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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   nephroblastoma
  

Disease ID 117
Disease nephroblastoma
Definition
pediatric nephroblastoma originating from embryonic kidney stem cells; usually affects children before the fifth year, but may occur in the fetus or rarely in later life; caused by defects in one or more tumor suppressor genes.
Synonym
[m]nephroblastoma nos
embryonal adenosarcoma
embryonal nephroma
kidney wilms tumor
kidney, adenomyosarcoma, embryonal
kidney, carcinosarcoma, embryonal
kidney, embryoma
kidney, embryonal mixed tumor
nephroblastoma (disorder)
nephroblastoma (m-89603)
nephroblastoma (morphologic abnormality)
nephroblastoma (wilms tumor)
nephroblastoma, malignant
nephroblastoma, nos
nephroblastomas
nephroma
nephroma, nos
nephromas
perlman syndrome
renal adenosarcoma
renal cancer, wilms
renal wilms tumor
renal wilms' tumor
tumor wilm's
tumor wilms
tumor wilms'
tumor wilms's
tumor, wilms
tumor, wilms'
tumors wilm's
tumors wilms
wilm tumor
wilm's tumor
wilms tumor
wilms tumor (nephroblastoma)
wilms tumor 1
wilms tumor [disease/finding]
wilms tumor of the kidney
wilms tumour
wilms' tumor
wilms' tumor and other childhood kidney tumors
wilms' tumor of the kidney
wilms' tumour
wt1
Orphanet
OMIM
DOID
UMLS
C0027708
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:64)
C0153676  |  lung metastasis  |  3
C1261473  |  sarcoma  |  3
C0040053  |  thrombus  |  3
C0153676  |  lung metastases  |  3
C0153676  |  pulmonary metastases  |  3
C0020538  |  hypertension  |  3
C0027708  |  wilm's tumor  |  2
C0553580  |  ewing's sarcoma  |  2
C0023418  |  leukemia  |  2
C0027726  |  nephrotic syndrome  |  2
C0027697  |  nephritis  |  2
C0555198  |  malignant glioma  |  2
C0039446  |  telangiectasia  |  1
C0032461  |  polycythaemia  |  1
C0004134  |  ataxia  |  1
C0022658  |  renal disease  |  1
C0008479  |  chondrosarcoma  |  1
C0002871  |  anemia  |  1
C0035412  |  rhabdomyosarcoma  |  1
C1140680  |  ovarian cancer  |  1
C0007134  |  renal carcinoma  |  1
C0035078  |  renal failure  |  1
C0023467  |  acute myelogenous leukemia  |  1
C0027819  |  neuroblastoma  |  1
C0024115  |  lung disease  |  1
C0030486  |  paraplegia  |  1
C0015625  |  fanconi anemia  |  1
C0494165  |  liver metastasis  |  1
C0677886  |  epithelial ovarian cancer  |  1
C1370740  |  adrenal carcinoma  |  1
C0740394  |  hyperuricemia  |  1
C0950121  |  denys-drash syndrome  |  1
C0023467  |  acute myeloid leukemia  |  1
C0024143  |  lupus nephritis  |  1
C0206656  |  embryonal rhabdomyosarcoma  |  1
C0010481  |  cushing syndrome  |  1
C1140680  |  ovarian ca  |  1
C0004779  |  gorlin syndrome  |  1
C0007134  |  renal cell carcinoma  |  1
C0024305  |  non-hodgkin lymphoma  |  1
C0206633  |  angiomyolipoma  |  1
C0022972  |  myasthenic syndrome  |  1
C0022972  |  lambert-eaton myasthenic syndrome  |  1
C1266045  |  metanephric adenoma  |  1
C0022661  |  chronic kidney disease  |  1
C0020541  |  portal hypertension  |  1
C0686619  |  lymph node metastases  |  1
C0041341  |  tuberous sclerosis complex  |  1
C0006142  |  breast cancer  |  1
C0001430  |  adenoma  |  1
C0950121  |  drash syndrome  |  1
C0936282  |  blastoma  |  1
C0022661  |  end stage renal disease  |  1
C0005859  |  bloom syndrome  |  1
C0020598  |  hypoglycaemia  |  1
C0019829  |  hodgkin lymphoma  |  1
C0041341  |  phacomatosis  |  1
