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	angiosarcoma

Disease ID	783
Disease	angiosarcoma
Definition	A rare malignant neoplasm characterized by rapidly proliferating, extensively infiltrating, anaplastic cells derived from blood vessels and lining irregular blood-filled or lumpy spaces. (Stedman, 25th ed)
Synonym	angiosarcoma (disorder) angiosarcomas haemangioendothelial sarcoma haemangioendothelioma, malignant haemangiosarcoma hemangioendothelial sarcoma hemangioendothelioma, malignant hemangioendothelioma, malignant (morphologic abnormality) hemangiosarcoma hemangiosarcoma (morphologic abnormality) hemangiosarcoma [disease/finding] hemangiosarcoma, malignant hemangiosarcomas malignant angioendothelioma malignant haemangioendothelioma malignant hemangioendothelioma
Orphanet	ORPHANET:263413
DOID	DOID:0001816
UMLS	C0018923
MeSH	D006394
SNOMED-CT	SNOMEDCT_US_2016_09_01:403977003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:48) C0024236 \| lymphedema \| 3 C0153676 \| pulmonary metastases \| 3 C1261473 \| sarcoma \| 3 C0039101 \| synovial sarcoma \| 2 C0153676 \| lung metastases \| 2 C0040034 \| thrombocytopenia \| 2 C0153676 \| lung metastasis \| 2 C0002871 \| anemia \| 2 C0012739 \| disseminated intravascular coagulation \| 2 C0018916 \| hemangioma \| 2 C0031039 \| pericardial effusion \| 2 C0007177 \| cardiac tamponade \| 2 C0153676 \| pulmonary metastasis \| 2 C0205696 \| anaplastic carcinoma \| 1 C0023890 \| cirrhosis \| 1 C0205788 \| epithelioid hemangioma \| 1 C0040137 \| thyroid nodule \| 1 C0751674 \| lymphangioleiomyomatosis \| 1 C0025202 \| melanoma \| 1 C0032326 \| pneumothorax \| 1 C0206667 \| adrenocortical adenoma \| 1 C0012739 \| consumptive coagulopathy \| 1 C1335152 \| ovarian angiosarcoma \| 1 C0039538 \| teratomas \| 1 C0153687 \| skin metastases \| 1 C0002878 \| hemolytic anemia \| 1 C0494165 \| hepatic metastases \| 1 C0022739 \| klippel-trenaunay-weber syndrome \| 1 C0029463 \| osteosarcoma \| 1 C0013595 \| eczema \| 1 C0023890 \| hepatic cirrhosis \| 1 C0019204 \| hepatocellular carcinoma \| 1 C0494165 \| liver metastases \| 1 C0023269 \| leiomyosarcoma \| 1 C0023269 \| leiomyosarcomas \| 1 C0008479 \| chondrosarcoma \| 1 C0553580 \| ewing sarcoma \| 1 C0017205 \| gaucher disease \| 1 C0494165 \| hepatic metastasis \| 1 C0265965 \| dyskeratosis congenita \| 1 C0006142 \| breast cancer \| 1 C0027830 \| neurofibroma \| 1 C0040053 \| thrombosis \| 1 C1261473 \| sarcomas \| 1 C0677607 \| hashimoto thyroiditis \| 1 C0085113 \| neurofibromatosis \| 1 C1704423 \| congenital lymphedema \| 1 C0027809 \| schwannoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:18) 595 \| CCND1 \| CTD_human 1440 \| CSF3 \| CTD_human 80781 \| COL18A1 \| CTD_human 7422 \| VEGFA \| CTD_human 3845 \| KRAS \| CTD_human 4609 \| MYC \| CTD_human 7157 \| TP53 \| CTD_human 3725 \| JUN \| CTD_human 3265 \| HRAS \| CTD_human 5335 \| PLCG1 \| CTD_human 1499 \| CTNNB1 \| CTD_human 