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	osteosarcoma

Disease ID	179
Disease	osteosarcoma
Definition	A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed)
Synonym	[m]osteosarcoma nos bone cancer, osteogenic sarcoma bone sarcoma bone sarcomas osrc osteochondrosarcoma osteogenic sarcoma osteogenic sarcoma, nos osteogenic sarcomas osteoid sarcoma osteosarcoma (disorder) osteosarcoma - disorder osteosarcoma - disorder (disorder) osteosarcoma [disease/finding] osteosarcoma tumor osteosarcoma tumors osteosarcoma, malignant osteosarcoma, no icd-o subtype osteosarcoma, no icd-o subtype (morphologic abnormality) osteosarcoma, no international classification of diseases for oncology subtype osteosarcoma, no international classification of diseases for oncology subtype (morphologic abnormality) osteosarcoma, nos osteosarcomas sarcoma osteogenic sarcoma, osteogenic sarcomas, osteogenic tumor, osteosarcoma tumors, osteosarcoma
Orphanet	ORPHANET:223727 ORPHANET:668
OMIM	OMIM:259500
DOID	DOID:3347
UMLS	C0029463
MeSH	D012516
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:47) C0153676 \| pulmonary metastasis \| 10 C0153676 \| pulmonary metastases \| 8 C1261473 \| sarcoma \| 6 C0153676 \| lung metastases \| 6 C0153676 \| lung metastasis \| 5 C0553580 \| ewing sarcoma \| 3 C0007134 \| renal cell carcinoma \| 3 C1266042 \| chromophobe renal cell carcinoma \| 3 C0007140 \| carcinosarcoma \| 3 C1261473 \| sarcomas \| 2 C0008479 \| chondrosarcoma \| 2 C0032339 \| rothmund-thomson syndrome \| 2 C0007137 \| squamous carcinoma \| 2 C0026764 \| myeloma \| 2 C0035335 \| retinoblastoma \| 2 C0040053 \| thrombus \| 2 C0206623 \| adenosquamous carcinoma \| 2 C0029423 \| osteochondroma \| 2 C0079419 \| li-fraumeni syndrome \| 2 C0220650 \| brain metastasis \| 1 C0001418 \| adenocarcinoma \| 1 C0026764 \| multiple myeloma \| 1 C0023267 \| leiomyoma \| 1 C0011649 \| dermoid \| 1 C0020437 \| hypercalcemia \| 1 C0678222 \| breast carcinoma \| 1 C1704327 \| bone sarcomas \| 1 C0281267 \| bilateral breast carcinoma \| 1 C0029401 \| paget disease \| 1 C0016045 \| fibroma \| 1 C1704327 \| bone sarcoma \| 1 C0023827 \| liposarcoma \| 1 C0007140 \| carcinosarcomas \| 1 C0004779 \| gorlin's syndrome \| 1 C0017525 \| giant cell tumor \| 1 C0023348 \| lepromatous leprosy \| 1 C0011649 \| dermoid cyst \| 1 C0023418 \| leukemia \| 1 C0002871 \| anemia \| 1 C0007138 \| urothelial carcinoma \| 1 C0027122 \| myositis ossificans \| 1 C0740394 \| hyperuricemia \| 1 C0029401 \| paget's disease \| 1 C0029417 \| osteoblastoma \| 1 C0027121 \| myositis \| 1 C1334699 \| mesenchymal neoplasm \| 1 C0002895 \| sickle cell anemia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:39) 1965 \| EIF2S1 \| CTD_human 11200 \| CHEK2 \| CLINVAR;CTD_human;ORPHANET;UNIPROT 7001 \| PRDX2 \| CTD_human 2101 \| ESRRA \| CTD_human 5925 \| RB1 \| CTD_human;UNIPROT 407050 \| MIR93 \| CTD_human 7422 \| VEGFA \| CTD_human 2348 \| FOLR1 \| CTD_human 406920 \| MIR130B \| CTD_human 85417 \| CCNB3 \| CTD_human 4609 \| MYC \| CTD_human 1956 \| EGFR \| CTD_human 7157 \| TP53 \| CLINVAR;CTD_human 4233 \| MET \| CTD_human 23476 \| BRD4 \| CTD_human 3725 \| JUN \| CTD_human 860 \| RUNX2 \| CTD_human 5981 \| RFC1 \| CTD_human 2950 \| GSTP1 \| CTD_human 54880 \| BCOR \| CTD_human 8792 \| TNFRSF11A \| CTD_human 7262 \| PHLDA2 \| CTD_human 4015 \| LOX \| CTD_human 8148 \| TAF15 \| CTD_human 2146 \| EZH2 \| CTD_human 1719 \| DHFR \| CTD_human 3756 \| KCNH1 \| CTD_human 1576 \| CYP3A4 \| CTD_human 442894 \| MIR302B \| CTD_human 11174 \| ADAMTS6 \| GWASCAT 8856 \| NR1I2 \| CTD_human 10210 \| TOPORS \| CTD_human 170691 \| ADAMTS17 \| GWASCAT 406900 \| MIR106B \| CTD_human 5996 \| RGS1 \| CTD_human 4486 \| MST1R \| CTD_human 648 \| BMI1 \| CTD_human 2914 \| GRM4 \| CTD_human;GWASCAT 9183 \| ZW10 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:43) 1956 \| EGFR \| CIPHER;CTD_human 3586 \| IL10 \| CIPHER 3569 \| IL6 \| CIPHER 4193 \| MDM2 \| CIPHER 4353 \| MPO \| CIPHER 5175 \| PECAM1 \| CIPHER 5925 \| RB1 \| CIPHER;CTD_human 7124 \| TNF \| CIPHER 7157 \| TP53 \| CIPHER;CTD_human 11200 \| CHEK2 \| CTD_human 2101 \| ESRRA \| CTD_human 407050 \| MIR93 \| CTD_human 406920 \| MIR130B \| CTD_human 85417 \| CCNB3 \| CTD_human 4609 \| MYC \| CTD_human 5981 \| RFC1 \| CTD_human 8792 \| TNFRSF11A \| CTD_human 7262 \| PHLDA2 \| CTD_human 3725 \| JUN \| CTD_human 54880 \| BCOR \| CTD_human 2348 \| FOLR1 \| CTD_human 1576 \| CYP3A4 \| CTD_human 860 \| RUNX2 \| CTD_human 3756 \| KCNH1 \| CTD_human 442894 \| MIR302B \| CTD_human 4015 \| LOX \| CTD_human 2950 \| GSTP1 \| CTD_human 1719 \| DHFR \| CTD_human 4233 \| MET \| CTD_human 10210 \| TOPORS \| CTD_human 406900 \| MIR106B \| CTD_human 5996 \| RGS1 \| CTD_human 7001 \| PRDX2 \| CTD_human 4486 \| MST1R \| CTD_human 648 \| BMI1 \| CTD_human 8148 \| TAF15 \| CTD_human 2146 \| EZH2 \| CTD_human 2914 \| GRM4 \| CTD_human 1965 \| EIF2S1 \| CTD_human 23476 \| BRD4 \| CTD_human 8856 \| NR1I2 \| CTD_human 7422 \| VEGFA \| CTD_human 9183 \| ZW10 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:188) 86 \| ACTL6A \| 1.833 \| DISEASES 11199 \| ANXA10 \| 1.362 \| DISEASES 302 \| ANXA2 \| 1.218 \| DISEASES 317 \| APAF1 \| 1.427 \| DISEASES 9912 \| ARHGAP44 \| 2.01 \| DISEASES 9181 \| ARHGEF2 \| 1.319 \| DISEASES 468 \| ATF4 \| 1.212 \| DISEASES 4287 \| ATXN3 \| 1.474 \| DISEASES 632 \| BGLAP \| 3.368 \| DISEASES 650 \| BMP2 \| 3.014 \| DISEASES 29117 \| BRD7 \| 2.205 \| DISEASES 27101 \| CACYBP \| 1.267 \| DISEASES 800 \| CALD1 \| 1.035 \| DISEASES 4076 \| CAPRIN1 \| 1.672 \| DISEASES 841 \| CASP8 \| 2.267 \| DISEASES 842 \| CASP9 \| 2.557 \| DISEASES 6358 \| CCL14 \| 1.065 \| DISEASES 896 \| CCND3 \| 1.251 \| DISEASES 977 \| CD151 \| 1.367 \| DISEASES 9332 \| CD163 \| 1.07 \| DISEASES 960 \| CD44 \| 1.467 \| DISEASES 4267 \| CD99 \| 2.246 \| DISEASES 996 \| CDC27 \| 1.219 \| DISEASES 988 \| CDC5L \| 2.832 \| DISEASES 1002 \| CDH4 \| 2.291 \| DISEASES 983 \| CDK1 \| 1.565 \| DISEASES 23097 \| CDK19 \| 1.61 \| DISEASES 1029 \| CDKN2A \| 1.406 \| DISEASES 6900 \| CNTN2 \| 1.239 \| DISEASES 1290 \| COL5A2 \| 1.926 \| DISEASES 1314 \| COPA \| 1.107 \| DISEASES 90993 \| CREB3L1 \| 1.409 \| DISEASES 1400 \| CRMP1 \| 1.082 \| DISEASES 9946 \| CRYZL1 \| 1.322 \| DISEASES 1490 \| CTGF \| 1.741 \| DISEASES 9811 \| CTIF \| 2.662 \| DISEASES 1499 \| CTNNB1 \| 3.224 \| DISEASES 6387 \| CXCL12 \| 2.162 \| DISEASES 9547 \| CXCL14 \| 1.275 \| DISEASES 7852 \| CXCR4 \| 2.173 \| DISEASES 285440 \| CYP4V2 \| 3.709 \| DISEASES 3491 \| CYR61 \| 2.884 \| DISEASES 1719 \| DHFR \| 1.467 \| DISEASES 1740 \| DLG2 \| 2.591 \| DISEASES 1769 \| DNAH8 \| 2.322 \| DISEASES 1849 \| DUSP7 \| 1.826 \| DISEASES 100288687 \| DUX4 \| 1.556 \| DISEASES 653545 \| DUX4L5 \| 1.556 \| DISEASES 1870 \| E2F2 \| 1.917 \| DISEASES 64641 \| EBF2 \| 1.392 \| DISEASES 1982 \| EIF4G2 \| 1.1 \| DISEASES 11117 \| EMILIN1 \| 2.02 \| DISEASES 2021 \| ENDOG \| 1.767 \| DISEASES 1969 \| EPHA2 \| 1.227 \| DISEASES 2060 \| EPS15 \| 1.054 \| DISEASES 2068 \| ERCC2 \| 1.778 \| DISEASES 2073 \| ERCC5 \| 1.427 \| DISEASES 54206 \| ERRFI1 \| 1.35 \| DISEASES 283673 \| EWSAT1 \| 2.696 \| DISEASES 2130 \| EWSR1 \| 2.651 \| DISEASES 7430 \| EZR \| 3.672 \| DISEASES 404636 \| FAM45A \| 3.428 \| DISEASES 355 \| FAS \| 1.017 \| DISEASES 356 \| FASLG \| 1.583 \| DISEASES 2197 \| FAU \| 1.253 \| DISEASES 2258 \| FGF13 \| 1.037 \| DISEASES 2260 \| FGFR1 \| 1.423 \| DISEASES 2313 \| FLI1 \| 1.014 \| DISEASES 752 \| FMNL1 \| 1.429 \| DISEASES 2778 \| GNAS \| 2.106 \| DISEASES 2914 \| GRM4 \| 2.227 \| DISEASES 2958 \| GTF2A2 \| 2.523 \| DISEASES 3039 \| HBA1 \| 2.199 \| DISEASES 9931 \| HELZ \| 1.565 \| DISEASES 23462 \| HEY1 \| 1.307 \| DISEASES 8969 \| HIST1H2AG \| 2.697 \| DISEASES 85235 \| HIST1H2AH \| 1.808 \| DISEASES 8329 \| HIST1H2AI \| 2.697 \| DISEASES 8330 \| HIST1H2AK \| 2.567 \| DISEASES 8332 \| HIST1H2AL \| 2.697 \| DISEASES 8336 \| HIST1H2AM \| 1.831 \| DISEASES 8350 \| HIST1H3A \| 1.348 \| DISEASES 8352 \| HIST1H3C \| 1.134 \| DISEASES 8351 \| HIST1H3D \| 1.348 \| DISEASES 8353 \| HIST1H3E \| 1.14 \| DISEASES 8968 \| HIST1H3F \| 1.348 \| DISEASES 8355 \| HIST1H3G \| 1.348 \| DISEASES 8357 \| HIST1H3H \| 1.348 \| DISEASES 8354 \| HIST1H3I \| 1.348 \| DISEASES 8356 \| HIST1H3J \| 1.138 \| DISEASES 100124700 \| HOTAIR \| 1.123 \| DISEASES 3297 \| HSF1 \| 1.091 \| DISEASES 3320 \| HSP90AA1 \| 1.582 \| DISEASES 3304 \| HSPA1B \| 1.063 \| DISEASES 3481 \| IGF2 \| 1.523 \| DISEASES 3482 \| IGF2R \| 1.013 \| DISEASES 3570 \| IL6R \| 1.434 \| DISEASES 3725 \| JUN \| 2.46 \| DISEASES 8570 \| KHSRP \| 1.137 \| DISEASES 55243 \| KIRREL \| 1.472 \| DISEASES 9314 \| KLF4 \| 1.123 \| DISEASES 3840 \| KPNA4 \| 1.502 \| DISEASES 51474 \| LIMA1 \| 1.571 \| DISEASES 3985 \| LIMK2 \| 1.154 \| DISEASES 389421 \| LIN28B \| 1.458 \| DISEASES 100506724 \| LINC00901 \| 3.027 \| DISEASES 100505633 \| LINC01133 \| 2.358 \| DISEASES 125144 \| LRRC75A-AS1 \| 3.666 \| DISEASES 4045 \| LSAMP \| 1.579 \| DISEASES 7975 \| MAFK \| 1.256 \| DISEASES 5609 \| MAP2K7 \| 2.37 \| DISEASES 4215 \| MAP3K3 \| 2.129 \| DISEASES 4217 \| MAP3K5 \| 1.829 \| DISEASES 5599 \| MAPK8 \| 2.29 \| DISEASES 4170 \| MCL1 \| 1.783 \| DISEASES 266727 \| MDGA1 \| 2.204 \| DISEASES 4193 \| MDM2 \| 3.707 \| DISEASES 219541 \| MED19 \| 1.072 \| DISEASES 407975 \| MIR17HG \| 1.066 \| DISEASES 4312 \| MMP1 \| 1.45 \| DISEASES 4318 \| MMP9 \| 3.205 \| DISEASES 64210 \| MMS19 \| 1.653 \| DISEASES 4478 \| MSN \| 1.145 \| DISEASES 92140 \| MTDH \| 1.284 \| DISEASES 4524 \| MTHFR \| 1.855 \| DISEASES 2475 \| MTOR \| 1.55 \| DISEASES 4609 \| MYC \| 3.034 \| DISEASES 4745 \| NELL1 \| 1.145 \| DISEASES 9397 \| NMT2 \| 1.969 \| DISEASES 80023 \| NRSN2 \| 2.269 \| DISEASES 93034 \| NT5C1B \| 1.22 \| DISEASES 152559 \| PAQR3 \| 1.595 \| DISEASES 142 \| PARP1 \| 2.37 \| DISEASES 57125 \| PLXDC1 \| 2.614 \| DISEASES 25913 \| POT1 \| 1.518 \| DISEASES 5728 \| PTEN \| 1.465 \| DISEASES 5745 \| PTH1R \| 2.272 \| DISEASES 5744 \| PTHLH \| 1.505 \| DISEASES 5747 \| PTK2 \| 1.812 \| DISEASES 5788 \| PTPRC \| 1.432 \| DISEASES 55684 \| RABL6 \| 2.274 \| DISEASES 25780 \| RASGRP3 \| 1.402 \| DISEASES 10741 \| RBBP9 \| 1.91 \| DISEASES 3516 \| RBPJ \| 1.643 \| DISEASES 5962 \| RDX \| 1.308 \| DISEASES 387 \| RHOA \| 2.418 \| DISEASES 23221 \| RHOBTB2 \| 1.303 \| DISEASES 6093 \| ROCK1 \| 3.152 \| DISEASES 4920 \| ROR2 \| 1.984 \| DISEASES 860 \| RUNX2 \| 4.122 \| DISEASES 6275 \| S100A4 \| 2.14 \| DISEASES 80031 \| SEMA6D \| 1.775 \| DISEASES 27244 \| SESN1 \| 1.467 \| DISEASES 8879 \| SGPL1 \| 1.23 \| DISEASES 348235 \| SKA2 \| 1.798 \| DISEASES 4088 \| SMAD3 \| 1.071 \| DISEASES 23583 \| SMUG1 \| 2.101 \| DISEASES 79622 \| SNRNP25 \| 3.428 \| DISEASES 6654 \| SOS1 \| 1.52 \| DISEASES 6657 \| SOX2 \| 2.015 \| DISEASES 6696 \| SPP1 \| 2.242 \| DISEASES 81848 \| SPRY4 \| 1.088 \| DISEASES 100642175 \| SPRY4-IT1 \| 1.355 \| DISEASES 6714 \| SRC \| 1.335 \| DISEASES 9901 \| SRGAP3 \| 1.339 \| DISEASES 10716 \| TBR1 \| 1.546 \| DISEASES 7042 \| TGFB2 \| 1.303 \| DISEASES 7059 \| THBS3 \| 1.706 \| DISEASES 338773 \| TMEM119 \| 2.085 \| DISEASES 7124 \| TNF \| 1.464 \| DISEASES 79626 \| TNFAIP8L2 \| 1.165 \| DISEASES 112858 \| TP53RK \| 2.08 \| DISEASES 7175 \| TPR \| 1.151 \| DISEASES 388630 \| TRABD2B \| 2.526 \| DISEASES 9830 \| TRIM14 \| 2.14 \| DISEASES 9322 \| TRIP10 \| 1.173 \| DISEASES 285194 \| TUSC7 \| 2.714 \| DISEASES 7398 \| USP1 \| 1.046 \| DISEASES 7422 \| VEGFA \| 2.702 \| DISEASES 7490 \| WT1 \| 1.653 \| DISEASES 51741 \| WWOX \| 1.321 \| DISEASES 331 \| XIAP \| 1.24 \| DISEASES 7517 \| XRCC3 \| 1.305 \| DISEASES 4904 \| YBX1 \| 1.043 \| DISEASES 6935 \| ZEB1 \| 2.177 \| DISEASES 55893 \| ZNF395 \| 1.843 \| DISEASES 223082 \| ZNRF2 \| 3.027 \| DISEASES 84133 \| ZNRF3 \| 1.368 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) CHEK2 \| 22q12.1

Disease ID	179
Disease	osteosarcoma
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:14) HP:0006489 \| Abnormality of the femoral metaphysis HP:0001939 \| Laboratory abnormality HP:0009919 \| Retinoblastoma HP:0045040 \| Abnormal lactate dehydrogenase activity HP:0001386 \| Joint swelling HP:0003155 \| Elevated alkaline phosphatase HP:0001824 \| Weight loss HP:0012531 \| Pain HP:0002756 \| Pathologic fracture HP:0001945 \| Fever HP:0006491 \| Abnormality of the tibial metaphysis HP:0002797 \| Osteolysis HP:0000944 \| Abnormality of the metaphyses HP:0002669 \| Osteosarcoma
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:34) HP:0002664 \| Neoplasia \| 70 HP:0030731 \| Carcinoma \| 7 HP:0002756 \| Pathologic fracture \| 6 HP:0100242 \| Sarcoma \| 6 HP:0012531 \| Pain \| 4 HP:0012254 \| Ewing's sarcoma \| 4 HP:0005584 \| Renal cell carcinoma \| 3 HP:0006765 \| Chondrosarcoma \| 2 HP:0000718 \| Aggressive behaviour \| 2 HP:0030431 \| Osteochondromas \| 2 HP:0009919 \| Retinoblastoma \| 2 HP:0002149 \| Hyperuricemia \| 1 HP:0003072 \| Hypercalcemia \| 1 HP:0012063 \| Aneurysmal bone cyst \| 1 HP:0011986 \| Ectopic bone formation \| 1 HP:0000969 \| Dropsy \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0005110 \| Atrial fibrillation \| 1 HP:0001907 \| Thromboembolic disease \| 1 HP:0009733 \| Glioma \| 1 HP:0001289 \| Confusion \| 1 HP:0100614 \| Muscle inflammation \| 1 HP:0012034 \| Liposarcoma \| 1 HP:0003287 \| Abnormality of mitochondrial metabolism \| 1 HP:0012062 \| Bone cysts \| 1 HP:0001903 \| Anemia \| 1 HP:0002108 \| Spontaneous pneumothorax \| 1 HP:0030426 \| Ossifying fibroma \| 1 HP:0006775 \| Multiple myeloma \| 1 HP:0001909 \| Leukemia \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0011846 \| Osteoblastoma \| 1 HP:0010614 \| Fibroma \| 1 HP:0011847 \| Giant cell tumor of bone \| 1

Disease ID	179
Disease	osteosarcoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:36) C2364133 \| infection C2119038 \| pleural metastasis C1963077 \| bone pain C1519670 \| tumor angiogenesis C0686619 \| lymph node metastases C0684830 \| axillary metastasis C0555278 \| cerebral metastases C0419203 \| osteopathy C0346993 \| breast metastasis C0333516 \| tumour necrosis C0333516 \| tumor necrosis C0238463 \| thyroid papillary carcinoma C0220776 \| spondyloepiphyseal dysplasia tarda C0220650 \| brain metastases C0153690 \| bony metastases C0153690 \| bone metastasis C0153690 \| bone metastases C0153687 \| cutaneous metastasis C0153685 \| renal metastasis C0153676 \| pulmonary metastasis C0153676 \| pulmonary metastases C0153676 \| lung metastasis C0153676 \| lung metastases C0149781 \| spontaneous pneumothorax C0085077 \| sweet syndrome C0043119 \| werner's syndrome C0041296 \| tuberculosis C0032339 \| rothmund-thomson syndrome C0032339 \| rothmund thomson syndrome C0031117 \| peripheral neuropathy C0029442 \| osteomalacia C0024121 \| lung tumor C0020598 \| hypocalcemia C0007137 \| squamous cell carcinoma C0003881 \| arthrodesis C0000737 \| abdominal pain
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:13) C0153676 \| pulmonary metastasis \| 10 C0153676 \| pulmonary metastases \| 9 C0153676 \| lung metastases \| 5 C0153676 \| lung metastasis \| 4 C0009450 \| infection \| 2 C0032339 \| rothmund-thomson syndrome \| 2 C1519670 \| tumor angiogenesis \| 1 C0153690 \| bone metastases \| 1 C0040038 \| thromboembolism \| 1 C0153690 \| bone metastasis \| 1 C2119038 \| pleural metastasis \| 1 C0333516 \| tumor necrosis \| 1 C0149781 \| spontaneous pneumothorax \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:69)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1042522	19451596	4193	MDM2	umls:C0029463	BeFree	Effect of TP53 Arg72Pro and MDM2 SNP309 polymorphisms on the risk of high-grade osteosarcoma development and survival.	0.012138939	2009	TP53	17	7676154	G	T,C
rs1042522	19451596	7157	TP53	umls:C0029463	BeFree	Effect of TP53 Arg72Pro and MDM2 SNP309 polymorphisms on the risk of high-grade osteosarcoma development and survival.	0.382163696	2009	TP53	17	7676154	G	T,C
rs1047768	23679317	2073	ERCC5	umls:C0029463	BeFree	Our findings showed polymorphisms in ERCC5 rs1047768 and MMS19L rs29001322 to be associated with clinical outcome of osteosarcoma patients undergoing chemotherapy.	0.003995683	2014	ERCC5;BIVM-ERCC5	13	102852167	T	C
rs1047768	23679317	64210	MMS19	umls:C0029463	BeFree	Our findings showed polymorphisms in ERCC5 rs1047768 and MMS19L rs29001322 to be associated with clinical outcome of osteosarcoma patients undergoing chemotherapy.	0.000542884	2014	ERCC5;BIVM-ERCC5	13	102852167	T	C
rs1052667	25136583	2909	ARHGAP35	umls:C0029463	BeFree	Rho GTPase-activating protein 35 rs1052667 polymorphism and osteosarcoma risk and prognosis.	0.000542884	2014	ARHGAP35	19	47004177	C	T
rs11540652	16778209	7157	TP53	umls:C0029463	BeFree	Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H, and R248Q), were established, and the expression profiles of each cell line were then analyzed to detect genes specifically induced by mutant p53.	0.382163696	2006	TP53	17	7674220	C	T