C0041341  |  tuberous sclerosis  |  1
C0021843  |  bowel obstruction  |  1
C0948265  |  metabolic syndrome  |  1
C0392784  |  dermatofibrosarcoma protuberans  |  1
C0022658  |  kidney disease  |  1
C0023470  |  myelogenous leukemia  |  1
C0555198  |  malignant gliomas  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:16)
3481  |  IGF2  |  CTD_human
255738  |  PCSK9  |  GWASCAT
675  |  BRCA2  |  CTD_human;UNIPROT
7490  |  WT1  |  CTD_human;ORPHANET;UNIPROT
1499  |  CTNNB1  |  CTD_human
129563  |  DIS3L2  |  ORPHANET
6948  |  TCN2  |  GWASCAT
1740  |  DLG2  |  GWASCAT
7428  |  VHL  |  CTD_human
283120  |  H19  |  ORPHANET
5978  |  REST  |  CTD_human
11281  |  POU6F2  |  ORPHANET
11010  |  GLIPR1  |  CTD_human
2719  |  GPC3  |  CTD_human;UNIPROT
4810  |  NHS  |  GWASCAT
1653  |  DDX1  |  GWASCAT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:8)
7490  |  WT1  |  CIPHER;CTD_human
1499  |  CTNNB1  |  CTD_human
5978  |  REST  |  CTD_human
11010  |  GLIPR1  |  CTD_human
2719  |  GPC3  |  CTD_human
7428  |  VHL  |  CTD_human
675  |  BRCA2  |  CTD_human
3481  |  IGF2  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:224)
6833  |  ABCC8  |  1.736  |  DISEASES
25  |  ABL1  |  2.424  |  DISEASES
60  |  ACTB  |  1.208  |  DISEASES
174  |  AFP  |  2.19  |  DISEASES
60529  |  ALX4  |  1.511  |  DISEASES
23600  |  AMACR  |  1.694  |  DISEASES
367  |  AR  |  1.504  |  DISEASES
430  |  ASCL2  |  1.647  |  DISEASES
567  |  B2M  |  1.186  |  DISEASES
8938  |  BAIAP3  |  1.733  |  DISEASES
618  |  BCYRN1  |  4.017  |  DISEASES
627  |  BDNF  |  1.199  |  DISEASES
10904  |  BLCAP  |  1.068  |  DISEASES
675  |  BRCA2  |  1.218  |  DISEASES
777  |  CACNA1E  |  1.132  |  DISEASES
797  |  CALCB  |  1.061  |  DISEASES
79872  |  CBLL1  |  1.489  |  DISEASES
10575  |  CCT4  |  1.113  |  DISEASES
23607  |  CD2AP  |  1.422  |  DISEASES
960  |  CD44  |  1.615  |  DISEASES
966  |  CD59  |  1.471  |  DISEASES
9308  |  CD83  |  1.42  |  DISEASES
942  |  CD86  |  1.14  |  DISEASES
4267  |  CD99  |  2.344  |  DISEASES
79577  |  CDC73  |  1.072  |  DISEASES
1028  |  CDKN1C  |  4.056  |  DISEASES
1028  |  CDKN1C  |  2.083  |  DISEASES
1045  |  CDX2  |  1.263  |  DISEASES
9391  |  CIAO1  |  3.315  |  DISEASES
4435  |  CITED1  |  3.959  |  DISEASES
10256  |  CNKSR1  |  1.693  |  DISEASES
57175  |  CORO1B  |  1.794  |  DISEASES
1382  |  CRABP2  |  1.365  |  DISEASES
1471  |  CST3  |  1.227  |  DISEASES
1490  |  CTGF  |  2.156  |  DISEASES
29119  |  CTNNA3  |  1.448  |  DISEASES
1499  |  CTNNB1  |  3.86  |  DISEASES
56998  |  CTNNBIP1  |  1.333  |  DISEASES
80319  |  CXXC4  |  1.372  |  DISEASES
3491  |  CYR61  |  1.914  |  DISEASES
64858  |  DCLRE1B  |  1.447  |  DISEASES
55635  |  DEPDC1  |  2.082  |  DISEASES
1607  |  DGKB  |  1.065  |  DISEASES
23405  |  DICER1  |  2.321  |  DISEASES
23405  |  DICER1  |  1.929  |  DISEASES
22894  |  DIS3  |  5.229  |  DISEASES
22894  |  DIS3  |  1.959  |  DISEASES
115752  |  DIS3L  |  4.862  |  DISEASES
115752  |  DIS3L  |  2.151  |  DISEASES
8788  |  DLK1  |  1.449  |  DISEASES
29102  |  DROSHA  |  1.96  |  DISEASES
1781  |  DYNC1I2  |  2.545  |  DISEASES
1961  |  EGR4  |  3.032  |  DISEASES
2109  |  ETFB  |  1.206  |  DISEASES
2120  |  ETV6  |  1.12  |  DISEASES
2130  |  EWSR1  |  3.77  |  DISEASES
2138  |  EYA1  |  1.466  |  DISEASES
474383  |  F8A2  |  1.416  |  DISEASES
474384  |  F8A3  |  1.598  |  DISEASES
2254  |  FGF9  |  1.174  |  DISEASES
387758  |  FIBIN  |  2.279  |  DISEASES
9158  |  FIBP  |  3.028  |  DISEASES
2296  |  FOXC1  |  1.323  |  DISEASES
2297  |  FOXD1  |  2.693  |  DISEASES
2308  |  FOXO1  |  1.007  |  DISEASES
2512  |  FTL  |  2.762  |  DISEASES
2526  |  FUT4  |  1.865  |  DISEASES
2623  |  GATA1  |  1.673  |  DISEASES
2626  |  GATA4  |  2.076  |  DISEASES
2668  |  GDNF  |  1.568  |  DISEASES
2674  |  GFRA1  |  1.134  |  DISEASES
2719  |  GPC3  |  3.45  |  DISEASES
2719  |  GPC3  |  3.213  |  DISEASES
2239  |  GPC4  |  3.817  |  DISEASES
2239  |  GPC4  |  1.017  |  DISEASES
7107  |  GPR137B  |  2.142  |  DISEASES
2863  |  GPR39  |  1.036  |  DISEASES
2971  |  GTF3A  |  1.477  |  DISEASES
283120  |  H19  |  1.335  |  DISEASES
3043  |  HBB  |  1.052  |  DISEASES
3065  |  HDAC1  |  1.27  |  DISEASES
333932  |  HIST2H3A  |  1.982  |  DISEASES
126961  |  HIST2H3C  |  2.689  |  DISEASES
3105  |  HLA-A  |  1.094  |  DISEASES
3161  |  HMMR  |  2.215  |  DISEASES
3167  |  HMX2  |  1.897  |  DISEASES
3283  |  HSD3B1  |  1.441  |  DISEASES
3347  |  HTN3  |  2.303  |  DISEASES
3481  |  IGF2  |  5.839  |  DISEASES
3481  |  IGF2  |  2.554  |  DISEASES
51214  |  IGF2-AS  |  2.401  |  DISEASES
10265  |  IRX5  |  1.229  |  DISEASES
8516  |  ITGA8  |  1.299  |  DISEASES
10625  |  IVNS1ABP  |  2.256  |  DISEASES
3767  |  KCNJ11  |  1.378  |  DISEASES
60598  |  KCNK15  |  1.954  |  DISEASES
10984  |  KCNQ1OT1  |  3.54  |  DISEASES
55243  |  KIRREL  |  1.187  |  DISEASES
83999  |  KREMEN1  |  1.354  |  DISEASES
3855  |  KRT7  |  2.708  |  DISEASES
3916  |  LAMP1  |  1.552  |  DISEASES
3939  |  LDHA  |  1.573  |  DISEASES
56956  |  LHX9  |  1.634  |  DISEASES
389421  |  LIN28B  |  1.172  |  DISEASES
4010  |  LMX1B  |  1.595  |  DISEASES
131578  |  LRRC15  |  1.062  |  DISEASES
338645  |  LUZP2  |  2.121  |  DISEASES
4101  |  MAGEA2  |  1.516  |  DISEASES
266740  |  MAGEA2B  |  1.518  |  DISEASES
4102  |  MAGEA3  |  1.727  |  DISEASES
4151  |  MB  |  1.842  |  DISEASES
4192  |  MDK  |  3.042  |  DISEASES
4222  |  MEOX1  |  1.535  |  DISEASES
57721  |  METTL14  |  1.907  |  DISEASES
92312  |  MEX3A  |  2.183  |  DISEASES
2315  |  MLANA  |  1.46  |  DISEASES
4311  |  MME  |  1.78  |  DISEASES
758  |  MPPED1  |  3.114  |  DISEASES
744  |  MPPED2  |  3.21  |  DISEASES
6150  |  MRPL23  |  1.896  |  DISEASES
10232  |  MSLN  |  1.402  |  DISEASES
9961  |  MVP  |  1.932  |  DISEASES
4602  |  MYB  |  1.681  |  DISEASES
4609  |  MYC  |  2.601  |  DISEASES
10408  |  MYCNOS  |  1.472  |  DISEASES
4629  |  MYH11  |  2.029  |  DISEASES
8736  |  MYOM1  |  1.557  |  DISEASES
4664  |  NAB1  |  1.928  |  DISEASES
4676  |  NAP1L4  |  3.156  |  DISEASES
89796  |  NAV1  |  1.009  |  DISEASES
4750  |  NEK1  |  1.274  |  DISEASES
10763  |  NES  |  1.37  |  DISEASES
4763  |  NF1  |  1.345  |  DISEASES
4803  |  NGF  |  1.178  |  DISEASES
7080  |  NKX2-1  |  2.077  |  DISEASES
4868  |  NPHS1  |  4.198  |  DISEASES
7827  |  NPHS2  |  3.422  |  DISEASES
190  |  NR0B1  |  2.848  |  DISEASES
2516  |  NR5A1  |  3.888  |  DISEASES
2494  |  NR5A2  |  1.77  |  DISEASES
4893  |  NRAS  |  1.503  |  DISEASES
4916  |  NTRK3  |  1.723  |  DISEASES
56903  |  PAPOLB  |  1.769  |  DISEASES
164091  |  PAQR7  |  1.16  |  DISEASES
84612  |  PARD6B  |  1.821  |  DISEASES
5074  |  PAWR  |  1.607  |  DISEASES
5076  |  PAX2  |  4.889  |  DISEASES
5077  |  PAX3  |  1.797  |  DISEASES
