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


	soft tissue sarcoma

Disease ID	643
Disease	soft tissue sarcoma
Definition	A connective tissue neoplasm formed by proliferation of mesodermal cells; it is usually highly malignant.
Synonym	[m]sarcoma nos [m]sarcoma nos (morphologic abnormality) cancer of the soft tissue connective tissue sarcoma malignant mesenchymal tumour malignant neoplasm of soft tissue malignant neoplasm of soft tissue (disorder) malignant neoplasm of soft tissues malignant neoplasm of the soft tissue malignant soft tissue neoplasm malignant soft tissue tumor malignant soft tissue tumors malignant tumor of soft tissue malignant tumor of soft tissue (disorder) malignant tumor of the soft tissue malignant tumour of soft tissue mesenchymal malignant tumor mesenchymal tumor, malignant mesenchymal tumour, malignant non-rhabdo. soft tissue sarcoma non-rhabdomyosarcoma soft tissue sarcoma, nos sarcoma sarcoma (disorder) sarcoma [disease/finding] sarcoma nos sarcoma of soft tissue sarcoma of soft tissue (disorder) sarcoma of soft tissue and bone sarcoma of the soft tissue sarcoma of the soft tissue and bone sarcoma soft tissue sarcoma, malignant sarcoma, no icd-o subtype sarcoma, no icd-o subtype (morphologic abnormality) sarcoma, no international classification of diseases for oncology subtype sarcoma, no international classification of diseases for oncology subtype (morphologic abnormality) sarcoma, nos sarcoma, soft tissue sarcomas sarcomas soft tissue sarcomas, soft tissue soft tissue sarcomas soft tissue tumor, malignant soft tissue tumour, malignant
Orphanet	ORPHANET:3394
DOID	DOID:1115
UMLS	C1261473
MeSH	D012509
SNOMED-CT	SNOMEDCT_US_2016_09_01:269469005;SNOMEDCT_US_2016_09_01:424413001;SNOMEDCT_US_2016_09_01:424952003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:235) C0023418 \| leukemia \| 17 C1261473 \| sarcoma \| 16 C0023827 \| liposarcoma \| 15 C0334463 \| malignant fibrous histiocytoma \| 14 C0024299 \| lymphoma \| 13 C0206644 \| fibrous histiocytoma \| 13 C1509147 \| histiocytoma \| 12 C0023467 \| acute myeloid leukemia \| 12 C0023470 \| myeloid leukemia \| 12 C0035412 \| rhabdomyosarcoma \| 9 C0024299 \| lymphomas \| 7 C1261473 \| sarcomas \| 6 C0553580 \| ewing sarcoma \| 5 C0001418 \| adenocarcinoma \| 5 C0153676 \| lung metastases \| 5 C0001175 \| acquired immunodeficiency syndrome \| 5 C0153676 \| lung metastasis \| 5 C0023269 \| leiomyosarcoma \| 5 C0029463 \| osteosarcoma \| 5 C1334699 \| mesenchymal tumor \| 5 C0206093 \| primitive neuroectodermal tumor \| 4 C0206651 \| clear cell sarcoma \| 4 C0030807 \| pemphigus \| 4 C0279980 \| extraskeletal ewing's sarcoma \| 4 C0039101 \| synovial sarcoma \| 4 C0025202 \| melanoma \| 4 C0025202 \| malignant melanoma \| 4 C0030809 \| pemphigus vulgaris \| 3 C0023487 \| acute promyelocytic leukemia \| 3 C1261473 \| soft tissue sarcoma \| 3 C0153676 \| pulmonary metastases \| 3 C0007115 \| thyroid ca \| 3 C0019829 \| hodgkin lymphoma \| 3 C0007137 \| squamous cell carcinoma \| 3 C0023443 \| hairy cell leukemia \| 3 C0001418 \| adenocarcinomas \| 3 C0023487 \| promyelocytic leukemia \| 3 C0026896 \| myasthenia gravis \| 3 C0024305 \| non-hodgkin lymphoma \| 3 C0085113 \| neurofibromatosis \| 3 C0879615 \| stromal tumor \| 3 C0023470 \| myelocytic leukemia \| 3 C0238198 \| gastrointestinal stromal tumor \| 2 C0010631 \| cystadenocarcinoma \| 2 C0023267 \| leiomyoma \| 2 C0024314 \| lymphoproliferative disorder \| 2 C0024314 \| lymphoproliferative disorders \| 2 C0030326 \| panniculitis \| 2 C0016057 \| fibrosarcoma \| 2 C0027819 \| neuroblastoma \| 2 C0549473 \| thyroid carcinoma \| 2 C0017658 \| glomerulonephritis \| 2 C0023473 \| chronic myelogenous leukemia \| 2 C0017525 \| giant cell tumor \| 2 C0007140 \| carcinosarcoma \| 2 C0027708 \| wilms' tumor \| 2 C0027947 \| neutropenia \| 2 C0017665 \| membranous glomerulonephritis \| 2 C0085669 \| acute leukemia \| 2 C0023269 \| leiomyosarcomas \| 2 C0259779 \| fibrous dysplasia \| 2 C0751690 \| malignant peripheral nerve sheath tumor \| 2 C0023470 \| myelogenous leukemia \| 2 C0238301 \| nasopharyngeal carcinoma \| 2 C0018916 \| hemangiomas \| 2 C0018922 \| hemangiopericytoma \| 2 C0686619 \| lymph node metastases \| 2 C0011570 \| depression \| 2 C0007137 \| squamous carcinoma \| 2 C0220650 \| brain metastasis \| 2 C0008625 \| chromosomal abnormality \| 2 C0003864 \| arthritis \| 2 C0033860 \| psoriasis \| 2 C0024299 \| malignant lymphoma \| 2 C0080032 \| malignant pleural effusion \| 2 C0026986 \| myelodysplastic syndrome \| 2 C0598894 \| monocytic leukemia \| 2 C0035078 \| renal failure \| 2 C0014175 \| endometriosis \| 2 C0035412 \| rhabdomyosarcomas \| 2 C0006142 \| breast cancer \| 2 C0024205 \| lymphadenitis \| 2 C0032326 \| pneumothorax \| 2 C0023434 \| lymphocytic lymphoma \| 2 C0153676 \| pulmonary metastasis \| 2 C1153706 \| adenocarcinoma of the uterus \| 1 C0025202 \| melanomas \| 1 C0033680 \| protein-losing enteropathy \| 1 C0023434 \| small lymphocytic lymphoma \| 1 C0022661 \| chronic renal failure \| 1 C0023470 \| myeloid leukaemia \| 1 C0023267 \| fibroid \| 1 C0023895 \| hepatic disease \| 1 C0678222 \| mammary carcinoma \| 1 C0494165 \| liver metastasis \| 1 C0206702 \| klatskin tumor \| 1 C0948303 \| peritoneal carcinoma \| 1 C1261473 \| soft tissue sarcomas \| 1 C1334811 \| mucinous tumor \| 1 C0040261 \| onychomycosis \| 1 C1328840 \| autoimmune lymphoproliferative syndrome \| 1 C0155773 \| portal vein thrombosis \| 1 C0009324 \| ulcerative colitis \| 1 C0206623 \| adenosquamous carcinoma \| 1 C0700251 \| brachial plexopathy \| 1 C0376358 \| prostate cancer \| 1 C0206657 \| alveolar soft part sarcoma \| 1 C0003615 \| appendicitis \| 1 C0027086 \| myomas \| 1 C1335437 \| plexopathy \| 1 C0021843 \| intestinal obstruction \| 1 C0018213 \| graves disease \| 1 C0023470 \| myelogenous leukaemia \| 1 C0027809 \| schwannoma \| 1 C0280856 \| vulvar squamous cell carcinoma \| 1 C0036631 \| seminoma \| 1 C0018801 \| heart failure \| 1 C0278586 \| metastatic ewing's sarcoma \| 1 C0220650 \| brain metastases \| 1 C0751967 \| relapsing-remitting multiple sclerosis \| 1 C0392548 \| cauda equina syndrome \| 1 C0025202 \| malignant melanomas \| 1 C1334699 \| mesenchymal neoplasm \| 1 C0018206 \| granulosa cell tumors \| 1 C0042373 \| vascular diseases \| 1 C0019204 \| hepatocellular carcinoma \| 1 C0334254 \| lymphoepithelioma \| 1 C0302592 \| cervical ca \| 1 C0001175 \| acquired immune deficiency syndrome \| 1 C0029456 \| osteoporosis \| 1 C0029443 \| osteomyelitis \| 1 C0026393 \| molluscum contagiosum \| 1 C0042133 \| uterine fibroid \| 1 C0270736 \| essential tremor \| 1 C0021843 \| bowel obstruction \| 1 C0279530 \| bone cancer \| 1 C0043117 \| idiopathic thrombocytopenia \| 1 C0016045 \| fibroma \| 1 C0334634 \| mantle cell lymphoma \| 1 C0007137 \| squamous cell carcinomas \| 1 C0009319 \| colitis \| 1 C0023267 \| fibroids \| 1 C0036631 \| seminomas \| 1 C0011615 \| atopic dermatitis \| 1 C0024301 \| follicular lymphoma \| 1 C0162482 \| uterine inversion \| 1 C0040558 \| toxoplasmosis \| 1 C0178879 \| urinary obstruction \| 1 C0025286 \| meningiomas \| 1 C0238463 \| papillary thyroid carcinoma \| 1 C1368910 \| mature teratoma \| 1 C1333971 \| mesenchymal hamartoma of the liver \| 1 C0032000 \| pituitary adenoma \| 1 C0007113 \| rectal cancer \| 1 C0040034 \| thrombocytopenia \| 1 C0018802 \| congestive heart failure \| 1 C0086692 \| benign neoplasms \| 1 C0005684 \| bladder cancer \| 1 C0023465 \| acute monocytic leukemia \| 1 C0024299 \| malignant lymphomas \| 1 C0016057 \| fibrosarcomas \| 1 C1332850 \| primary cardiac lymphoma \| 1 C0001430 \| adenoma \| 1 C0023890 \| cirrhosis \| 1 C0022354 \| obstructive jaundice \| 1 C0042900 \| vitiligo \| 1 C0221406 \| cushing disease \| 1 C0004153 \| atherosclerosis \| 1 C0027022 \| myeloproliferative neoplasms \| 1 C0019348 \| herpes simplex \| 1 C0494165 \| hepatic metastases \| 1 C0018206 \| granulosa cell tumor \| 1 C0011603 \| dermatitis \| 1 C0002871 \| anemia \| 1 C0152025 \| polyneuropathy \| 1 C0021831 \| enteropathy \| 1 C0007102 \| colon cancer \| 1 C0040028 \| essential thrombocythemia \| 1 C0024291 \| hemophagocytic syndrome \| 1 C0494165 \| liver metastases \| 1 C0341858 \| adenomyosis \| 1 C0029925 \| carcinoma of ovary \| 1 C0030805 \| bullous pemphigoid \| 1 