PedAM

Pediatric Disease Annotations & Medicines


	extraskeletal ewing sarcoma

Disease ID	1000
Disease	extraskeletal ewing sarcoma
Definition	A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy.
Synonym	eoe extra-osseous ewing's sarcoma extraosseous ewing sarcoma extraosseous ewing tumor (eoe) extraosseous ewing's sarcoma extraosseous ewing's sarcoma/primitive neuroectodermal tumor extraosseous ewing's tumor extraosseous ewings sarcoma-primitive neuroepithelial tumor extraskeletal ewing's sarcoma sarcoma, extraosseous ewing's
Orphanet	ORPHANET:370334
DOID	DOID:4985 DOID:4232
UMLS	C0279980
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0585474 \| ewing sarcoma of bone \| 1 C0553580 \| ewing sarcoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) EWSR1 \| 2130 \| ORPHANET FLI1 \| 2313 \| ORPHANET ERG \| 2078 \| ORPHANET SMARCA5 \| 8467 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:18) 4618 \| MYF6 \| DISEASES 4617 \| MYF5 \| DISEASES 2026 \| ENO2 \| DISEASES 4656 \| MYOG \| DISEASES 4654 \| MYOD1 \| DISEASES 57498 \| KIDINS220 \| DISEASES 4613 \| MYCN \| DISEASES 201161 \| CENPV \| DISEASES 27087 \| B3GAT1 \| DISEASES 10102 \| TSFM \| DISEASES 23512 \| SUZ12 \| DISEASES 2146 \| EZH2 \| DISEASES 2118 \| ETV4 \| DISEASES 682 \| BSG \| DISEASES 3043 \| HBB \| DISEASES 4267 \| CD99 \| DISEASES 55120 \| FANCL \| DISEASES 2130 \| EWSR1 \| DISEASES
Locus	Symbol \| Locus(Total Locus:4) EWSR1 \| 22q12.2 SMARCA5 \| 4q31.21 FLI1 \| 11q24.3 ERG \| 21q22.2

Disease ID	1000
Disease	extraskeletal ewing sarcoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0012254 \| Ewing's sarcoma \| 1

Disease ID	1000
Disease	extraskeletal ewing sarcoma
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs293795	22389292	4968	OGG1	umls:C0279980	BeFree	However, after correcting for multiple comparisons, only the interaction between high trichloroethylene levels and OGG1 rs293795 significantly increased the risk of childhood M/PNET risk (OR = 9.24, 95% CI: 2.24, 38.24, Q = 0.04).	0.000271442	2012	OGG1;CAMK1	3	9757429	A	G

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:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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