eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	ewing sarcoma

Disease ID	437
Disease	ewing sarcoma
Definition	malignant tumor of bones which always arises in medullary tissue, occurring more often in cylindrical bones, with pain, fever, and leukocytosis.
Synonym	ewing tumor ewing's family of tumors ewing's sarcoma ewing's sarcoma (morphologic abnormality) ewing's tumor ewing's tumors ewing's tumour ewings sarcoma ewings tumor ewings tumors ewings's sarcoma sarcoma ewing sarcoma ewing's sarcoma ewings sarcoma, ewing sarcoma, ewing [disease/finding] sarcoma, ewing's sarcoma, ewings tumor, ewing tumor, ewing's
Orphanet	ORPHANET:319
OMIM	OMIM:612219
DOID	DOID:3369
UMLS	C0553580
MeSH	D012512
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:23) C1261473 \| sarcoma \| 9 C0279980 \| extraskeletal ewing's sarcoma \| 4 C0029463 \| osteosarcoma \| 3 C0027708 \| wilms' tumor \| 2 C0392548 \| cauda equina syndrome \| 1 C0034065 \| pulmonary embolism \| 1 C0023418 \| leukemia \| 1 C0020598 \| hypoglycaemia \| 1 C0751878 \| cns vasculitis \| 1 C1261473 \| sarcomas \| 1 C0155773 \| portal vein thrombosis \| 1 C0278586 \| metastatic ewing's sarcoma \| 1 C0080032 \| malignant pleural effusion \| 1 C0023470 \| myeloid leukemia \| 1 C0023467 \| acute myeloid leukemia \| 1 C0035412 \| rhabdomyosarcoma \| 1 C0494165 \| hepatic metastases \| 1 C0027819 \| neuroblastoma \| 1 C0008479 \| chondrosarcoma \| 1 C1704327 \| bone sarcoma \| 1 C0279530 \| bone cancer \| 1 C1334699 \| mesenchymal tumor \| 1 C1704327 \| bone sarcomas \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:12) 1959 \| EGR2 \| CTD_human;GWASCAT 2313 \| FLI1 \| CTD_human;GHR;UNIPROT;ORPHANET 390996 \| CFL1P6 \| GWASCAT 8013 \| NR4A3 \| UNIPROT 2078 \| ERG \| GHR;UNIPROT;ORPHANET 2521 \| FUS \| GHR 25792 \| CIZ1 \| CTD_human 2130 \| EWSR1 \| CTD_human;GHR;UNIPROT;ORPHANET 54738 \| FEV \| GHR 100131089 \| SRP14-AS1 \| GWASCAT 2115 \| ETV1 \| GHR;UNIPROT;ORPHANET 2118 \| ETV4 \| ORPHANET;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) 2313 \| FLI1 \| CIPHER;CTD_human 148345 \| C1orf127 \| CIPHER 1959 \| EGR2 \| CIPHER;CTD_human 6727 \| SRP14 \| CIPHER 2130 \| EWSR1 \| CTD_human 25792 \| CIZ1 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:146) 3983 \| ABLIM1 \| 1.956 \| DISEASES 10142 \| AKAP9 \| 1.895 \| DISEASES 84335 \| AKT1S1 \| 1.613 \| DISEASES 238 \| ALK \| 1.911 \| DISEASES 91074 \| ANKRD30A \| 1.51 \| DISEASES 80830 \| APOL6 \| 1.112 \| DISEASES 9212 \| AURKB \| 1.386 \| DISEASES 8938 \| BAIAP3 \| 2.093 \| DISEASES 54880 \| BCOR \| 4.243 \| DISEASES 648 \| BMI1 \| 1.985 \| DISEASES 797 \| CALCB \| 1.421 \| DISEASES 857 \| CAV1 \| 1.649 \| DISEASES 9973 \| CCS \| 1.345 \| DISEASES 4267 \| CD99 \| 6.028 \| DISEASES 1029 \| CDKN2A \| 2.379 \| DISEASES 1385 \| CREB1 \| 1.152 \| DISEASES 90993 \| CREB3L1 \| 1.395 \| DISEASES 64764 \| CREB3L2 \| 2.033 \| DISEASES 7812 \| CSDE1 \| 1.951 \| DISEASES 1499 \| CTNNB1 \| 1.253 \| DISEASES 6387 \| CXCL12 \| 1.07 \| DISEASES 7852 \| CXCR4 \| 1.545 \| DISEASES 1649 \| DDIT3 \| 1.321 \| DISEASES 10521 \| DDX17 \| 1.138 \| DISEASES 1654 \| DDX3X \| 1.686 \| DISEASES 1660 \| DHX9 \| 2.626 \| DISEASES 1763 \| DNA2 \| 1.092 \| DISEASES 55466 \| DNAJA4 \| 2.021 \| DISEASES 1791 \| DNTT \| 1.837 \| DISEASES 29102 \| DROSHA \| 1.21 \| DISEASES 51514 \| DTL \| 2.583 \| DISEASES 100288687 \| DUX4 \| 4.716 \| DISEASES 653545 \| DUX4L5 \| 4.716 \| DISEASES 1855 \| DVL1 \| 2.041 \| DISEASES 55268 \| ECHDC2 \| 2.854 \| DISEASES 2022 \| ENG \| 1.141 \| DISEASES 3266 \| ERAS \| 1.107 \| DISEASES 2066 \| ERBB4 \| 1.461 \| DISEASES 2113 \| ETS1 \| 3.074 \| DISEASES 2114 \| ETS2 \| 1.713 \| DISEASES 2115 \| ETV1 \| 3.72 \| DISEASES 2118 \| ETV4 \| 3.967 \| DISEASES 2120 \| ETV6 \| 1.503 \| DISEASES 