nephroblastoma |
Disease ID | 117 |
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Disease | nephroblastoma |
Manually Symptom | UMLS | Name(Total Manually Symptoms:7) |
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) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:14) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs1051266 | 25536437 | 4524 | MTHFR | umls:C0027708 | BeFree | The 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. | 0.002909916 | 2015 | SLC19A1 | 21 | 45537880 | T | C |
rs16754 | 21189390 | 7490 | WT1 | umls:C0027708 | BeFree | To 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). | 0.444098287 | 2011 | WT1 | 11 | 32396399 | T | C |
rs16754 | 21659357 | 7490 | WT1 | umls:C0027708 | BeFree | Clinical 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. | 0.444098287 | 2011 | WT1 | 11 | 32396399 | T | C |
rs1801133 | 25536437 | 4524 | MTHFR | umls:C0027708 | BeFree | The 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. | 0.002909916 | 2015 | MTHFR | 1 | 11796321 | G | A |
rs2234584 | 15150775 | 7490 | WT1 | umls:C0027708 | UNIPROT | Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development. | 0.444098287 | 2004 | WT1 | 11 | 32428521 | G | T,A |
rs2283873 | 22544364 | 6948 | TCN2 | umls:C0027708 | GWASCAT | A genome-wide association study identifies susceptibility loci for Wilms tumor. | 0.12 | 2012 | TCN2 | 22 | 30617309 | G | A |
rs2495478 | 22544364 | 255738 | PCSK9 | umls:C0027708 | GWASCAT | A genome-wide association study identifies susceptibility loci for Wilms tumor. | 0.12 | 2012 | PCSK9 | 1 | 55047322 | G | A |
rs2857461 | 21793187 | 2130 | EWSR1 | umls:C0027708 | BeFree | One SNP in EWSR1 (rs2857461) showed a low level of statistical association with the diagnosis of Ewing sarcoma compared to Wilms tumor. | 0.002442977 | 2012 | EWSR1 | 22 | 29272015 | C | T |
rs368087026 | 25536437 | 4524 | MTHFR | umls:C0027708 | BeFree | The 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. | 0.002909916 | 2015 | SLC19A1 | 21 | 45530890 | G | A |
rs3755132 | 22544364 | 1653 | DDX1 | umls:C0027708 | GWASCAT | A genome-wide association study identifies susceptibility loci for Wilms tumor. | 0.12 | 2012 | DDX1 | 2 | 15589696 | T | G |
rs386514057 | 25536437 | 4524 | MTHFR | umls:C0027708 | BeFree | The 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. | 0.002909916 | 2015 | NA | NA | NA | NA | NA |
rs5955543 | 22544364 | 4810 | NHS | umls:C0027708 | GWASCAT | A genome-wide association study identifies susceptibility loci for Wilms tumor. | 0.12 | 2012 | NHS | X | 17680277 | A | G |
rs662 | 24972570 | 5444 | PON1 | umls:C0027708 | BeFree | The presence of at least one variant PON1 rs662 R allele increased the risk of developing Wilms´ Tumor although without statistical power. | 0.000271442 | 2014 | PON1 | 7 | 95308134 | T | C |
rs790356 | 22544364 | 1740 | DLG2 | umls:C0027708 | GWASCAT | A genome-wide association study identifies susceptibility loci for Wilms tumor. | 0.12 | 2012 | DLG2;LOC105369418 | 11 | 83909744 | A | G |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:51) | |||||||||||||||||||||||||||||
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CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
1 | 55512995 | rs2495478 | G | A | rs2495478 | 22544364 | 1.00E-07 | NA | 1.4 | [1.15-1.72] | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | rs2495478-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | PCSK9 |
2 | 15729820 | rs3755132 | T | G | rs3755132 | 22544364 | 1.00E-14 | NA | 1.45 | [1.29-1.64] | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | rs3755132-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G | NA |
2 | 15737343 | rs2302930 | A | G | rs2302930 | 22544364 | 3.10E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A | DDX1 |
2 | 15737480 | rs2302931 | C | A | rs2302931 | 22544364 | 3.10E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | DDX1 |
2 | 15750443 | rs4668942 | T | C | rs4668942 | 22544364 | 3.10E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T | DDX1 |
2 | 15750640 | rs7594193 | A | G | rs7594193 | 22544364 | 3.10E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G | DDX1 |
2 | 15758293 | rs3770466 | T | C | rs3770466 | 22544364 | 3.10E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | DDX1 |
2 | 15762935 | rs3770467 | G | A | rs3770467 | 22544364 | 3.14E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G | DDX1 |
2 | 15763788 | rs41264163 | C | T | rs41264163 | 22544364 | 3.14E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T | DDX1 |
2 | 15764078 | rs4668945 | G | C | rs4668945 | 22544364 | 3.34E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G | DDX1 |
2 | 15765425 | rs6734471 | C | T | rs6734471 | 22544364 | 3.34E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | DDX1 |
2 | 15767761 | rs6743036 | G | A | rs6743036 | 22544364 | 3.34E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | NA | DDX1 |
2 | 15768256 | rs6743630 | G | A | rs6743630 | 22544364 | 3.34E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A | DDX1 |
2 | 15770507 | rs3770470 | G | T | rs3770470 | 22544364 | 3.34E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T | DDX1 |
2 | 15770775 | rs3770471 | C | T | rs3770471 | 22544364 | 3.34E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | DDX1 |
2 | 15771586 | rs4668948 | A | C | rs4668948 | 22544364 | 2.55E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A | NA |
2 | 15771615 | rs4668949 | C | T | rs4668949 | 22544364 | 1.51E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T | NA |
2 | 15772546 | rs976015 | C | G | rs976015 | 22544364 | 3.14E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | NA |
2 | 15772958 | rs16862822 | G | A | rs16862822 | 22544364 | 3.34E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G | NA |
2 | 15774115 | rs976233 | C | T | rs976233 | 22544364 | 3.34E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | NA |
