |  DISEASES
919  |  CD247  |  2.436  |  DISEASES
11314  |  CD300A  |  1.013  |  DISEASES
951  |  CD37  |  1.488  |  DISEASES
917  |  CD3G  |  2.127  |  DISEASES
958  |  CD40  |  2.783  |  DISEASES
959  |  CD40LG  |  3.444  |  DISEASES
960  |  CD44  |  2.618  |  DISEASES
961  |  CD47  |  1.139  |  DISEASES
921  |  CD5  |  4.334  |  DISEASES
1043  |  CD52  |  2.615  |  DISEASES
965  |  CD58  |  3.266  |  DISEASES
923  |  CD6  |  1.509  |  DISEASES
974  |  CD79B  |  1.923  |  DISEASES
9308  |  CD83  |  1.639  |  DISEASES
942  |  CD86  |  2.17  |  DISEASES
4267  |  CD99  |  1.196  |  DISEASES
978  |  CDA  |  1.312  |  DISEASES
1003  |  CDH5  |  1.029  |  DISEASES
1029  |  CDKN2A  |  4.762  |  DISEASES
1045  |  CDX2  |  1.618  |  DISEASES
1046  |  CDX4  |  1.631  |  DISEASES
1084  |  CEACAM3  |  1.251  |  DISEASES
1050  |  CEBPA  |  1.623  |  DISEASES
387119  |  CEP85L  |  1.139  |  DISEASES
1111  |  CHEK1  |  1.523  |  DISEASES
11200  |  CHEK2  |  1.279  |  DISEASES
55743  |  CHFR  |  1.082  |  DISEASES
160364  |  CLEC12A  |  2.039  |  DISEASES
170482  |  CLEC4C  |  1.613  |  DISEASES
23019  |  CNOT1  |  1.153  |  DISEASES
29883  |  CNOT7  |  1.117  |  DISEASES
131873  |  COL6A6  |  1.208  |  DISEASES
1378  |  CR1  |  5.04  |  DISEASES
1380  |  CR2  |  2.646  |  DISEASES
1385  |  CREB1  |  1.065  |  DISEASES
1399  |  CRKL  |  3.241  |  DISEASES
64109  |  CRLF2  |  5.429  |  DISEASES
1438  |  CSF2RA  |  2.221  |  DISEASES
1441  |  CSF3R  |  2.349  |  DISEASES
728911  |  CT45A2  |  1.752  |  DISEASES
1499  |  CTNNB1  |  1.677  |  DISEASES
6387  |  CXCL12  |  2.954  |  DISEASES
7852  |  CXCR4  |  3.014  |  DISEASES
1543  |  CYP1A1  |  2.409  |  DISEASES
1565  |  CYP2D6  |  1.127  |  DISEASES
1576  |  CYP3A4  |  1.771  |  DISEASES
51339  |  DACT1  |  2.113  |  DISEASES
1612  |  DAPK1  |  1.859  |  DISEASES
1635  |  DCTD  |  1.752  |  DISEASES
317781  |  DDX51  |  1.506  |  DISEASES
1667  |  DEFA1  |  1.128  |  DISEASES
728358  |  DEFA1B  |  1.128  |  DISEASES
7913  |  DEK  |  1.445  |  DISEASES
1719  |  DHFR  |  2.906  |  DISEASES
56616  |  DIABLO  |  2.032  |  DISEASES
120526  |  DNAJC24  |  1.189  |  DISEASES
1785  |  DNM2  |  1.238  |  DISEASES
1786  |  DNMT1  |  1.684  |  DISEASES
1791  |  DNTT  |  4.77  |  DISEASES
84444  |  DOT1L  |  2.477  |  DISEASES
51611  |  DPH5  |  1.391  |  DISEASES
8813  |  DPM1  |  1.142  |  DISEASES
1847  |  DUSP5  |  1.192  |  DISEASES
1850  |  DUSP8  |  1.644  |  DISEASES
100288687  |  DUX4  |  1.744  |  DISEASES
653545  |  DUX4L5  |  1.744  |  DISEASES
1879  |  EBF1  |  4.484  |  DISEASES
8661  |  EIF3A  |  2.568  |  DISEASES
1977  |  EIF4E  |  1.315  |  DISEASES
1978  |  EIF4EBP1  |  1.905  |  DISEASES
2009  |  EML1  |  1.918  |  DISEASES
2037  |  EPB41L2  |  1.101  |  DISEASES
2053  |  EPHX2  |  2.459  |  DISEASES
2060  |  EPS15  |  2.227  |  DISEASES
3266  |  ERAS  |  1.192  |  DISEASES
2113  |  ETS1  |  2.131  |  DISEASES
2120  |  ETV6  |  6.399  |  DISEASES
51513  |  ETV7  |  1.557  |  DISEASES
2130  |  EWSR1  |  1.379  |  DISEASES
51013  |  EXOSC1  |  1.971  |  DISEASES
2152  |  F3  |  1.902  |  DISEASES
257415  |  FAM133B  |  1.578  |  DISEASES
55120  |  FANCL  |  2.808  |  DISEASES
355  |  FAS  |  2.761  |  DISEASES
356  |  FASLG  |  1.962  |  DISEASES
79675  |  FASTKD1  |  1.512  |  DISEASES
2195  |  FAT1  |  1.762  |  DISEASES
25827  |  FBXL2  |  1.048  |  DISEASES
2209  |  FCGR1A  |  1.081  |  DISEASES
2210  |  FCGR1B  |  1.617  |  DISEASES
2214  |  FCGR3A  |  2.442  |  DISEASES
115350  |  FCRL1  |  1.124  |  DISEASES
2260  |  FGFR1  |  1.153  |  DISEASES
2268  |  FGR  |  1.299  |  DISEASES
2272  |  FHIT  |  2.188  |  DISEASES
2274  |  FHL2  |  1.198  |  DISEASES
2335  |  FN1  |  2.192  |  DISEASES
2352  |  FOLR3  |  1.185  |  DISEASES
2309  |  FOXO3  |  2.32  |  DISEASES
2356  |  FPGS  |  2.104  |  DISEASES
23150  |  FRMD4B  |  1.216  |  DISEASES
285527  |  FRYL  |  2.114  |  DISEASES
2524  |  FUT2  |  1.136  |  DISEASES
2526  |  FUT4  |  3.901  |  DISEASES
53827  |  FXYD5  |  2.05  |  DISEASES
2534  |  FYN  |  1.292  |  DISEASES
2623  |  GATA1  |  2.85  |  DISEASES
2624  |  GATA2  |  2.46  |  DISEASES
2625  |  GATA3  |  2.719  |  DISEASES
54810  |  GIPC2  |  1.961  |  DISEASES
55970  |  GNG12  |  2.228  |  DISEASES
54331  |  GNG2  |  1.088  |  DISEASES
2803  |  GOLGA4  |  1.405  |  DISEASES
160897  |  GPR180  |  1.398  |  DISEASES
2879  |  GPX4  |  1.078  |  DISEASES
2885  |  GRB2  |  1.485  |  DISEASES
2932  |  GSK3B  |  1.475  |  DISEASES
2950  |  GSTP1  |  2.683  |  DISEASES
2993  |  GYPA  |  2.588  |  DISEASES
3014  |  H2AFX  |  1.76  |  DISEASES
3065  |  HDAC1  |  2.241  |  DISEASES
