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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   endometrial stromal sarcoma
  

Disease ID 992
Disease endometrial stromal sarcoma
Definition
A highly malignant subset of neoplasms arising from the endometrial stroma. Tumors in this group infiltrate the stroma with a wide range of atypia cells and numerous mitoses. They are capable of widespread metastases (NEOPLASM METASTASIS).
Synonym
endometrial sarcoma
endometrial sarcoma, nos
endometrial stromal sarcoma (disorder)
endometrial stromal sarcomas
endometrioid stromal sarcoma
ess
primary malignant stromal sarcoma of endometrium
sarcoma endometrium
sarcoma stromal
sarcoma, endometrial stromal
sarcoma, endometrial stromal [disease/finding]
sarcomas, endometrial stromal
stromal sarcoma
stromal sarcoma, endometrial
stromal sarcoma, endometrial, malignant
stromal sarcoma, nos
stromal sarcomas, endometrial
Orphanet
DOID
UMLS
C0206630
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:18)
C0001418  |  adenocarcinoma  |  4
C1261473  |  sarcoma  |  2
C0014175  |  endometriosis  |  2
C0018206  |  granulosa cell tumors  |  1
C1704273  |  endometrial polyp  |  1
C0023267  |  leiomyoma  |  1
C0206644  |  fibrous histiocytoma  |  1
C0042133  |  uterine leiomyoma  |  1
C0153676  |  lung metastasis  |  1
C0334463  |  malignant fibrous histiocytoma  |  1
C0338113  |  uterine sarcoma  |  1
C1261473  |  sarcomas  |  1
C1509147  |  histiocytoma  |  1
C0948303  |  peritoneal carcinoma  |  1
C0341858  |  adenomyosis  |  1
C1153706  |  adenocarcinoma of the uterus  |  1
C0029925  |  carcinoma of ovary  |  1
C0018206  |  granulosa cell tumor  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:5)
221895  |  JAZF1  |  ORPHANET
7531  |  YWHAE  |  ORPHANET
23512  |  SUZ12  |  ORPHANET
729262  |  NUTM2B  |  ORPHANET
728118  |  NUTM2A  |  ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:116)
265  |  AMELX  |  2.255  |  DISEASES
55107  |  ANO1  |  1.544  |  DISEASES
25820  |  ARIH1  |  2.826  |  DISEASES
489  |  ATP2A3  |  1.632  |  DISEASES
553  |  AVPR1B  |  2.146  |  DISEASES
54880  |  BCOR  |  3.308  |  DISEASES
655  |  BMP7  |  1.075  |  DISEASES
656  |  BMP8B  |  1.48  |  DISEASES
51297  |  BPIFA1  |  1.093  |  DISEASES
2972  |  BRF1  |  1.836  |  DISEASES
54964  |  C1orf56  |  2.167  |  DISEASES
800  |  CALD1  |  4.556  |  DISEASES
23607  |  CD2AP  |  1.601  |  DISEASES
1029  |  CDKN2A  |  2.196  |  DISEASES
1041  |  CDSN  |  1.87  |  DISEASES
1132  |  CHRM4  |  1.99  |  DISEASES
1133  |  CHRM5  |  2.491  |  DISEASES
1154  |  CISH  |  2.467  |  DISEASES
161198  |  CLEC14A  |  2.451  |  DISEASES
283971  |  CLEC18C  |  2.47  |  DISEASES
10106  |  CTDSP2  |  1.929  |  DISEASES
115908  |  CTHRC1  |  1.465  |  DISEASES
1499  |  CTNNB1  |  1.081  |  DISEASES
56259  |  CTNNBL1  |  2.804  |  DISEASES
340602  |  CXorf67  |  3.763  |  DISEASES
100288687  |  DUX4  |  1.129  |  DISEASES
653545  |  DUX4L5  |  1.129  |  DISEASES
1982  |  EIF4G2  |  1.587  |  DISEASES
104355217  |  ERICD  |  3.329  |  DISEASES
2098  |  ESD  |  2.405  |  DISEASES
132884  |  EVC2  |  1.101  |  DISEASES
2130  |  EWSR1  |  1.331  |  DISEASES
2170  |  FABP3  |  1.21  |  DISEASES
113828  |  FAM83F  |  3.34  |  DISEASES
2317  |  FLNB  |  1.06  |  DISEASES
5348  |  FXYD1  |  1.836  |  DISEASES
8323  |  FZD6  |  1.56  |  DISEASES
26088  |  GGA1  |  2.192  |  DISEASES
3039  |  HBA1  |  1.338  |  DISEASES
3065  |  HDAC1  |  1.118  |  DISEASES
55733  |  HHAT  |  1.172  |  DISEASES
3178  |  HNRNPA1  |  2.692  |  DISEASES
3185  |  HNRNPF  |  1.97  |  DISEASES
3187  |  HNRNPH1  |  1.618  |  DISEASES
3190  |  HNRNPK  |  1.02  |  DISEASES
9456  |  HOMER1  |  1.285  |  DISEASES
11255  |  HRH3  |  1.114  |  DISEASES
8519  |  IFITM1  |  2.211  |  DISEASES
9452  |  ITM2A  |  2.607  |  DISEASES
3709  |  ITPR2  |  1.575  |  DISEASES
3710  |  ITPR3  |  1.085  |  DISEASES
3713  |  IVL  |  2.155  |  DISEASES
57158  |  JPH2  |  1.241  |  DISEASES
157855  |  KCNU1  |  2.746  |  DISEASES
2531  |  KDSR  |  2.651  |  DISEASES
8570  |  KHSRP  |  1.713  |  DISEASES
3880  |  KRT19  |  1.016  |  DISEASES
3851  |  KRT4  |  1.288  |  DISEASES
131578  |  LRRC15  |  1.923  |  DISEASES
23542  |  MAPK8IP2  |  1.103  |  DISEASES
4148  |  MATN3  |  1.05  |  DISEASES
4151  |  MB  |  1.989  |  DISEASES
54799  |  MBTD1  |  3.518  |  DISEASES
64769  |  MEAF6  |  5.054  |  DISEASES
4311  |  MME  |  4.961  |  DISEASES
22823  |  MTF2  |  2.296  |  DISEASES
8260  |  NAA10  |  1.239  |  DISEASES
89797  |  NAV2  |  3.187  |  DISEASES
58484  |  NLRC4  |  1.638  |  DISEASES
283869  |  NPW  |  2.07  |  DISEASES
8013  |  NR4A3  |  2.02  |  DISEASES
64359  |  NXN  |  1.836  |  DISEASES
84876  |  ORAI1  |  1.003  |  DISEASES
55742  |  PARVA  |  5.063  |  DISEASES
5094  |  PCBP2  |  2.656  |  DISEASES
5241  |  PGR  |  3.68  |  DISEASES
5252  |  PHF1  |  4.803  |  DISEASES
11187  |  PKP3  |  1.984  |  DISEASES
5324  |  PLAG1  |  1.163  |  DISEASES
5367  |  PMCH  |  1.079  |  DISEASES
11201  |  POLI  |  3.659  |  DISEASES
5672  |  PSG4  |  2.633  |  DISEASES
5673  |  PSG5  |  3.021  |  DISEASES
51715  |  RAB23  |  1.593  |  DISEASES
1104  |  RCC1  |  1.321  |  DISEASES
7955  |  RNF217-AS1  |  1.214  |  DISEASES
6229  |  RPS24  |  1.433  |  DISEASES
6279  |  S100A8  |  1.035  |  DISEASES
84324  |  SARNP  |  2.271  |  DISEASES
6337  |  SCNN1A  |  1.453  |  DISEASES
6318  |  SERPINB4  |  1.221  |  DISEASES
10864  |  SLC22A7  |  1.431  |  DISEASES
9376  |  SLC22A8  |  1.094  |  DISEASES
57835  |  SLC4A5  |  2.256  |  DISEASES
6547  |  SLC8A3  |  1.702  |  DISEASES
6594  |  SMARCA1  |  3.543  |  DISEASES
6597  |  SMARCA4  |  2.25  |  DISEASES
8651  |  SOCS1  |  2.261  |  DISEASES
8835  |  SOCS2  |  2.651  |  DISEASES
9021  |  SOCS3  |  1.838  |  DISEASES
122809  |  SOCS4  |  1.92  |  DISEASES
9306  |  SOCS6  |  1.441  |  DISEASES
6714  |  SRC  |  1.209  |  DISEASES
6428  |  SRSF3  |  2.449  |  DISEASES
6760  |  SS18  |  2.066  |  DISEASES
727837  |  SSX2B  |  1.519  |  DISEASES
55775  |  TDP1  |  1.355  |  DISEASES
7046  |  TGFBR1  |  2.883  |  DISEASES
51337  |  THEM6  |  1.462  |  DISEASES
7088  |  TLE1  |  2.654  |  DISEASES
140803  |  TRPM6  |  1.338  |  DISEASES
7490  |  WT1  |  1.75  |  DISEASES
11060  |  WWP2  |  1.787  |  DISEASES
51067  |  YARS2  |  1.788  |  DISEASES
404281  |  YY2  |  3.027  |  DISEASES
29066  |  ZC3H7A  |  4.196  |  DISEASES
Locus
Symbol | Locus(Total Locus:5)
JAZF1  |  7p15.2-p15.1
SUZ12  |  17q11.2
NUTM2A  |  10q23.2
NUTM2B  |  10q22.3
YWHAE  |  17p13.3
Disease ID 992
Disease endometrial stromal sarcoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:7)
HP:0002664  |  Neoplasia  |  3
HP:0030127  |  Endometriosis  |  2
HP:0100242  |  Sarcoma  |  2
HP:0000718  |  Aggressive behaviour  |  1
HP:0012531  |  Pain  |  1
HP:0012315  |  Histiocytoma  |  1
HP:0000131  |  Uterine leiomyoma  |  1
Disease ID 992
Disease endometrial stromal sarcoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:2)
C0153676  |  pulmonary metastasis
C0153676  |  pulmonary metastases
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:0)
(Waiting for update.)
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 992
Disease endometrial stromal sarcoma
Case(Waiting for update.)