2 | 15775210 | rs16862823 | T | C | rs16862823 | 22544364 | 3.14E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T | NA |
2 | 15782471 | rs807624 | G | T | rs807624 | 22544364 | 1.00E-14 | NA | 1.33 | [1.22-1.45] | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | rs807624-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A | NA |
2 | 15786243 | rs6724800 | A | G | rs6724800 | 22544364 | 1.86E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A | NA |
2 | 15788191 | rs16862838 | C | T | rs16862838 | 22544364 | 1.71E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | NA |
2 | 15789441 | rs4668458 | G | A | rs4668458 | 22544364 | 2.22E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G | NA |
2 | 15791937 | rs6431721 | C | T | rs6431721 | 22544364 | 2.66E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | NA |
5 | 91845809 | rs6887553 | A | G | rs6887553 | 22544364 | 5.35E-10 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G | NA |
5 | 91859029 | rs10060683 | T | C | rs10060683 | 22544364 | 2.41E-10 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | NA |
5 | 91893792 | rs1027643 | C | T | rs1027643 | 22544364 | 5.00E-10 | NA | 1.43 | [1.18-1.73] | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | rs1027643-T | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T | NA |
5 | 91904447 | rs61344503 | G | T | rs61344503 | 22544364 | 2.40E-10 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T | NA |
5 | 91907006 | rs2221269 | A | G | rs2221269 | 22544364 | 1.45E-10 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A | NA |
11 | 83620787 | rs790356 | A | G | rs790356 | 22544364 | 4.00E-15 | NA | 1.28 | [1.17-1.39] | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | rs790356-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A | DLG2 |
22 | 31009839 | rs11913239 | C | T | rs11913239 | 22544364 | 6.49E-09 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | TCN2 |
22 | 31010997 | rs2267162 | C | T | rs2267162 | 22544364 | 1.12E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | TCN2 |
22 | 31011280 | rs7290898 | A | C,G,T | rs7290898 | 22544364 | 2.97E-09 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | TCN2 |
22 | 31011923 | rs16988855 | T | C | rs16988855 | 22544364 | 5.40E-09 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | TCN2 |
22 | 31013296 | rs2283873 | G | A | rs2283873 | 22544364 | 5.00E-12 | NA | 2.05 | [1.57-2.69] | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | rs2283873-A | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | TCN2 |
22 | 31014377 | rs2009857 | C | T | rs2009857 | 22544364 | 5.40E-09 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G | TCN2 |
22 | 31015562 | rs7288627 | G | A | rs7288627 | 22544364 | 5.40E-09 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G | TCN2 |
22 | 31015573 | rs7288385 | C | A | rs7288385 | 22544364 | 5.40E-09 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | TCN2 |
22 | 31018072 | rs8141515 | T | C | rs8141515 | 22544364 | 1.17E-08 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T | TCN2 |
22 | 31018078 | rs2267166 | G | A | rs2267166 | 22544364 | 1.17E-08 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | G | TCN2 |
22 | 31022733 | rs2072195 | A | T | rs2072195 | 22544364 | 1.13E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A | TCN2 |
X | 17669042 | rs4825280 | T | A | rs4825280 | 22544364 | 2.54E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T | NHS |
X | 17677803 | rs978158 | A | T | rs978158 | 22544364 | 2.54E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A | NHS |
X | 17692151 | rs6633014 | C | T | rs6633014 | 22544364 | 2.54E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T | NHS |
X | 17693746 | rs5955717 | C | T | rs5955717 | 22544364 | 2.54E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | T | NHS |
X | 17695190 | rs5955731 | C | A | rs5955731 | 22544364 | 2.54E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | NHS |
X | 17698397 | rs5955543 | A | G | rs5955543 | 22544364 | 1.00E-09 | NA | 2.64 | [1.74-4.01] | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | rs5955543-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A | NHS |
X | 17699505 | rs12392874 | C | A | rs12392874 | 22544364 | 2.54E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | C | NHS |
X | 17699834 | rs4825243 | C | A | rs4825243 | 22544364 | 2.54E-06 | NA | NA | NA | 757 European ancestry cases; 1,879 European ancestry controls | European(2636) | ALL(2636) | EUR(2636) | ALL(2636) | Wilms tumor | HPOID:0002667 | Nephroblastoma (Wilms tumor) | DOID:2154 | nephroblastoma | D009396 | Wilms Tumor | nephroblastoma | Nephroblastoma | NA | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | A | NHS |
Mapped by lexical matching(Total Items:2) | ||||
---|---|---|---|---|
HP ID | HP Name | MP ID | MP Name | Annotation |
HP:0100526 | Neoplasm of the lung | MP:0004500 | increased incidence of tumors by ionizing radiation induction | higher 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:0001824 | Weight loss | MP:0005114 | premature hair loss | release 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:0000790 | Hematuria | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
HP:0000526 | Aniridia | MP:0014164 | abnormal 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:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
HP:0002716 | Lymphadenopathy | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
HP:0100526 | Neoplasm of the lung | MP:0014179 | abnormal blood-retinal barrier function | anomaly 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:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less 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:0002667 | Nephroblastoma (Wilms tumor) | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
Disease ID | 117 |
---|---|
Disease | nephroblastoma |
Case | (Waiting for update.) |