5080  |  PAX6  |  4.36  |  DISEASES
5081  |  PAX7  |  1.675  |  DISEASES
7849  |  PAX8  |  3.317  |  DISEASES
22976  |  PAXIP1  |  1.108  |  DISEASES
5087  |  PBX1  |  1.272  |  DISEASES
5154  |  PDGFA  |  2.825  |  DISEASES
10611  |  PDLIM5  |  1.168  |  DISEASES
10471  |  PFDN6  |  1.58  |  DISEASES
5241  |  PGR  |  1.288  |  DISEASES
10745  |  PHTF1  |  1.654  |  DISEASES
93183  |  PIGM  |  1.347  |  DISEASES
148811  |  PM20D1  |  1.946  |  DISEASES
10654  |  PMVK  |  1.005  |  DISEASES
5420  |  PODXL  |  3.5  |  DISEASES
5447  |  POR  |  1.347  |  DISEASES
11281  |  POU6F2  |  3.9  |  DISEASES
5532  |  PPP3CB  |  1.052  |  DISEASES
23532  |  PRAME  |  2.722  |  DISEASES
58531  |  PRM3  |  1.915  |  DISEASES
5727  |  PTCH1  |  1.153  |  DISEASES
5764  |  PTN  |  1.683  |  DISEASES
5788  |  PTPRC  |  1.454  |  DISEASES
23475  |  QPRT  |  1.185  |  DISEASES
11186  |  RASSF1  |  1.54  |  DISEASES
5931  |  RBBP7  |  3.021  |  DISEASES
5973  |  RENBP  |  2.672  |  DISEASES
6023  |  RMRP  |  3.149  |  DISEASES
6029  |  RN7SL1  |  5.056  |  DISEASES
6029  |  RN7SL1  |  1.388  |  DISEASES
862  |  RUNX1T1  |  1.542  |  DISEASES
6275  |  S100A4  |  1.153  |  DISEASES
9294  |  S1PR2  |  1.197  |  DISEASES
6297  |  SALL2  |  1.989  |  DISEASES
5003  |  SLC22A18AS  |  2.518  |  DISEASES
6533  |  SLC6A6  |  1.517  |  DISEASES
9748  |  SLK  |  1.494  |  DISEASES
23161  |  SNX13  |  2.072  |  DISEASES
6666  |  SOX12  |  1.71  |  DISEASES
6665  |  SOX15  |  1.419  |  DISEASES
6736  |  SRY  |  2.975  |  DISEASES
727837  |  SSX2B  |  1.615  |  DISEASES
54823  |  SWT1  |  3.349  |  DISEASES
11346  |  SYNPO  |  4.028  |  DISEASES
9096  |  TBX18  |  1.439  |  DISEASES
256536  |  TCERG1L  |  1.688  |  DISEASES
7016  |  TESK1  |  1.175  |  DISEASES
54790  |  TET2  |  1.92  |  DISEASES
9967  |  THRAP3  |  1.682  |  DISEASES
7091  |  TLE4  |  1.001  |  DISEASES
3604  |  TNFRSF9  |  1.385  |  DISEASES
10953  |  TOMM34  |  1.368  |  DISEASES
10346  |  TRIM22  |  2.148  |  DISEASES
7260  |  TSSC1  |  2.279  |  DISEASES
7422  |  VEGFA  |  2.282  |  DISEASES
7481  |  WNT11  |  1.38  |  DISEASES
7490  |  WT1  |  8.453  |  DISEASES
7490  |  WT1  |  3.564  |  DISEASES
51352  |  WT1-AS  |  4.701  |  DISEASES
9589  |  WTAP  |  4.929  |  DISEASES
25844  |  YIPF3  |  3.667  |  DISEASES
79670  |  ZCCHC6  |  5.253  |  DISEASES
23414  |  ZFPM2  |  1.47  |  DISEASES
339318  |  ZNF181  |  2.75  |  DISEASES
51222  |  ZNF219  |  2.516  |  DISEASES
7767  |  ZNF224  |  3.149  |  DISEASES
10782  |  ZNF274  |  2.362  |  DISEASES
55900  |  ZNF302  |  2.75  |  DISEASES
23567  |  ZNF346  |  1.754  |  DISEASES
6940  |  ZNF354A  |  1.702  |  DISEASES
57862  |  ZNF410  |  1.615  |  DISEASES
51710  |  ZNF44  |  1.579  |  DISEASES
115560  |  ZNF501  |  1.62  |  DISEASES
148266  |  ZNF569  |  1.592  |  DISEASES
148103  |  ZNF599  |  2.75  |  DISEASES
284390  |  ZNF763  |  1.62  |  DISEASES
57829  |  ZP4  |  1.237  |  DISEASES
Locus
Symbol | Locus(Total Locus:5)
DIS3L2  |  2q37.1
REST  |  4q12
WT1  |  11p13
H19  |  11p15.5
POU6F2  |  7p14.1
Disease ID 117
Disease nephroblastoma
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:12)
HP:0002716  |  Lymphadenopathy
HP:0100526  |  Neoplasm of the lung
HP:0002664  |  Neoplasm
HP:0002667  |  Nephroblastoma
HP:0000526  |  Aniridia
HP:0002896  |  Neoplasm of the liver
HP:0002027  |  Abdominal pain
HP:0000822  |  Hypertension
HP:0001824  |  Weight loss
HP:0001945  |  Fever
HP:0000790  |  Hematuria
HP:0002667  |  Wilms tumor
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:54)
HP:0002664  |  Neoplasia  |  13
HP:0000822  |  Hypertension  |  3
HP:0100242  |  Sarcoma  |  3
HP:0002667  |  Wilms tumor  |  2
HP:0030731  |  Carcinoma  |  2
HP:0000085  |  Horseshoe kidney  |  2
HP:0100528  |  Pleuropulmonary blastoma  |  2
HP:0005584  |  Renal cell carcinoma  |  2
HP:0012254  |  Ewing's sarcoma  |  2
HP:0000123  |  Nephritis  |  2
HP:0004808  |  Acute myelogenous leukemia  |  2
HP:0008643  |  Nephroblastomatosis  |  2
HP:0001909  |  Leukemia  |  2
HP:0000107  |  Renal cyst  |  2
HP:0000100  |  Nephrosis  |  2
HP:0100880  |  Nephrogenic rest  |  2
HP:0011796  |  Perilobar nephrogenic rests  |  1
HP:0001251  |  Ataxia  |  1
HP:0001399  |  Liver failure  |  1
HP:0012588  |  Steroid-resistant nephrotic syndrome  |  1
HP:0006743  |  Embryonal rhabdomyosarcoma  |  1
HP:0003006  |  Neuroblastoma  |  1
HP:0004448  |  Fulminant hepatic failure  |  1
HP:0001009  |  Telangiectases  |  1
HP:0009733  |  Glioma  |  1
HP:0011675  |  Arrhythmias  |  1
HP:0001959  |  Polydipsia  |  1
HP:0008071  |  Maternal hypertension  |  1
HP:0001409  |  Portal hypertension  |  1
HP:0012622  |  Chronic kidney disease  |  1
HP:0012189  |  Hodgkin disease  |  1
HP:0006254  |  Increased serum alpha-fetoprotein  |  1
HP:0002861  |  Melanoma  |  1
HP:0002176  |  Spinal cord compression  |  1
HP:0000083  |  Renal insufficiency  |  1
HP:0001903  |  Anemia  |  1
HP:0030767  |  Epignathus  |  1
HP:0007281  |  Developmental stagnation  |  1
HP:0003774  |  End-stage renal failure  |  1
HP:0001943  |  Hypoglycemia  |  1
HP:0006765  |  Chondrosarcoma  |  1
HP:0003002  |  Breast carcinoma  |  1
HP:0000110  |  Renal dysplasia  |  1
HP:0001578  |  Hypercortisolism  |  1
HP:0012539  |  Non-Hodgkin lymphoma  |  1
HP:0001520  |  Birthweight > 90th percentile  |  1
HP:0000028  |  Cryptorchidism  |  1
HP:0002860  |  Squamous cell carcinoma  |  1
HP:0002859  |  Rhabdomyosarcoma  |  1
HP:0000103  |  Polyuria  |  1
HP:0010550  |  Paraplegia  |  1
HP:0006772  |  Angiomyolipoma  |  1
HP:0005214  |  Bowel obstruction  |  1
HP:0006744  |  Adrenal carcinoma  |  1
Disease ID 117
Disease nephroblastoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:7)
C0494165  |  liver metastases
C0494165  |  hepatic metastases
C0406657  |  self-healing juvenile cutaneous mucinosis
C0302148  |  thrombus
C0153690  |  bone metastases
C0020437  |  hypercalcemia
C0002793  |  anaplasia
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:8)
C0002793  |  anaplasia  |  4
C0020538  |  hypertension  |  3
C0085602  |  polydipsia  |  1
C0022661  |  end stage renal disease  |  1
C0030486  |  paraplegia  |  1
C0950121  |  drash syndrome  |  1
C0035078  |  renal failure  |  1
C0040053  |  thrombus  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:14)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1051266255364374524MTHFRumls:C0027708BeFreeThe aim of this study was to investigate the association between MTHFR rs1801133 (C677T) and RFC-1 rs1051266 (G80A) genotypes with the risk of developing nephroblastoma and neuroblastoma.0.0029099162015SLC19A12145537880TC
rs16754211893907490WT1umls:C0027708BeFreeTo analyze the prevalence and clinical implications of Wilms' tumor 1 (WT1) single nucleotide polymorphism (SNP) rs16754 in the context of other prognostic markers in pediatric acute myeloid leukemia (AML).0.4440982872011WT11132396399TC
