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	leiomyosarcoma

Disease ID	323
Disease	leiomyosarcoma
Definition	A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865)
Synonym	[m]leiomyosarcoma nos [m]leiomyosarcoma nos (morphologic abnormality) leiomyomosarcoma, no subtype (morphologic abnormality) leiomyosarcoma (disorder) leiomyosarcoma (excluding uterine leiomyosarcoma) leiomyosarcoma - not uterine leiomyosarcoma [disease/finding] leiomyosarcoma, malignant leiomyosarcoma, no subtype leiomyosarcoma, no subtype (morphologic abnormality) leiomyosarcoma, nos leiomyosarcomas lms - leiomyosarcoma
Orphanet	ORPHANET:64720
DOID	DOID:1967
UMLS	C0023269
MeSH	D007890
SNOMED-CT	SNOMEDCT_US_2016_09_01:443719001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:41) C0494165 \| liver metastasis \| 3 C1261473 \| sarcomas \| 3 C1261473 \| sarcoma \| 3 C1334699 \| mesenchymal tumor \| 2 C0153676 \| pulmonary metastases \| 2 C0007137 \| squamous cell carcinoma \| 2 C0009324 \| ulcerative colitis \| 1 C0023267 \| fibroid \| 1 C0007137 \| epidermoid carcinoma \| 1 C0023267 \| leiomyoma \| 1 C0235974 \| pancreatic carcinoma \| 1 C0042133 \| uterine fibroids \| 1 C0016057 \| fibrosarcomas \| 1 C0023267 \| leiomyomas \| 1 C0005684 \| bladder cancer \| 1 C0042133 \| uterine fibroid \| 1 C0375071 \| vulvar cancer \| 1 C0042133 \| uterine leiomyoma \| 1 C0035335 \| retinoblastoma \| 1 C0024299 \| lymphoma \| 1 C0686619 \| lymph node metastases \| 1 C0007847 \| cervical cancer \| 1 C0206658 \| smooth muscle tumour \| 1 C0019829 \| hodgkin's lymphoma \| 1 C0007107 \| laryngeal cancer \| 1 C0206694 \| mucoepidermoid carcinoma \| 1 C0032285 \| pneumonitis \| 1 C0494165 \| hepatic metastasis \| 1 C0280324 \| squamous cell carcinoma of the larynx \| 1 C0879615 \| stromal tumor \| 1 C0494165 \| liver metastases \| 1 C0948303 \| peritoneal carcinoma \| 1 C0007140 \| carcinosarcomas \| 1 C0030305 \| pancreatitis \| 1 C0039101 \| synovial sarcoma \| 1 C0024305 \| non-hodgkin's lymphoma \| 1 C0595989 \| carcinoma of the larynx \| 1 C0302592 \| cervical ca \| 1 C0153687 \| skin metastasis \| 1 C0238198 \| gastrointestinal stromal tumor \| 1 C0740457 \| renal cancer \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 3159 \| HMGA1 \| CTD_human 1440 \| CSF3 \| CTD_human 1756 \| DMD \| CTD_human 5743 \| PTGS2 \| CTD_human 11274 \| USP18 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:140) 7920 \| ABHD16A \| 1.499 \| DISEASES 87 \| ACTN1 \| 2.093 \| DISEASES 238 \| ALK \| 2.643 \| DISEASES 55107 \| ANO1 \| 3.964 \| DISEASES 196527 \| ANO6 \| 1.431 \| DISEASES 9138 \| ARHGEF1 \| 1.118 \| DISEASES 8289 \| ARID1A \| 1.352 \| DISEASES 10123 \| ARL4C \| 2.887 \| DISEASES 85300 \| ATCAY \| 1.479 \| DISEASES 546 \| ATRX \| 2.498 \| DISEASES 54880 \| BCOR \| 1.389 \| DISEASES 149428 \| BNIPL \| 1.882 \| DISEASES 768 \| CA9 \| 1.237 \| DISEASES 800 \| CALD1 \| 5.866 \| DISEASES 4076 \| CAPRIN1 \| 1.637 \| DISEASES 401237 \| CASC15 \| 1.988 \| DISEASES 887 \| CCKBR \| 1.128 \| DISEASES 57820 \| CCNB1IP1 \| 1.979 \| DISEASES 9332 \| CD163 \| 2.553 \| DISEASES 960 \| CD44 \| 1.284 \| DISEASES 4267 \| CD99 \| 1.885 \| DISEASES 978 \| CDA \| 1.097 \| DISEASES 1024 \| CDK8 \| 2.347 \| DISEASES 1029 \| CDKN2A \| 3.641 \| DISEASES 387836 \| CLEC2A \| 3.154 \| DISEASES 1380 \| CR2 \| 1.397 \| DISEASES 90993 \| CREB3L1 \| 1.286 \| DISEASES 64764 \| CREB3L2 \| 5.237 \| DISEASES 1435 \| CSF1 \| 2.288 \| DISEASES 10106 \| CTDSP2 \| 1.407 \| DISEASES 1499 \| CTNNB1 \| 1.97 \| DISEASES 1622 \| DBI \| 1.262 \| DISEASES 1785 \| DNM2 \| 1.766 \| DISEASES 8668 \| EIF3I \| 1.691 \| DISEASES 2130 \| EWSR1 \| 2.709 \| DISEASES 11124 \| FAF1 \| 1.17 \| DISEASES 54751 \| FBLIM1 \| 1.681 \| DISEASES 222235 \| FBXL13 \| 2.628 \| DISEASES 6468 \| FBXW4 \| 1.844 \| DISEASES 2259 \| FGF14 \| 1.319 \| DISEASES 2271 \| FH \| 4.183 \| DISEASES 2352 \| FOLR3 \| 2.165 \| DISEASES 3344 \| FOXN2 \| 1.925 \| DISEASES 4303 \| FOXO4 \| 3.818 \| DISEASES 139628 \| FOXR2 \| 1.68 \| DISEASES 6624 \| FSCN1 \| 1.263 \| DISEASES 8323 \| FZD6 \| 1.038 \| DISEASES 23193 \| GANAB \| 1.098 \| DISEASES 51512 \| GTSE1 \| 1.412 \| DISEASES 3039 \| HBA1 \| 2.709 \| DISEASES 3052 \| HCCS \| 1.17 \| DISEASES 9734 \| HDAC9 \| 1.241 \| DISEASES 55733 \| HHAT \| 3.768 \| DISEASES 3092 \| HIP1 \| 2.045 \| DISEASES 3009 \| HIST1H1B \| 1.232 \| DISEASES 8091 \| HMGA2 \| 2.734 \| DISEASES 29911 \| HOOK2 \| 1.776 \| DISEASES 3481 \| IGF2 \| 2.788 \| DISEASES 3645 \| INSRR \| 1.528 \| DISEASES 3679 \| ITGA7 \| 2.316 \| DISEASES 9452 \| ITM2A \| 1.996 \| DISEASES 3713 \| IVL \| 1.114 \| DISEASES 80333 \| KCNIP4 \| 3.33 \| DISEASES 2531 \| KDSR \| 2.13 \| DISEASES 3800 \| KIF5C \| 1.82 \| DISEASES 23633 \| KPNA6 \| 2.042 \| DISEASES 3855 \| KRT7 \| 1.287 \| DISEASES 100507540 \| LINC01504 \| 3.324 \| DISEASES 25802 \| LMOD1 \| 1.974 \| DISEASES 23542 \| MAPK8IP2 \| 1.538 \| DISEASES 4148 \| MATN3 \| 1.485 \| DISEASES 4151 \| MB \| 3.961 \| DISEASES 4193 \| MDM2 \| 4.123 \| DISEASES 9968 \| MED12 \| 4.723 \| DISEASES 54797 \| MED18 \| 2.656 \| DISEASES 4239 \| MFAP4 \| 1.453 \| DISEASES 2315 \| MLANA \| 3.744 \| DISEASES 4311 \| MME \| 3.598 \| DISEASES 2475 \| MTOR \| 2.135 \| DISEASES 4609 \| MYC \| 1.885 \| DISEASES 4638 \| MYLK \| 1.667 \| DISEASES 93649 \| MYOCD \| 2.723 \| DISEASES 89797 \| NAV2 \| 2.62 \| DISEASES 65009 \| NDRG4 \| 1.085 \| DISEASES 4763 \| NF1 \| 1.935 \| DISEASES 4803 \| NGF \| 1.324 \| DISEASES 22871 \| NLGN1 \| 1.084 \| DISEASES 4831 \| NME2 \| 1.231 \| DISEASES 283869 \| NPW \| 1.46 \| DISEASES 93034 \| NT5C1B \| 1.185 \| DISEASES 4914 \| NTRK1 \| 1.27 \| DISEASES 4927 \| NUP88 \| 1.471 \| DISEASES 84033 \| OBSCN \| 1.458 \| DISEASES 126014 \| OSCAR \| 1.514 \| DISEASES 344901 \| OSTN \| 2.068 \| DISEASES 7849 \| PAX8 \| 1.145 \| DISEASES 57326 \| PBXIP1 \| 1.966 \| DISEASES 5121 \| PCP4 \| 1.311 \| DISEASES 5241 \| PGR \| 3.728 \| DISEASES 5252 \| PHF1 \| 1.903 \| DISEASES 5324 \| PLAG1 \| 1.554 \| DISEASES 339501 \| PRSS38 \| 2.903 \| DISEASES 158471 \| PRUNE2 \| 3.807 \| DISEASES 5698 \| PSMB9 \| 3.714 \| DISEASES 5720 \| PSME1 \| 2.164 \| DISEASES 5728 \| PTEN \| 2.784 \| DISEASES 5788 \| PTPRC \| 1.88 \| DISEASES 51715 \| RAB23 \| 1.071 \| DISEASES 253260 \| RICTOR \| 1.15 \| DISEASES 6096 \| RORB \| 1.206 \| DISEASES 58490 \| RPRD1B \| 1.869 \| DISEASES 6297 \| SALL2 \| 1.327 \| DISEASES 60485 \| SAV1 \| 1.072 \| DISEASES 5265 \| SERPINA1 \| 2.029 \| DISEASES 12 \| SERPINA3 \| 2.947 \| DISEASES 11000 \| SLC27A3 \| 1.994 \| DISEASES 6513 \| SLC2A1 \| 1.19 \| DISEASES 139065 \| SLITRK4 \| 2.43 \| DISEASES 56916 \| SMARCAD1 \| 1.97 \| DISEASES 6525 \| SMTN \| 2.883 \| DISEASES 23583 \| SMUG1 \| 3.055 \| DISEASES 333929 \| SNAI3 \| 1.863 \| DISEASES 6645 \| SNTB2 \| 1.955 \| DISEASES 6663 \| SOX10 \| 1.328 \| DISEASES 54345 \| SOX18 \| 1.945 \| DISEASES 6756 \| SSX1 \| 3.126 \| DISEASES 727837 \| SSX2B \| 2.74 \| DISEASES 7088 \| TLE1 \| 2.132 \| DISEASES 7153 \| TOP2A \| 1.215 \| DISEASES 7155 \| TOP2B \| 1.207 \| DISEASES 7163 \| TPD52 \| 1.733 \| DISEASES 7102 \| TSPAN7 \| 1.099 \| DISEASES 7321 \| UBE2D1 \| 1.151 \| DISEASES 7410 \| VAV2 \| 1.01 \| DISEASES 7422 \| VEGFA \| 2.198 \| DISEASES 7490 \| WT1 \| 3.164 \| DISEASES 22803 \| XRN2 \| 1.748 \| DISEASES 8565 \| YARS \| 1.385 \| DISEASES 115560 \| ZNF501 \| 1.003 \| DISEASES 284390 \| ZNF763 \| 1.003 \| DISEASES
Locus	(Waiting for update.)