C0206701 \| serous carcinoma \| 1 C0334517 \| spermatocytic seminoma \| 1 C0086692 \| benign neoplasm \| 1 C0027830 \| neurofibromas \| 1 C0014742 \| erythema multiforme \| 1 C0349604 \| intracranial meningiomas \| 1 C0041296 \| tuberculosis \| 1 C0023449 \| acute lymphoblastic leukemia \| 1 C0007847 \| cervical cancer \| 1 C0003873 \| rheumatoid arthritis \| 1 C0001175 \| acquired immune deficiency \| 1 C0281508 \| desmoplastic small round cell tumor \| 1 C0585129 \| retroperitoneal sarcoma \| 1 C0079419 \| li-fraumeni syndrome \| 1 C0012739 \| disseminated intravascular coagulation \| 1 C0010635 \| mucinous cystadenoma \| 1 C0349604 \| intracranial meningioma \| 1 C0206699 \| mucinous cystadenocarcinoma \| 1 C0836924 \| thrombocythemia \| 1 C0027022 \| myeloid malignancy \| 1 C0023473 \| chronic myeloid leukaemia \| 1 C0345967 \| malignant mesothelioma \| 1 C0238198 \| gastrointestinal stromal tumor (gist) \| 1 C0023448 \| lymphoblastic leukemia \| 1 C0028754 \| obesity \| 1 C0010633 \| cystadenoma \| 1 C0023418 \| leukaemia \| 1 C0017636 \| glioblastoma \| 1 C0037274 \| dermatological disorder \| 1 C0023473 \| chronic myeloid leukemia \| 1 C0004134 \| ataxia \| 1 C0000889 \| acanthosis nigricans \| 1 C0042133 \| uterine leiomyoma \| 1 C0156273 \| bladder diverticula \| 1 C0026764 \| myeloma \| 1 C0553580 \| ewing's sarcoma \| 1 C0026640 \| oral cancer \| 1 C0040053 \| thrombosis \| 1 C0026769 \| multiple sclerosis \| 1 C0242379 \| lung cancer \| 1 C0039538 \| teratomas \| 1 C0011633 \| dermatomyositis \| 1 C0205696 \| anaplastic carcinoma \| 1 C0023267 \| leiomyomas \| 1 C0149782 \| squamous cell carcinoma of the lung \| 1 C0854906 \| benign schwannoma \| 1 C0751483 \| hereditary retinoblastoma \| 1 C0023827 \| liposarcomas \| 1 C0023467 \| acute myeloblastic leukemia \| 1 C0002871 \| anaemia \| 1 C0206630 \| endometrial stromal sarcoma \| 1 C0042373 \| vascular disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:13) 7124 \| TNF \| CTD_human 3458 \| IFNG \| CTD_human 7157 \| TP53 \| CLINVAR;CTD_human 4170 \| MCL1 \| CTD_human 4763 \| NF1 \| CTD_human 1437 \| CSF2 \| CTD_human 5290 \| PIK3CA \| CLINVAR;CTD_human 6657 \| SOX2 \| CTD_human 2950 \| GSTP1 \| CTD_human 23532 \| PRAME \| CTD_human 6597 \| SMARCA4 \| CTD_human 5077 \| PAX3 \| CTD_human 55534 \| MAML3 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:23) 2068 \| ERCC2 \| CIPHER 2073 \| ERCC5 \| CIPHER 3265 \| HRAS \| CIPHER 3845 \| KRAS \| CIPHER 4893 \| NRAS \| CIPHER 7157 \| TP53 \| CIPHER;CTD_human 2944 \| GSTM1 \| CIPHER 2952 \| GSTT1 \| CIPHER 7515 \| XRCC1 \| CIPHER 7516 \| XRCC2 \| CIPHER 7517 \| XRCC3 \| CIPHER 1437 \| CSF2 \| CTD_human 3458 \| IFNG \| CTD_human 23532 \| PRAME \| CTD_human 2950 \| GSTP1 \| CTD_human 4763 \| NF1 \| CTD_human 55534 \| MAML3 \| CTD_human 7124 \| TNF \| CTD_human 4170 \| MCL1 \| CTD_human 5077 \| PAX3 \| CTD_human 6657 \| SOX2 \| CTD_human 6597 \| SMARCA4 \| CTD_human 5290 \| PIK3CA \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:388) 25 \| ABL1 \| 1.321 \| DISEASES 23527 \| ACAP2 \| 1.956 \| DISEASES 60 \| ACTB \| 1.384 \| DISEASES 71 \| ACTG1 \| 1.473 \| DISEASES 101 \| ADAM8 \| 2.762 \| DISEASES 159 \| ADSS \| 1.227 \| DISEASES 174 \| AFP \| 2.591 \| DISEASES 199 \| AIF1 \| 1.724 \| DISEASES 9255 \| AIMP1 \| 1.322 \| DISEASES 8852 \| AKAP4 \| 1.26 \| DISEASES 64400 \| AKTIP \| 1.465 \| DISEASES 238 \| ALK \| 3.647 \| DISEASES 84964 \| ALKBH6 \| 2.238 \| DISEASES 23452 \| ANGPTL2 \| 1.248 \| DISEASES 55107 \| ANO1 \| 2.457 \| DISEASES 8125 \| ANP32A \| 1.992 \| DISEASES 9938 \| ARHGAP25 \| 1.37 \| DISEASES 27237 \| ARHGEF16 \| 1.516 \| DISEASES 115557 \| ARHGEF25 \| 1.984 \| DISEASES 8289 \| ARID1A \| 1.705 \| DISEASES 121549 \| ASCL4 \| 1.351 \| DISEASES 647219 \| ASCL5 \| 1.782 \| DISEASES 27032 \| ATP2C1 \| 1.432 \| DISEASES 546 \| ATRX \| 1.604 \| DISEASES 9334 \| B4GALT5 \| 1.004 \| DISEASES 100874322 \| BACH1-IT2 \| 2.492 \| DISEASES 8938 \| BAIAP3 \| 1.048 \| DISEASES 440603 \| BCL2L15 \| 1.098 \| DISEASES 54880 \| BCOR \| 4.225 \| DISEASES 650 \| BMP2 \| 1.372 \| DISEASES 353500 \| BMP8A \| 1.09 \| DISEASES 672 \| BRCA1 \| 1.929 \| DISEASES 675 \| BRCA2 \| 2.036 \| DISEASES 65250 \| C5orf42 \| 1.206 \| DISEASES 100507249 \| C8orf17 \| 1.37 \| DISEASES 768 \| CA9 \| 1.675 \| DISEASES 796 \| CALCA \| 1.653 \| DISEASES 800 \| CALD1 \| 4.181 \| DISEASES 79823 \| CAMKMT \| 1.829 \| DISEASES 55259 \| CASC1 \| 1.352 \| DISEASES 841 \| CASP8 \| 2.343 \| DISEASES 842 \| CASP9 \| 1.81 \| DISEASES 857 \| CAV1 \| 2.049 \| DISEASES 900 \| CCNG1 \| 1.62 \| DISEASES 9973 \| CCS \| 1.257 \| DISEASES 9332 \| CD163 \| 3.804 \| DISEASES 930 \| CD19 \| 1.065 \| DISEASES 911 \| CD1C \| 1.174 \| DISEASES 914 \| CD2 \| 1.069 \| DISEASES 50489 \| CD207 \| 1.441 \| DISEASES 29126 \| CD274 \| 2.391 \| DISEASES 959 \| CD40LG \| 1.984 \| DISEASES 960 \| CD44 \| 3.045 \| DISEASES 942 \| CD86 \| 1.139 \| DISEASES 4267 \| CD99 \| 5.606 \| DISEASES 978 \| CDA \| 1.338 \| DISEASES 64405 \| CDH22 \| 1.067 \| DISEASES 1003 \| CDH5 \| 1.448 \| DISEASES 1029 \| CDKN2A \| 3.617 \| DISEASES 387119 \| CEP85L \| 1.183 \| DISEASES 1111 \| CHEK1 \| 1.039 \| DISEASES 11200 \| CHEK2 \| 1.859 \| DISEASES 7122 \| CLDN5 \| 1.586 \| DISEASES 283971 \| CLEC18C \| 2.838 \| DISEASES 4850 \| CNOT4 \| 1.174 \| DISEASES 80781 \| COL18A1 \| 1.214 \| DISEASES 1378 \| CR1 \| 3.556 \| DISEASES 1380 \| CR2 \| 4.327 \| DISEASES 1385 \| CREB1 \| 2.783 \| DISEASES 90993 \| CREB3L1 \| 4.151 \| DISEASES 64764 \| CREB3L2 \| 6.232 \| DISEASES 1399 \| CRKL \| 1.189 \| DISEASES 1435 \| CSF1 \| 2.111 \| DISEASES 1438 \| CSF2RA \| 1.099 \| DISEASES 1447 \| CSN2 \| 1.752 \| DISEASES 1460 \| CSNK2B \| 1.186 \| DISEASES 1485 \| CTAG1B \| 2.983 \| DISEASES 1490 \| CTGF \| 1.039 \| DISEASES 1499 \| CTNNB1 \| 3.373 \| DISEASES 56474 \| CTPS2 \| 1.16 \| DISEASES 1520 \| CTSS \| 1.715 \| DISEASES 7852 \| CXCR4 \| 1.345 \| DISEASES 1555 \| CYP2B6 \| 1.807 \| DISEASES 1576 \| CYP3A4 \| 1.821 \| DISEASES 1649 \| DDIT3 \| 2.742 \| DISEASES 23109 \| DDN \| 1.319 \| DISEASES 23405 \| DICER1 \| 2.85 \| DISEASES 22943 \| DKK1 \| 1.023 \| DISEASES 1785 \| DNM2 \| 1.169 \| DISEASES 1791 \| DNTT \| 1.894 \| DISEASES 79930 \| DOK3 \| 1.938 \| DISEASES 51514 \| DTL \| 1.492 \| DISEASES 100288687 \| DUX4 \| 4.447 \| DISEASES 653545 \| DUX4L5 \| 4.447 \| DISEASES 1896 \| EDA \| 1.611 \| DISEASES 1906 \| EDN1 \| 1.221 \| DISEASES 1907 \| EDN2 \| 1.723 \| DISEASES 1977 \| EIF4E \| 1.346 \| DISEASES 1978 \| EIF4EBP1 \| 2.091 \| DISEASES 1999 \| ELF3 \| 2.045 \| DISEASES 27436 \| EML4 \| 1.607 \| DISEASES 161436 \| EML5 \| 1.542 \| DISEASES 2013 \| EMP2 \| 1.48 \| DISEASES 2022 \| ENG \| 2.46 \| DISEASES 1969 \| EPHA2 \| 1.695 \| DISEASES 30816 \| ERVW-1 \| 4.56 \| DISEASES 2113 \| ETS1 \| 2.196 \| DISEASES 2114 \| ETS2 \| 1.066 \| DISEASES 2115 \| ETV1 \| 3.652 \| DISEASES 2118 \| ETV4 \| 3.49 \| DISEASES 2120 \| ETV6 \| 1.754 \| DISEASES 2130 \| EWSR1 \| 7.347 \| DISEASES 51013 \| EXOSC1 \| 1.036 \| DISEASES 2132 \| EXT2 \| 1.042 \| DISEASES 7430 \| EZR \| 2.439 \| DISEASES 2152 \| F3 \| 1.413 \| DISEASES 2155 \| F7 \| 1.391 \| DISEASES 2157 \| F8 \| 3.154 \| DISEASES 257415 \| FAM133B \| 1.622 \| DISEASES 134145 \| FAM173B \| 1.187 \| DISEASES 54540 \| FAM193B \| 2.236 \| DISEASES 113828 \| FAM83F \| 1.883 \| DISEASES 2187 \| FANCB \| 1.28 \| DISEASES 55120 \| FANCL \| 1.463 \| DISEASES 355 \| FAS \| 1.403 \| DISEASES 356 \| FASLG \| 2.357 \| DISEASES 2197 \| FAU \| 1.15 \| DISEASES 2242 \| FES \| 3.585 \| DISEASES 2246 \| FGF1 \| 1.652 \| DISEASES 2253 \| FGF8 \| 1.546 \| DISEASES 2260 \| FGFR1 \| 2.274 \| DISEASES 2263 \| FGFR2 \| 1.28 \| DISEASES 2268 \| FGR \| 1.146 \| DISEASES 81608 \| FIP1L1 \| 1.173 \| DISEASES 2313 \| FLI1 \| 3.446 \| DISEASES 2314 \| FLII \| 4.733 \| DISEASES 158521 \| FMR1NB \| 1.073 \| DISEASES 2352 \| FOLR3 \| 1.14 \| DISEASES 221937 \| FOXK1 \| 1.602 \| DISEASES 2300 \| FOXL1 \| 1.19 \| DISEASES 2305 \| FOXM1 \| 1.342 \| DISEASES 2308 \| FOXO1 \| 4.386 \| DISEASES 4303 \| FOXO4 \| 4.031 \| DISEASES 6624 \| FSCN1 \| 3.002 \| DISEASES 2526 \| FUT4 \| 2.418 \| DISEASES 2534 \| FYN \| 1.154 \| DISEASES 1647 \| GADD45A \| 1.289 \| DISEASES 2618 \| GART \| 1.57 \| DISEASES 2737 \| GLI3 \| 1.129 \| DISEASES 2811 \| GP1BA \| 1.012 \| DISEASES 2719 \| GPC3 \| 1.6 \| DISEASES 29933 \| GPR132 \| 1.505 \| DISEASES 2874 \| GPS2 \| 1.168 \| DISEASES 2932 \| GSK3B \| 1.106 \| DISEASES 57000 \| GSN-AS1 \| 1.203 \| DISEASES 3014 \| H2AFX \| 1.932 \| DISEASES 3020 \| H3F3A \| 1.051 \| DISEASES 3039 \| HBA1 \| 5.627 \| DISEASES 3052 \| HCCS \| 3.066 \| DISEASES 23462 \| HEY1 \| 2.162 \| DISEASES 55733 \| HHAT \| 1.083 \| DISEASES 3091 \| HIF1A \| 2.233 \| DISEASES 8337 \| HIST2H2AA3 \| 2.399 \| DISEASES 8338 \| HIST2H2AC \| 2.399 \| DISEASES 8349 \| HIST2H2BE \| 2.799 \| DISEASES 8091 \| HMGA2 \| 2.733 \| DISEASES 51155 \| HN1 \| 1.341 \| DISEASES 3320 \| HSP90AA1 \| 2.053 \| DISEASES 3303 \| HSPA1A \| 1.345 \| DISEASES 3440 \| IFNA2 \| 2.171 \| DISEASES 3456 \| IFNB1 \| 1.355 \| DISEASES 3481 \| IGF2 \| 3.118 \| DISEASES 3486 \| IGFBP3 \| 1.428 \| DISEASES 3586 \| IL10 \| 1.296 \| DISEASES 54556 \| ING3 \| 1.261 \| DISEASES 8515 \| ITGA10 \| 1.267 \| DISEASES 3681 \| ITGAD \| 3.663 \| DISEASES 3684 \| ITGAM \| 2.085 \| DISEASES 3725 \| JUN \| 2.702 \| DISEASES 11004 \| KIF2C \| 1.508 \| DISEASES 3875 \| KRT18 \| 1.981 \| DISEASES 3880 \| KRT19 \| 2.01 \| DISEASES 3855 \| KRT7 \| 3.172 \| DISEASES 3897 \| L1CAM \| 2.74 \| DISEASES 284217 \| LAMA1 \| 1.305 \| DISEASES 51520 \| LARS \| 2.014 \| DISEASES 353133 \| LCE1C \| 1.612 \| DISEASES 342900 \| LEUTX \| 1.836 \| DISEASES 106660612 \| LINC00680 \| 2.492 \| DISEASES 100507540 \| LINC01504 \| 2.299 \| DISEASES 4067 \| LYN \| 1.428 \| DISEASES 4100 \| MAGEA1 \| 1.42 \| DISEASES 4102 \| MAGEA3 \| 1.517 \| DISEASES 51438 \| MAGEC2 \| 3.159 \| DISEASES 55534 \| MAML3 \| 3.244 \| DISEASES 10905 \| MAN1A2 \| 1.488 \| DISEASES 5609 \| MAP2K7 \| 3.274 \| DISEASES 5599 \| MAPK8 \| 1.781 \| DISEASES 23542 \| MAPK8IP2 \| 1.493 \| DISEASES 5601 \| MAPK9 \| 1.407 \| DISEASES 4151 \| MB \| 4.174 \| DISEASES 154141 \| MBOAT1 \| 1.275 \| DISEASES 4168 \| MCF2 \| 2.028 \| DISEASES 4170 \| MCL1 \| 1.78 \| DISEASES 4192 \| MDK \| 1.117 \| DISEASES 4193 \| MDM2 \| 4.992 \| DISEASES 4194 \| MDM4 \| 2.197 \| DISEASES 23195 \| MDN1 \| 2.318 \| DISEASES 9968 \| MED12 \| 1.487 \| DISEASES 10724 \| MGEA5 \| 1.724 \| DISEASES 2315 \| MLANA \| 4.541 \| DISEASES 4311 \| MME \| 3.72 \| DISEASES 4312 \| MMP1 \| 1.126 \| DISEASES 4318 \| MMP9 \| 2.129 \| DISEASES 4507 \| MTAP \| 2.4 \| DISEASES 54545 \| MTMR12 \| 1.069 \| DISEASES 2475 \| MTOR \| 3.539 \| DISEASES 4582 \| MUC1 \| 1.036 \| DISEASES 4585 \| MUC4 \| 3.386 \| DISEASES 4599 \| MX1 \| 3.237 \| DISEASES 4600 \| MX2 \| 1.034 \| DISEASES 4609 \| MYC \| 3.768 \| DISEASES 89797 \| NAV2 \| 1.103 \| DISEASES 10499 \| NCOA2 \| 1.334 \| DISEASES 259197 \| NCR3 \| 1.742 \| DISEASES 10763 \| NES \| 2.063 \| DISEASES 4763 \| NF1 \| 3.562 \| DISEASES 4771 \| NF2 \| 1.434 \| DISEASES 4773 \| NFATC2 \| 1.222 \| DISEASES 4803 \| NGF \| 2.252 \| DISEASES 28512 \| NKIRAS1 \| 1.077 \| DISEASES 4821 \| NKX2-2 \| 2.885 \| DISEASES 4831 \| NME2 \| 1.43 \| DISEASES 283820 \| NOMO2 \| 1.046 \| DISEASES 408050 \| NOMO3 \| 1.048 \| DISEASES 10360 \| NPM3 \| 1.869 \| DISEASES 190 \| NR0B1 \| 1.887 \| DISEASES 8013 \| NR4A3 \| 3.46 \| DISEASES 4893 \| NRAS \| 3.326 \| DISEASES 4914 \| NTRK1 \| 1.542 \| DISEASES 4916 \| NTRK3 \| 1.567 \| DISEASES 23386 \| NUDCD3 \| 1.742 \| DISEASES 23279 \| NUP160 \| 1.702 \| DISEASES 341416 \| OR6C2 \| 1.474 \| DISEASES 734 \| OSGIN2 \| 1.157 \| DISEASES 344901 \| OSTN \| 1.043 \| DISEASES 142 \| PARP1 \| 2.323 \| DISEASES 5074 \| PAWR \| 1.193 \| DISEASES 5077 \| PAX3 \| 4.835 \| DISEASES 5079 \| PAX5 \| 1.897 \| DISEASES 5081 \| PAX7 \| 4.195 \| DISEASES 7849 \| PAX8 \| 2.191 \| DISEASES 56144 \| PCDHA4 \| 1.885 \| DISEASES 5125 \| PCSK5 \| 2.589 \| DISEASES 5133 \| PDCD1 \| 1.36 \| DISEASES 80380 \| PDCD1LG2 \| 1.213 \| DISEASES 5154 \| PDGFA \| 1.581 \| DISEASES 5155 \| PDGFB \| 3.291 \| DISEASES 56034 \| PDGFC \| 1.72 \| DISEASES 80310 \| PDGFD \| 1.183 \| DISEASES 5228 \| PGF \| 2.074 \| DISEASES 5236 \| PGM1 \| 2.419 \| DISEASES 55276 \| PGM2 \| 1.066 \| DISEASES 5241 \| PGR \| 2.72 \| DISEASES 5252 \| PHF1 \| 1.261 \| DISEASES 11040 \| PIM2 \| 1.065 \| DISEASES 11187 \| PKP3 \| 1.484 \| DISEASES 84812 \| PLCD4 \| 1.254 \| DISEASES 389072 \| PLEKHM3 \| 2.148 \| DISEASES 6490 \| PMEL \| 1.073 \| DISEASES 87178 \| PNPT1 \| 1.484 \| DISEASES 5453 \| POU3F1 \| 1.593 \| DISEASES 5457 \| POU4F1 \| 1.185 \| DISEASES 5501 \| PPP1CC \| 1.033 \| DISEASES 5518 \| PPP2R1A \| 1.44 \| DISEASES 5529 \| PPP2R5E \| 1.913 \| DISEASES 5530 \| PPP3CA \| 1.868 \| DISEASES 23532 \| PRAME \| 1.232 \| DISEASES 56980 \| PRDM10 \| 2.249 \| DISEASES 56341 \| PRMT8 \| 1.039 \| DISEASES 8842 \| PROM1 \| 2.175 \| DISEASES 5634 \| PRPS2 \| 1.239 \| DISEASES 5720 \| PSME1 \| 1.139 \| DISEASES 23198 \| PSME4 \| 1.853 \| DISEASES 5727 \| PTCH1 \| 2.342 \| DISEASES 5728 \| PTEN \| 3.076 \| DISEASES 5743 \| PTGS2 \| 1.105 \| DISEASES 5744 \| PTHLH \| 1.629 \| DISEASES 5747 \| PTK2 \| 1.422 \| DISEASES 5781 \| PTPN11 \| 1.851 \| DISEASES 5787 \| PTPRB \| 1.514 \| DISEASES 5788 \| PTPRC \| 4.112 \| DISEASES 5820 \| PVT1 \| 1.094 \| DISEASES 5888 \| RAD51 \| 1.021 \| DISEASES 11186 \| RASSF1 \| 1.43 \| DISEASES 343035 \| RD3 \| 2.144 \| DISEASES 5979 \| RET \| 2.084 \| DISEASES 6005 \| RHAG \| 1.43 \| DISEASES 6007 \| RHD \| 3.743 \| DISEASES 6016 \| RIT1 \| 1.742 \| DISEASES 6093 \| ROCK1 \| 1.099 \| DISEASES 6098 \| ROS1 \| 2.082 \| DISEASES 6136 \| RPL12 \| 1.011 \| DISEASES 9349 \| RPL23 \| 1.612 \| DISEASES 6207 \| RPS13 \| 2.578 \| DISEASES 6222 \| RPS18 \| 1.164 \| DISEASES 6238 \| RRBP1 \| 1.136 \| DISEASES 22902 \| RUFY3 \| 1.618 \| DISEASES 860 \| RUNX2 \| 1.01 \| DISEASES 9853 \| RUSC2 \| 1.436 \| DISEASES 6280 \| S100A9 \| 1.766 \| DISEASES 54938 \| SARS2 \| 1.935 \| DISEASES 152579 \| SCFD2 \| 1.87 \| DISEASES 6401 \| SELE \| 1.267 \| DISEASES 5265 \| SERPINA1 \| 3.164 \| DISEASES 12 \| SERPINA3 \| 3.34 \| DISEASES 29072 \| SETD2 \| 1.499 \| DISEASES 7536 \| SF1 \| 1.491 \| DISEASES 653509 \| SFTPA1 \| 1.281 \| DISEASES 729238 \| SFTPA2 \| 1.074 \| DISEASES 117157 \| SH2D1B \| 3.483 \| DISEASES 400745 \| SH2D5 \| 1.308 \| DISEASES 153769 \| SH3RF2 \| 1.699 \| DISEASES 6497 \| SKI \| 2.107 \| DISEASES 6513 \| SLC2A1 \| 1.808 \| DISEASES 29015 \| SLC43A3 \| 1.793 \| DISEASES 139065 \| SLITRK4 \| 1.406 \| DISEASES 6525 \| SMTN \| 1.416 \| DISEASES 23583 \| SMUG1 \| 4.784 \| DISEASES 6663 \| SOX10 \| 3.033 \| DISEASES 6657 \| SOX2 \| 1.99 \| DISEASES 200162 \| SPAG17 \| 1.372 \| DISEASES 6693 \| SPN \| 2.223 \| DISEASES 6696 \| SPP1 \| 1.167 \| DISEASES 6714 \| SRC \| 4.919 \| DISEASES 26576 \| SRPK3 \| 1.351 \| DISEASES 6760 \| SS18 \| 4.28 \| DISEASES 6756 \| SSX1 \| 4.453 \| DISEASES 727837 \| SSX2B \| 4.937 \| DISEASES 6759 \| SSX4 \| 1.532 \| DISEASES 548313 \| SSX4B \| 1.539 \| DISEASES 10274 \| STAG1 \| 4.459 \| DISEASES 6772 \| STAT1 \| 1.41 \| DISEASES 8148 \| TAF15 \| 3.219 \| DISEASES 6878 \| TAF6 \| 1.599 \| DISEASES 100507308 \| TARID \| 2.21 \| DISEASES 6898 \| TAT \| 2.05 \| DISEASES 10607 \| TBL3 \| 1.654 \| DISEASES 6938 \| TCF12 \| 1.285 \| DISEASES 9623 \| TCL1B \| 1.492 \| DISEASES 6999 \| TDO2 \| 1.799 \| DISEASES 7010 \| TEK \| 2.008 \| DISEASES 26136 \| TES \| 2.271 \| DISEASES 56157 \| TEX13A \| 2.226 \| DISEASES 7018 \| TF \| 1.654 \| DISEASES 7056 \| THBD \| 1.074 \| DISEASES 7072 \| TIA1 \| 1.174 \| DISEASES 7075 \| TIE1 \| 1.698 \| DISEASES 7088 \| TLE1 \| 2.967 \| DISEASES 7124 \| TNF \| 3.867 \| DISEASES 126282 \| TNFAIP8L1 \| 1.047 \| DISEASES 3604 \| TNFRSF9 \| 1.892 \| DISEASES 3842 \| TNPO1 \| 1.803 \| DISEASES 30000 \| TNPO2 \| 1.302 \| DISEASES 7150 \| TOP1 \| 2.432 \| DISEASES 7170 \| TPM3 \| 1.587 \| DISEASES 8459 \| TPST2 \| 1.061 \| DISEASES 7102 \| TSPAN7 \| 1.076 \| DISEASES 7321 \| UBE2D1 \| 2.223 \| DISEASES 83549 \| UCK1 \| 1.301 \| DISEASES 127933 \| UHMK1 \| 1.107 \| DISEASES 7378 \| UPP1 \| 1.721 \| DISEASES 7422 \| VEGFA \| 4.074 \| DISEASES 389136 \| VGLL3 \| 2.511 \| DISEASES 51534 \| VTA1 \| 2.125 \| DISEASES 7465 \| WEE1 \| 1.645 \| DISEASES 7490 \| WT1 \| 4.69 \| DISEASES 25937 \| WWTR1 \| 2.611 \| DISEASES 9502 \| XAGE2 \| 2.083 \| DISEASES 331 \| XIAP \| 1.077 \| DISEASES 4904 \| YBX1 \| 3.422 \| DISEASES 7525 \| YES1 \| 1.939 \| DISEASES 326340 \| ZAR1 \| 1.032 \| DISEASES 55893 \| ZNF395 \| 1.83 \| DISEASES 51193 \| ZNF639 \| 1.658 \| DISEASES 7620 \| ZNF69 \| 1.669 \| DISEASES 9406 \| ZRANB2 \| 1.16 \| DISEASES 7791 \| ZYX \| 1.406 \| DISEASES
Locus	(Waiting for update.)

