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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   fibrosarcoma
  

Disease ID 656
Disease fibrosarcoma
Definition
A sarcoma derived from deep fibrous tissue, characterized by bundles of immature proliferating fibroblasts with variable collagen formation, which tends to invade locally and metastasize by the bloodstream. (Stedman, 25th ed)
Synonym
[m]fibrosarcoma nos
fibrosarcoma (excluding infantile fibrosarcoma)
fibrosarcoma (morphologic abnormality)
fibrosarcoma - not infantile
fibrosarcoma [disease/finding]
fibrosarcoma, malignant
fibrosarcoma, nos
fibrosarcomas
malignant fibromatous neoplasm
Orphanet
DOID
UMLS
C0016057
MeSH
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:17)
C1261473  |  sarcoma  |  3
C0024302  |  reticulum-cell sarcoma  |  1
C1261473  |  sarcomas  |  1
C0085110  |  severe combined immunodefic  |  1
C0221348  |  yellow nail syndrome  |  1
C0153676  |  lung metastasis  |  1
C0016045  |  fibroma  |  1
C0019348  |  herpes simplex  |  1
C0014145  |  yolk sac tumor  |  1
C0015645  |  fasciitis  |  1
C0024299  |  lymphoma  |  1
C0085110  |  severe combined immunodeficiency  |  1
C0346188  |  ovarian yolk sac tumor  |  1
C0013377  |  dysgerminoma  |  1
C0042769  |  virus infection  |  1
C0008487  |  chordoma  |  1
C0153676  |  lung metastases  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:5)
4763  |  NF1  |  CTD_human
1277  |  COL1A1  |  GHR
2120  |  ETV6  |  ORPHANET
5155  |  PDGFB  |  GHR
4916  |  NTRK3  |  ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:194)
23527  |  ACAP2  |  2.653  |  DISEASES
101  |  ADAM8  |  4.794  |  DISEASES
9255  |  AIMP1  |  2.753  |  DISEASES
238  |  ALK  |  1.75  |  DISEASES
249  |  ALPL  |  1.304  |  DISEASES
283  |  ANG  |  1.7  |  DISEASES
51378  |  ANGPT4  |  1.16  |  DISEASES
81611  |  ANP32E  |  1.869  |  DISEASES
347  |  APOD  |  2.014  |  DISEASES
369  |  ARAF  |  1.36  |  DISEASES
27237  |  ARHGEF16  |  2.656  |  DISEASES
170302  |  ARX  |  1.369  |  DISEASES
467  |  ATF3  |  1.083  |  DISEASES
468  |  ATF4  |  1.269  |  DISEASES
9529  |  BAG5  |  1.236  |  DISEASES
8678  |  BECN1  |  1.767  |  DISEASES
144453  |  BEST3  |  1.102  |  DISEASES
390259  |  BSX  |  1.31  |  DISEASES
800  |  CALD1  |  3.179  |  DISEASES
79823  |  CAMKMT  |  5.956  |  DISEASES
841  |  CASP8  |  1.517  |  DISEASES
842  |  CASP9  |  1.46  |  DISEASES
9332  |  CD163  |  1.347  |  DISEASES
960  |  CD44  |  2.228  |  DISEASES
942  |  CD86  |  1.506  |  DISEASES
9859  |  CEP170  |  1.987  |  DISEASES
9350  |  CER1  |  2.447  |  DISEASES
387836  |  CLEC2A  |  1.025  |  DISEASES
100272147  |  CMC4  |  2.153  |  DISEASES
51727  |  CMPK1  |  1.175  |  DISEASES
8738  |  CRADD  |  1.221  |  DISEASES
90993  |  CREB3L1  |  4.174  |  DISEASES
64764  |  CREB3L2  |  5.256  |  DISEASES
541466  |  CT45A1  |  1.147  |  DISEASES
1490  |  CTGF  |  1.003  |  DISEASES
1499  |  CTNNB1  |  1.709  |  DISEASES
1508  |  CTSB  |  2.185  |  DISEASES
1520  |  CTSS  |  1.056  |  DISEASES
2017  |  CTTN  |  1.605  |  DISEASES
1649  |  DDIT3  |  1.739  |  DISEASES
8528  |  DDO  |  2.451  |  DISEASES
4921  |  DDR2  |  1.149  |  DISEASES
168400  |  DDX53  |  2.902  |  DISEASES
26052  |  DNM3  |  1.048  |  DISEASES
55715  |  DOK4  |  1.538  |  DISEASES
11266  |  DUSP12  |  1.246  |  DISEASES
2009  |  EML1  |  1.112  |  DISEASES
64772  |  ENGASE  |  1.925  |  DISEASES
30816  |  ERVW-1  |  2.557  |  DISEASES
2120  |  ETV6  |  4.889  |  DISEASES
51513  |  ETV7  |  1.385  |  DISEASES
2130  |  EWSR1  |  3.582  |  DISEASES
2152  |  F3  |  2.295  |  DISEASES
2197  |  FAU  |  1.803  |  DISEASES
2192  |  FBLN1  |  1.295  |  DISEASES
2242  |  FES  |  1.058  |  DISEASES
2246  |  FGF1  |  1.554  |  DISEASES
2258  |  FGF13  |  1.677  |  DISEASES
2272  |  FHIT  |  1.425  |  DISEASES
2274  |  FHL2  |  1.294  |  DISEASES
2308  |  FOXO1  |  1.861  |  DISEASES
4303  |  FOXO4  |  3.986  |  DISEASES
2526  |  FUT4  |  1.034  |  DISEASES
2800  |  GOLGA1  |  2.095  |  DISEASES
257202  |  GPX6  |  1.029  |  DISEASES
23560  |  GTPBP4  |  1.093  |  DISEASES
3039  |  HBA1  |  1.929  |  DISEASES
3052  |  HCCS  |  2  |  DISEASES
3091  |  HIF1A  |  1.554  |  DISEASES
8349  |  HIST2H2BE  |  2.803  |  DISEASES
10362  |  HMG20B  |  1.954  |  DISEASES
8091  |  HMGA2  |  1.94  |  DISEASES
3161  |  HMMR  |  1.65  |  DISEASES
3320  |  HSP90AA1  |  1.784  |  DISEASES
3326  |  HSP90AB1  |  1.71  |  DISEASES
3309  |  HSPA5  |  1.916  |  DISEASES
3440  |  IFNA2  |  1.924  |  DISEASES
3456  |  IFNB1  |  1.671  |  DISEASES
3481  |  IGF2  |  1.362  |  DISEASES
3586  |  IL10  |  1.516  |  DISEASES
246778  |  IL27  |  1.697  |  DISEASES
3638  |  INSIG1  |  1.216  |  DISEASES
3716  |  JAK1  |  1.386  |  DISEASES
83700  |  JAM3  |  1.574  |  DISEASES
84502  |  JPH4  |  1.884  |  DISEASES
3725  |  JUN  |  2.684  |  DISEASES
3755  |  KCNG1  |  1.042  |  DISEASES
80333  |  KCNIP4  |  1.109  |  DISEASES
11004  |  KIF2C  |  3.191  |  DISEASES
9314  |  KLF4  |  1.15  |  DISEASES
11202  |  KLK8  |  1.227  |  DISEASES
3932  |  LCK  |  1.277  |  DISEASES
11155  |  LDB3  |  1.164  |  DISEASES
1902  |  LPAR1  |  1.092  |  DISEASES
23566  |  LPAR3  |  1.507  |  DISEASES
57121  |  LPAR5  |  1.467  |  DISEASES
23499  |  MACF1  |  1.089  |  DISEASES
4094  |  MAF  |  5.159  |  DISEASES
9935  |  MAFB  |  3.491  |  DISEASES
23764  |  MAFF  |  3.326  |  DISEASES
4097  |  MAFG  |  1.704  |  DISEASES
7975  |  MAFK  |  1.94  |  DISEASES
5609  |  MAP2K7  |  2.767  |  DISEASES
5599  |  MAPK8  |  2.606  |  DISEASES
4151  |  MB  |  2.806  |  DISEASES
4193  |  MDM2  |  2.733  |  DISEASES
4222  |  MEOX1  |  1.547  |  DISEASES
2315  |  MLANA  |  1.654  |  DISEASES
4311  |  MME  |  1.751  |  DISEASES
4312  |  MMP1  |  2.065  |  DISEASES
4318  |  MMP9  |  3.631  |  DISEASES
10198  |  MPHOSPH9  |  1.465  |  DISEASES
2475  |  MTOR  |  1.484  |  DISEASES
4585  |  MUC4  |  3.171  |  DISEASES
4599  |  MX1  |  1.395  |  DISEASES
4609  |  MYC  |  2.244  |  DISEASES
4637  |  MYL6  |  1.06  |  DISEASES
10763  |  NES  |  1.932  |  DISEASES
4780  |  NFE2L2  |  1.736  |  DISEASES
22861  |  NLRP1  |  1.045  |  DISEASES
4831  |  NME2  |  1.286  |  DISEASES
135935  |  NOBOX  |  1.263  |  DISEASES
10360  |  NPM3  |  1.609  |  DISEASES
8131  |  NPRL3  |  1.635  |  DISEASES
7182  |  NR2C2  |  1.183  |  DISEASES
4893  |  NRAS  |  2.446  |  DISEASES
4908  |  NTF3  |  2.197  |  DISEASES
4916  |  NTRK3  |  5.115  |  DISEASES
116150  |  NUS1  |  1.692  |  DISEASES
142  |  PARP1  |  1.205  |  DISEASES
5081  |  PAX7  |  1.71  |  DISEASES
5155  |  PDGFB  |  5.742  |  DISEASES
3651  |  PDX1  |  3.386  |  DISEASES
5230  |  PGK1  |  1.328  |  DISEASES
5320  |  PLA2G2A  |  1.088  |  DISEASES
5321  |  PLA2G4A  |  1.888  |  DISEASES
5325  |  PLAGL1  |  1.185  |  DISEASES
5328  |  PLAU  |  2.095  |  DISEASES
11243  |  PMF1  |  2.031  |  DISEASES
5447  |  POR  |  1.359  |  DISEASES
5456  |  POU3F4  |  1.826  |  DISEASES
11281  |  POU6F2  |  1.408  |  DISEASES
11105  |  PRDM7  |  2.497  |  DISEASES
5578  |  PRKCA  |  1.457  |  DISEASES
5738  |  PTGFRN  |  1.603  |  DISEASES
5747  |  PTK2  |  1.079  |  DISEASES
5788  |  PTPRC  |  1.775  |  DISEASES
5900  |  RALGDS  |  1.602  |  DISEASES
399  |  RHOH  |  1.736  |  DISEASES
6016  |  RIT1  |  1.865  |  DISEASES
6041  |  RNASEL  |  2.029  |  DISEASES
6091  |  ROBO1  |  1.073  |  DISEASES
6188  |  RPS3  |  1.13  |  DISEASES
349667  |  RTN4RL2  |  2.569  |  DISEASES
9853  |  RUSC2  |  2.133  |  DISEASES
5265  |  SERPINA1  |  2.414  |  DISEASES
12  |  SERPINA3  |  2.592  |  DISEASES
5270  |  SERPINE2  |  1.526  |  DISEASES
871  |  SERPINH1  |  1.24  |  DISEASES
27244  |  SESN1  |  1.193  |  DISEASES
153769  |  SH3RF2  |  2.396  |  DISEASES
55186  |  SLC25A36  |  1.951  |  DISEASES
6514  |  SLC2A2  |  1.102  |  DISEASES
9351  |  SLC9A3R2  |  1.019  |  DISEASES
6609  |  SMPD1  |  1.022  |  DISEASES
23583  |  SMUG1  |  1.644  |  DISEASES
6663  |  SOX10  |  1.988  |  DISEASES
6657  |  SOX2  |  1.675  |  DISEASES
11166  |  SOX21  |  1.594  |  DISEASES
6714  |  SRC  |  2.463  |  DISEASES
6736  |  SRY  |  1.35  |  DISEASES
6760  |  SS18  |  1.261  |  DISEASES
