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MCID: END031
MIFTS: 52

Endometrial Stromal Sarcoma

Categories: Rare diseases, Reproductive diseases, Cancer diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Endometrial Stromal Sarcoma

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MalaCards integrated aliases for Endometrial Stromal Sarcoma:

Name: Endometrial Stromal Sarcoma 12 76 53 59 15 73
Ess 12 53
Endometrial Stromal Sarcoma, High Grade 12
Undifferentiated Endometrial Sarcoma 12
Stromal Sarcoma of the Corpus Uteri 59
Undifferentiated Stromal Sarcoma 73
Sarcoma, Endometrial Stromal 44
Sarcoma Endometrial Stromal 55

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Reproductive diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare gynaecological and obstetric diseases


External Ids:

Disease Ontology 12 DOID:4226
MeSH 44 D018203
NCIt 50 C8973
SNOMED-CT 68 699356008 70555003
Orphanet 59 ORPHA213711
MESH via Orphanet 45 D018203
UMLS via Orphanet 74 C0206630
ICD10 via Orphanet 34 C54.1
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Summaries for Endometrial Stromal Sarcoma

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NIH Rare Diseases : 53 Endometrial stromal sarcoma is a rare form of cancer that occurs due to abnormal and uncontrolled cell growth in the uterus. Endometrial stromal sarcoma, specifically, develops in the supporting connective tissue (stroma) of the uterus. Signs and symptoms of the condition include abnormal uterine bleeding (i.e. bleeding that is not part of menstrual periods or bleeding after menopause); abdominal pain and/or distension; and frequent urination. The exact underlying cause of endometrial stromal sarcoma is currently unknown. Most cases occur sporadically in people with no family history of the condition. Treatment varies based on the severity of the condition but may include surgery, radiation therapy, chemotherapy, and/or hormone therapy.

MalaCards based summary : Endometrial Stromal Sarcoma, also known as ess, is related to endometriosis and endometrial stromal nodule. An important gene associated with Endometrial Stromal Sarcoma is SUZ12 (SUZ12, Polycomb Repressive Complex 2 Subunit), and among its related pathways/superpathways are Striated Muscle Contraction and Regulation of Telomerase. The drugs Lenograstim and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include uterus, smooth muscle and lung, and related phenotypes are cardiovascular system and cellular

Wikipedia : 76 Endometrial stromal sarcoma is a malignant subtype of endometrial stromal tumor arising from the stroma... more...

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Related Diseases for Endometrial Stromal Sarcoma