Disease ID	643
Disease	soft tissue sarcoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:134) HP:0002664 \| Neoplasia \| 137 HP:0100242 \| Sarcoma \| 18 HP:0001909 \| Leukemia \| 17 HP:0012034 \| Liposarcoma \| 15 HP:0002665 \| Lymphoma \| 13 HP:0004808 \| Acute myelogenous leukemia \| 13 HP:0012324 \| Myeloid leukemia \| 12 HP:0012315 \| Histiocytoma \| 12 HP:0002835 \| Aspiration \| 10 HP:0002859 \| Rhabdomyosarcoma \| 9 HP:0030731 \| Carcinoma \| 7 HP:0012254 \| Ewing's sarcoma \| 7 HP:0002861 \| Melanoma \| 7 HP:0012531 \| Pain \| 6 HP:0012570 \| Synovial sarcoma \| 5 HP:0002721 \| Immunodeficiency \| 5 HP:0002669 \| Osteosarcoma \| 5 HP:0002202 \| Pleural effusion \| 5 HP:0100243 \| Leiomyosarcoma \| 5 HP:0100723 \| Gastrointestinal stroma tumor \| 4 HP:0001548 \| Overgrowth \| 4 HP:0030065 \| Primitive neuroectodermal tumor \| 4 HP:0200058 \| Angiosarcoma \| 4 HP:0001067 \| Neurofibromas \| 4 HP:0000718 \| Aggressive behaviour \| 4 HP:0001289 \| Confusion \| 4 HP:0003006 \| Neuroblastoma \| 3 HP:0012189 \| Hodgkin disease \| 3 HP:0004836 \| Acute promyelocytic leukemia \| 3 HP:0012539 \| Non-Hodgkin lymphoma \| 3 HP:0030448 \| Soft tissue sarcoma \| 3 HP:0005506 \| Chronic myeloid leukemia \| 3 HP:0002860 \| Squamous cell carcinoma \| 3 HP:0001369 \| Arthritis \| 3 HP:0002716 \| Lymph node hyperplasia \| 3 HP:0003473 \| Fatigable weakness \| 3 HP:0001945 \| Fever \| 3 HP:0010614 \| Fibroma \| 2 HP:0003765 \| Psoriasis \| 2 HP:0002890 \| Thyroid carcinoma \| 2 HP:0000716 \| Depression \| 2 HP:0002107 \| Collapsed lung \| 2 HP:0100244 \| Fibrosarcoma \| 2 HP:0002488 \| Acute leukemias \| 2 HP:0000131 \| Uterine leiomyoma \| 2 HP:0002863 \| Myelodysplastic syndrome \| 2 HP:0012578 \| Membranous glomerulonephritis \| 2 HP:0009733 \| Glioma \| 2 HP:0012490 \| Inflammation of fat tissue \| 2 HP:0000083 \| Renal insufficiency \| 2 HP:0100697 \| Neurofibrosarcoma \| 2 HP:0001875 \| Neutropenia \| 2 HP:0001903 \| Anemia \| 2 HP:0005523 \| Lymphoproliferative disorder \| 2 HP:0005214 \| Bowel obstruction \| 2 HP:0000099 \| Glomerular nephritis \| 2 HP:0002840 \| Lymphadenitis \| 2 HP:0030127 \| Endometriosis \| 2 HP:0003002 \| Breast carcinoma \| 2 HP:0002176 \| Spinal cord compression \| 2 HP:0001402 \| Hepatocellular carcinoma \| 1 HP:0200036 \| Skin nodule \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0009725 \| Bladder neoplasm \| 1 HP:0012218 \| Alveolar soft part sarcoma \| 1 HP:0007340 \| Lower limb weakness \| 1 HP:0012203 \| Onychomycosis \| 1 HP:0000956 \| Keratosis nigricans \| 1 HP:0003003 \| Colon cancer \| 1 HP:0100792 \| Acantholysis \| 1 HP:0002621 \| Atherosclerosis \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0001973 \| Autoimmune thrombocytopenia \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0100009 \| Intracranial meningioma \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0004820 \| Acute myelomonocytic leukemia \| 1 HP:0001394 \| Hepatic cirrhosis \| 1 HP:0100843 \| Glioblastoma \| 1 HP:0100647 \| Morbus Basedow \| 1 HP:0002583 \| Colitis \| 1 HP:0000952 \| Yellow skin \| 1 HP:0001045 \| Blotchy loss of skin color \| 1 HP:0100806 \| Sepsis \| 1 HP:0001047 \| Atopic dermatitis \| 1 HP:0000086 \| Ectopic kidney \| 1 HP:0001271 \| Polyneuropathy \| 1 HP:0002893 \| Pituitary adenoma \| 1 HP:0200034 \| Papule \| 1 HP:0100001 \| Malignant mesothelioma \| 1 HP:0005521 \| Disseminated intravascular coagulation \| 1 HP:0030061 \| Neuroectodermal neoplasm \| 1 HP:0100526 \| Neoplasm of the lung \| 1 HP:0001370 \| Rheumatoid arthritis \| 1 HP:0002242 \| Enteropathy \| 1 HP:0001907 \| Thromboembolic disease \| 1 HP:0011880 \| Acute disseminated intravascular coagulation \| 1 HP:0004736 \| Crossed fused renal ectopia \| 1 HP:0004315 \| IgG deficiency \| 1 HP:0001873 \| Low platelet count \| 1 HP:0002895 \| Papillary thyroid carcinoma \| 1 HP:0100008 \| Schwann cell tumour \| 1 HP:0012125 \| Prostate cancer \| 1 HP:0001880 \| Eosinophilia \| 1 HP:0030426 \| Ossifying fibroma \| 1 HP:0030692 \| Brain tumor \| 1 HP:0100033 \| Tic disorder \| 1 HP:0001337 \| Tremor \| 1 HP:0002754 \| Bone infection \| 1 HP:0030242 \| Blood clot in portal vein \| 1 HP:0001362 \| Cranial defect \| 1 HP:0001050 \| Plethora \| 1 HP:0030186 \| Essential tremor \| 1 HP:0003690 \| Limb weakness \| 1 HP:0000015 \| Bladder diverticula \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0002243 \| Protein-losing enteropathy \| 1 HP:0001541 \| Ascites \| 1 HP:0001055 \| Erysipelas \| 1 HP:0001251 \| Ataxia \| 1 HP:0100615 \| Neoplasm of the ovary \| 1 HP:0100279 \| Ulcerative colitis \| 1 HP:0012378 \| Fatigue \| 1 HP:0100570 \| Carcinoid tumor \| 1 HP:0040184 \| Oral hemorrhage \| 1 HP:0004845 \| Acute monoblastic leukemia \| 1 HP:0002108 \| Spontaneous pneumothorax \| 1 HP:0012288 \| Head and neck tumor \| 1 HP:0010550 \| Paraplegia \| 1 HP:0006721 \| Acute lymphocytic leukemia \| 1 HP:0001513 \| Obesity \| 1 HP:0002955 \| Granulomatosis \| 1 HP:0001298 \| Encephalopathy \| 1

Disease ID	643
Disease	soft tissue sarcoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:13) C0796095 \| c syndrome C0346976 \| pancreatic metastasis C0333516 \| tumour necrosis C0153690 \| bone metastases C0153678 \| pleural metastases C0153676 \| pulmonary metastasis C0153676 \| pulmonary metastases C0153676 \| lung metastasis C0153676 \| lung metastases C0040053 \| thrombosis C0023895 \| hepatopathy C0019080 \| hemorrhage C0002991 \| sclerosing hemangiomas