rs16754216593577490WT1umls:C0027708BeFreeClinical outcome and gene- and microRNA-expression profiling according to the Wilms tumor 1 (WT1) single nucleotide polymorphism rs16754 in adult de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study.0.4440982872011WT11132396399TC
rs1801133255364374524MTHFRumls:C0027708BeFreeThe aim of this study was to investigate the association between MTHFR rs1801133 (C677T) and RFC-1 rs1051266 (G80A) genotypes with the risk of developing nephroblastoma and neuroblastoma.0.0029099162015MTHFR111796321GA
rs2234584151507757490WT1umls:C0027708UNIPROTTwenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.0.4440982872004WT11132428521GT,A
rs2283873225443646948TCN2umls:C0027708GWASCATA genome-wide association study identifies susceptibility loci for Wilms tumor.0.122012TCN22230617309GA
rs249547822544364255738PCSK9umls:C0027708GWASCATA genome-wide association study identifies susceptibility loci for Wilms tumor.0.122012PCSK9155047322GA
rs2857461217931872130EWSR1umls:C0027708BeFreeOne SNP in EWSR1 (rs2857461) showed a low level of statistical association with the diagnosis of Ewing sarcoma compared to Wilms tumor.0.0024429772012EWSR12229272015CT
rs368087026255364374524MTHFRumls:C0027708BeFreeThe aim of this study was to investigate the association between MTHFR rs1801133 (C677T) and RFC-1 rs1051266 (G80A) genotypes with the risk of developing nephroblastoma and neuroblastoma.0.0029099162015SLC19A12145530890GA
rs3755132225443641653DDX1umls:C0027708GWASCATA genome-wide association study identifies susceptibility loci for Wilms tumor.0.122012DDX1215589696TG
rs386514057255364374524MTHFRumls:C0027708BeFreeThe aim of this study was to investigate the association between MTHFR rs1801133 (C677T) and RFC-1 rs1051266 (G80A) genotypes with the risk of developing nephroblastoma and neuroblastoma.0.0029099162015NANANANANA
rs5955543225443644810NHSumls:C0027708GWASCATA genome-wide association study identifies susceptibility loci for Wilms tumor.0.122012NHSX17680277AG
rs662249725705444PON1umls:C0027708BeFreeThe presence of at least one variant PON1 rs662 R allele increased the risk of developing Wilms´ Tumor although without statistical power.0.0002714422014PON1795308134TC
rs790356225443641740DLG2umls:C0027708GWASCATA genome-wide association study identifies susceptibility loci for Wilms tumor.0.122012DLG2;LOC1053694181183909744AG
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:51)
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
155512995rs2495478GArs2495478225443641.00E-07NA1.4[1.15-1.72] 757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomars2495478-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tCPCSK9
215729820rs3755132TGrs3755132225443641.00E-14NA1.45[1.29-1.64]757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomars3755132-GResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tGNA
215737343rs2302930AGrs2302930225443643.10E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tADDX1
215737480rs2302931CArs2302931225443643.10E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tCDDX1
215750443rs4668942TCrs4668942225443643.10E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tTDDX1
215750640rs7594193AGrs7594193225443643.10E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tGDDX1