rs11540654	19451596	4193	MDM2	umls:C0029463	BeFree	Effect of TP53 Arg72Pro and MDM2 SNP309 polymorphisms on the risk of high-grade osteosarcoma development and survival.	0.012138939	2009	TP53	17	7676040	C	T,G,A
rs11540654	19451596	7157	TP53	umls:C0029463	BeFree	Effect of TP53 Arg72Pro and MDM2 SNP309 polymorphisms on the risk of high-grade osteosarcoma development and survival.	0.382163696	2009	TP53	17	7676040	C	T,G,A
rs11615	25755792	2067	ERCC1	umls:C0029463	BeFree	In conclusion, our results suggest that ERCC1 rs11615 polymorphism in the DNA repair pathways play an important role in the response to chemotherapy and overall survival of osteosarcoma.	0.002909916	2014	ERCC1	19	45420395	A	G
rs11615	21826087	7507	XPA	umls:C0029463	BeFree	Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs17655) and group 1 (XPA; rs3212986 and rs11615) polymorphisms were analyzed in a group of 130 homogenously treated patients with high-grade osteosarcoma, for association with event-free survival (EFS), using the Kaplan-Meier plots and log-rank test.	0.002638474	2012	ERCC1	19	45420395	A	G
rs11615	21826087	2073	ERCC5	umls:C0029463	BeFree	Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs17655) and group 1 (XPA; rs3212986 and rs11615) polymorphisms were analyzed in a group of 130 homogenously treated patients with high-grade osteosarcoma, for association with event-free survival (EFS), using the Kaplan-Meier plots and log-rank test.	0.003995683	2012	ERCC1	19	45420395	A	G
rs11866002	25663449	59342	SCPEP1	umls:C0029463	BeFree	This study suggests that SNPs in RISC complex genes may be involved in osteosarcoma susceptibility, especially rs11866002 in CNOT1.	0.000271442	2014	CNOT1	16	58553833	C	T
rs11866002	25663449	23019	CNOT1	umls:C0029463	BeFree	This study suggests that SNPs in RISC complex genes may be involved in osteosarcoma susceptibility, especially rs11866002 in CNOT1.	0.000271442	2014	CNOT1	16	58553833	C	T
rs121912654	16778209	7157	TP53	umls:C0029463	BeFree	Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H, and R248Q), were established, and the expression profiles of each cell line were then analyzed to detect genes specifically induced by mutant p53.	0.382163696	2006	TP53	17	7675143	C	T,A
rs121912664	21192060	7157	TP53	umls:C0029463	BeFree	Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and osteosarcoma in southeast Brazil.	0.382163696	2011	TP53	17	7670699	C	T,G,A
rs121913296	22006429	7157	TP53	umls:C0029463	BeFree	Some of the genetic changes identified were in tumor suppressor genes previously identified as altered in osteosarcoma: p53 (arginine→histidine at codon 273 [R273H], R→cysteine at codon 723 [R273C], and tyrosine→C at codon 163 [Y163C]) and retinoblastoma 1 (RB1) (glutamic acid→* at codon 137 [E137*]).	0.382163696	2012	RB1	13	48345108	G	T
rs121913296	22006429	5925	RB1	umls:C0029463	BeFree	Some of the genetic changes identified were in tumor suppressor genes previously identified as altered in osteosarcoma: p53 (arginine→histidine at codon 273 [R273H], R→cysteine at codon 723 [R273C], and tyrosine→C at codon 163 [Y163C]) and retinoblastoma 1 (RB1) (glutamic acid→* at codon 137 [E137*]).	0.133767591	2012	RB1	13	48345108	G	T
rs121913343	22006429	5925	RB1	umls:C0029463	BeFree	Some of the genetic changes identified were in tumor suppressor genes previously identified as altered in osteosarcoma: p53 (arginine→histidine at codon 273 [R273H], R→cysteine at codon 723 [R273C], and tyrosine→C at codon 163 [Y163C]) and retinoblastoma 1 (RB1) (glutamic acid→* at codon 137 [E137*]).	0.133767591	2012	TP53	17	7673803	G	T,A
rs121913343	22006429	7157	TP53	umls:C0029463	BeFree	Some of the genetic changes identified were in tumor suppressor genes previously identified as altered in osteosarcoma: p53 (arginine→histidine at codon 273 [R273H], R→cysteine at codon 723 [R273C], and tyrosine→C at codon 163 [Y163C]) and retinoblastoma 1 (RB1) (glutamic acid→* at codon 137 [E137*]).	0.382163696	2012	TP53	17	7673803	G	T,A
rs13181	23098477	2068	ERCC2	umls:C0029463	BeFree	We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERCC2 Lys751Gln, with risk of death from osteosarcoma in a Chinese population, indicating ERCC1 118T/T and ERCC2 A/A may be used as surrogate markers for clinical outcome of osteosarcoma treatment with cisplatin.	0.003995683	2012	ERCC2;KLC3	19	45351661	T	A,G
rs13181	21826087	7507	XPA	umls:C0029463	BeFree	Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs17655) and group 1 (XPA; rs3212986 and rs11615) polymorphisms were analyzed in a group of 130 homogenously treated patients with high-grade osteosarcoma, for association with event-free survival (EFS), using the Kaplan-Meier plots and log-rank test.	0.002638474	2012	ERCC2;KLC3	19	45351661	T	A,G
rs13181	21826087	2073	ERCC5	umls:C0029463	BeFree	Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs17655) and group 1 (XPA; rs3212986 and rs11615) polymorphisms were analyzed in a group of 130 homogenously treated patients with high-grade osteosarcoma, for association with event-free survival (EFS), using the Kaplan-Meier plots and log-rank test.	0.003995683	2012	ERCC2;KLC3	19	45351661	T	A,G
rs13181	25023406	2068	ERCC2	umls:C0029463	BeFree	In summary, the ERCC2 Lys751Gln and ERCC5 His46His polymorphisms might influence osteosarcoma prognosis.	0.003995683	2014	ERCC2;KLC3	19	45351661	T	A,G