283450  |  HECTD4  |  1.021  |  DISEASES
3077  |  HFE  |  1.448  |  DISEASES
9146  |  HGS  |  1.656  |  DISEASES
85236  |  HIST1H2BK  |  1.075  |  DISEASES
3105  |  HLA-A  |  3.435  |  DISEASES
3106  |  HLA-B  |  1.78  |  DISEASES
3107  |  HLA-C  |  2.321  |  DISEASES
3115  |  HLA-DPB1  |  1.749  |  DISEASES
3123  |  HLA-DRB1  |  1.433  |  DISEASES
3142  |  HLX  |  1.715  |  DISEASES
3150  |  HMGN1  |  1.1  |  DISEASES
3205  |  HOXA9  |  2.935  |  DISEASES
3320  |  HSP90AA1  |  2.025  |  DISEASES
3309  |  HSPA5  |  1.015  |  DISEASES
3316  |  HSPB2  |  1.142  |  DISEASES
3400  |  ID4  |  2.694  |  DISEASES
3481  |  IGF2  |  1.416  |  DISEASES
3486  |  IGFBP3  |  1.95  |  DISEASES
3543  |  IGLL1  |  1.725  |  DISEASES
100423062  |  IGLL5  |  2.347  |  DISEASES
10320  |  IKZF1  |  6.354  |  DISEASES
22807  |  IKZF2  |  1.072  |  DISEASES
22806  |  IKZF3  |  2.921  |  DISEASES
3586  |  IL10  |  1.818  |  DISEASES
3559  |  IL2RA  |  2.581  |  DISEASES
3561  |  IL2RG  |  2.427  |  DISEASES
3563  |  IL3RA  |  3.205  |  DISEASES
3614  |  IMPDH1  |  1.259  |  DISEASES
58493  |  INIP  |  1.379  |  DISEASES
3635  |  INPP5D  |  1.195  |  DISEASES
55174  |  INTS10  |  2.215  |  DISEASES
79711  |  IPO4  |  1.129  |  DISEASES
3662  |  IRF4  |  1.897  |  DISEASES
3664  |  IRF6  |  1.197  |  DISEASES
3676  |  ITGA4  |  1.981  |  DISEASES
3655  |  ITGA6  |  1.371  |  DISEASES
3683  |  ITGAL  |  2.107  |  DISEASES
3684  |  ITGAM  |  2.358  |  DISEASES
3704  |  ITPA  |  3.558  |  DISEASES
3716  |  JAK1  |  3.721  |  DISEASES
3717  |  JAK2  |  3.979  |  DISEASES
3718  |  JAK3  |  3.511  |  DISEASES
3725  |  JUN  |  2.146  |  DISEASES
9920  |  KBTBD11  |  2.316  |  DISEASES
3767  |  KCNJ11  |  2.752  |  DISEASES
23028  |  KDM1A  |  1.237  |  DISEASES
9682  |  KDM4A  |  1.201  |  DISEASES
55693  |  KDM4D  |  2.325  |  DISEASES
5927  |  KDM5A  |  1.417  |  DISEASES
7403  |  KDM6A  |  1.576  |  DISEASES
9371  |  KIF3B  |  1.559  |  DISEASES
3802  |  KIR2DL1  |  2.204  |  DISEASES
3803  |  KIR2DL2  |  1.285  |  DISEASES
3821  |  KLRC1  |  1.124  |  DISEASES
3903  |  LAIR1  |  1.082  |  DISEASES
26524  |  LATS2  |  1.019  |  DISEASES
10660  |  LBX1  |  1.542  |  DISEASES
85474  |  LBX2  |  1.546  |  DISEASES
3932  |  LCK  |  2.816  |  DISEASES
8861  |  LDB1  |  2.115  |  DISEASES
3953  |  LEPR  |  1.472  |  DISEASES
5641  |  LGMN  |  1.183  |  DISEASES
64077  |  LHPP  |  1.304  |  DISEASES
4004  |  LMO1  |  4.362  |  DISEASES
987  |  LRBA  |  1.004  |  DISEASES
164312  |  LRRN4  |  1.771  |  DISEASES
4049  |  LTA  |  1.605  |  DISEASES
104564224  |  LUNAR1  |  1.787  |  DISEASES
4067  |  LYN  |  3.182  |  DISEASES
54682  |  MANSC1  |  1.397  |  DISEASES
5609  |  MAP2K7  |  2.634  |  DISEASES
5599  |  MAPK8  |  1.538  |  DISEASES
4170  |  MCL1  |  3.474  |  DISEASES
4192  |  MDK  |  1.09  |  DISEASES
4193  |  MDM2  |  2.9  |  DISEASES
4205  |  MEF2A  |  1.786  |  DISEASES
4208  |  MEF2C  |  2.237  |  DISEASES
8972  |  MGAM  |  1.087  |  DISEASES
407975  |  MIR17HG  |  1.639  |  DISEASES
10962  |  MLLT11  |  1.664  |  DISEASES
4300  |  MLLT3  |  3.964  |  DISEASES
4311  |  MME  |  6.206  |  DISEASES
4352  |  MPL  |  1.998  |  DISEASES
9019  |  MPZL1  |  1.027  |  DISEASES
4487  |  MSX1  |  1.086  |  DISEASES
4507  |  MTAP  |  3.483  |  DISEASES
4522  |  MTHFD1  |  2.518  |  DISEASES
4524  |  MTHFR  |  4.587  |  DISEASES
2475  |  MTOR  |  2.989  |  DISEASES
4548  |  MTR  |  2.567  |  DISEASES
4580  |  MTX1  |  2.098  |  DISEASES
9961  |  MVP  |  2.35  |  DISEASES
83463  |  MXD3  |  1.682  |  DISEASES
4602  |  MYB  |  2.589  |  DISEASES
4609  |  MYC  |  4.402  |  DISEASES
23077  |  MYCBP2  |  1.14  |  DISEASES
4629  |  MYH11  |  2.542  |  DISEASES
4626  |  MYH8  |  1.14  |  DISEASES
4763  |  NF1  |  1.959  |  DISEASES
4791  |  NFKB2  |  1.137  |  DISEASES
159296  |  NKX2-3  |  1.642  |  DISEASES
644524  |  NKX2-4  |  1.883  |  DISEASES
1482  |  NKX2-5  |  2.281  |  DISEASES
4824  |  NKX3-1  |  1.213  |  DISEASES
4855  |  NOTCH4  |  2.56  |  DISEASES
4893  |  NRAS  |  3.14  |  DISEASES
22978  |  NT5C2  |  2.922  |  DISEASES
51667  |  NUB1  |  1.39  |  DISEASES
8650  |  NUMB  |  1.785  |  DISEASES
23511  |  NUP188  |  1.167  |  DISEASES
8021  |  NUP214  |  4.667  |  DISEASES
4942  |  OAT  |  2.397  |  DISEASES
286530  |  P2RY8  |  4.413  |  DISEASES
255967  |  PAN3  |  2.213  |  DISEASES
142  |  PARP1  |  2.217  |  DISEASES
5079  |  PAX5  |  5.296  |  DISEASES
5087  |  PBX1  |  6.212  |  DISEASES
84108  |  PCGF6  |  1.415  |  DISEASES
5208  |  PFKFB2  |  1.273  |  DISEASES
5236  |  PGM1  |  1.123  |  DISEASES
84295  |  PHF6  |  4.158  |  DISEASES