5787 \| PTPRB \| CTD_human 3791 \| KDR \| CTD_human 285 \| ANGPT2 \| CTD_human 7424 \| VEGFC \| CTD_human 2321 \| FLT1 \| CTD_human 7010 \| TEK \| CTD_human 2701 \| GJA4 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:76) 174 \| AFP \| 1.505 \| DISEASES 238 \| ALK \| 1.615 \| DISEASES 284 \| ANGPT1 \| 1.399 \| DISEASES 51378 \| ANGPT4 \| 1.709 \| DISEASES 27063 \| ANKRD1 \| 1.346 \| DISEASES 55107 \| ANO1 \| 1.199 \| DISEASES 51074 \| APIP \| 2.133 \| DISEASES 546 \| ATRX \| 1.504 \| DISEASES 800 \| CALD1 \| 1.009 \| DISEASES 9332 \| CD163 \| 1.826 \| DISEASES 1003 \| CDH5 \| 1.377 \| DISEASES 1029 \| CDKN2A \| 1.283 \| DISEASES 387119 \| CEP85L \| 2.43 \| DISEASES 7122 \| CLDN5 \| 2.383 \| DISEASES 387836 \| CLEC2A \| 1.574 \| DISEASES 1380 \| CR2 \| 1.904 \| DISEASES 64764 \| CREB3L2 \| 3.674 \| DISEASES 1978 \| EIF4EBP1 \| 1.202 \| DISEASES 2022 \| ENG \| 2.594 \| DISEASES 54206 \| ERRFI1 \| 1.626 \| DISEASES 2130 \| EWSR1 \| 1.436 \| DISEASES 2152 \| F3 \| 1.269 \| DISEASES 2155 \| F7 \| 1.751 \| DISEASES 2157 \| F8 \| 4.224 \| DISEASES 257415 \| FAM133B \| 2.869 \| DISEASES 4303 \| FOXO4 \| 2.866 \| DISEASES 6624 \| FSCN1 \| 1.516 \| DISEASES 23193 \| GANAB \| 1.32 \| DISEASES 57165 \| GJC2 \| 1.02 \| DISEASES 3039 \| HBA1 \| 6.635 \| DISEASES 3875 \| KRT18 \| 1.962 \| DISEASES 3880 \| KRT19 \| 1.613 \| DISEASES 3855 \| KRT7 \| 2.625 \| DISEASES 3897 \| L1CAM \| 3.987 \| DISEASES 342900 \| LEUTX \| 3.083 \| DISEASES 121227 \| LRIG3 \| 1.824 \| DISEASES 5609 \| MAP2K7 \| 1.094 \| DISEASES 4151 \| MB \| 1.902 \| DISEASES 4193 \| MDM2 \| 1.687 \| DISEASES 196410 \| METTL7B \| 1.453 \| DISEASES 2315 \| MLANA \| 2.581 \| DISEASES 4311 \| MME \| 1.059 \| DISEASES 2475 \| MTOR \| 1.602 \| DISEASES 4609 \| MYC \| 3.256 \| DISEASES 10763 \| NES \| 1.004 \| DISEASES 378884 \| NHLRC1 \| 1.564 \| DISEASES 23279 \| NUP160 \| 2.949 \| DISEASES 5429 \| POLH \| 1.027 \| DISEASES 25913 \| POT1 \| 1.706 \| DISEASES 8842 \| PROM1 \| 1.296 \| DISEASES 5728 \| PTEN \| 1.249 \| DISEASES 5787 \| PTPRB \| 2.216 \| DISEASES 5788 \| PTPRC \| 2.804 \| DISEASES 135250 \| RAET1E \| 1.085 \| DISEASES 5979 \| RET \| 1.115 \| DISEASES 6098 \| ROS1 \| 2.089 \| DISEASES 5265 \| SERPINA1 \| 1.309 \| DISEASES 12 \| SERPINA3 \| 1.155 \| DISEASES 6461 \| SHB \| 1.335 \| DISEASES 6497 \| SKI \| 1.895 \| DISEASES 6513 \| SLC2A1 \| 1.068 \| DISEASES 10568 \| SLC34A2 \| 1.057 \| DISEASES 29015 \| SLC43A3 \| 3.039 \| DISEASES 23583 \| SMUG1 \| 3.317 \| DISEASES 9623 \| TCL1B \| 1.825 \| DISEASES 7010 \| TEK \| 2.424 \| DISEASES 7056 \| THBD \| 1.525 \| DISEASES 7075 \| TIE1 \| 2.632 \| DISEASES 7090 \| TLE3 \| 1.659 \| DISEASES 54664 \| TMEM106B \| 1.126 \| DISEASES 126282 \| TNFAIP8L1 \| 2.293 \| DISEASES 7164 \| TPD52L1 \| 1.973 \| DISEASES 7422 \| VEGFA \| 3.183 \| DISEASES 7490 \| WT1 \| 2.363 \| DISEASES 25937 \| WWTR1 \| 3.042 \| DISEASES 100128252 \| ZNF667-AS1 \| 1.195 \| DISEASES
Locus	(Waiting for update.)

