PedAM

Pediatric Disease Annotations & Medicines


	rhabdomyosarcoma

Disease ID	178
Disease	rhabdomyosarcoma
Definition	A malignant solid tumor arising from mesenchymal tissues which normally differentiate to form striated muscle. It can occur in a wide variety of sites. It is divided into four distinct types: pleomorphic, predominantly in male adults; alveolar (RHABDOMYOSARCOMA, ALVEOLAR), mainly in adolescents and young adults; embryonal (RHABDOMYOSARCOMA, EMBRYONAL), predominantly in infants and children; and botryoidal, also in young children. It is one of the most frequently occurring soft tissue sarcomas and the most common in children under 15. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p2186; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1647-9)
Synonym	[m]rhabdomyosarcoma nos [m]rhabdomyosarcoma nos (morphologic abnormality) rhabdomyoblastoma rhabdomyosarcoma (disorder) rhabdomyosarcoma [disease/finding] rhabdomyosarcoma, malignant rhabdomyosarcoma, no subtype rhabdomyosarcoma, no subtype (morphologic abnormality) rhabdomyosarcoma, nos rhabdomyosarcomas rhabdosarcoma
Orphanet	ORPHANET:780
DOID	DOID:3247
UMLS	C0035412
MeSH	D012208
SNOMED-CT	SNOMEDCT_US_2016_09_01:302847003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:47) C0039538 \| teratoma \| 5 C1261473 \| sarcoma \| 5 C1368910 \| mature teratoma \| 3 C1261473 \| sarcomas \| 2 C0346976 \| pancreatic metastasis \| 2 C0553580 \| ewing's sarcoma \| 2 C0153687 \| skin metastasis \| 2 C1261473 \| soft tissue sarcoma \| 2 C0007642 \| cellulitis \| 1 C0026896 \| myasthenia gravis \| 1 C0005684 \| bladder cancer \| 1 C1261473 \| soft tissue sarcomas \| 1 C0035335 \| retinoblastoma \| 1 C0027708 \| nephroma \| 1 C0029463 \| osteosarcoma \| 1 C0004779 \| gorlin syndrome \| 1 C0007140 \| carcinosarcoma \| 1 C1334699 \| mesenchymal tumor \| 1 C0008497 \| choriocarcinoma \| 1 C0085669 \| acute leukemia \| 1 C0023418 \| leukemia \| 1 C1720771 \| scrotal hydrocele \| 1 C0007138 \| urothelial carcinoma \| 1 C0025149 \| medulloblastoma \| 1 C0027662 \| multiple endocrine neoplasia \| 1 C0025268 \| multiple endocrine neoplasia type 2 \| 1 C0007129 \| merkel cell carcinoma \| 1 C0011649 \| dermoid \| 1 C0011649 \| dermoid cyst \| 1 C0025268 \| multiple endocrine neoplasia type 2a \| 1 C0280630 \| uterine carcinosarcoma \| 1 C0206655 \| alveolar rhabdomyosarcoma \| 1 C0553580 \| ewing sarcoma \| 1 C0020305 \| fetal hydrops \| 1 C0006142 \| breast cancer \| 1 C0027819 \| neuroblastoma \| 1 C0009402 \| colorectal cancer \| 1 C0025202 \| melanoma \| 1 C0026764 \| multiple myeloma \| 1 C0007113 \| rectal cancer \| 1 C0175691 \| dubowitz syndrome \| 1 C0007137 \| squamous cell carcinoma \| 1 C1333990 \| hereditary nonpolyposis colorectal cancer \| 1 C0153676 \| pulmonary metastases \| 1 C0376545 \| hematological malignancy \| 1 C0220650 \| brain metastases \| 1 C0007140 \| carcinosarcomas \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) CNR1 \| 1268 \| CTD_human IGF2 \| 3481 \| CTD_human VEGFA \| 7422 \| CTD_human PTCH1 \| 5727 \| CTD_human PMS2 \| 5395 \| CTD_human TIMM10 \| 26519 \| CTD_human PTMA \| 5757 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 7157 \| TP53 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:385) 64132 \| XYLT2 \| DISEASES 1015 \| CDH17 \| DISEASES 10911 \| UTS2 \| DISEASES 51009 \| DERL2 \| DISEASES 2249 \| FGF4 \| DISEASES 1947 \| EFNB1 \| DISEASES 6725 \| SRMS \| DISEASES 4313 \| MMP2 \| DISEASES 8797 \| TNFRSF10A \| DISEASES 1158 \| CKM \| DISEASES 1048 \| CEACAM5 \| DISEASES 3082 \| HGF \| DISEASES 6143 \| RPL19 \| DISEASES 1440 \| CSF3 \| DISEASES 6198 \| RPS6KB1 \| DISEASES 8402 \| SLC25A11 \| DISEASES 3558 \| IL2 \| DISEASES 595 \| CCND1 \| DISEASES 329 \| BIRC2 \| DISEASES 4618 \| MYF6 \| DISEASES 4617 \| MYF5 \| DISEASES 2735 \| GLI1 \| DISEASES 2026 \| ENO2 \| DISEASES 79923 \| NANOG \| DISEASES 80736 \| SLC44A4 \| DISEASES 9841 \| ZBTB24 \| DISEASES 5961 \| PRPH2 \| DISEASES 1653 \| DDX1 \| DISEASES 8440 \| NCK2 \| DISEASES 3485 \| IGFBP2 \| DISEASES 7475 \| WNT6 \| DISEASES 116444 \| GRIN3B \| DISEASES 9429 \| ABCG2 \| DISEASES 11064 \| CNTRL \| DISEASES 4801 \| NFYB \| DISEASES 8743 \| TNFSF10 \| DISEASES 4656 \| MYOG \| DISEASES 1026 \| CDKN1A \| DISEASES 79414 \| LRFN3 \| DISEASES 6495 \| SIX1 \| DISEASES 8089 \| YEATS4 \| DISEASES 6608 \| SMO \| DISEASES 4654 \| MYOD1 \| DISEASES 968 \| CD68 \| DISEASES 10389 \| SCML2 \| DISEASES 10439 \| OLFM1 \| DISEASES 9253 \| NUMBL \| DISEASES 4294 \| MAP3K10 \| DISEASES 2670 \| GFAP \| DISEASES 1160 \| CKMT2 \| DISEASES 2521 \| FUS \| DISEASES 3845 \| KRAS \| DISEASES 10752 \| CHL1 \| DISEASES 57498 \| KIDINS220 \| DISEASES 26519 \| TIMM10 \| DISEASES 5156 \| PDGFRA \| DISEASES 1019 \| CDK4 \| DISEASES 27429 \| HTRA2 \| DISEASES 4856 \| NOV \| DISEASES 2295 \| FOXF2 \| DISEASES 5460 \| POU5F1 \| DISEASES 2660 \| MSTN \| DISEASES 4069 \| LYZ \| DISEASES 1112 \| FOXN3 \| DISEASES 5159 \| PDGFRB \| DISEASES 10858 \| CYP46A1 \| DISEASES 7528 \| YY1 \| DISEASES 2294 \| FOXF1 \| DISEASES 2201 \| FBN2 \| DISEASES 26001 \| RNF167 \| DISEASES 10558 \| SPTLC1 \| DISEASES 5595 \| MAPK3 \| DISEASES 6598 \| SMARCB1 \| DISEASES 81930 \| KIF18A \| DISEASES 6855 \| SYP \| DISEASES 3977 \| LIFR \| DISEASES 85461 \| TANC1 \| DISEASES 975 \| CD81 \| DISEASES 943 \| TNFRSF8 \| DISEASES 5290 \| PIK3CA \| DISEASES 6883 \| TAF12 \| DISEASES 