215758293rs3770466TCrs3770466225443643.10E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tCDDX1
215762935rs3770467GArs3770467225443643.14E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tGDDX1
215763788rs41264163CTrs41264163225443643.14E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tTDDX1
215764078rs4668945GCrs4668945225443643.34E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tGDDX1
215765425rs6734471CTrs6734471225443643.34E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tCDDX1
215767761rs6743036GArs6743036225443643.34E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tNADDX1
215768256rs6743630GArs6743630225443643.34E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tADDX1
215770507rs3770470GTrs3770470225443643.34E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tTDDX1
215770775rs3770471CTrs3770471225443643.34E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tCDDX1
215771586rs4668948ACrs4668948225443642.55E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tANA
215771615rs4668949CTrs4668949225443641.51E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tTNA
215772546rs976015CGrs976015225443643.14E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tCNA
215772958rs16862822GArs16862822225443643.34E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tGNA
215774115rs976233CTrs976233225443643.34E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tCNA
215775210rs16862823TCrs16862823225443643.14E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tTNA
215782471rs807624GTrs807624225443641.00E-14NA1.33[1.22-1.45]757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomars807624-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tANA
215786243rs6724800AGrs6724800225443641.86E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tANA
215788191rs16862838CTrs16862838225443641.71E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tCNA
215789441rs4668458GArs4668458225443642.22E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tGNA
215791937rs6431721CTrs6431721225443642.66E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tCNA
591845809rs6887553AGrs6887553225443645.35E-10NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tGNA
591859029rs10060683TCrs10060683225443642.41E-10NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tCNA
591893792rs1027643CTrs1027643225443645.00E-10NA1.43[1.18-1.73]757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomars1027643-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tTNA
591904447rs61344503GTrs61344503225443642.40E-10NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tTNA
591907006rs2221269AGrs2221269225443641.45E-10NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tANA
1183620787rs790356AGrs790356225443644.00E-15NA1.28[1.17-1.39]757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomars790356-GResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tADLG2
2231009839rs11913239CTrs11913239225443646.49E-09NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tCTCN2
2231010997rs2267162CTrs2267162225443641.12E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tCTCN2
2231011280rs7290898AC,G,Trs7290898225443642.97E-09NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tCTCN2
2231011923rs16988855TCrs16988855225443645.40E-09NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tCTCN2