rs13181	23317281	2068	ERCC2	umls:C0029463	BeFree	Our study indicated that GSTP1 and ERCC2 Lys751Gln polymorphisms might be candidate pharmacogenomic factors to be explored in the future to identify osteosarcoma patients who might benefit from chemotherapy.	0.003995683	2012	ERCC2;KLC3	19	45351661	T	A,G
rs13181	25023406	2073	ERCC5	umls:C0029463	BeFree	In summary, the ERCC2 Lys751Gln and ERCC5 His46His polymorphisms might influence osteosarcoma prognosis.	0.003995683	2014	ERCC2;KLC3	19	45351661	T	A,G
rs13181	23098477	2067	ERCC1	umls:C0029463	BeFree	We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERCC2 Lys751Gln, with risk of death from osteosarcoma in a Chinese population, indicating ERCC1 118T/T and ERCC2 A/A may be used as surrogate markers for clinical outcome of osteosarcoma treatment with cisplatin.	0.002909916	2012	ERCC2;KLC3	19	45351661	T	A,G
rs13181	25824708	2073	ERCC5	umls:C0029463	BeFree	Through quantitative analysis, the meta-analysis showed that ERCC2 Lys751Gln (ORGG vs. AA = 0.40 (95%CI = 0.1-0.86), P heterogeneity = 0.502; I (2) = 0 %) and ERCC5 His46His (ORCC vs. TT = 0.37 (95%CI = 0.15-0.93), P heterogeneity = 0.569; I (2) = 0 %) polymorphisms might influence the prognosis of patients with osteosarcoma [1].	0.003995683	2015	ERCC2;KLC3	19	45351661	T	A,G
rs13181	25824708	2068	ERCC2	umls:C0029463	BeFree	Through quantitative analysis, the meta-analysis showed that ERCC2 Lys751Gln (ORGG vs. AA = 0.40 (95%CI = 0.1-0.86), P heterogeneity = 0.502; I (2) = 0 %) and ERCC5 His46His (ORCC vs. TT = 0.37 (95%CI = 0.15-0.93), P heterogeneity = 0.569; I (2) = 0 %) polymorphisms might influence the prognosis of patients with osteosarcoma [1].	0.003995683	2015	ERCC2;KLC3	19	45351661	T	A,G
rs137853008	NA	11200	CHEK2	umls:C0029463	CLINVAR	NA	0.363267234	NA	CHEK2	22	28734673	C	A
rs148924904	22006429	5925	RB1	umls:C0029463	BeFree	Some of the genetic changes identified were in tumor suppressor genes previously identified as altered in osteosarcoma: p53 (arginine→histidine at codon 273 [R273H], R→cysteine at codon 723 [R273C], and tyrosine→C at codon 163 [Y163C]) and retinoblastoma 1 (RB1) (glutamic acid→* at codon 137 [E137*]).	0.133767591	2012	TP53	17	7675124	T	C
rs148924904	22006429	7157	TP53	umls:C0029463	BeFree	Some of the genetic changes identified were in tumor suppressor genes previously identified as altered in osteosarcoma: p53 (arginine→histidine at codon 273 [R273H], R→cysteine at codon 723 [R273C], and tyrosine→C at codon 163 [Y163C]) and retinoblastoma 1 (RB1) (glutamic acid→* at codon 137 [E137*]).	0.382163696	2012	TP53	17	7675124	T	C
rs17206779	23727862	11174	ADAMTS6	umls:C0029463	GWASCAT	Genome-wide association study identifies two susceptibility loci for osteosarcoma.	0.12	2013	ADAMTS6	5	65151950	C	T
rs17655	21826087	2073	ERCC5	umls:C0029463	BeFree	Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs17655) and group 1 (XPA; rs3212986 and rs11615) polymorphisms were analyzed in a group of 130 homogenously treated patients with high-grade osteosarcoma, for association with event-free survival (EFS), using the Kaplan-Meier plots and log-rank test.	0.003995683	2012	ERCC5;BIVM-ERCC5	13	102875652	G	C
rs17655	21826087	7507	XPA	umls:C0029463	BeFree	Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs17655) and group 1 (XPA; rs3212986 and rs11615) polymorphisms were analyzed in a group of 130 homogenously treated patients with high-grade osteosarcoma, for association with event-free survival (EFS), using the Kaplan-Meier plots and log-rank test.	0.002638474	2012	ERCC5;BIVM-ERCC5	13	102875652	G	C
rs17883862	NA	11200	CHEK2	umls:C0029463	CLINVAR	NA	0.363267234	NA	CHEK2	22	28734468	G	A
rs1799793	23098477	2068	ERCC2	umls:C0029463	BeFree	We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERCC2 Lys751Gln, with risk of death from osteosarcoma in a Chinese population, indicating ERCC1 118T/T and ERCC2 A/A may be used as surrogate markers for clinical outcome of osteosarcoma treatment with cisplatin.	0.003995683	2012	ERCC2	19	45364001	C	T
rs1799793	21826087	2068	ERCC2	umls:C0029463	BeFree	This study suggests that XPD rs1799793 could be a marker of osteosarcoma associated with features conferring either a better prognosis or a better outcome after platinum therapy, or both.	0.003995683	2012	ERCC2	19	45364001	C	T
rs1799793	23098477	2067	ERCC1	umls:C0029463	BeFree	We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERCC2 Lys751Gln, with risk of death from osteosarcoma in a Chinese population, indicating ERCC1 118T/T and ERCC2 A/A may be used as surrogate markers for clinical outcome of osteosarcoma treatment with cisplatin.	0.002909916	2012	ERCC2	19	45364001	C	T
rs1799793	21826087	7507	XPA	umls:C0029463	BeFree	Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs17655) and group 1 (XPA; rs3212986 and rs11615) polymorphisms were analyzed in a group of 130 homogenously treated patients with high-grade osteosarcoma, for association with event-free survival (EFS), using the Kaplan-Meier plots and log-rank test.	0.002638474	2012	ERCC2	19	45364001	C	T
rs1799793	21826087	2073	ERCC5	umls:C0029463	BeFree	Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs17655) and group 1 (XPA; rs3212986 and rs11615) polymorphisms were analyzed in a group of 130 homogenously treated patients with high-grade osteosarcoma, for association with event-free survival (EFS), using the Kaplan-Meier plots and log-rank test.	0.003995683	2012	ERCC2	19	45364001	C	T
rs1906953	23727862	2914	GRM4	umls:C0029463	GWASCAT	Genome-wide association study identifies two susceptibility loci for osteosarcoma.	0.240542884	2013	GRM4	6	34068669	C	T
rs199476133	17276738	4508	ATP6	umls:C0029463	BeFree	In order to identify genes whose expression is altered as a result of the presence of mtDNA mutations, DNA microarray analysis was performed using human 143B osteosarcoma cells harboring 3243A>G [tRNA-Leu (UUR)] and 8993T>G [ATPase6 Leu156Arg] mtDNA mutations associated with MELAS and NARP syndromes (2SD and NARP3-1 cybrid cells), respectively.	0.000542884	2007	ATP6	MT	8993	T	C,G
rs2086452	23727862	170691	ADAMTS17	umls:C0029463	GWASCAT	Genome-wide association study identifies two susceptibility loci for osteosarcoma.	0.12	2013	ADAMTS17	15	100188458	G	A
rs2279744	19451596	4193	MDM2	umls:C0029463	GAD	[Effect of TP53 Arg72Pro and MDM2 SNP309 polymorphisms on the risk of high-grade osteosarcoma development and survival.]	0.012138939	2009	MDM2	12	68808800	T	G
rs231775	21612409	1493	CTLA4	umls:C0029463	BeFree	The current study evaluated the association of four CTLA-4 gene mutations, -1661A/G (rs4553808), -318C/T (rs5742909), +49G/A (rs231775), and CT60A/G (rs3087243), with osteosarcoma in the Chinese population.	0.001628651	2011	CTLA4	2	203867991	A	G,T
rs28934573	NA	7157	TP53	umls:C0029463	CLINVAR	NA	0.382163696	NA	TP53	17	7674241	G	C,A
rs28934574	NA	7157	TP53	umls:C0029463	CLINVAR	NA	0.382163696	NA	TP53	17	7673776	G	C,A
rs28934575	NA	7157	TP53	umls:C0029463	CLINVAR	NA	0.382163696	NA	TP53	17	7674230	C	T,A
rs28934576	17363498	7157	TP53	umls:C0029463	BeFree	On the other hand, transfection of p53-R273H into p53 null human osteosarcoma Saos-2 cells down-regulated procaspase-3 level and induced resistance to the drug toxicity and drug-induced apoptosis.	0.382163696	2007	TP53	17	7673802	C	T,A
rs28934576	22006429	7157	TP53	umls:C0029463	BeFree	Some of the genetic changes identified were in tumor suppressor genes previously identified as altered in osteosarcoma: p53 (arginine→histidine at codon 273 [R273H], R→cysteine at codon 723 [R273C], and tyrosine→C at codon 163 [Y163C]) and retinoblastoma 1 (RB1) (glutamic acid→* at codon 137 [E137*]).	0.382163696	2012	TP53	17	7673802	C	T,A
rs28934576	22006429	5925	RB1	umls:C0029463	BeFree	Some of the genetic changes identified were in tumor suppressor genes previously identified as altered in osteosarcoma: p53 (arginine→histidine at codon 273 [R273H], R→cysteine at codon 723 [R273C], and tyrosine→C at codon 163 [Y163C]) and retinoblastoma 1 (RB1) (glutamic acid→* at codon 137 [E137*]).	0.133767591	2012	TP53	17	7673802	C	T,A
rs28934578	16778209	7157	TP53	umls:C0029463	BeFree	Osteosarcoma U2OS cell lines, which express inducible p53 mutants (V157F, R175H, and R248Q), were established, and the expression profiles of each cell line were then analyzed to detect genes specifically induced by mutant p53.	0.382163696	2006	TP53	17	7675088	C	T,A
rs28934578	15578696	7157	TP53	umls:C0029463	BeFree	Transfection of mutant p53 (R175H) to p53-null osteosarcoma Saos-2 cells suppressed apoptosis induced by doxorubicin (DOX), cisplatin and gamma radiation.	0.382163696	2005	TP53	17	7675088	C	T,A
rs29001322	23679317	2073	ERCC5	umls:C0029463	BeFree	Our findings showed polymorphisms in ERCC5 rs1047768 and MMS19L rs29001322 to be associated with clinical outcome of osteosarcoma patients undergoing chemotherapy.	0.003995683	2014	MMS19	10	97462918	A	G
rs29001322	23679317	64210	MMS19	umls:C0029463	BeFree	Our findings showed polymorphisms in ERCC5 rs1047768 and MMS19L rs29001322 to be associated with clinical outcome of osteosarcoma patients undergoing chemotherapy.	0.000542884	2014	MMS19	10	97462918	A	G
rs3087243	21612409	1493	CTLA4	umls:C0029463	BeFree	The current study evaluated the association of four CTLA-4 gene mutations, -1661A/G (rs4553808), -318C/T (rs5742909), +49G/A (rs231775), and CT60A/G (rs3087243), with osteosarcoma in the Chinese population.	0.001628651	2011	CTLA4	2	203874196	G	A
rs3212227	23991654	3592	IL12A	umls:C0029463	BeFree	The IL-12A rs568408 and IL-12B rs3212227 may confer the susceptibility to osteosarcoma risk.	0.000542884	2013	IL12B	5	159315942	T	G
rs3212986	21826087	7507	XPA	umls:C0029463	BeFree	Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs17655) and group 1 (XPA; rs3212986 and rs11615) polymorphisms were analyzed in a group of 130 homogenously treated patients with high-grade osteosarcoma, for association with event-free survival (EFS), using the Kaplan-Meier plots and log-rank test.	0.002638474	2012	ERCC1;CD3EAP	19	45409478	C	A
rs3212986	21826087	2073	ERCC5	umls:C0029463	BeFree	Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs17655) and group 1 (XPA; rs3212986 and rs11615) polymorphisms were analyzed in a group of 130 homogenously treated patients with high-grade osteosarcoma, for association with event-free survival (EFS), using the Kaplan-Meier plots and log-rank test.	0.003995683	2012	ERCC1;CD3EAP	19	45409478	C	A
rs3212986	23098477	2068	ERCC2	umls:C0029463	BeFree	We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERCC2 Lys751Gln, with risk of death from osteosarcoma in a Chinese population, indicating ERCC1 118T/T and ERCC2 A/A may be used as surrogate markers for clinical outcome of osteosarcoma treatment with cisplatin.	0.003995683	2012	ERCC1;CD3EAP	19	45409478	C	A
rs3212986	23098477	2067	ERCC1	umls:C0029463	BeFree	We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERCC2 Lys751Gln, with risk of death from osteosarcoma in a Chinese population, indicating ERCC1 118T/T and ERCC2 A/A may be used as surrogate markers for clinical outcome of osteosarcoma treatment with cisplatin.	0.002909916	2012	ERCC1;CD3EAP	19	45409478	C	A
rs386580934	23098477	2068	ERCC2	umls:C0029463	BeFree	We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERCC2 Lys751Gln, with risk of death from osteosarcoma in a Chinese population, indicating ERCC1 118T/T and ERCC2 A/A may be used as surrogate markers for clinical outcome of osteosarcoma treatment with cisplatin.	0.003995683	2012	NA	NA	NA	NA	NA
rs386580934	23098477	2067	ERCC1	umls:C0029463	BeFree	We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERCC2 Lys751Gln, with risk of death from osteosarcoma in a Chinese population, indicating ERCC1 118T/T and ERCC2 A/A may be used as surrogate markers for clinical outcome of osteosarcoma treatment with cisplatin.	0.002909916	2012	NA	NA	NA	NA	NA
rs4553808	21612409	1493	CTLA4	umls:C0029463	BeFree	The current study evaluated the association of four CTLA-4 gene mutations, -1661A/G (rs4553808), -318C/T (rs5742909), +49G/A (rs231775), and CT60A/G (rs3087243), with osteosarcoma in the Chinese population.	0.001628651	2011	CTLA4	2	203866282	A	G
rs568408	23991654	3592	IL12A	umls:C0029463	BeFree	The IL-12A rs568408 and IL-12B rs3212227 may confer the susceptibility to osteosarcoma risk.	0.000542884	2013	IL12A;IL12A-AS1	3	159995680	G	A
rs5742909	21612409	1493	CTLA4	umls:C0029463	BeFree	The current study evaluated the association of four CTLA-4 gene mutations, -1661A/G (rs4553808), -318C/T (rs5742909), +49G/A (rs231775), and CT60A/G (rs3087243), with osteosarcoma in the Chinese population.	0.001628651	2011	CTLA4	2	203867624	C	T
rs7023329	23361049	4507	MTAP	umls:C0029463	BeFree	One SNP in MTAP (methylthioadenosine phosphorylase) (rs7023329) that was previously associated with melanoma and nevi in multiple genome-wide association studies was associated with CRC, CA and OS by ASSET (P=0.007).	0.000814326	2013	MTAP	9	21816529	A	G
rs79184941	15310757	2263	FGFR2	umls:C0029463	BeFree	Stable clones of the human MG63 osteosarcoma cells (MG63-Ap and MG63-IIIc) overexpressing a splice variant form of FGFR2 with or without the S252W mutation (FGFR2IIIcS252W and FGFR2IIIc) showed a higher RUNX2 mRNA expression than parental MG63 cells.	0.003538676	2004	FGFR2	10	121520163	G	C,A
rs9266193	21453059	3106	HLA-B	umls:C0029463	BeFree	Cytotoxic T-lymphocyte antigen-4 +49G/A polymorphism is associated with increased risk of osteosarcoma.	0.001085767	2011	HLA-B;MIR6891;LOC105375016	6	31357011	T	A,C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:34)
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
2	6461421	rs7591996	A	C	rs7591996	23727862	1.00E-08	NA	1.39	[1.23-1.54]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs7591996-C	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
2	6478838	rs13403411	G	A	rs13403411	23727862	5.20E-06	NA	1.3	[1.16-1.46]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs13403411-T	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
2	6523994	rs10208273	A	G	rs10208273	23727862	2.93E-07	NA	1.35	[1.21-1.52]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs10208273-C	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
2	40136231	rs2888638	T	G	rs2888638	23727862	1.03E-05	NA	1.77	[1.38-2.29]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs2888638-G	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
2	154273475	rs11673716	G	A	rs11673716	23727862	2.06E-05	NA	1.35	[1.18-1.56]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs11673716-C	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
3	154095778	rs12488867	C	T	rs12488867	23727862	3.78E-04	NA	1.28	[1.12-1.46]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs12488867-T	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
4	28324928	rs10025742	T	C	rs10025742	23727862	2.79E-05	NA	1.31	[1.15-1.48]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs10025742-G	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
5	64447777	rs17206779	C	T	rs17206779	23727862	5.00E-07	NA	1.33	[1.19-1.47]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs17206779-G	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
5	131901225	rs2244012	A	G	rs2244012	23727862	8.94E-04	NA	1.25	[1.10-1.42]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs2244012-G	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
6	34036446	rs1906953	C	T	rs1906953	23727862	8.00E-09	NA	1.57	[1.35-1.83]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs1906953-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
7	28730009	rs9691873	A	C	rs9691873	23727862	9.61E-05	NA	1.25	[1.12-1.41]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs9691873-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
7	28857606	rs12531253	G	A	rs12531253	23727862	2.11E-04	NA	1.27	[1.12-1.44]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs12531253-G	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
8	1821516	rs12545104	A	G	rs12545104	23727862	1.86E-05	NA	1.27	[1.14-1.42]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs12545104-G	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
8	120218302	rs9297594	C	T	rs9297594	23727862	2.24E-04	NA	1.26	[1.11-1.42]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs9297594-T	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
8	125667226	rs7813190	T	C	rs7813190	23727862	2.50E-04	NA	1.69	[1.27-2.22]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs7813190-T	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
8	128280808	rs11777807	C	T	rs11777807	23727862	4.60E-05	NA	1.29	[1.14-1.46]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs11777807-T	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
8	128288920	rs17378189	C	T	rs17378189	23727862	8.16E-04	NA	1.24	[1.09-1.41]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs17378189-T	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
8	128295710	rs412835	C	A	rs412835	23727862	8.50E-04	NA	1.23	[1.09-1.41]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs412835-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
8	128482642	rs4871799	G	A	rs4871799	23727862	8.53E-04	NA	1.3	[1.11-1.52]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs4871799-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
8	128599672	rs4551307	A	G	rs4551307	23727862	3.59E-05	NA	1.37	[1.18-1.59]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs4551307-G	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
8	128599672	rs4551307	A	G	rs4551307	23727862	8.22E-04	NA	1.31	[1.12-1.54]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs4551307-G	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
8	129532118	rs10089519	A	G	rs10089519	23727862	3.87E-04	NA	1.27	[1.11-1.44]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs10089519-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
8	130727351	rs4517087	A	G	rs4517087	23727862	5.00E-04	NA	1.61	[1.23-2.13]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs4517087-G	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
8	140963276	rs2665917	T	C	rs2665917	23727862	7.98E-04	NA	1.23	[1.09-1.39]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs2665917-C	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
8	142480610	rs4907398	C	T	rs4907398	23727862	8.30E-04	NA	1.59	[1.21-2.10]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs4907398-G	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
8	144548806	rs369051	A	G	rs369051	23727862	1.16E-04	NA	1.37	[1.16-1.61]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs369051-G	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
10	5804531	rs2797501	G	A	rs2797501	23727862	8.00E-06	NA	1.61	[1.30-1.96]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs2797501-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
10	79200117	rs10762759	A	G	rs10762759	23727862	1.23E-04	NA	1.33	[1.15-1.53]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs10762759-C	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
13	51194405	rs573666	C	T	rs573666	23727862	9.00E-06	NA	1.3	[1.16-1.47]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs573666-G	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
15	38118653	rs8036460	C	A	rs8036460	23727862	5.83E-05	NA	1.3	[1.15-1.48]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs8036460-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
15	93157519	rs432364	T	G	rs432364	23727862	9.93E-05	NA	1.27	[1.12-1.41]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs432364-A	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
15	93159737	rs8043510	A	G	rs8043510	23727862	4.73E-04	NA	1.23	[1.10-1.38]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs8043510-C	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
15	100728663	rs2086452	G	A	rs2086452	23727862	1.00E-06	NA	1.35	[1.19-1.52]	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs2086452-C	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural
17	58048915	rs4632189	A	C	rs4632189	23727862	2.55E-05	NA	1.6	NA	694 European ancestry cases; 2,703 European ancestry controls	European(3397)	ALL(3397)	EUR(3397)	ALL(3397)	Osteosarcoma	HPOID:0002669	Osteosarcoma	DOID:3347	osteosarcoma	D012516	Osteosarcoma	EFOID:0000637	osteosarcoma	Osteosarcoma	rs4632189-G	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't	Research Support, N.I.H., Intramural

Mapped by lexical matching(Total Items:6)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0006489	Abnormality of the femoral metaphysis	MP:0008274	failure of bone ossification	failure to initiate or a block in the process of the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000944	Abnormality of the metaphyses	MP:0013621	decreased internal diameter of femur	reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur
HP:0001386	Joint swelling	MP:0002936	joint swelling	enlargement of the joints, usually due to an accumulation of fluid
HP:0001939	Abnormality of metabolism/homeostasis	MP:0020010	decreased bone mineral density of femur	reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh
HP:0003155	Elevated alkaline phosphatase	MP:0011584	increased alkaline phosphatase activity	greater ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum
HP:0001824	Weight loss	MP:0005114	premature hair loss	release of fur at an earlier than expected time

Mapped by homologous gene(Total Items:12)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0012531	Pain	MP:0011968	decreased threshold for auditory brainstem response	reduction in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system
HP:0009919	Retinoblastoma	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
HP:0002797	Osteolysis	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
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:0001386	Joint swelling	MP:0013743	ciliary body hypoplasia	underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris
HP:0003155	Elevated alkaline phosphatase	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0006489	Abnormality of the femoral metaphysis	MP:0011087	neonatal lethality, complete penetrance	death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)
HP:0001939	Abnormality of metabolism/homeostasis	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0002756	Pathologic fracture	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002669	Osteosarcoma	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000944	Abnormality of the metaphyses	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone

Disease ID	179
Disease	osteosarcoma
Case	(Waiting for update.)