60482 \| SLC5A7 \| DISEASES 950 \| SCARB2 \| DISEASES 80273 \| GRPEL1 \| DISEASES 5243 \| ABCB1 \| DISEASES 50846 \| DHH \| DISEASES 6601 \| SMARCC2 \| DISEASES 122953 \| JDP2 \| DISEASES 3480 \| IGF1R \| DISEASES 5045 \| FURIN \| DISEASES 7157 \| TP53 \| DISEASES 2064 \| ERBB2 \| DISEASES 55527 \| FEM1A \| DISEASES 207 \| AKT1 \| DISEASES 126969 \| SLC44A3 \| DISEASES 55204 \| GOLPH3L \| DISEASES 55502 \| HES6 \| DISEASES 56929 \| FEM1C \| DISEASES 1956 \| EGFR \| DISEASES 85417 \| CCNB3 \| DISEASES 8795 \| TNFRSF10B \| DISEASES 51110 \| LACTB2 \| DISEASES 4851 \| NOTCH1 \| DISEASES 22897 \| CEP164 \| DISEASES 6876 \| TAGLN \| DISEASES 4613 \| MYCN \| DISEASES 55294 \| FBXW7 \| DISEASES 2321 \| FLT1 \| DISEASES 10413 \| YAP1 \| DISEASES 7070 \| THY1 \| DISEASES 843 \| CASP10 \| DISEASES 701 \| BUB1B \| DISEASES 3815 \| KIT \| DISEASES 8209 \| C21orf33 \| DISEASES 2264 \| FGFR4 \| DISEASES 201299 \| RDM1 \| DISEASES 9965 \| FGF19 \| DISEASES 6006 \| RHCE \| DISEASES 3549 \| IHH \| DISEASES 5584 \| PRKCI \| DISEASES 5500 \| PPP1CB \| DISEASES 308 \| ANXA5 \| DISEASES 3600 \| IL15 \| DISEASES 64399 \| HHIP \| DISEASES 6469 \| SHH \| DISEASES 121643 \| FOXN4 \| DISEASES 1152 \| CKB \| DISEASES 10818 \| FRS2 \| DISEASES 3611 \| ILK \| DISEASES 5347 \| PLK1 \| DISEASES 4665 \| NAB2 \| DISEASES 26585 \| GREM1 \| DISEASES 1159 \| CKMT1B \| DISEASES 6786 \| STIM1 \| DISEASES 762 \| CA4 \| DISEASES 84798 \| C19orf48 \| DISEASES 3489 \| IGFBP6 \| DISEASES 1877 \| E4F1 \| DISEASES 4255 \| MGMT \| DISEASES 5604 \| MAP2K1 \| DISEASES 3233 \| HOXD4 \| DISEASES 598 \| BCL2L1 \| DISEASES 3479 \| IGF1 \| DISEASES 200350 \| FOXD4L1 \| DISEASES 3308 \| HSPA4 \| DISEASES 7324 \| UBE2E1 \| DISEASES 2299 \| FOXI1 \| DISEASES 3667 \| IRS1 \| DISEASES 26287 \| ANKRD2 \| DISEASES 2353 \| FOS \| DISEASES 9836 \| LCMT2 \| DISEASES 794 \| CALB2 \| DISEASES 54205 \| CYCS \| DISEASES 57659 \| ZBTB4 \| DISEASES 5002 \| SLC22A18 \| DISEASES 5897 \| RAG2 \| DISEASES 9134 \| CCNE2 \| DISEASES 116113 \| FOXP4 \| DISEASES 6169 \| RPL38 \| DISEASES 3265 \| HRAS \| DISEASES 947 \| CD34 \| DISEASES 54905 \| CYP2W1 \| DISEASES 836 \| CASP3 \| DISEASES 137735 \| ABRA \| DISEASES 91607 \| SLFN11 \| DISEASES 9149 \| DYRK1B \| DISEASES 10102 \| TSFM \| DISEASES 7030 \| TFE3 \| DISEASES 9448 \| MAP4K4 \| DISEASES 163 \| AP2B1 \| DISEASES 283150 \| FOXR1 \| DISEASES 4233 \| MET \| DISEASES 10956 \| OS9 \| DISEASES 4684 \| NCAM1 \| DISEASES 2146 \| EZH2 \| DISEASES 8648 \| NCOA1 \| DISEASES 245806 \| VGLL2 \| DISEASES 9242 \| MSC \| DISEASES 6867 \| TACC1 \| DISEASES 2118 \| ETV4 \| DISEASES 201516 \| ZSCAN4 \| DISEASES 3039 \| HBA1 \| DISEASES 2274 \| FHL2 \| DISEASES 144455 \| E2F7 \| DISEASES 6657 \| SOX2 \| DISEASES 2027 \| ENO3 \| DISEASES 2314 \| FLII \| DISEASES 2932 \| GSK3B \| DISEASES 5366 \| PMAIP1 \| DISEASES 2300 \| FOXL1 \| DISEASES 353500 \| BMP8A \| DISEASES 3768 \| KCNJ12 \| DISEASES 64764 \| CREB3L2 \| DISEASES 4105 \| MAGEA6 \| DISEASES 842 \| CASP9 \| DISEASES 5155 \| PDGFB \| DISEASES 84439 \| HHIPL1 \| DISEASES 7490 \| WT1 \| DISEASES 6007 \| RHD \| DISEASES 430 \| ASCL2 \| DISEASES 5727 \| PTCH1 \| DISEASES 668 \| FOXL2 \| DISEASES 9502 \| XAGE2 \| DISEASES 7270 \| TTF1 \| DISEASES 3320 \| HSP90AA1 \| DISEASES 2306 \| FOXD2 \| DISEASES 115557 \| ARHGEF25 \| DISEASES 3607 \| FOXK2 \| DISEASES 11335 \| CBX3 \| DISEASES 3092 \| HIP1 \| DISEASES 10495 \| ENOX2 \| DISEASES 55775 \| TDP1 \| DISEASES 2042 \| EPHA3 \| DISEASES 3091 \| HIF1A \| DISEASES 23462 \| HEY1 \| DISEASES 23583 \| SMUG1 \| DISEASES 7430 \| EZR \| DISEASES 3266 \| ERAS \| DISEASES 857 \| CAV1 \| DISEASES 2309 \| FOXO3 \| DISEASES 2261 \| FGFR3 \| DISEASES 1978 \| EIF4EBP1 \| DISEASES 4208 \| MEF2C \| DISEASES 5781 \| PTPN11 \| DISEASES 4089 \| SMAD4 \| DISEASES 859 \| CAV3 \| DISEASES 286380 \| FOXD4L3 \| DISEASES 79802 \| HHIPL2 \| DISEASES 3344 \| FOXN2 \| DISEASES 23405 \| DICER1 \| DISEASES 7273 \| TTN \| DISEASES 1499 \| CTNNB1 \| DISEASES 4205 \| MEF2A \| DISEASES 79971 \| WLS \| DISEASES 4635 \| MYL4 \| DISEASES 331 \| XIAP \| DISEASES 4624 \| MYH6 \| DISEASES 8736 \| MYOM1 \| DISEASES 4100 \| MAGEA1 \| DISEASES 4745 \| NELL1 \| DISEASES 60 \| ACTB \| DISEASES 6597 \| SMARCA4 \| DISEASES 5079 \| PAX5 \| DISEASES 26052 \| DNM3 \| DISEASES 2050 \| EPHB4 \| DISEASES 6714 \| SRC \| DISEASES 4763 \| NF1 \| DISEASES 1969 \| EPHA2 \| DISEASES 841 \| CASP8 \| DISEASES 6832 \| SUPV3L1 \| DISEASES 4151 \| MB \| DISEASES 171392 \| ZNF675 \| DISEASES 4192 \| MDK \| DISEASES 10447 \| FAM3C \| DISEASES 5869 \| RAB5B \| DISEASES 5599 \| MAPK8 \| DISEASES 4311 \| MME \| DISEASES 2107 \| ETF1 \| DISEASES 25937 \| WWTR1 \| DISEASES 6663 \| SOX10 \| DISEASES 4916 \| NTRK3 \| DISEASES 7150 \| TOP1 \| DISEASES 2475 \| MTOR \| DISEASES 2736 \| GLI2 \| DISEASES 7003 \| TEAD1 \| DISEASES 22887 \| FOXJ3 \| DISEASES 800 \| CALD1 \| DISEASES 1756 \| DMD \| DISEASES 729447 \| GAGE2A \| DISEASES 142 \| PARP1 \| DISEASES 80328 \| ULBP2 \| DISEASES 5788 \| PTPRC \| DISEASES 3645 \| INSRR \| DISEASES 10763 \| NES \| DISEASES 4170 \| MCL1 \| DISEASES 9531 \| BAG3 \| DISEASES 10973 \| ASCC3 \| DISEASES 1268 \| CNR1 \| DISEASES 4893 \| NRAS \| DISEASES 51684 \| SUFU \| DISEASES 26576 \| SRPK3 \| DISEASES 4102 \| MAGEA3 \| DISEASES 1647 \| GADD45A \| DISEASES 3725 \| JUN \| DISEASES 79656 \| BEND5 \| DISEASES 7422 \| VEGFA \| DISEASES 7075 \| TIE1 \| DISEASES 100132074 \| FOXO6 \| DISEASES 2021 \| ENDOG \| DISEASES 54579 \| UGT1A5 \| DISEASES 403341 \| ZBTB34 \| DISEASES 4303 \| FOXO4 \| DISEASES 10471 \| PFDN6 \| DISEASES 23446 \| SLC44A1 \| DISEASES 5081 \| PAX7 \| DISEASES 727837 \| SSX2B \| DISEASES 6839 \| SUV39H1 \| DISEASES 6756 \| SSX1 \| DISEASES 2262 \| GPC5 \| DISEASES 390992 \| HES3 \| DISEASES 4609 \| MYC \| DISEASES 54880 \| BCOR \| DISEASES 388585 \| HES5 \| DISEASES 2098 \| ESD \| DISEASES 84964 \| ALKBH6 \| DISEASES 190 \| NR0B1 \| DISEASES 5111 \| PCNA \| DISEASES 2308 \| FOXO1 \| DISEASES 4676 \| NAP1L4 \| DISEASES 7054 \| TH \| DISEASES 4267 \| CD99 \| DISEASES 2315 \| MLANA \| DISEASES 2574 \| GAGE2C \| DISEASES 645037 \| GAGE2B \| DISEASES 7260 \| TSSC1 \| DISEASES 2298 \| FOXD4 \| DISEASES 238 \| ALK \| DISEASES 22908 \| SACM1L \| DISEASES 53353 \| LRP1B \| DISEASES 1146 \| CHRNG \| DISEASES 5077 \| PAX3 \| DISEASES 12 \| SERPINA3 \| DISEASES 10018 \| BCL2L11 \| DISEASES 7021 \| TFAP2B \| DISEASES 55466 \| DNAJA4 \| DISEASES 2875 \| GPT \| DISEASES 174 \| AFP \| DISEASES 6387 \| CXCL12 \| DISEASES 2737 \| GLI3 \| DISEASES 8537 \| BCAS1 \| DISEASES 27023 \| FOXB1 \| DISEASES 2120 \| ETV6 \| DISEASES 4338 \| MOCS2 \| DISEASES 4703 \| NEB \| DISEASES 5609 \| MAP2K7 \| DISEASES 23028 \| KDM1A \| DISEASES 8091 \| HMGA2 \| DISEASES 6654 \| SOS1 \| DISEASES 26749 \| GAGE2E \| DISEASES 2115 \| ETV1 \| DISEASES 729408 \| GAGE2D \| DISEASES 7852 \| CXCR4 \| DISEASES 9938 \| ARHGAP25 \| DISEASES 65986 \| ZBTB10 \| DISEASES 3481 \| IGF2 \| DISEASES 6603 \| SMARCD2 \| DISEASES 57801 \| HES4 \| DISEASES 2260 \| FGFR1 \| DISEASES 150572 \| SMYD1 \| DISEASES 1029 \| CDKN2A \| DISEASES 86 \| ACTL6A \| DISEASES 56616 \| DIABLO \| DISEASES 3491 \| CYR61 \| DISEASES 10499 \| NCOA2 \| DISEASES 2130 \| EWSR1 \| DISEASES 25989 \| ULK3 \| DISEASES 80755 \| AARSD1 \| DISEASES 548596 \| CKMT1A \| DISEASES 196527 \| ANO6 \| DISEASES 1028 \| CDKN1C \| DISEASES 6760 \| SS18 \| DISEASES 8842 \| PROM1 \| DISEASES 9127 \| P2RX6 \| DISEASES 645073 \| GAGE12G \| DISEASES 4193 \| MDM2 \| DISEASES 347273 \| MURC \| DISEASES 55534 \| MAML3 \| DISEASES 54540 \| FAM193B \| DISEASES 56034 \| PDGFC \| DISEASES 1977 \| EIF4E \| DISEASES 139628 \| FOXR2 \| DISEASES 56144 \| PCDHA4 \| DISEASES 84667 \| HES7 \| DISEASES 4637 \| MYL6 \| DISEASES 4666 \| NACA \| DISEASES 100288687 \| DUX4 \| DISEASES 653545 \| DUX4L5 \| DISEASES 161436 \| EML5 \| DISEASES 567 \| B2M \| DISEASES 2297 \| FOXD1 \| DISEASES 283120 \| H19 \| DISEASES 10984 \| KCNQ1OT1 \| DISEASES 55384 \| MEG3 \| DISEASES 407975 \| MIR17HG \| DISEASES 196475 \| RMST \| DISEASES
Locus	(Waiting for update.)

Disease ID	178
Disease	rhabdomyosarcoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:31) HP:0002664 \| Neoplasia \| 13 HP:0009792 \| Teratoma \| 5 HP:0100242 \| Sarcoma \| 5 HP:0012254 \| Ewing's sarcoma \| 3 HP:0030448 \| Soft tissue sarcoma \| 2 HP:0030731 \| Carcinoma \| 2 HP:0030741 \| Teratoma of the mediastinum \| 1 HP:0010788 \| Testicular neoplasm \| 1 HP:0006775 \| Multiple myeloma \| 1 HP:0009725 \| Bladder neoplasm \| 1 HP:0006779 \| Alveolar rhabdomyosarcoma \| 1 HP:0002860 \| Squamous cell carcinoma \| 1 HP:0002835 \| Aspiration \| 1 HP:0003006 \| Neuroblastoma \| 1 HP:0010784 \| Uterine tumor \| 1 HP:0002669 \| Osteosarcoma \| 1 HP:0009733 \| Glioma \| 1 HP:0002885 \| Medulloblastoma \| 1 HP:0001909 \| Leukemia \| 1 HP:0009919 \| Retinoblastoma \| 1 HP:0100658 \| Bacterial infection of skin \| 1 HP:0010475 \| Cloacal exstrophy \| 1 HP:0100650 \| Vaginal neoplasm \| 1 HP:0100616 \| Testicular teratoma \| 1 HP:0000160 \| Small mouth \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0004756 \| Ventricular tachycardia \| 1 HP:0002861 \| Melanoma \| 1 HP:0002488 \| Acute leukemias \| 1 HP:0003473 \| Fatigable weakness \| 1 HP:0100768 \| Choriocarcinoma \| 1

Disease ID	178
Disease	rhabdomyosarcoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:20) C2681938 \| beckwith-wiedemann syndrome C2364133 \| infection C1963274 \| vasculitis C1264606 \| persistent infection C1261473 \| soft tissue sarcomas C0581384 \| chronic anemia C0334517 \| spermatocytic seminoma C0279665 \| ovarian mucinous cystadenocarcinoma C0220650 \| brain metastasis C0220650 \| brain metastases C0153690 \| bone metastasis C0153690 \| bone metastases C0153676 \| pulmonary metastasis C0029089 \| ophthalmoplegia C0023903 \| hepatoma C0020437 \| hypercalcemia C0018133 \| graft-versus-host disease C0013533 \| echovirus infection C0012739 \| disseminated intravascular coagulation C0008626 \| chromosomal abnormality
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0153690 \| bone metastases \| 1 C1261473 \| soft tissue sarcomas \| 1 C0220650 \| brain metastases \| 1

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

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913529	23821038	3845	KRAS	umls:C0035412	BeFree	By contrast, mylz2:KRAS(G12D) tumors more closely resembled mature skeletal muscle and were most similar to well-differentiated human rhabdomyosarcoma in terms of gene expression.	0.000814326	2013	KRAS	12	25245350	C	T,G,A
rs121913529	23705022	3845	KRAS	umls:C0035412	BeFree	We performed an overexpression screen of chromatin-modifying factors in a KRAS(G12D)-driven zebrafish model for RMS.	0.000814326	2013	KRAS	12	25245350	C	T,G,A
rs121913529	20805368	3845	KRAS	umls:C0035412	BeFree	Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma.	0.000814326	2010	KRAS	12	25245350	C	T,G,A
rs28934576	21484931	7157	TP53	umls:C0035412	BeFree	Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years.	0.011867498	2011	TP53	17	7673802	C	T,A

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

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:13)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0035412	bortezomib	D000069286	-	rhabdomyosarcoma	MESH:D012208	therapeutic	18342500
C0035412	cyclophosphamide	D003520	50-18-0	rhabdomyosarcoma	MESH:D012208	therapeutic	18989167
C0035412	decitabine	C014347	2353-33-5	rhabdomyosarcoma	MESH:D012208	therapeutic	19155313
C0035412	cisplatin	D002945	15663-27-1	rhabdomyosarcoma	MESH:D012208	therapeutic	15354722
C0035412	ifosfamide	D007069	3778-73-2	rhabdomyosarcoma	MESH:D012208	therapeutic	11846301
C0035412	melphalan	D008558	148-82-3	rhabdomyosarcoma	MESH:D012208	therapeutic	11846301
C0035412	mesna	D015080	19767-45-4	rhabdomyosarcoma	MESH:D012208	therapeutic	3114437
C0035412	methotrexate	D008727	1959/5/2	rhabdomyosarcoma	MESH:D012208	therapeutic	19821538
C0035412	mitoxantrone	D008942	65271-80-9	rhabdomyosarcoma	MESH:D012208	therapeutic	6684503
C0035412	tretinoin	D014212	302-79-4	rhabdomyosarcoma	MESH:D012208	therapeutic	15982179
C0035412	valproic acid	D014635	99-66-1	rhabdomyosarcoma	MESH:D012208	therapeutic	19155313
C0035412	vinblastine	D014747	865-21-4	rhabdomyosarcoma	MESH:D012208	therapeutic	15591910
C0035412	vincristine	D014750	-	rhabdomyosarcoma	MESH:D012208	therapeutic	11846301

FDA approved drug and dosage information(Total Drugs:1)
DiseaseID	Drug_name	active_ingredients	strength	Dosage Form/Route	Marketing Status	TE code	RLD	RS
MESH:D012208	velcade	bortezomib	3.5MG/VIAL	INJECTABLE;INTRAVENOUS, SUBCUTANEOUS	Prescription	None	Yes	Yes

FDA labeling changes(Total Drugs:1)
DiseaseID	Pediatric_Labeling_Date	Trade_Name	Generic_Name_or_Proper_Name	Indications Studied	Label Changes Summary	Product Labeling	BPCA(B)	PREA(P)	BPCA(B) and PREA(P)	Pediatric Rule (R)	Sponsor	Pediatric Exclusivity Granted Date	NNPS
MESH:D012208	09/14/2015	velcade	bortezomib	Relapsed Acute Lymphoblastic Leukemia (ALL) and Lymphoblastic Lymphoma (LL)	Effectiveness in pediatric patients with relapsed pre-B ALL has not been established. The activity and safety of Velcade in combination with intensive reinduction chemotherapy was evaluated in pediatric and young adult patients with lymphoid malignancies. There were 140 patients with ALL or LL enrolled and evaluated for safety. No new safety concerns were observed	Labeling	B	-	-	-	Millennium Pharmaceuticals, Inc.	-	FALSE

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