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	yolk sac tumor

Disease ID	1400
Disease	yolk sac tumor
Definition	An unusual and aggressive tumor of germ-cell origin that reproduces the extraembryonic structures of the early embryo. It is the most common malignant germ cell tumor found in children. It is characterized by a labyrinthine glandular pattern of flat epithelial cells and rounded papillary processes with a central capillary (Schiller-Duval body). The tumor is rarely bilateral. Before the use of combination chemotherapy, the tumor was almost invariably fatal. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1189)
Synonym	embryonal carcinoma, infantile endodermal sinus neoplasm endodermal sinus tumor endodermal sinus tumor (morphologic abnormality) endodermal sinus tumor [disease/finding] endodermal sinus tumors endodermal sinus tumour hepatoid yolk sac tumor hepatoid yolk sac tumour infantile embryonal carcinoma orchioblastoma polyvesicular vitelline tumor polyvesicular vitelline tumour tumor, endodermal sinus tumor, yolk sac tumors, endodermal sinus tumors, yolk sac yolk sac neoplasm yolk sac tumor (disorder) yolk sac tumor site unspecified yolk sac tumor, malignant yolk sac tumors yolk sac tumour yolk sac tumour site unspecified
Orphanet	ORPHANET:876
DOID	DOID:1911
UMLS	C0014145
MeSH	D018240
SNOMED-CT	SNOMEDCT_US_2016_09_01:404081005
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:30) C0014145 \| endodermal sinus tumor \| 6 C0001418 \| adenocarcinoma \| 4 C0039538 \| teratoma \| 2 C0153676 \| lung metastasis \| 2 C0024291 \| hemophagocytic syndrome \| 1 C1518716 \| ovarian gonadoblastoma \| 1 C0494165 \| liver metastases \| 1 C0036631 \| seminomas \| 1 C0476089 \| endometrial carcinoma \| 1 C0699791 \| gastric carcinoma \| 1 C0206667 \| adrenal cortical adenoma \| 1 C1153706 \| endometrial adenocarcinoma \| 1 C0278701 \| gastric adenocarcinoma \| 1 C1140680 \| ovarian cancer \| 1 C0677886 \| epithelial ovarian cancer \| 1 C0040053 \| thrombus \| 1 C0021843 \| intestinal obstruction \| 1 C0001430 \| adenoma \| 1 C0175713 \| aicardi syndrome \| 1 C0206661 \| gonadoblastoma \| 1 C0879615 \| stromal tumor \| 1 C0016057 \| fibrosarcoma \| 1 C0153676 \| pulmonary metastasis \| 1 C1140680 \| ovarian ca \| 1 C0677886 \| carcinoma of the ovary \| 1 C1368910 \| mature teratoma \| 1 C0476089 \| endometrial ca \| 1 C0024623 \| gastric cancer \| 1 C0206659 \| embryonal carcinoma \| 1 C0494165 \| hepatic metastasis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:53) 174 \| AFP \| 7.21 \| DISEASES 55107 \| ANO1 \| 1.649 \| DISEASES 196527 \| ANO6 \| 1.611 \| DISEASES 9212 \| AURKB \| 2.405 \| DISEASES 554 \| AVPR2 \| 1.185 \| DISEASES 6370 \| CCL25 \| 1.581 \| DISEASES 1045 \| CDX2 \| 3.259 \| DISEASES 94027 \| CGB7 \| 1.484 \| DISEASES 94115 \| CGB8 \| 1.388 \| DISEASES 548596 \| CKMT1A \| 1.39 \| DISEASES 1443 \| CSH2 \| 3.028 \| DISEASES 1761 \| DMRT1 \| 1.695 \| DISEASES 359787 \| DPPA3 \| 2.251 \| DISEASES 1832 \| DSP \| 1.007 \| DISEASES 2100 \| ESR2 \| 1.427 \| DISEASES 2170 \| FABP3 \| 1.361 \| DISEASES 668 \| FOXL2 \| 1.589 \| DISEASES 2526 \| FUT4 \| 1.34 \| DISEASES 5348 \| FXYD1 \| 1.029 \| DISEASES 9573 \| GDF3 \| 1.71 \| DISEASES 2674 \| GFRA1 \| 1.189 \| DISEASES 2719 \| GPC3 \| 4.735 \| DISEASES 2938 \| GSTA1 \| 1.094 \| DISEASES 3142 \| HLX \| 1.909 \| DISEASES 8091 \| HMGA2 \| 1.003 \| DISEASES 3855 \| KRT7 \| 2.955 \| DISEASES 3939 \| LDHA \| 1.553 \| DISEASES 7044 \| LEFTY2 \| 1.783 \| DISEASES 4311 \| MME \| 1.404 \| DISEASES 4496 \| MT1H \| 1.977 \| DISEASES 4585 \| MUC4 \| 1.458 \| DISEASES 4751 \| NEK2 \| 2.288 \| DISEASES 2516 \| NR5A1 \| 2.155 \| DISEASES 7849 \| PAX8 \| 2.257 \| DISEASES 5099 \| PCDH7 \| 2.235 \| DISEASES 55124 \| PIWIL2 \| 1.421 \| DISEASES 5802 \| PTPRS \| 1.931 \| DISEASES 221002 \| RASGEF1A \| 2.752 \| DISEASES 5265 \| SERPINA1 \| 3.544 \| DISEASES 9058 \| SLC13A2 \| 1.381 \| DISEASES 284111 \| SLC13A5 \| 1.387 \| DISEASES 6664 \| SOX11 \| 1.146 \| DISEASES 6657 \| SOX2 \| 2.274 \| DISEASES 6736 \| SRY \| 1.393 \| DISEASES 10494 \| STK25 \| 2.075 \| DISEASES 23224 \| SYNE2 \| 1.291 \| DISEASES 732253 \| TDRG1 \| 3.159 \| DISEASES 7018 \| TF \| 2.03 \| DISEASES 7258 \| TSPY1 \| 2.251 \| DISEASES 100289087 \| TSPY10 \| 2.287 \| DISEASES 7259 \| TSPYL1 \| 2.665 \| DISEASES 7490 \| WT1 \| 1.826 \| DISEASES 7704 \| ZBTB16 \| 1.903 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1400
Disease	yolk sac tumor
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:13) HP:0002664 \| Neoplasia \| 8 HP:0030731 \| Carcinoma \| 4 HP:0009792 \| Teratoma \| 2 HP:0012126 \| Gastric cancer \| 1 HP:0100621 \| Dysgerminoma \| 1 HP:0000150 \| Gonadoblastoma \| 1 HP:0005214 \| Bowel obstruction \| 1 HP:0000149 \| Ovarian gonadoblastoma \| 1 HP:0010788 \| Testicular neoplasm \| 1 HP:0006735 \| Kidney cortical adenoma \| 1 HP:0012114 \| Endometrial carcinoma \| 1 HP:0006254 \| Increased serum alpha-fetoprotein \| 1 HP:0100244 \| Fibrosarcoma \| 1

Disease ID	1400
Disease	yolk sac tumor
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0220650 \| brain metastasis
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894972	10852465	6736	SRY	umls:C0014145	BeFree	Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.	0.000271442	2000	SRY	Y	2787320	C	T
rs104894972	10852465	6749	SSRP1	umls:C0014145	BeFree	Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.	0.000271442	2000	SRY	Y	2787320	C	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	1400
Disease	yolk sac tumor
Case	(Waiting for update.)

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