2231013296rs2283873GArs2283873225443645.00E-12NA2.05[1.57-2.69]757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomars2283873-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tCTCN2
2231014377rs2009857CTrs2009857225443645.40E-09NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tGTCN2
2231015562rs7288627GArs7288627225443645.40E-09NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tGTCN2
2231015573rs7288385CArs7288385225443645.40E-09NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tCTCN2
2231018072rs8141515TCrs8141515225443641.17E-08NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tTTCN2
2231018078rs2267166GArs2267166225443641.17E-08NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tGTCN2
2231022733rs2072195ATrs2072195225443641.13E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tATCN2
X17669042rs4825280TArs4825280225443642.54E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tTNHS
X17677803rs978158ATrs978158225443642.54E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tANHS
X17692151rs6633014CTrs6633014225443642.54E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tTNHS
X17693746rs5955717CTrs5955717225443642.54E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tTNHS
X17695190rs5955731CArs5955731225443642.54E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tCNHS
X17698397rs5955543AGrs5955543225443641.00E-09NA2.64[1.74-4.01] 757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomars5955543-GResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tANHS
X17699505rs12392874CArs12392874225443642.54E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tCNHS
X17699834rs4825243CArs4825243225443642.54E-06NANANA757 European ancestry cases; 1,879 European ancestry controlsEuropean(2636)ALL(2636)EUR(2636)ALL(2636)Wilms tumorHPOID:0002667Nephroblastoma (Wilms tumor)DOID:2154nephroblastomaD009396Wilms TumornephroblastomaNephroblastomaNAResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tANHS
Mapped by lexical matching(Total Items:2)
HP ID HP Name MP ID MP Name Annotation
HP:0100526Neoplasm of the lungMP:0004500increased incidence of tumors by ionizing radiation inductionhigher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays
HP:0001824Weight lossMP:0005114premature hair lossrelease of fur at an earlier than expected time
Mapped by homologous gene(Total Items:10)
HP ID HP Name MP ID MP Name Annotation
HP:0000790HematuriaMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001945FeverMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001824Weight lossMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0002664NeoplasmMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000526AniridiaMP:0014164abnormal ciliary process morphology any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter
HP:0002027Abdominal painMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0002716LymphadenopathyMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0100526Neoplasm of the lungMP:0014179abnormal blood-retinal barrier functionanomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci
HP:0000822HypertensionMP:0020216decreased circulating complement protein levelless than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0002667Nephroblastoma (Wilms tumor)MP:0013886increased CD4-negative, CD25-positive NK T cell numberincrease in the number of CD4-negative NK T cells expressing the activation marker CD25
Disease ID 117
Disease nephroblastoma
Case(Waiting for update.)