6756  |  SSX1  |  2.401  |  DISEASES
727837  |  SSX2B  |  2.595  |  DISEASES
10274  |  STAG1  |  4.192  |  DISEASES
10492  |  SYNCRIP  |  1.281  |  DISEASES
7018  |  TF  |  1.05  |  DISEASES
10618  |  TGOLN2  |  1.228  |  DISEASES
9967  |  THRAP3  |  1.695  |  DISEASES
7088  |  TLE1  |  1.834  |  DISEASES
7124  |  TNF  |  3.477  |  DISEASES
8784  |  TNFRSF18  |  1.347  |  DISEASES
7150  |  TOP1  |  1.095  |  DISEASES
7170  |  TPM3  |  1.61  |  DISEASES
80128  |  TRIM46  |  1.407  |  DISEASES
706  |  TSPO  |  1.316  |  DISEASES
7329  |  UBE2I  |  1.631  |  DISEASES
7371  |  UCK2  |  1.209  |  DISEASES
7422  |  VEGFA  |  2.935  |  DISEASES
7490  |  WT1  |  2.231  |  DISEASES
4904  |  YBX1  |  1.24  |  DISEASES
7525  |  YES1  |  1.473  |  DISEASES
285525  |  YIPF7  |  1.825  |  DISEASES
346171  |  ZFP57  |  1.042  |  DISEASES
Locus
Symbol | Locus(Total Locus:2)
ETV6  |  12p13.2
NTRK3  |  15q25.3
Disease ID 656
Disease fibrosarcoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:10)
HP:0002664  |  Neoplasia  |  12
HP:0100242  |  Sarcoma  |  3
HP:0005387  |  Combined immunodeficiency  |  1
HP:0100537  |  Inflammation of the fascia  |  1
HP:0010614  |  Fibroma  |  1
HP:0004430  |  Severe combined immunodeficiency  |  1
HP:0010762  |  Chordoma  |  1
HP:0100621  |  Dysgerminoma  |  1
HP:0002665  |  Lymphoma  |  1
HP:0002721  |  Immunodeficiency  |  1
Disease ID 656
Disease fibrosarcoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:13)
C1962974  |  chylothorax
C0856747  |  ascending aortic aneurysm
C0748355  |  acute respiratory distress
C0426768  |  o sign
C0153676  |  pulmonary metastasis
C0153676  |  pulmonary metastases
C0153676  |  lung metastases
C0022408  |  arthropathy
C0020473  |  hyperlipidemia
C0020305  |  hydrops fetalis
C0014145  |  yolk sac tumor
C0002874  |  aplastic anaemia
C0002793  |  anaplasia
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:2)
C0153676  |  lung metastases  |  1
C0014145  |  yolk sac tumor  |  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
rs11348802214500344673BRAFumls:C0016057BeFreeSimilar targeting of BRAF(V599E) or wild-type BRAF in human fibrosarcoma cells that lack the BRAF(V599E) mutation does not recapitulate these effects.0.0002714422003BRAF7140753336AT,G,C
rs121913499228852983417IDH1umls:C0016057BeFreeHere, using a genetically engineered inducible system, we report that selective suppression of endogenous mutant IDH1 expression in HT1080, a fibrosarcoma cell line with a native IDH1(R132C) heterozygous mutation, significantly inhibits cell proliferation and decreases clonogenic potential.0.0002714422012IDH12208248389GT,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 656
Disease fibrosarcoma
Case(Waiting for update.)