10745  |  PHTF1  |  1.014  |  DISEASES
8301  |  PICALM  |  2.164  |  DISEASES
118788  |  PIK3AP1  |  1.074  |  DISEASES
5293  |  PIK3CD  |  1.415  |  DISEASES
11040  |  PIM2  |  1.703  |  DISEASES
5305  |  PIP4K2A  |  2.985  |  DISEASES
5366  |  PMAIP1  |  1.921  |  DISEASES
6490  |  PMEL  |  1.653  |  DISEASES
25957  |  PNISR  |  1.252  |  DISEASES
4860  |  PNP  |  2.263  |  DISEASES
87178  |  PNPT1  |  1.396  |  DISEASES
728378  |  POTEF  |  1.382  |  DISEASES
5530  |  PPP3CA  |  1.824  |  DISEASES
23532  |  PRAME  |  2.727  |  DISEASES
639  |  PRDM1  |  1.279  |  DISEASES
5557  |  PRIM1  |  1.081  |  DISEASES
8842  |  PROM1  |  1.732  |  DISEASES
100505832  |  PROX1-AS1  |  1.443  |  DISEASES
221823  |  PRPS1L1  |  1.306  |  DISEASES
5688  |  PSMA7  |  1.641  |  DISEASES
5699  |  PSMB10  |  1.412  |  DISEASES
5720  |  PSME1  |  1.049  |  DISEASES
5728  |  PTEN  |  3.412  |  DISEASES
5744  |  PTHLH  |  1.623  |  DISEASES
11156  |  PTP4A3  |  1.191  |  DISEASES
5781  |  PTPN11  |  3.279  |  DISEASES
5788  |  PTPRC  |  4.031  |  DISEASES
5793  |  PTPRG  |  1.587  |  DISEASES
64901  |  RANBP17  |  3.606  |  DISEASES
5910  |  RAP1GDS1  |  3.058  |  DISEASES
2889  |  RAPGEF1  |  2.037  |  DISEASES
5923  |  RASGRF1  |  1.492  |  DISEASES
115727  |  RASGRP4  |  1.012  |  DISEASES
5928  |  RBBP4  |  1.339  |  DISEASES
92241  |  RCSD1  |  3.873  |  DISEASES
5970  |  RELA  |  1.008  |  DISEASES
56963  |  RGMA  |  1.438  |  DISEASES
253260  |  RICTOR  |  1.016  |  DISEASES
6016  |  RIT1  |  1.698  |  DISEASES
84282  |  RNF135  |  1.719  |  DISEASES
154214  |  RNF217  |  2.056  |  DISEASES
6146  |  RPL22  |  1.104  |  DISEASES
6125  |  RPL5  |  1.463  |  DISEASES
6194  |  RPS6  |  1.201  |  DISEASES
154661  |  RUNDC3B  |  1.271  |  DISEASES
862  |  RUNX1T1  |  1.335  |  DISEASES
860  |  RUNX2  |  1.164  |  DISEASES
9853  |  RUSC2  |  1.391  |  DISEASES
106633801  |  SCARNA28  |  2.249  |  DISEASES
387923  |  SERP2  |  1.998  |  DISEASES
462  |  SERPINC1  |  3.54  |  DISEASES
5345  |  SERPINF2  |  1.401  |  DISEASES
6421  |  SFPQ  |  1.098  |  DISEASES
10019  |  SH2B3  |  2.538  |  DISEASES
85413  |  SLC22A16  |  1.426  |  DISEASES
64078  |  SLC28A3  |  1.496  |  DISEASES
2030  |  SLC29A1  |  2.163  |  DISEASES
3177  |  SLC29A2  |  1.254  |  DISEASES
347734  |  SLC35B2  |  1.484  |  DISEASES
83650  |  SLC35G5  |  2.811  |  DISEASES
6520  |  SLC3A2  |  1.907  |  DISEASES
128710  |  SLX4IP  |  1.977  |  DISEASES
6622  |  SNCA  |  1.139  |  DISEASES
6643  |  SNX2  |  1.982  |  DISEASES
9576  |  SPAG6  |  1.428  |  DISEASES
6689  |  SPIB  |  3.077  |  DISEASES
6693  |  SPN  |  1.744  |  DISEASES
6714  |  SRC  |  3.106  |  DISEASES
23635  |  SSBP2  |  1.472  |  DISEASES
6489  |  ST8SIA1  |  1.343  |  DISEASES
6772  |  STAT1  |  1.296  |  DISEASES
6776  |  STAT5A  |  3.661  |  DISEASES
6491  |  STIL  |  2.327  |  DISEASES
6850  |  SYK  |  2.64  |  DISEASES
6887  |  TAL2  |  3.47  |  DISEASES
79718  |  TBL1XR1  |  2.205  |  DISEASES
6938  |  TCF12  |  2.652  |  DISEASES
6932  |  TCF7  |  1.403  |  DISEASES
54790  |  TET2  |  3.5  |  DISEASES
7018  |  TF  |  1.173  |  DISEASES
7037  |  TFRC  |  3.124  |  DISEASES
3195  |  TLX1  |  5.585  |  DISEASES
121256  |  TMEM132D  |  1.503  |  DISEASES
7124  |  TNF  |  2.596  |  DISEASES
3604  |  TNFRSF9  |  1.959  |  DISEASES
8741  |  TNFSF13  |  1.026  |  DISEASES
10673  |  TNFSF13B  |  2.4  |  DISEASES
10043  |  TOM1  |  2.855  |  DISEASES
7150  |  TOP1  |  1.809  |  DISEASES
7153  |  TOP2A  |  1.161  |  DISEASES
7187  |  TRAF3  |  1.072  |  DISEASES
90933  |  TRIM41  |  1.341  |  DISEASES
85480  |  TSLP  |  1.907  |  DISEASES
7102  |  TSPAN7  |  1.989  |  DISEASES
127933  |  UHMK1  |  1.483  |  DISEASES
79465  |  ULBP3  |  1.146  |  DISEASES
8615  |  USO1  |  2.475  |  DISEASES
23032  |  USP33  |  1.084  |  DISEASES
159195  |  USP54  |  1.442  |  DISEASES
7874  |  USP7  |  1.068  |  DISEASES
7409  |  VAV1  |  1.951  |  DISEASES
7422  |  VEGFA  |  1.54  |  DISEASES
7441  |  VPREB1  |  3.031  |  DISEASES
54838  |  WBP1L  |  2.202  |  DISEASES
23038  |  WDTC1  |  1.36  |  DISEASES
7490  |  WT1  |  3.624  |  DISEASES
331  |  XIAP  |  2.533  |  DISEASES
7514  |  XPO1  |  1.177  |  DISEASES
286451  |  YIPF6  |  2.59  |  DISEASES
7704  |  ZBTB16  |  1.815  |  DISEASES
84186  |  ZCCHC7  |  1.501  |  DISEASES
643836  |  ZFP62  |  1.476  |  DISEASES
57178  |  ZMIZ1  |  2.072  |  DISEASES
7750  |  ZMYM2  |  1.297  |  DISEASES
7757  |  ZNF208  |  1.079  |  DISEASES
171017  |  ZNF384  |  3.813  |  DISEASES
57116  |  ZNF695  |  1.42  |  DISEASES
84937  |  ZNRF1  |  1.384  |  DISEASES
Locus(Waiting for update.)