283673 \| EWSAT1 \| 4.288 \| DISEASES 2130 \| EWSR1 \| 8.218 \| DISEASES 2140 \| EYA3 \| 2.392 \| DISEASES 7430 \| EZR \| 1.169 \| DISEASES 55120 \| FANCL \| 2.004 \| DISEASES 2313 \| FLI1 \| 3.95 \| DISEASES 2314 \| FLII \| 5.323 \| DISEASES 2308 \| FOXO1 \| 2.92 \| DISEASES 4303 \| FOXO4 \| 2.044 \| DISEASES 139628 \| FOXR2 \| 1.79 \| DISEASES 2687 \| GGT5 \| 1.566 \| DISEASES 2737 \| GLI3 \| 1.217 \| DISEASES 29889 \| GNL2 \| 2.059 \| DISEASES 2948 \| GSTM4 \| 1.675 \| DISEASES 3190 \| HNRNPK \| 1.386 \| DISEASES 4670 \| HNRNPM \| 1.542 \| DISEASES 3239 \| HOXD13 \| 1.924 \| DISEASES 3320 \| HSP90AA1 \| 1.095 \| DISEASES 3481 \| IGF2 \| 1.352 \| DISEASES 3486 \| IGFBP3 \| 1.51 \| DISEASES 3543 \| IGLL1 \| 1.387 \| DISEASES 9118 \| INA \| 1.047 \| DISEASES 3645 \| INSRR \| 1.549 \| DISEASES 81033 \| KCNH6 \| 1.511 \| DISEASES 23028 \| KDM1A \| 1.645 \| DISEASES 55818 \| KDM3A \| 2.03 \| DISEASES 9856 \| KIAA0319 \| 1.167 \| DISEASES 57648 \| KIAA1522 \| 2.676 \| DISEASES 10112 \| KIF20A \| 1.298 \| DISEASES 149998 \| LIPI \| 1.955 \| DISEASES 131578 \| LRRC15 \| 1.422 \| DISEASES 4097 \| MAFG \| 1.006 \| DISEASES 6885 \| MAP3K7 \| 1.203 \| DISEASES 4170 \| MCL1 \| 1.119 \| DISEASES 4193 \| MDM2 \| 2.087 \| DISEASES 4194 \| MDM4 \| 1.181 \| DISEASES 23195 \| MDN1 \| 2.406 \| DISEASES 4291 \| MLF1 \| 1.056 \| DISEASES 2475 \| MTOR \| 2.224 \| DISEASES 4609 \| MYC \| 1.96 \| DISEASES 10763 \| NES \| 1.935 \| DISEASES 4773 \| NFATC2 \| 2.748 \| DISEASES 4798 \| NFRKB \| 2.091 \| DISEASES 4821 \| NKX2-2 \| 3.811 \| DISEASES 190 \| NR0B1 \| 2.367 \| DISEASES 22854 \| NTNG1 \| 1.692 \| DISEASES 84628 \| NTNG2 \| 1.586 \| DISEASES 4916 \| NTRK3 \| 1.408 \| DISEASES 8473 \| OGT \| 1.488 \| DISEASES 142 \| PARP1 \| 2.443 \| DISEASES 5077 \| PAX3 \| 3.027 \| DISEASES 5081 \| PAX7 \| 2.655 \| DISEASES 7849 \| PAX8 \| 1.496 \| DISEASES 5155 \| PDGFB \| 2.113 \| DISEASES 51131 \| PHF11 \| 1.309 \| DISEASES 3276 \| PRMT1 \| 1.733 \| DISEASES 10196 \| PRMT3 \| 1.726 \| DISEASES 56341 \| PRMT8 \| 2.997 \| DISEASES 8842 \| PROM1 \| 1.094 \| DISEASES 5783 \| PTPN13 \| 1.651 \| DISEASES 5788 \| PTPRC \| 2.763 \| DISEASES 9770 \| RASSF2 \| 2.111 \| DISEASES 6007 \| RHD \| 1.644 \| DISEASES 6045 \| RNF2 \| 1.008 \| DISEASES 80196 \| RNF34 \| 1.141 \| DISEASES 860 \| RUNX2 \| 1.063 \| DISEASES 53637 \| S1PR5 \| 1.041 \| DISEASES 6297 \| SALL2 \| 1.347 \| DISEASES 6421 \| SFPQ \| 1.185 \| DISEASES 117157 \| SH2D1B \| 1.358 \| DISEASES 114836 \| SLAMF6 \| 1.116 \| DISEASES 9058 \| SLC13A2 \| 1.319 \| DISEASES 284111 \| SLC13A5 \| 1.325 \| DISEASES 51312 \| SLC25A37 \| 1.465 \| DISEASES 23583 \| SMUG1 \| 3.062 \| DISEASES 6693 \| SPN \| 1.763 \| DISEASES 10252 \| SPRY1 \| 1.512 \| DISEASES 6760 \| SS18 \| 2.866 \| DISEASES 6756 \| SSX1 \| 1.792 \| DISEASES 727837 \| SSX2B \| 3.125 \| DISEASES 55240 \| STEAP3 \| 1.321 \| DISEASES 8428 \| STK24 \| 1.455 \| DISEASES 11171 \| STRAP \| 2.553 \| DISEASES 8148 \| TAF15 \| 2.63 \| DISEASES 7010 \| TEK \| 1.382 \| DISEASES 7088 \| TLE1 \| 2.549 \| DISEASES 8995 \| TNFSF18 \| 1.043 \| DISEASES 3842 \| TNPO1 \| 1.301 \| DISEASES 7150 \| TOP1 \| 1.176 \| DISEASES 127262 \| TPRG1L \| 1.165 \| DISEASES 26146 \| TRAF3IP1 \| 2.451 \| DISEASES 7706 \| TRIM25 \| 1.691 \| DISEASES 7102 \| TSPAN7 \| 1.119 \| DISEASES 51377 \| UCHL5 \| 1.149 \| DISEASES 285175 \| UNC80 \| 2.015 \| DISEASES 7422 \| VEGFA \| 1.299 \| DISEASES 5212 \| VIT \| 1.713 \| DISEASES 7481 \| WNT11 \| 2.285 \| DISEASES 7490 \| WT1 \| 4.617 \| DISEASES 9203 \| ZMYM3 \| 1.586 \| DISEASES 7594 \| ZNF43 \| 3.007 \| DISEASES 148198 \| ZNF98 \| 3.414 \| DISEASES 7791 \| ZYX \| 1.861 \| DISEASES
Locus	Symbol \| Locus(Total Locus:5) ETV4 \| 17q21.31 EWSR1 \| 22q12.2 FLI1 \| 11q24.3 ERG \| 21q22.2 ETV1 \| 7p21.2