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Diseases related to Endometrial Stromal Sarcoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 183)
# Related Disease Score Top Affiliating Genes
1 endometriosis 32.2 CYP19A1 ESR1 PGR
2 endometrial stromal nodule 31.7 BCOR CYP19A1 JAZF1 MEAF6 MME NUTM2A
3 intravenous leiomyomatosis 31.6 DES ESR1 MME
4 myoma 31.4 CYP19A1 ESR1 PGR
5 lymphangioleiomyomatosis 31.4 DES ESR1 PGR
6 endometriosis of ovary 31.3 CYP19A1 ESR1 PGR
7 uterine carcinosarcoma 31.3 KIT MME PGR
8 ossifying fibromyxoid tumor 31.3 ACTC1 DES VIM
9 leiomyosarcoma 31.2 ACTC1 DES KIT MB PGR VIM
10 smooth muscle tumor 31.2 ACTC1 DES ESR1 KIT PGR VIM
11 myxoid leiomyosarcoma 31.1 ACTC1 BCOR PGR YWHAE
12 endometrial adenocarcinoma 31.1 ESR1 MALAT1 PGR
13 adenofibroma 30.9 ACTC1 INHA MME VIM
14 uterine sarcoma 30.7 CYP19A1 DES ESR1 KIT MB MME
15 leiomyoma 30.6 ACTC1 CYP19A1 DES ESR1 KIT MME
16 renal cell carcinoma, nonpapillary 30.4 KIT MALAT1 MME VIM
17 uterine corpus endometrial stromal sarcoma 12.2
18 cervical endometrial stromal sarcoma 12.2
19 vaginal endometrial stromal sarcoma 12.2
20 empty sella syndrome 11.6
21 sarcoma 11.2
22 vulvar syringoma 11.2 ESR1 PGR
23 lung leiomyoma 11.2 ESR1 PGR
24 infantile digital fibromatosis 11.2 DES VIM
25 vestibular gland benign neoplasm 11.2 ESR1 PGR
26 bartholin's gland adenoma 11.2 ESR1 PGR
27 glassy cell carcinoma of the cervix 11.2 ESR1 PGR
28 breast myofibroblastoma 11.1 ESR1 MME
29 lymphangiectasis 11.1 ACTC1 VIM
30 vulvar benign neoplasm 11.1 ESR1 PGR
31 trigonitis 11.1 ESR1 PGR
32 vulvar leiomyoma 11.1 ESR1 PGR
33 lymphangiomatosis 11.1 DES PGR VIM
34 calcifying aponeurotic fibroma 11.1 ACTC1 PGR
35 fibroblastic rheumatism 11.1 ACTC1 DES
36 epulis 11.1 DES PGR VIM
37 progesterone-receptor positive breast cancer 11.1 CYP19A1 ESR1 PGR
38 gender identity disorder 11.1 CYP19A1 ESR1 PGR
39 estrogen excess 11.1 CYP19A1 ESR1 PGR
40 mammographic density 11.1 CYP19A1 ESR1 PGR
41 primitive neuroectodermal tumor of the cervix uteri 11.1 DES VIM
42 cervical carcinosarcoma 11.1 ESR1 MME PGR
43 endometrial mucinous adenocarcinoma 11.1 ESR1 PGR VIM
44 angiolipoma 11.1 ACTC1 DES VIM
45 congenital epulis 11.1 DES PGR VIM
46 spindle cell lipoma 11.0 ACTC1 DES VIM
47 parachordoma 11.0 ACTC1 DES VIM
48 breast benign neoplasm 11.0 ESR1 MME PGR
49 thoracic benign neoplasm 11.0 ESR1 MME PGR
50 epithelioid leiomyosarcoma 11.0 ACTC1 DES VIM

Graphical network of the top 20 diseases related to Endometrial Stromal Sarcoma:



Diseases related to Endometrial Stromal Sarcoma
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Symptoms & Phenotypes for Endometrial Stromal Sarcoma

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MGI Mouse Phenotypes related to Endometrial Stromal Sarcoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.15 ACTC1 BCOR CCND1 CYP19A1 DES ESR1
2 cellular MP:0005384 10.1 CCND1 CYP19A1 DES ESR1 KIT MB
3 hematopoietic system MP:0005397 9.96 MB PGR SUZ12 VIM BCOR CCND1
4 homeostasis/metabolism MP:0005376 9.93 ACTC1 CCND1 CYP19A1 DES ESR1 INHA
5 mortality/aging MP:0010768 9.73 ACTC1 BCOR CCND1 DES ESR1 INHA
6 muscle MP:0005369 9.28 ACTC1 CYP19A1 DES ESR1 KIT MB
Sources

Drugs & Therapeutics for Endometrial Stromal Sarcoma

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Drugs for Endometrial Stromal Sarcoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 3 135968-09-1
2
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
3
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
4
Ifosfamide Approved Phase 3 3778-73-2 3690
5
Cyproheptadine Approved Phase 3 129-03-3 2913
6
Histamine Approved, Investigational Phase 3 75614-87-8, 51-45-6 774
7
Doxil Approved June 1999 Phase 3,Phase 2 31703
8 Alkylating Agents Phase 3,Phase 2
9 Antineoplastic Agents, Alkylating Phase 3,Phase 2
10
Isophosphamide mustard Phase 3 0
11 Gastrointestinal Agents Phase 3,Phase 2
12 Topoisomerase Inhibitors Phase 3,Phase 2
13 Anti-Bacterial Agents Phase 3,Phase 2
14 Antibiotics, Antitubercular Phase 3,Phase 2
15
Histamine Phosphate Phase 3 51-74-1 65513
16 Serotonin Agents Phase 3
17 Serotonin Antagonists Phase 3
18 Neurotransmitter Agents Phase 3
19 Histamine Antagonists Phase 3
20 Histamine H1 Antagonists Phase 3
21 Dermatologic Agents Phase 3
22 Anti-Allergic Agents Phase 3
23 Antipruritics Phase 3
24
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
25
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166
26
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
27
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
28
Mifepristone Approved, Investigational Phase 2 84371-65-3 55245
29
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
30
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
31
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
32
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
33
nivolumab Approved Phase 2 946414-94-4
34
Saracatinib Investigational Phase 2 379231-04-6
35
Trebananib Investigational Phase 2 894356-79-7
36 Dexamethasone acetate Phase 2 1177-87-3
37 Imatinib Mesylate Phase 1, Phase 2,Phase 2 220127-57-1 123596
38 glucocorticoids Phase 2
39
protease inhibitors Phase 2
40 Albumin-Bound Paclitaxel Phase 2
41 Contraceptive Agents Phase 2
42 Contraceptives, Oral Phase 2
43 Contraceptives, Postcoital Phase 2
44 Cortisol succinate Phase 2
45 HIV Protease Inhibitors Phase 2
46 Hormone Antagonists Phase 2
47 Angiogenesis Inhibitors Phase 2
48 Hormones Phase 2
49 Angiogenesis Modulating Agents Phase 2
50 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Radiation Therapy or No Further Treatment Following Surgery in Treating Patients With Cancer of the Uterus Completed NCT00002459 Phase 3
2 Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma Completed NCT00002764 Phase 3 doxorubicin hydrochloride;ifosfamide
3 Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
4 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
5 Temozolomide in Treating Patients With Advanced Soft Tissue Sarcoma Unknown status NCT00003718 Phase 2 temozolomide
6 Medical Safety Follow-up Study for Patients Who Received More Than 28 Days of Total Exposure to BGG492 Completed NCT02150213 Phase 2 BGG492
7 Mifepristone for Patients With Endometrial Cancer and LGESS Completed NCT00505739 Phase 2 Mifepristone
8 Chemotherapy in Treating Patients With Sarcoma of the Uterus Completed NCT00005643 Phase 2 pegylated liposomal doxorubicin hydrochloride
9 AZD0530 in Treating Patients With Recurrent Locally Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00659360 Phase 2 saracatinib
10 BI 2536 in Treating Patients With Recurrent or Metastatic Solid Tumors Completed NCT00526149 Phase 2 BI 2536
11 Sunitinib in Treating Patients With Metastatic, Locally Advanced, or Locally Recurrent Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
12 Ecteinascidin 743 in Treating Patients With Advanced Soft Tissue Sarcoma Completed NCT00003939 Phase 2 trabectedin
13 STI571 in Treating Patients With Recurrent or Refractory Soft Tissue Sarcoma Completed NCT00006357 Phase 1, Phase 2 imatinib mesylate
14 Combination Chemotherapy in Treating Patients With Endometrial Cancer, Fallopian Tube Cancer, or Sarcoma of the Female Reproductive Tract Completed NCT00003334 Phase 2 paclitaxel;pegylated liposomal doxorubicin hydrochloride
15 Perifosine in Treating Patients With Metastatic or Locally Advanced Soft Tissue Sarcoma Completed NCT00053794 Phase 2 perifosine
16 Thalidomide in Treating Patients With Gynecologic Sarcomas Completed NCT00006005 Phase 2 thalidomide
17 Trebananib in Treating Patients With Persistent or Recurrent Endometrial Cancer Completed NCT01210222 Phase 2
18 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
19 A Study of Nivolumab in Selected Uterine Cancer Patients Recruiting NCT03241745 Phase 2 Nivolumab
20 A Phase II of Nivolumab Plus Ipilimumab in Non-resectable Sarcoma and Endometrial Carcinoma Not yet recruiting NCT02982486 Phase 2 Ipilimumab;Nivolumab
21 Collecting Tumor Samples From Patients With Gynecological Tumors Completed NCT00897442

Search NIH Clinical Center for Endometrial Stromal Sarcoma

Cochrane evidence based reviews: sarcoma, endometrial stromal

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Genetic Tests for Endometrial Stromal Sarcoma

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Anatomical Context for Endometrial Stromal Sarcoma

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MalaCards organs/tissues related to Endometrial Stromal Sarcoma:

41
Uterus, Smooth Muscle, Lung, Colon, Ovary, Breast, Heart
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Publications for Endometrial Stromal Sarcoma

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Articles related to Endometrial Stromal Sarcoma:

(show top 50) (show all 507)
# Title Authors Year
1
Hepatic endometrial stromal sarcoma. ( 29843927 )
2018
2
A remarkable response to pazopanib, despite recurrent liver toxicity, in a patient with a high grade endometrial stromal sarcoma, a case report. ( 29357824 )
2018
3
Recurrence after fertility-preserving surgery for low-grade endometrial stromal sarcoma. ( 29974555 )
2018
4
Endometrial Stromal Sarcoma With Hyalinizing Giant Rosettes, Mimicking Low-Grade Fibromyxoid Sarcoma. ( 29623744 )
2018
5
Adjuvant Hormonal Therapy for Low-Grade Endometrial Stromal Sarcoma. ( 29843577 )
2018
6
Morphological and immunohistochemical diversity of endometrial stromal sarcoma in rats. ( 29749998 )
2018
7
Gene expression profiling of low-grade endometrial stromal sarcoma indicates fusion protein-mediated activation of the Wnt signaling pathway. ( 29544705 )
2018
8
Investigation of hormone receptor expression and its prognostic value in endometrial stromal sarcoma. ( 29869299 )
2018
9
Impact of oophorectomy and hormone suppression in low grade endometrial stromal sarcoma: A multicenter review. ( 29534832 )
2018
10
Molecular biomarkers for uterine leiomyosarcoma and endometrial stromal sarcoma. ( 29660202 )
2018
11
Immunohistochemical Expression of Different Subtypes of Cytokeratins by Endometrial Stromal Sarcoma. ( 29406332 )
2018
12
Treatment of low-grade endometrial stromal sarcoma in a nulligravid woman. ( 29887484 )
2018
13
Identification of an <i>EPC2-PHF1</i> fusion transcript in low-grade endometrial stromal sarcoma. ( 29721194 )
2018
14
BCOR is a robust diagnostic immunohistochemical marker of genetically diverse high-grade endometrial stromal sarcoma, including tumors exhibiting variant morphology. ( 28621321 )
2017
15
Magnetic resonance imaging features of endometrial stromal sarcoma: a case description. ( 28275572 )
2017
16
Androgen Receptor Expression in Endometrial Stromal Sarcoma: Correlation With Clinicopathologic Features. ( 28114189 )
2017
17
A recurrent endometrial stromal sarcoma harbors the novel fusion JAZF1-BCORL1. ( 28331900 )
2017
18
Cardiac metastatic endometrial stromal sarcoma 17 years after hysterectomy. ( 28967156 )
2017
19
Oncogenic HrasG12V expression plus knockdown of Cdkn2a using ecotropic lentiviral vectors induces high-grade endometrial stromal sarcoma. ( 28982163 )
2017
20
Primary low-grade endometrial stromal sarcoma arising in the vagina: report of an unusual case and literature review. ( 29218216 )
2017
21
Endometrial Stromal Sarcoma of the Uterus: Magnetic Resonance Imaging Findings Including Apparent Diffusion Coefficient Value and Its Correlation With Ki-67 Expression. ( 28906310 )
2017
22
Clinicopathological characteristics and treatment strategies for patients with low-grade endometrial stromal sarcoma. ( 28403089 )
2017
23
Endometrial stromal sarcoma-A retropsective analysis of factors affecting recurrence. ( 28738297 )
2017
24
A Rare Collision Tumour of Uterus- Squamous Cell Carcinoma and Endometrial Stromal Sarcoma. ( 28384878 )
2017
25
Low-grade endometrial stromal sarcoma with extensive sex cord differentiation, heterologous elements, and complex atypical hyperplasia: Case report and review of literature. ( 28054022 )
2017
26
Low-grade and high-grade endometrial stromal sarcoma: A National Cancer Database study. ( 28596015 )
2017
27
YWHAE Rearrangement in a Purely Conventional Low-grade Endometrial Stromal Sarcoma that Transformed Over Time to High-grade Sarcoma: Importance of Molecular Testing. ( 28863072 )
2017
28
YWHAE-rearranged high-grade endometrial stromal sarcoma: Two-center case series and response to chemotherapy. ( 28390819 )
2017
29
Fusion of the genes BRD8 and PHF1 in endometrial stromal sarcoma. ( 28758277 )
2017
30
Primary low-grade endometrial stromal sarcoma of the omentum. ( 28831418 )
2017
31
Primary extragenital endometrial stromal sarcoma of the lung: first reported case and review of literature. ( 28464838 )
2017
32
An unexpected diagnosis of primary omental endometrial stromal sarcoma in a patient with acute right abdominal pain: A case report and review of literature. ( 28494324 )
2017
33
Extrauterine, Extragenital Endometrial Stromal Sarcoma in the Absence of Endometriosis: A Rare Entity. ( 29210799 )
2017
34
Endometrial stromal sarcoma in combination with mixed type endometrial carcinomas: A case report and literature review. ( 29245257 )
2017
35
Fertility-sparing surgery for patients with low-grade endometrial stromal sarcoma. ( 27736798 )
2016
36
Prolonged response to exemestane following multiple surgical resections and hormonal therapies in a patient with recurrent endometrial stromal sarcoma. ( 26937477 )
2016
37
Low-Grade Endometrial Stromal Sarcoma with Intravenous and Intracardiac Extension: A Multidisciplinary Approach. ( 27239357 )
2016
38
Intravenous low-grade endometrial stromal sarcoma with intracardiac extension: A CASE OF inaccurate tumor location on contrast-enhanced computed tomography. ( 26893856 )
2016
39
Immunohistochemical Characterization of Histone Deacetylase as a Potential Prognostic Marker and Therapeutic Target in Endometrial Stromal Sarcoma. ( 27127168 )
2016
40
Endometrial stromal sarcoma: An aggressive uterine malignancy. ( 27761197 )
2016
41
The application of next generation-sequencing-based molecular diagnostics in endometrial stromal sarcoma. ( 26990025 )
2016
42
An Unusual Case of YWHAE-NUTM2A/B Endometrial Stromal Sarcoma With Confinement to the Endometrium and Lack of High-Grade Morphology. ( 27171540 )
2016
43
A case of advanced-stage endometrial stromal sarcoma of the ovary arising from endometriosis. ( 27462602 )
2016
44
Endometrial Stromal Sarcoma Arising in Colorectal Endometriosis. ( 27801759 )
2016
45
Endobronchial metastasised endometrial stromal sarcoma. ( 26643114 )
2016
46
Uterine sarcoma Part II-Uterine endometrial stromal sarcoma: The TAG systematic review. ( 27590366 )
2016
47
Letrozole as second-line hormonal treatment for recurrent low-grade endometrial stromal sarcoma: A case report and review of the literature. ( 27895740 )
2016
48
Cytogenetic and Molecular Profile of Endometrial Stromal Sarcoma. ( 27219024 )
2016
49
Novel High-grade Endometrial Stromal Sarcoma: A Morphologic Mimicker of Myxoid Leiomyosarcoma. ( 27631520 )
2016
50
Uterine leiomyosarcoma and endometrial stromal sarcoma have unique miRNA signatures. ( 26768834 )
2016
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Variations for Endometrial Stromal Sarcoma