Disease ID 459
Disease acute lymphocytic leukemia
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:108)
HP:0001909  |  Leukemia  |  16
HP:0002664  |  Neoplasia  |  9
HP:0001880  |  Eosinophilia  |  7
HP:0010885  |  Aseptic necrosis  |  6
HP:0001733  |  Pancreatic inflammation  |  6
HP:0002665  |  Lymphoma  |  5
HP:0001873  |  Low platelet count  |  4
HP:0002017  |  Nausea and vomiting  |  3
HP:0100806  |  Sepsis  |  3
HP:0012115  |  Liver inflammation  |  3
HP:0001919  |  Acute renal failure  |  3
HP:0001513  |  Obesity  |  3
HP:0002013  |  Emesis  |  3
HP:0100543  |  Cognitive deficits  |  3
HP:0012531  |  Pain  |  3
HP:0001907  |  Thromboembolic disease  |  3
HP:0002090  |  Pneumonia  |  2
HP:0012378  |  Fatigue  |  2
HP:0012722  |  Heart block  |  2
HP:0001945  |  Fever  |  2
HP:0001876  |  Low blood cell count  |  2
HP:0000855  |  Insulin resistance  |  2
HP:0000083  |  Renal insufficiency  |  2
HP:0000105  |  Renal enlargement  |  2
HP:0012324  |  Myeloid leukemia  |  2
HP:0000708  |  Behavioral problems  |  2
HP:0001709  |  Complete heart block  |  2
HP:0001875  |  Neutropenia  |  2
HP:0006721  |  Acute lymphocytic leukemia  |  2
HP:0004808  |  Acute myelogenous leukemia  |  2
HP:0005523  |  Lymphoproliferative disorder  |  2
HP:0005506  |  Chronic myeloid leukemia  |  2
HP:0002488  |  Acute leukemias  |  2
HP:0004432  |  Agammaglobulinaemia  |  2
HP:0012393  |  Allergy  |  2
HP:0002754  |  Bone infection  |  2
HP:0009830  |  Peripheral neuritis  |  2
HP:0009763  |  Limb pain  |  1
HP:0200036  |  Skin nodule  |  1
HP:0012231  |  Exudative retinal detachment  |  1
HP:0002953  |  Vertebral compression fractures  |  1
HP:0002385  |  Paraparesis  |  1
HP:0001399  |  Liver failure  |  1
HP:0001698  |  Pericardial effusions  |  1
HP:0001605  |  Vocal cord paralysis  |  1
HP:0000501  |  Glaucoma  |  1
HP:0001067  |  Neurofibromas  |  1
HP:0100796  |  Orchitis  |  1
HP:0002671  |  Basalioma  |  1
HP:0003128  |  Lactic acidosis  |  1
HP:0004387  |  Enterocolitis  |  1
HP:0000572  |  Visual loss  |  1
HP:0002725  |  Systemic lupus erythematosus  |  1
HP:0000979  |  Purpura  |  1
HP:0000787  |  Renal calculi  |  1
HP:0000822  |  Hypertension  |  1
HP:0010628  |  Facial palsy, unilateral or bilateral  |  1
HP:0001369  |  Arthritis  |  1
HP:0003074  |  High blood glucose  |  1
HP:0000508  |  Drooping upper eyelid  |  1
HP:0001635  |  Congestive heart failure  |  1
HP:0001744  |  Splenomegaly  |  1
HP:0002863  |  Myelodysplastic syndrome  |  1
HP:0001268  |  Mental deterioration  |  1
HP:0002014  |  Diarrhea  |  1
HP:0100242  |  Sarcoma  |  1
HP:0004787  |  Fulminant hepatitis  |  1
HP:0001735  |  Acute pancreatitis  |  1
HP:0100658  |  Bacterial infection of skin  |  1
HP:0001638  |  Cardiomyopathy  |  1
HP:0001943  |  Hypoglycemia  |  1
HP:0003002  |  Breast carcinoma  |  1
HP:0000952  |  Yellow skin  |  1
HP:0003201  |  Rhabdomyolysis  |  1
HP:0002018  |  Nausea  |  1
HP:0000939  |  Osteoporosis  |  1
HP:0001287  |  Meningitis  |  1
HP:0100537  |  Inflammation of the fascia  |  1
HP:0004349  |  Reduced bone mineral density  |  1
HP:0040075  |  Hypopituitarism  |  1
HP:0000565  |  Inward turning of one or both eyes  |  1
HP:0002155  |  Increased triglycerides  |  1
HP:0001987  |  Hyperammonemia  |  1
HP:0030080  |  Burkitt lymphoma  |  1
HP:0001298  |  Encephalopathy  |  1
HP:0006554  |  Acute hepatic failure  |  1
HP:0200119  |  Acute liver inflammation  |  1
HP:0005549  |  Low blood neutrophil level since birth  |  1
HP:0002243  |  Protein-losing enteropathy  |  1
HP:0003072  |  Hypercalcemia  |  1
HP:0001954  |  Increased body temperature, episodic  |  1
HP:0001541  |  Ascites  |  1
HP:0000112  |  Nephropathy  |  1
HP:0001941  |  acidemia  |  1
HP:0100727  |  Histiocytosis  |  1
HP:0012636  |  Retinal vein occlusion  |  1
HP:0000541  |  Detached retina  |  1
HP:0000103  |  Polyuria  |  1
HP:0003256  |  Coagulopathy  |  1
HP:0012410  |  Pure red cell aplasia  |  1
HP:0002500  |  Leukoaraiosis  |  1
HP:0001959  |  Polydipsia  |  1
HP:0012246  |  Oculomotor nerve palsy  |  1
HP:0001903  |  Anemia  |  1
HP:0030731  |  Carcinoma  |  1
HP:0002170  |  Intracranial hemorrhage  |  1
HP:0002027  |  Abdominal pain  |  1
HP:0003470  |  Inability to move  |  1
Disease ID 459
Disease acute lymphocytic leukemia
Manually Symptom
UMLS  | Name(Total Manually Symptoms:35)
C2613439  |  extramedullary hematopoiesis
C2363910  |  fungal retinitis
C1801959  |  histiocytic medullary reticulosis
C1704275  |  pyomyositis
C1540912  |  hypereosinophilic syndrome
C1096248  |  alternaria infection
C1096022  |  trichosporon infection
C0948976  |  leukemia cutis
C0877445  |  candidemia
C0598392  |  lennox syndrome
C0519077  |  schizocytic hemolytic anemia
C0406650  |  linear iga bullous dermatosis
C0343957  |  cutaneous mucormycosis
C0276253  |  cytomegalovirus pneumonia
C0275565  |  disseminated actinomycosis
C0270612  |  leukoencephalopathy
C0240805  |  prodrome
C0206186  |  oral hairy leukoplakia
C0078048  |  varicella
C0043117  |  idiopathic thrombocytopenic purpura
C0039128  |  syphilis
C0037284  |  skin lesions
C0036690  |  septicemia
C0034067  |  emphysema
C0032285  |  pneumonia
C0027121  |  myositis
C0024441  |  macular hole
C0024314  |  lymphoproliferative disease
C0024291  |  hemophagocytic syndrome
C0023479  |  acute myelomonocytic leukemia
C0021345  |  infectious mononucleosis
C0019655  |  histoplasmosis
C0019360  |  zoster
C0014236  |  endophthalmitis
C0008049  |  varicella infection
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:34)
C1839611  |  n syndrome  |  7
C0009450  |  infection  |  6
C0014457  |  eosinophilia  |  4
C0030305  |  pancreatitis  |  4
C0948976  |  leukemia cutis  |  3
C0036690  |  sepsis  |  3
C0040053  |  thrombosis  |  3
C0036690  |  septicemia  |  2
C1568868  |  oral mucositis  |  2
C0032285  |  pneumonia  |  2
C1841971  |  glucocorticoid resistance  |  2
C0796095  |  c syndrome  |  2
C0026934  |  pleuropneumonia  |  1
C0019618  |  histiocytosis  |  1
C0001125  |  lactic acidosis  |  1
C0004610  |  bacteraemia  |  1
C0343957  |  cutaneous mucormycosis  |  1
C0085082  |  fungemia  |  1
C0025289  |  meningitis  |  1
C0887846  |  aleukemic leukemia cutis  |  1
C0005779  |  coagulopathy  |  1
C0008625  |  chromosomal abnormality  |  1
C0026946  |  fungal infection  |  1
C2062593  |  mesial temporal sclerosis  |  1
C0004030  |  aspergillosis  |  1
C0021311  |  infections  |  1
C0085584  |  encephalopathy  |  1
C0020598  |  hypoglycemia  |  1
C0026986  |  myelodysplastic syndrome  |  1
C1282208  |  preseptal cellulitis  |  1
C0041364  |  tumor lysis syndrome  |  1
C0007959  |  charcot-marie-tooth disease  |  1
C0040038  |  thromboembolism  |  1
C0000737  |  abdominal pain  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:114)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1045642193175995243ABCB1umls:C0023449BeFreeMDR1 C3435T polymorphism in Mexican children with acute lymphoblastic leukemia and in healthy individuals.0.0095004662008ABCB1787509329AT,G