Disease ID	323
Disease	leiomyosarcoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:29) HP:0002664 \| Neoplasia \| 15 HP:0100242 \| Sarcoma \| 3 HP:0100723 \| Gastrointestinal stroma tumor \| 2 HP:0000131 \| Uterine leiomyoma \| 2 HP:0030731 \| Carcinoma \| 2 HP:0002860 \| Squamous cell carcinoma \| 2 HP:0001289 \| Confusion \| 1 HP:0002015 \| Swallowing difficulty \| 1 HP:0100279 \| Ulcerative colitis \| 1 HP:0001824 \| Weight loss \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0001945 \| Fever \| 1 HP:0001974 \| Leukocytosis \| 1 HP:0002665 \| Lymphoma \| 1 HP:0100544 \| Heart tumor \| 1 HP:0012570 \| Synovial sarcoma \| 1 HP:0012531 \| Pain \| 1 HP:0012189 \| Hodgkin disease \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0009725 \| Bladder neoplasm \| 1 HP:0002584 \| Intestinal hemorrhage \| 1 HP:0002239 \| Gastrointestinal hemorrhage \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0100721 \| Mediastinal lymphadenopathy \| 1 HP:0009733 \| Glioma \| 1 HP:0001733 \| Pancreatic inflammation \| 1 HP:0009919 \| Retinoblastoma \| 1 HP:0200058 \| Angiosarcoma \| 1 HP:0012118 \| Cancer of the larynx \| 1