Disease ID	783
Disease	angiosarcoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:49) HP:0002664 \| Neoplasia \| 10 HP:0001004 \| Lymphatic obstruction \| 4 HP:0100242 \| Sarcoma \| 3 HP:0002027 \| Abdominal pain \| 3 HP:0012531 \| Pain \| 2 HP:0001028 \| Strawberry mark \| 2 HP:0012570 \| Synovial sarcoma \| 2 HP:0002239 \| Gastrointestinal hemorrhage \| 2 HP:0003256 \| Coagulopathy \| 2 HP:0030731 \| Carcinoma \| 2 HP:0005521 \| Disseminated intravascular coagulation \| 2 HP:0001873 \| Low platelet count \| 2 HP:0002584 \| Intestinal hemorrhage \| 2 HP:0001698 \| Pericardial effusions \| 2 HP:0001903 \| Anemia \| 2 HP:0002625 \| Blood clot in a deep vein \| 1 HP:0002107 \| Collapsed lung \| 1 HP:0100243 \| Leiomyosarcoma \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0006765 \| Chondrosarcoma \| 1 HP:0004947 \| Arteriovenous fistula \| 1 HP:0001289 \| Confusion \| 1 HP:0012254 \| Ewing's sarcoma \| 1 HP:0001402 \| Hepatocellular carcinoma \| 1 HP:0002240 \| Enlarged liver \| 1 HP:0003002 \| Breast carcinoma \| 1 HP:0100723 \| Gastrointestinal stroma tumor \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0002669 \| Osteosarcoma \| 1 HP:0002835 \| Aspiration \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0001974 \| Leukocytosis \| 1 HP:0010783 \| Erythema \| 1 HP:0003764 \| Naevus \| 1 HP:0100008 \| Schwann cell tumour \| 1 HP:0008256 \| Adrenocortical adenomas \| 1 HP:0004936 \| Blood clot in vein \| 1 HP:0002202 \| Pleural effusion \| 1 HP:0000790 \| Hematuria \| 1 HP:0011854 \| Hemoperitoneum \| 1 HP:0002860 \| Squamous cell carcinoma \| 1 HP:0100820 \| Glomerulopathy \| 1 HP:0001399 \| Liver failure \| 1 HP:0001394 \| Hepatic cirrhosis \| 1 HP:0000872 \| Hashimoto's thyroiditis \| 1 HP:0009726 \| Renal neoplasm \| 1 HP:0002861 \| Melanoma \| 1 HP:0002105 \| Hemoptysis \| 1 HP:0000964 \| Eczema \| 1

Disease ID	783
Disease	angiosarcoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:13) C1519670 \| tumor angiogenesis C1261473 \| malignant mesenchymal tumour C0740401 \| perforation of duodenal ulcer C0282607 \| vascular tumors C0263367 \| koebner phenomenon C0238246 \| hemangioma of the liver C0221025 \| kasabach-merritt syndrome C0153676 \| pulmonary metastasis C0153676 \| pulmonary metastases C0040053 \| thrombosis C0040034 \| thrombocytopenia C0027030 \| myiasis C0007177 \| cardiac tamponade
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:6) C0153676 \| pulmonary metastases \| 3 C0221025 \| kasabach-merritt syndrome \| 2 C0040034 \| thrombocytopenia \| 2 C0153676 \| pulmonary metastasis \| 2 C0007177 \| cardiac tamponade \| 2 C0040053 \| thrombosis \| 1

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
rs1764391	20705954	2701	GJA4	umls:C0018923	BeFree	A polymorphism in the human connexin37 (Cx37) gene (C1019T), resulting in a non-conservative amino acid change in the regulatory C-terminus (CT) of the Cx37 protein (P319S) has been suggested to be implicated in predisposition to angiosarcomas.	0.120542884	2010	GJA4;LOC105378643	1	34795168	C	T
rs56302315	25679062	3791	KDR	umls:C0018923	BeFree	Likewise, activating mutations in the receptor tyrosine kinase KDR (VEGFR2) have been reported in angiosarcomas and non-small cell lung cancers; the KDR A1065T mutation is reported to be sensitive to VEGFR kinase inhibitors, and fibroblast growth factor receptor inhibitors are in trials.	0.121085767	2015	KDR	4	55089802	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	783
Disease	angiosarcoma
Case	(Waiting for update.)

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