rs1045642232441455243ABCB1umls:C0023449BeFreeIs the MDR1 C3435T polymorphism responsible for oral mucositis in children with acute lymphoblastic leukemia?0.0095004662012ABCB1787509329AT,G
rs1045642128517035243ABCB1umls:C0023449BeFreeAnalysis of single nucleotide polymorphism C3435T of the multidrug resistance gene MDR1 in acute lymphoblastic leukemia.0.0095004662003ABCB1787509329AT,G
rs1045642182433059429ABCG2umls:C0023449BeFreeTo investigate their possible roles in disease susceptibility and some disease characteristics we genotyped C3435T and G2677T/A polymorphisms in multidrug resistance-1 (MDR1) gene with a single base extension method and the G34A and C421A polymorphisms of the breast cancer resistance protein gene with an allelic discrimination system in 396 children with acute lymphoblastic leukaemia (ALL) and 192 control patients.0.0021715352008ABCB1787509329AT,G
rs104893636157764343233HOXD4umls:C0023449BeFreeThese comprised the germline c.242A>T (p.Glu81Val) missense mutation of HOXD4, detected in two children diagnosed with acute lymphoblastic leukemia (ALL).0.0002714422005HOXD3;HOXD42176151875AC,T
rs1051266184585676573SLC19A1umls:C0023449BeFreeWe investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced folate carrier 1 (RFC1) 80G/A polymorphisms were associated with toxicities during maintenance chemotherapy with mercaptopurine (6MP) and methotrexate (MTX) in children with acute lymphoblastic leukemia or lymphoblastic lymphoma.0.0027144192008SLC19A12145537880TC
rs1051266184585674524MTHFRumls:C0023449BeFreeWe investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced folate carrier 1 (RFC1) 80G/A polymorphisms were associated with toxicities during maintenance chemotherapy with mercaptopurine (6MP) and methotrexate (MTX) in children with acute lymphoblastic leukemia or lymphoblastic lymphoma.0.016015072008SLC19A12145537880TC
rs1051266228389486573SLC19A1umls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0027144192012SLC19A12145537880TC
rs1051266228389487298TYMSumls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0035287442012SLC19A12145537880TC
rs1051266228389486470SHMT1umls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0005428842012SLC19A12145537880TC
rs1051266228389484524MTHFRumls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.016015072012SLC19A12145537880TC
rs1051266229146006573SLC19A1umls:C0023449BeFreeThis study evaluated the effect of the G80A polymorphism in the RFC1 gene on survival and risk of relapse of acute lymphoblastic leukemia.0.0027144192012SLC19A12145537880TC
rs1051266228389482346FOLH1umls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0002714422012SLC19A12145537880TC
rs10821936245642281053CEBPEumls:C0023449BeFreeThe SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay.0.0010857672014ARID5B1061963818CT
rs1082831723996088861RUNX1umls:C0023449BeFreeThe rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas the rs3824662-associated risk was confined to nonhyperdiploid non-TEL-AML1 + ALL.0.0445164672014NANANANANA
rs10994982245642281053CEBPEumls:C0023449BeFreeThe SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay.0.0010857672014ARID5B1061950345AG
rs111033557158632067036TFR2umls:C0023449BeFreeWe studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).0.0002714422005HFE626090939GA
rs111033557158632063077HFEumls:C0023449BeFreeWe studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).0.0008143262005HFE626090939GA
rs111033563158632067036TFR2umls:C0023449BeFreeWe studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).0.0002714422005HFE626092916AC
rs111033563158632063077HFEumls:C0023449BeFreeWe studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).0.0008143262005HFE626092916AC
rs11978267245642281053CEBPEumls:C0023449BeFreeThe SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay.0.0010857672014IKZF1;LOC105375275750398606AG
rs121909646NA2322FLT3umls:C0023449CLINVARNA0.130314791NAFLT31328018504TA
rs1219134592258742225ABL1umls:C0023449BeFreeThe BCR-ABL T315I kinase domain mutation is insensitive to dasatinib therapy for Philadelphia-positive acute lymphoid leukemia (Ph + ALL) patients.0.063788842012ABL19130872896CT
rs1219134592047144725ABL1umls:C0023449BeFreeThis cell line may provide a useful model for in vitro and in vivo cellular and molecular studies of BCR-ABL-positive ALL with T315I mutation.0.063788842010ABL19130872896CT
rs1219134591699060325ABL1umls:C0023449BeFreeMK-0457, a novel kinase inhibitor, is active in patients with chronic myeloid leukemia or acute lymphocytic leukemia with the T315I BCR-ABL mutation.0.063788842007ABL19130872896CT
rs121913488NA2322FLT3umls:C0023449CLINVARNA0.130314791NAFLT31328018505CT,G,A
rs13181183492682068ERCC2umls:C0023449BeFreeIn this analysis, small associations of the XPD Lys 751 Gln polymorphism with cancer risk for esophageal cancer [for Lys/Gln versus Lys/Lys: odds ratio (OR), 1.34; 95% confidence interval (95% CI), 1.10-1.64; for Gln/Gln versus Lys/Lys: OR, 1.61; 95% CI, 1.16-2.25] and acute lymphoblastic leukemia (for Gln/Gln versus Lys/Lys: OR, 1.83; 95% CI, 1.21-2.75) are revealed.0.0008143262008ERCC2;KLC31945351661TA,G
rs140422742154626111576CYP3A4umls:C0023449BeFreeTowards this aim we analyzed the CYP3A4-290A/G substitution and three NR3C1 polymorphisms (200G/A, 1220A/G and BclI RFLP) in 222 children with acute lymphoblastic leukemia (ALL) whose treatment protocols, among other components, contained corticosteroid drugs.0.0016286512004CYP3A4799778046TC,G
rs140422742154626112908NR3C1umls:C0023449BeFreeTowards this aim we analyzed the CYP3A4-290A/G substitution and three NR3C1 polymorphisms (200G/A, 1220A/G and BclI RFLP) in 222 children with acute lymphoblastic leukemia (ALL) whose treatment protocols, among other components, contained corticosteroid drugs.0.0040716282004CYP3A4799778046TC,G
rs146519482158632067036TFR2umls:C0023449BeFreeWe studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).0.0002714422005HFE626091475GC,T
rs146519482158632063077HFEumls:C0023449BeFreeWe studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).0.0008143262005HFE626091475GC,T
rs1695192567682950GSTP1umls:C0023449BeFreeRole of GSTM1 (Present/Null) and GSTP1 (Ile105Val) polymorphisms in susceptibility to acute lymphoblastic leukemia among the South Indian population.0.0027144192008GSTP11167585218AG
rs1695192567682944GSTM1umls:C0023449BeFreeRole of GSTM1 (Present/Null) and GSTP1 (Ile105Val) polymorphisms in susceptibility to acute lymphoblastic leukemia among the South Indian population.0.0059717212008GSTP11167585218AG
rs1799945158632067036TFR2umls:C0023449BeFreeWe studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).0.0002714422005HFE626090951CG
rs1799945158632063077HFEumls:C0023449BeFreeWe studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).0.0008143262005HFE626090951CG
rs1800562158632063077HFEumls:C0023449BeFreeWe studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).0.0008143262005HFE626092913GA
rs1800562158632067036TFR2umls:C0023449BeFreeWe studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).0.0002714422005HFE626092913GA
rs1801131236528034524MTHFRumls:C0023449BeFreeMultiple Cox regression analyses revealed an association of minimal residual disease (hazard ratio 7.3; P < .001) and methylenetetrahydrofolate reductase rs1801131 (hazard ratio 3.1; P = .015) with event-free survival in the ALL-BFM 2000 study population.0.016015072013MTHFR111794419TG
rs1801394242616784552MTRRumls:C0023449BeFreeThis meta-analysis suggests that MTRR A66G GG is associated with decreased risk of leukemia in a Caucasian population and in children, especially for ALL.0.0008143262015MTRR;FASTKD357870860AG
rs1805087216439524548MTRumls:C0023449BeFreeIn order to determine the influence of polymorphism in thymidylate synthase (TS 28-bp repeat) and methionine synthase (MS A2756G) genes on the susceptibility to acute lymphoblastic leukemia (ALL), 73 children with ALL and 128 age and sex matched unrelated healthy individuals from the Kermanshah Province of Iran were screened.0.0010857672012MTR1236885200AG
rs1805087216439527298TYMSumls:C0023449BeFreeIn order to determine the influence of polymorphism in thymidylate synthase (TS 28-bp repeat) and methionine synthase (MS A2756G) genes on the susceptibility to acute lymphoblastic leukemia (ALL), 73 children with ALL and 128 age and sex matched unrelated healthy individuals from the Kermanshah Province of Iran were screened.0.0035287442012MTR1236885200AG
rs19668622067016483478ARHGAP24umls:C0023449BeFreeThis study suggested rs1966862 (ARHGAP24) and the other SNPs to be predictive factors for drug-induced hepatotoxicity during the maintenance phase in pediatric patients with ALL or LBL.0.0019000932010ARHGAP24485766908AG
rs1979277228389486470SHMT1umls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0005428842012SHMT11718328782GA
rs1979277228389482346FOLH1umls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0002714422012SHMT11718328782GA
rs1979277228389487298TYMSumls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0035287442012SHMT11718328782GA
rs1979277228389486573SLC19A1umls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0027144192012SHMT11718328782GA
rs1979277228389484524MTHFRumls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.016015072012SHMT11718328782GA
rs2032582182433059429ABCG2umls:C0023449BeFreeTo investigate their possible roles in disease susceptibility and some disease characteristics we genotyped C3435T and G2677T/A polymorphisms in multidrug resistance-1 (MDR1) gene with a single base extension method and the G34A and C421A polymorphisms of the breast cancer resistance protein gene with an allelic discrimination system in 396 children with acute lymphoblastic leukaemia (ALL) and 192 control patients.0.0021715352008ABCB1787531302AT,C
rs2032582241425465243ABCB1umls:C0023449BeFreeIn the subgroup analysis, according to the type of leukemia, significant association was found between MDR1 G2677T polymorphism and myeloid leukemia but not lymphoblastic leukemia (TT vs. GG: OR = 0.66, 95% CI = 0.46-0.95, P = 0.026; TT vs.0.0095004662013ABCB1787531302AT,C
rs2231137182433059429ABCG2umls:C0023449BeFreeTo investigate their possible roles in disease susceptibility and some disease characteristics we genotyped C3435T and G2677T/A polymorphisms in multidrug resistance-1 (MDR1) gene with a single base extension method and the G34A and C421A polymorphisms of the breast cancer resistance protein gene with an allelic discrimination system in 396 children with acute lymphoblastic leukaemia (ALL) and 192 control patients.0.0021715352008ABCG2488139962CT
rs2231142182433059429ABCG2umls:C0023449BeFreeTo investigate their possible roles in disease susceptibility and some disease characteristics we genotyped C3435T and G2677T/A polymorphisms in multidrug resistance-1 (MDR1) gene with a single base extension method and the G34A and C421A polymorphisms of the breast cancer resistance protein gene with an allelic discrimination system in 396 children with acute lymphoblastic leukaemia (ALL) and 192 control patients.0.0021715352008ABCG2488131171GT
rs2239633251951211053CEBPEumls:C0023449BeFreeThe CEBPE rs2239633 polymorphism increased B cell ALL risk (OR = 1.29, 95 % CI 1.15-1.44, P < 0.01) and B hyperdiploid ALL risk (OR = 1.84, 95 % CI 1.40-2.43, P < 0.01).0.0010857672014CEBPE1423119848GA
rs2239633245642281053CEBPEumls:C0023449BeFreeThe SNPs (IKZF1 rs11978267, ARID5B rs10821936 and rs10994982, CEBPE rs2239633) were genotyped in 265 cases [169 acute lymphoblastic leukemia (ALL) and 96 acute myeloid leukaemia (AML)] and 505 controls by Taqman allelic discrimination assay.0.0010857672014CEBPE1423119848GA
rs2536219732402475MTORumls:C0023449BeFreeWe observed that the variant genotype TC of mTOR rs2536 was associated with a significantly decreased risk of childhood ALL (adjusted odds ratio [OR] = 0.67, 95% confidence interval [CI] = 0.46-0.96), and the association was more pronounced in high-risk ALL and T-phenotype ALL groups.0.0002714422012MTOR111106656TC
rs267607131100771647150TOP1umls:C0023449BeFreeIn previous studies, we isolated a mutant DNA topoisomerase I cDNA from a camptothecin (CPT)-resistant human T-lymphoblastic leukemia cell line, CPT-K5, and demonstrated that an amino acid change from Asp to Gly at residue 533 is responsible for the CPT resistance of the enzyme.0.0002714421999TOP1;PLCG1-AS12041114115AG
rs28934595158632063077HFEumls:C0023449BeFreeWe studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).0.0008143262005HFE626091354AC
rs28934595158632067036TFR2umls:C0023449BeFreeWe studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).0.0002714422005HFE626091354AC
rs28934889158632063077HFEumls:C0023449BeFreeWe studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).0.0008143262005HFE626090921GA
rs28934889158632067036TFR2umls:C0023449BeFreeWe studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).0.0002714422005HFE626090921GA
rs35947132159213915551PRF1umls:C0023449BeFreeWe screened 100 children with acute lymphoblastic leukemia (ALL) to assess the incidence of single amino acid change A91V in perforin.0.0008143262005PRF11070600631GA
rs368005287154626111576CYP3A4umls:C0023449BeFreeTowards this aim we analyzed the CYP3A4-290A/G substitution and three NR3C1 polymorphisms (200G/A, 1220A/G and BclI RFLP) in 222 children with acute lymphoblastic leukemia (ALL) whose treatment protocols, among other components, contained corticosteroid drugs.0.0016286512004CYP3A4799762071CT
rs368005287154626112908NR3C1umls:C0023449BeFreeTowards this aim we analyzed the CYP3A4-290A/G substitution and three NR3C1 polymorphisms (200G/A, 1220A/G and BclI RFLP) in 222 children with acute lymphoblastic leukemia (ALL) whose treatment protocols, among other components, contained corticosteroid drugs.0.0040716282004CYP3A4799762071CT
rs368087026184585674524MTHFRumls:C0023449BeFreeWe investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced folate carrier 1 (RFC1) 80G/A polymorphisms were associated with toxicities during maintenance chemotherapy with mercaptopurine (6MP) and methotrexate (MTX) in children with acute lymphoblastic leukemia or lymphoblastic lymphoma.0.016015072008SLC19A12145530890GA
rs368087026228389486573SLC19A1umls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0027144192012SLC19A12145530890GA
rs368087026228389486470SHMT1umls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0005428842012SLC19A12145530890GA
rs368087026184585676573SLC19A1umls:C0023449BeFreeWe investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced folate carrier 1 (RFC1) 80G/A polymorphisms were associated with toxicities during maintenance chemotherapy with mercaptopurine (6MP) and methotrexate (MTX) in children with acute lymphoblastic leukemia or lymphoblastic lymphoma.0.0027144192008SLC19A12145530890GA
rs368087026228389487298TYMSumls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0035287442012SLC19A12145530890GA
rs368087026228389482346FOLH1umls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0002714422012SLC19A12145530890GA
rs368087026228389484524MTHFRumls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.016015072012SLC19A12145530890GA
rs368939818228389484524MTHFRumls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.016015072012FOLH11149156734GA
rs368939818228389487298TYMSumls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0035287442012FOLH11149156734GA
rs368939818228389486573SLC19A1umls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0027144192012FOLH11149156734GA
rs368939818228389482346FOLH1umls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0002714422012FOLH11149156734GA
rs368939818228389486470SHMT1umls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0005428842012FOLH11149156734GA
rs3731217204538391029CDKN2Aumls:C0023449BeFreeUsing data from a genome-wide association study of 907 individuals with childhood acute lymphoblastic leukemia (cases) and 2,398 controls and with validation in samples totaling 2,386 cases and 2,419 controls, we have shown that common variation at 9p21.3 (rs3731217, intron 1 of CDKN2A) influences acute lymphoblastic leukemia risk (odds ratio = 0.71, P = 3.01 x 10(-11)), irrespective of cell lineage.0.020358142010CDKN2A921984662AC
rs382466223996088861RUNX1umls:C0023449BeFreeThe rs10828317 association was shown to be specifically associated with hyperdiploid ALL, whereas the rs3824662-associated risk was confined to nonhyperdiploid non-TEL-AML1 + ALL.0.0445164672014GATA3108062245CA
rs386514057228389486470SHMT1umls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0005428842012NANANANANA
rs386514057184585676573SLC19A1umls:C0023449BeFreeWe investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced folate carrier 1 (RFC1) 80G/A polymorphisms were associated with toxicities during maintenance chemotherapy with mercaptopurine (6MP) and methotrexate (MTX) in children with acute lymphoblastic leukemia or lymphoblastic lymphoma.0.0027144192008NANANANANA
rs386514057228389487298TYMSumls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0035287442012NANANANANA
rs386514057228389484524MTHFRumls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.016015072012NANANANANA
rs386514057228389486573SLC19A1umls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0027144192012NANANANANA
rs386514057228389482346FOLH1umls:C0023449BeFreeChildren with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.0.0002714422012NANANANANA
rs386514057184585674524MTHFRumls:C0023449BeFreeWe investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced folate carrier 1 (RFC1) 80G/A polymorphisms were associated with toxicities during maintenance chemotherapy with mercaptopurine (6MP) and methotrexate (MTX) in children with acute lymphoblastic leukemia or lymphoblastic lymphoma.0.016015072008NANANANANA
rs386514057229146006573SLC19A1umls:C0023449BeFreeThis study evaluated the effect of the G80A polymorphism in the RFC1 gene on survival and risk of relapse of acute lymphoblastic leukemia.0.0027144192012NANANANANA
rs386626619205388003717JAK2umls:C0023449BeFreeMoreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81).0.0054288372010NANANANANA
rs386626619205388003417IDH1umls:C0023449BeFreeMoreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81).0.0010857672010NANANANANA
rs386626619205388003418IDH2umls:C0023449BeFreeMoreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81).0.0010857672010NANANANANA
rs397507444231832384524MTHFRumls:C0023449BeFreeC677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase gene: effect on methotrexate-related toxicity in adult acute lymphoblastic leukaemia.0.016015072013MTHFR111794407TG
rs397507444193910364524MTHFRumls:C0023449BeFreeMethylenetetrahydrofolate reductase C677T and A1298C gene polymorphisms and therapy-related toxicity in children treated for acute lymphoblastic leukemia and non-Hodgkin lymphoma.0.016015072009MTHFR111794407TG
rs397507444214951604524MTHFRumls:C0023449BeFreeA meta-analysis of MTHFR C677T and A1298C polymorphisms and risk of acute lymphoblastic leukemia in children.0.016015072012MTHFR111794407TG
rs397507444220173054524MTHFRumls:C0023449BeFreeThe aim of the present study was to determine the role of the two most common polymorphisms of the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene, MTHFR C677T and A1298C, and their interaction on the susceptibility to ALL.0.016015072012MTHFR111794407TG
rs397507444203675624524MTHFRumls:C0023449BeFreeWe conducted a case-control study in 95 north Indian children with acute lymphoblastic leukemia (ALL) and 255 controls, to investigate the role of MTHFR C677T and A1298C polymorphisms as risk factors in the development of ALL.0.016015072010MTHFR111794407TG
rs397507444167069304524MTHFRumls:C0023449BeFreeMethylenetetrahydrofolate reductase A1298C genotypes are associated with the risks of acute lymphoblastic leukaemia and chronic myelogenous leukaemia in the Korean population.0.016015072006MTHFR111794407TG
rs397507444170230461728NQO1umls:C0023449BeFreeMost studies found a strong association between the polymorphisms MTHFR, C677T or A1298C, and NQO1*2 or *3 and the risk of acute lymphoblastic leukemia (ALL).0.0038001862006MTHFR111794407TG
rs397507444242377084524MTHFRumls:C0023449BeFreeThe effect of RFC G80A polymorphism in Cretan children with acute lymphoblastic leukemia and its interaction with MTHFR C677T and A1298C polymorphisms.0.016015072013MTHFR111794407TG