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Expression for Endometrial Stromal Sarcoma

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Search GEO for disease gene expression data for Endometrial Stromal Sarcoma.
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Pathways for Endometrial Stromal Sarcoma

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Pathways related to Endometrial Stromal Sarcoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Striated Muscle Contraction 1 66
11.36 ACTC1 DES VIM
2
Regulation of Telomerase 1
11.25 CCND1 ESR1 YWHAE
3
Signaling events mediated by HDAC Class II 1
10.66 BCOR ESR1 YWHAE
4
Ovarian Infertility Genes 1
10.3 CYP19A1 INHA PGR
5
Aromatase Inhibitor Pathway (Breast Cell), Pharmacodynamics 61
9.76 CYP19A1 ESR1
Sources

GO Terms for Endometrial Stromal Sarcoma

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Biological processes related to Endometrial Stromal Sarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 androgen metabolic process GO:0008209 9.4 CYP19A1 ESR1
2 mammary gland alveolus development GO:0060749 9.37 CCND1 ESR1
3 male gonad development GO:0008584 9.33 ESR1 INHA KIT
4 intermediate filament organization GO:0045109 9.32 DES VIM
5 uterus development GO:0060065 9.26 CYP19A1 ESR1
6 positive regulation of phospholipase C activity GO:0010863 8.96 ESR1 KIT
7 muscle filament sliding GO:0030049 8.8 ACTC1 DES VIM

Molecular functions related to Endometrial Stromal Sarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone deacetylase binding GO:0042826 8.8 BCOR CCND1 YWHAE
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Sources for Endometrial Stromal Sarcoma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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