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:18) C0009450 \| infection \| 28 C0030193 \| pain \| 6 C0153676 \| lung metastases \| 5 C0153690 \| bone metastases \| 5 C0153676 \| lung metastasis \| 5 C0220650 \| brain metastasis \| 3 C0153676 \| pulmonary metastases \| 2 C0686619 \| lymph node metastases \| 2 C0153676 \| pulmonary metastasis \| 2 C0000889 \| acanthosis nigricans \| 1 C1332128 \| peritoneal carcinomatosis \| 1 C0040053 \| thrombosis \| 1 C1608408 \| malignant transformation \| 1 C0494165 \| liver metastases \| 1 C0017636 \| glioblastoma \| 1 C0019080 \| hemorrhage \| 1 C0220650 \| brain metastases \| 1 C0002991 \| sclerosing hemangiomas \| 1

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

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

All Snps(Total Genotypes:20)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1042522	22205265	7157	TP53	umls:C1261473	BeFree	The functional MDM2 T309G genetic variant but not P53 Arg72Pro polymorphism is associated with risk of sarcomas: a meta-analysis.	0.400032709	2012	TP53	17	7676154	G	T,C
rs1042522	22205265	4193	MDM2	umls:C1261473	BeFree	The functional MDM2 T309G genetic variant but not P53 Arg72Pro polymorphism is associated with risk of sarcomas: a meta-analysis.	0.038322962	2012	TP53	17	7676154	G	T,C
rs104886003	NA	5290	PIK3CA	umls:C1261473	CLINVAR	NA	0.241357209	NA	PIK3CA	3	179218303	G	A
rs113488022	21326296	673	BRAF	umls:C1261473	BeFree	Frequent somatic mutations of BRAF (v-raf murine sarcoma viral oncogene homolog B) exon T1799A, which are implicated in the initial events of promutagenic cellular proliferation, are detected in both malignant melanomas (MM) and melanocytic nevi (MN).	0.003800186	2011	BRAF	7	140753336	A	T,G,C
rs113488022	23909652	673	BRAF	umls:C1261473	BeFree	Vemurafenib, a selective BRAF (v-raf murine sarcoma viral oncogene homologue B1) kinase inhibitor, is a new targeted biotherapy that improves survival in patients with metastatic melanomas harbouring the BRAF V600E mutation.	0.003800186	2013	BRAF	7	140753336	A	T,G,C
rs113488022	21430505	673	BRAF	umls:C1261473	BeFree	To explore the mutation frequencies of BRAF(V600E) (V-raf murine sarcoma virus oncogene homolog B1) and NRAS (neuroblastoma ras viral oncogene homolog) codon 61 in CMNs of Chinese, we selected 55 paraffin-embedded tissue blocks, including 37 cases of medium CMNs (1.5-20cm) and 18 cases of giant CMNs (>20 cm).	0.003800186	2011	BRAF	7	140753336	A	T,G,C
rs113488022	25039578	673	BRAF	umls:C1261473	BeFree	BRAF (v-raf murine sarcoma viral oncogene homologue B) V600E mutations have been detected with high frequency in melanocytic naevi.	0.003800186	2014	BRAF	7	140753336	A	T,G,C
rs113488022	24527759	673	BRAF	umls:C1261473	BeFree	In many ERK1/2-dependent tumour cell lines, inhibition of BRAF(V600E) (v-raf murine sarcoma viral oncogene homologue B1, V600E mutation) or MEK1/2 (mitogen-activated protein kinase/ERK kinase 1/2) had very little effect on BIK expression, whereas BIM(EL) was strongly up-regulated.	0.003800186	2014	BRAF	7	140753336	A	T,G,C
rs113488022	16691193	673	BRAF	umls:C1261473	BeFree	To investigate whether the frequency of the BRAF(V600E) (V-raf murine sarcoma virus oncogene homolog B1) mutation in melanocytic nevi is associated with sun exposure patterns, we examined 120 acquired melanocytic nevi excised from various anatomic sites, including glabrous skin, as well as 62 congenital nevi.	0.003800186	2006	BRAF	7	140753336	A	T,G,C
rs113488022	24720374	673	BRAF	umls:C1261473	BeFree	Histiocytic sarcoma exhibited the highest rate of BRAF(V600E) (62.5%, five of eight), followed by Langerhans cell tumours (25%, seven of 28), FDC sarcoma (18.5%, five of 27) and giant cell tumour (6.7%, two of 30).	0.003800186	2014	BRAF	7	140753336	A	T,G,C
rs113488022	24117833	673	BRAF	umls:C1261473	BeFree	One melanoma-sarcoma pair showed identical BRAF V600E mutations.	0.003800186	2013	BRAF	7	140753336	A	T,G,C
rs11540652	NA	7157	TP53	umls:C1261473	CLINVAR	NA	0.400032709	NA	TP53	17	7674220	C	T
rs11540654	22205265	4193	MDM2	umls:C1261473	BeFree	The functional MDM2 T309G genetic variant but not P53 Arg72Pro polymorphism is associated with risk of sarcomas: a meta-analysis.	0.038322962	2012	TP53	17	7676040	C	T,G,A
rs11540654	22205265	7157	TP53	umls:C1261473	BeFree	The functional MDM2 T309G genetic variant but not P53 Arg72Pro polymorphism is associated with risk of sarcomas: a meta-analysis.	0.400032709	2012	TP53	17	7676040	C	T,G,A
rs121913254	23382236	6035	RNASE1	umls:C1261473	BeFree	We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1(N92I) mutant proteins.	0.000814326	2013	NRAS	1	114713909	G	T,C
rs121913254	23382236	4893	NRAS	umls:C1261473	BeFree	We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1(N92I) mutant proteins.	0.002909916	2013	NRAS	1	114713909	G	T,C
rs121913254	23382236	5879	RAC1	umls:C1261473	BeFree	We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1(N92I) mutant proteins.	0.000814326	2013	NRAS	1	114713909	G	T,C
rs1346044	18271933	7486	WRN	umls:C1261473	BeFree	Association of a missense single nucleotide polymorphism, Cys1367Arg of the WRN gene, with the risk of bone and soft tissue sarcomas in Japan.	0.005634266	2008	WRN;LOC105379359	8	31167138	T	C
rs17655	16646069	2073	ERCC5	umls:C1261473	BeFree	Our results raise the potential implication of the XPG Asp1104His polymorphism in the occurrence of chromosomal translocations associated with specific subtypes of sarcomas.	0.005634266	2006	ERCC5;BIVM-ERCC5	13	102875652	G	C
rs188957694	16166291	2099	ESR1	umls:C1261473	BeFree	The majority of spontaneous and DMBA-induced carcinomas and sarcomas from p53(R270H/+)WAPCre mice is estrogen receptor alpha positive, and expression profiles of genes also implicated in human breast cancer appear similarly altered.	0.000542884	2005	ESR1	6	151944218	G	A

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	643
Disease	soft tissue sarcoma
Case	(Waiting for update.)