rs397507444188047024524MTHFRumls:C0023449BeFreeCertain common polymorphisms within the MTHFR gene (C677T, A1298C) result in reduced enzymatic activity and have been associated with reduced risk for a variety of cancers such as acute lymphocytic leukemia, lung and colorectal cancer.0.016015072008MTHFR111794407TG
rs397507444170230464524MTHFRumls:C0023449BeFreeMost studies found a strong association between the polymorphisms MTHFR, C677T or A1298C, and NQO1*2 or *3 and the risk of acute lymphoblastic leukemia (ALL).0.016015072006MTHFR111794407TG
rs397507520223151875781PTPN11umls:C0023449BeFreeOccurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.0.0019000932012PTPN1112112453279GC,T
rs41326012459798310320IKZF1umls:C0023449BeFreeSince recently conducted genome-wide association (GWA) studies revealed that the common low-penetrance susceptibility allele at 7p12.2 (IKZF1 gene) confers an increased risk of pediatric ALL, we investigated whether the risk allele at rs4132601 also coexists with well-established prognostic factors, among 508 Polish pediatric patients with newly diagnosed ALL.0.0114005592015IKZF1750402906TG
rs4145802460482810848PPP1R13Lumls:C0023449BeFreeCommon variations rs6966 (3' UTR of PPP1R13L, chr 19q13.32, P = 4.55 × 10(-9)) and rs414580 (intron 2 of MSR1, chr 8p22, P = 6.09 × 10(-8)) were significantly associated with ALL.0.0002714422014MSR1816177793TC,A
rs414580246048284481MSR1umls:C0023449BeFreeCommon variations rs6966 (3' UTR of PPP1R13L, chr 19q13.32, P = 4.55 × 10(-9)) and rs414580 (intron 2 of MSR1, chr 8p22, P = 6.09 × 10(-8)) were significantly associated with ALL.0.0002714422014MSR1816177793TC,A
rs41490562323366210599SLCO1B1umls:C0023449BeFreeThis replicates findings using different schedules of high-dose methotrexate in St Jude ALL treatment protocols; a combined meta-analysis yields a P value of 5.7 x 10(-19) for the association of methotrexate clearance with SLCO1B1 SNP rs4149056.0.0002714422013SLCO1B11221178615TC
rs587776834NA2322FLT3umls:C0023449CLINVARNA0.130314791NAFLT31328034140ATC-
rs6021191259876554773NFATC2umls:C0023449BeFreeRNA-seq data available from 65 SJCRH ALL tumor samples and 52 Yoruba HapMap samples showed that samples carrying the rs6021191 variant had higher NFATC2 expression compared with noncarriers (P = 1.1 × 10(-3) and 0.03, respectively).0.0002714422015NFATC22051419700AT
rs61754966153382734683NBNumls:C0023449BeFreeFour children with acute lymphoblastic leukemia have been reported to be heterozygous for a germline and/or somatic missense mutation in NBS1, leading to the I171V substitution.0.0010857672004NBN889978293TC
rs69662460482810848PPP1R13Lumls:C0023449BeFreeCommon variations rs6966 (3' UTR of PPP1R13L, chr 19q13.32, P = 4.55 × 10(-9)) and rs414580 (intron 2 of MSR1, chr 8p22, P = 6.09 × 10(-8)) were significantly associated with ALL.0.0002714422014PPP1R13L1945379704TA
rs6966246048284481MSR1umls:C0023449BeFreeCommon variations rs6966 (3' UTR of PPP1R13L, chr 19q13.32, P = 4.55 × 10(-9)) and rs414580 (intron 2 of MSR1, chr 8p22, P = 6.09 × 10(-8)) were significantly associated with ALL.0.0002714422014PPP1R13L1945379704TA
rs72481843154626111576CYP3A4umls:C0023449BeFreeTowards this aim we analyzed the CYP3A4-290A/G substitution and three NR3C1 polymorphisms (200G/A, 1220A/G and BclI RFLP) in 222 children with acute lymphoblastic leukemia (ALL) whose treatment protocols, among other components, contained corticosteroid drugs.0.0016286512004NR3C15143300685CG
rs72481843154626112908NR3C1umls:C0023449BeFreeTowards this aim we analyzed the CYP3A4-290A/G substitution and three NR3C1 polymorphisms (200G/A, 1220A/G and BclI RFLP) in 222 children with acute lymphoblastic leukemia (ALL) whose treatment protocols, among other components, contained corticosteroid drugs.0.0040716282004NR3C15143300685CG
rs77375493205388003717JAK2umls:C0023449BeFreeMoreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81).0.0054288372010JAK2;INSL695073770GA,T
rs77375493205388003417IDH1umls:C0023449BeFreeMoreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81).0.0010857672010JAK2;INSL695073770GA,T
rs77375493205388003418IDH2umls:C0023449BeFreeMoreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81).0.0010857672010JAK2;INSL695073770GA,T
rs80338880158632067036TFR2umls:C0023449BeFreeWe studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).0.0002714422005TFR2;LOC1053754287100633100GC
rs80338880158632063077HFEumls:C0023449BeFreeWe studied the prevalence of 12 hereditary hemochromatosis (HH) gene mutations (C282Y, V53M, V59M, H63D, H63H, S56C, Q127H, E168Q, E168X, W169X and Q283P in the HFE gene and Y250X in the TFR2 gene) and its correlation with the iron status in 82 adult patients with acute leukemia (AL); 48 patients (58.5%) were affected by acute myeloid leukemia (AML) and 34 patients (41.5%) by acute lymphoblastic leukemia (ALL); 27 patients (32.9%) had at least one HH gene mutation (6 heterozygous for C282Y, 6 homozygous for H63D, 13 heterozygous for H63D and 2 heterozygous for S56C).0.0008143262005TFR2;LOC1053754287100633100GC
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:5)
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
2136720344rs3768998GTrs3768998210720455.82E-04Asparaginase sensitivity in cell linesNANA83 European LCL cell lines (HapMap)European(83)ALL(83)EUR(83)ALL(83)Asparaginase sensitivity in blood cell linesHPOID:0006721Acute lymphatic leukemiaDOID:9952acute lymphocytic leukemiaNANANANALeukemiaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
5153170374rs4958351GA,C,Trs4958351205927264.00E-07Asparaginase hypersensitivity in acute lymphoblastic leukemiaNANA322 children with acute lymphoblastic leukemiaNOPOP(322)ALL(322)NOPOP(322)ALL(322)Asparaginase hypersensitivity in acute lymphoblastic leukemiaHPOID:0006721Acute lymphatic leukemiaDOID:9952acute lymphocytic leukemiaNANANANALeukemiaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
1920887230rs12609807AGrs12609807210720454.90E-06Asparaginase sensitivity in cell linesNANA83 European LCL cell lines (HapMap)European(83)ALL(83)EUR(83)ALL(83)Asparaginase sensitivity in blood cell linesHPOID:0006721Acute lymphatic leukemiaDOID:9952acute lymphocytic leukemiaNANANANALeukemiaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tA
2240757228rs8135371ACrs8135371210720456.93E-04Asparaginase sensitivity in cell linesNANA83 European LCL cell lines (HapMap)European(83)ALL(83)EUR(83)ALL(83)Asparaginase sensitivity in blood cell linesHPOID:0006721Acute lymphatic leukemiaDOID:9952acute lymphocytic leukemiaNANANANALeukemiaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
2240757228rs8135371ACrs8135371210720457.40E-04ADSL gene expression in lymphoblastoid cell linesNANA83 European LCL cell lines (HapMap)European(83)ALL(83)EUR(83)ALL(83)Asparaginase sensitivity in blood cell linesHPOID:0006721Acute lymphatic leukemiaDOID:9952acute lymphocytic leukemiaNANANANALeukemiaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 459
Disease acute lymphocytic leukemia
Case(Waiting for update.)