Disease ID	323
Disease	leiomyosarcoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:21) C1142158 \| hepatic vein occlusion C0555278 \| cerebral metastasis C0494165 \| liver metastasis C0494165 \| liver metastases C0494165 \| hepatic metastasis C0346989 \| peritoneal metastases C0346976 \| pancreatic metastasis C0302592 \| carcinoma of the cervix C0302148 \| thrombus C0153690 \| bone metastasis C0153690 \| bone metastases C0153687 \| cutaneous metastasis C0153676 \| pulmonary metastasis C0153676 \| pulmonary metastases C0149871 \| deep venous thrombosis C0040053 \| thrombosis C0030552 \| paresis C0023885 \| liver abscesses C0023370 \| leriche syndrome C0020295 \| hydronephrosis C0011168 \| dysphagia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0494165 \| liver metastasis \| 3 C0153676 \| pulmonary metastases \| 2 C0494165 \| hepatic metastasis \| 1 C0011168 \| dysphagia \| 1

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

Text Mining Genotype(Total 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
rs13181	16646069	2073	ERCC5	umls:C0023269	BeFree	DNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosarcomas protuberans (DFSP), malignant fibrous histiocytomas and leiomyosarcomas were genotyped for both XPD Lys751Gln and XPG Asp1104His polymorphisms.	0.000271442	2006	ERCC2;KLC3	19	45351661	T	A,G
rs13181	16646069	2068	ERCC2	umls:C0023269	BeFree	DNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosarcomas protuberans (DFSP), malignant fibrous histiocytomas and leiomyosarcomas were genotyped for both XPD Lys751Gln and XPG Asp1104His polymorphisms.	0.000271442	2006	ERCC2;KLC3	19	45351661	T	A,G
rs17655	16646069	2073	ERCC5	umls:C0023269	BeFree	DNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosarcomas protuberans (DFSP), malignant fibrous histiocytomas and leiomyosarcomas were genotyped for both XPD Lys751Gln and XPG Asp1104His polymorphisms.	0.000271442	2006	ERCC5;BIVM-ERCC5	13	102875652	G	C
rs17655	16646069	2068	ERCC2	umls:C0023269	BeFree	DNA from 93 patients with synovial sarcomas, myxoid liposarcomas, dermatofibrosarcomas protuberans (DFSP), malignant fibrous histiocytomas and leiomyosarcomas were genotyped for both XPD Lys751Gln and XPG Asp1104His polymorphisms.	0.000271442	2006	ERCC5;BIVM-ERCC5	13	102875652	G	C

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	323
Disease	leiomyosarcoma
Case	(Waiting for update.)

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