Disease ID	437
Disease	ewing sarcoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:27) HP:0002664 \| Neoplasia \| 21 HP:0100242 \| Sarcoma \| 10 HP:0002669 \| Osteosarcoma \| 4 HP:0012531 \| Pain \| 2 HP:0006765 \| Chondrosarcoma \| 1 HP:0002357 \| Dysphasia \| 1 HP:0001050 \| Plethora \| 1 HP:0002835 \| Aspiration \| 1 HP:0002859 \| Rhabdomyosarcoma \| 1 HP:0002204 \| Pulmonary embolism \| 1 HP:0002202 \| Pleural effusion \| 1 HP:0001369 \| Arthritis \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0007340 \| Lower limb weakness \| 1 HP:0001909 \| Leukemia \| 1 HP:0003418 \| Back pain \| 1 HP:0012324 \| Myeloid leukemia \| 1 HP:0010550 \| Paraplegia \| 1 HP:0030061 \| Neuroectodermal neoplasm \| 1 HP:0003419 \| Low back pain \| 1 HP:0001943 \| Hypoglycemia \| 1 HP:0030731 \| Carcinoma \| 1 HP:0030242 \| Blood clot in portal vein \| 1 HP:0003006 \| Neuroblastoma \| 1 HP:0001362 \| Cranial defect \| 1 HP:0003690 \| Limb weakness \| 1 HP:0004808 \| Acute myelogenous leukemia \| 1

Disease ID	437
Disease	ewing sarcoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:7) C1868745 \| numb chin syndrome C1608408 \| malignant transformation C0346993 \| breast metastases C0272362 \| acquired von willebrand syndrome C0153676 \| pulmonary metastasis C0027341 \| nail-patella syndrome C0019294 \| inguinal hernia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C1608408 \| malignant transformation \| 1

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

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

All Snps(Total Genotypes:6)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs224278	22327514	1959	EGR2	umls:C0553580	GWASCAT	Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.	0.242909916	2012	EGR2	10	62820815	C	T
rs224278	22327514	1959	EGR2	umls:C0553580	GAD	[Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.]	0.242909916	2012	EGR2	10	62820815	C	T
rs4924410	22327514	6727	SRP14	umls:C0553580	GAD	[Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.]	0.002367032	2012	SRP14-AS1	15	40047293	A	C
rs4924410	22327514	100131089	SRP14-AS1	umls:C0553580	GWASCAT	Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.	0.12	2012	SRP14-AS1	15	40047293	A	C
rs9430161	22327514	390996	CFL1P6	umls:C0553580	GWASCAT	Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.	0.12	2012	NA	1	10986798	G	T
rs9430161	22327514	148345	C1orf127	umls:C0553580	GAD	[Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.]	0.002367032	2012	NA	1	10986798	G	T

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.)

Disease ID	437
Disease	ewing sarcoma
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter