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ASPS
MCID: ALV005
MIFTS: 61

Alveolar Soft Part Sarcoma (ASPS)

Categories: Cancer diseases, Genetic diseases, Muscle diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Alveolar Soft Part Sarcoma

About this section

MalaCards integrated aliases for Alveolar Soft Part Sarcoma:

Name: Alveolar Soft Part Sarcoma 57 12 74 20 58 36 29 15 17 71
Asps 57 20 58
Sarcoma, Alveolar Soft Part 44 39
Alveolar Soft-Part Sarcoma 57 13
Childhood Alveolar Soft-Part Sarcoma 71
Adult Alveolar Soft-Part Sarcoma 71
Alveolar Soft Tissue Sarcoma 58
Sarcoma Alveolar Soft Part 54

Characteristics:

Orphanet epidemiological data:

58
alveolar soft tissue sarcoma
Age of onset: All ages;

HPO:

31
alveolar soft part sarcoma:
Inheritance somatic mutation


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:4239
OMIM® 57 606243
KEGG 36 H00051
MeSH 44 D018234
SNOMED-CT 67 88195001
MESH via Orphanet 45 D018234
ICD10 via Orphanet 33 C49.9
UMLS via Orphanet 72 C0206657
Orphanet 58 ORPHA163699
MedGen 41 C0206657
SNOMED-CT via HPO 68 124975008 404056007
UMLS 71 C0206657 C0279544 C0279985
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Summaries for Alveolar Soft Part Sarcoma

About this section
GARD : 20 Alveolar soft part sarcoma (ASPS) is a rare, slow-growing soft tissue sarcoma. Although it has been described in a variety of locations, it most commonly develops on the lower extremities in adults and in the head and neck region of children. ASPS generally presents as a soft, pain-less lump that is often not associated with any additional signs and symptoms. In many cases, the condition is not diagnosed until the affected person develops symptoms of metastasis to other sites such as the lungs, bones, central nervous system and/or liver. The underlying cause of ASPS is poorly understood. Most cases occur sporadically in people with no family history of the condition. ASPS is generally treated with surgery; radiation therapy and/or chemotherapy may be considered if the tumor returns.

MalaCards based summary : Alveolar Soft Part Sarcoma, also known as asps, is related to spindle cell sarcoma and sarcoma. An important gene associated with Alveolar Soft Part Sarcoma is ASPSCR1 (ASPSCR1 Tether For SLC2A4, UBX Domain Containing), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Developmental Biology. The drugs Mesna and Cisplatin have been mentioned in the context of this disorder. Affiliated tissues include tongue, breast and brain, and related phenotypes are alveolar soft part sarcoma and Decreased cell migration

Disease Ontology : 12 A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.

OMIM® : 57 Alveolar soft part sarcoma is an unusual tumor with highly characteristic histopathology and ultrastructure, controversial histogenesis, and enigmatic clinical behavior (Lieberman et al., 1989; Ordonez, 1999). The typical histology of ASPS shows well-defined nests of cells with abundant pink cytoplasm. The loss of central cohesion produces a pseudoalveolar appearance (Ladanyi et al., 2001). (606243) (Updated 05-Mar-2021)

KEGG : 36 Alveolar soft part sarcoma (ASPS) is a rare, histologically distinctive soft-tissue sarcoma typically occurring in children and young adults. Although it displays a relatively indolent clinical course, the ultimate prognosis is poor and is often characterised by late metastases. ASPS is characterised by an unbalanced translocation: der(17)t(X:17)(p11;q25). This translocation causes the fusion of the TEF3 (transcription factor binding to IGHM enhancer 3) with a novel gene at 17q25, named ASPL. Translocation between chromosomes X and 17 is seen in all the tested cases, implicating transcriptional deregulation in the pathogenesis of this tumor.

Wikipedia : 74 Alveolar soft part sarcoma, abbreviated ASPS, is a very rare type of soft-tissue sarcoma, that grows... more...

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Related Diseases for Alveolar Soft Part Sarcoma

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Diseases related to Alveolar Soft Part Sarcoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 337)
# Related Disease Score Top Affiliating Genes
1 spindle cell sarcoma 32.7 VIM MYOG DES
2 sarcoma 32.5 VIM TFE3 MYOG MTOR ASPSCR1
3 rare tumor 31.8 RET DES
4 granular cell tumor 31.4 VIM ENO2 DES
5 hemangioma 31.1 SYP RET MTOR ENO2
6 mesenchymal cell neoplasm 31.1 TFE3 PDGFRB MYOG
7 myoblastoma 31.1 MYOG ENO2 ASPSCR1
8 malignant mesenchymoma 31.1 MYOG MYOD1 MB DES
9 epithelioid sarcoma 31.0 VIM SYP EGFR
10 clear cell sarcoma 31.0 TFE3 SYP ENO2
11 perivascular epithelioid cell tumor 30.9 VIM TFE3 SYP DES ASPSCR1
12 renal cell carcinoma, xp11-associated 30.8 TFE3 ASPSCR1
13 meningioma, familial 30.8 VIM SYP RET PDGFRB EGFR
14 vascular cancer 30.8 TFE3 SYP PDGFRB MYOG
15 malignant granular cell myoblastoma 30.7 MB ENO2
16 small cell carcinoma 30.6 SYP ENO2 EGFR
17 liposarcoma 30.6 VIM MYOG MB DES
18 renal cell carcinoma, nonpapillary 30.5 VIM TFE3 RET PDGFRB MTOR MET
19 chordoma 30.5 VIM PDGFRB MTOR MET EGFR DES
20 renal cell carcinoma, papillary, 1 30.4 TFE3 MTOR MET EGFR ASPSCR1
21 leiomyosarcoma 30.3 VIM PDGFRB MYOG MB ENO2 DES
22 gastrointestinal stromal tumor 30.2 VIM SYP PDGFRB ENO2 EGFR DES
23 adenocarcinoma 30.2 RET PDGFRB MLH1 MET EGFR
24 pheochromocytoma 30.2 VIM SYP RET PDGFRB ENO2
25 neuroblastoma 30.1 SYP RET MTOR MET ENO2 EGFR
26 rhabdomyosarcoma 2 30.1 TFE3 MYOG MYOD1 MYF6 MYF5 MB
27 medulloblastoma 29.9 VIM SYP PDGFRB MTOR MET ENO2
28 rhabdomyosarcoma 29.9 VIM SYP PDGFRB MYOG MYOD1 MYF6
29 cervical alveolar soft part sarcoma 11.8
30 vulvar alveolar soft part sarcoma 11.8
31 soft tissue sarcoma 11.5
32 rare soft tissue tumor 10.7
33 paraganglioma 10.6
34 exophthalmos 10.5
35 infantile digital fibromatosis 10.5 VIM DES
36 giant cell myocarditis 10.5 MB DES
37 lymphangiomatosis 10.5 VIM DES
38 myocardium cancer 10.5 SYP MYOG
39 bednar tumor 10.5 VIM ENO2
40 malignant melanocytic neoplasm of the peripheral nerve sheath 10.5 SYP ENO2
41 primary hepatic neuroendocrine carcinoma 10.5 VIM SYP
42 glomangiomyoma 10.5 VIM SYP
43 angiomyoma 10.5 MB ENO2
44 heart lymphoma 10.5 VIM MYOG
45 benign metastasizing leiomyoma 10.5 VIM DES
46 anal neuroendocrine tumor 10.5 SYP ENO2
47 childhood kidney cell carcinoma 10.5 TFE3 ASPSCR1
48 optic nerve astrocytoma 10.5 SYP ENO2
49 spindle cell thymoma 10.4 ENO2 DES
50 cerebral neuroblastoma 10.4 SYP ENO2

Graphical network of the top 20 diseases related to Alveolar Soft Part Sarcoma:



Diseases related to Alveolar Soft Part Sarcoma
Sources

Symptoms & Phenotypes for Alveolar Soft Part Sarcoma

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Human phenotypes related to Alveolar Soft Part Sarcoma:

31
# Description HPO Frequency HPO Source Accession
1 alveolar soft part sarcoma 31 HP:0012218

Clinical features from OMIM®:

606243 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Alveolar Soft Part Sarcoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 9.55 MET PDGFRB VIM
2 Decreased cell migration GR00055-A-3 9.55 EGFR MTOR
3 Decreased viability with paclitaxel GR00179-A-1 9.02 EGFR MTOR
4 Decreased viability with paclitaxel GR00179-A-2 9.02 MTOR
5 Decreased viability with paclitaxel GR00179-A-3 9.02 EGFR MTOR
6 Decreased cell viability after pRB stimulation GR00230-A-1 8.65 PDGFRB

MGI Mouse Phenotypes related to Alveolar Soft Part Sarcoma:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.34 ADAM9 BSG DES EGFR ENO2 MB
2 homeostasis/metabolism MP:0005376 10.34 ADAM9 BSG DES EGFR MB MET
3 mortality/aging MP:0010768 10.33 ADAM9 BSG DES EGFR MB MET
4 behavior/neurological MP:0005386 10.32 ASPSCR1 DES ENO2 MET MLH1 MTOR
5 growth/size/body region MP:0005378 10.3 BSG EGFR ENO2 MB MET MTOR
6 embryo MP:0005380 10.18 EGFR MB MET MTOR MYF5 MYF6
7 muscle MP:0005369 10.18 BSG DES EGFR MB MET MTOR
8 adipose tissue MP:0005375 10.13 EGFR MTOR MYF5 MYF6 MYOD1 MYOG
9 normal MP:0002873 9.97 ADAM9 EGFR MET MTOR MYF5 MYF6
10 neoplasm MP:0002006 9.92 ADAM9 EGFR MET MLH1 MYF5 MYF6
11 no phenotypic analysis MP:0003012 9.86 EGFR MET MTOR MYF5 MYF6 MYOD1
12 respiratory system MP:0005388 9.77 BSG EGFR ENO2 MB MET MLH1
13 vision/eye MP:0005391 9.28 ADAM9 BSG EGFR MET MYF5 MYF6
Sources

Drugs & Therapeutics for Alveolar Soft Part Sarcoma

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Drugs for Alveolar Soft Part Sarcoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 176)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mesna Approved, Investigational Phase 4 3375-50-6 598
2
Cisplatin Approved Phase 4 15663-27-1 84093 441203 2767
3
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
4
Daunorubicin Approved Phase 4 20830-81-3 30323
5
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
6
Cytarabine Approved, Investigational Phase 4 147-94-4 6253
7
Mercaptopurine Approved Phase 4 50-44-2 667490
8
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
9
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
10
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212
11
Teniposide Approved Phase 4 29767-20-2 34698
12
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
13
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
14
Metformin Approved Phase 4 657-24-9 14219 4091
15
Insulin aspart Approved Phase 4 116094-23-6 16132418
16
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
17
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
18
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
19 retinol Phase 4
20 Omega 3 Fatty Acid Phase 4
21 Retinol palmitate Phase 4
22 Complement C3 Phase 4
23 N-Methylaspartate Phase 4
24 BB 1101 Phase 4
25 Antibiotics, Antitubercular Phase 4
26 Anti-Bacterial Agents Phase 4
27 Antimitotic Agents Phase 4
28 Antirheumatic Agents Phase 4
29 Tubulin Modulators Phase 4
30 Dermatologic Agents Phase 4
31 Analgesics Phase 4
32 Vitamin B Complex Phase 4
33 Folic Acid Antagonists Phase 4
34 Folate Phase 4
35 Vitamin B9 Phase 4
36 Hydrocortisone hemisuccinate Phase 4
37 Hydrocortisone 17-butyrate 21-propionate Phase 4
38 Insulin, Globin Zinc Phase 4
39 Hypoglycemic Agents Phase 4
40 Insulin, Short-Acting Phase 4
41 insulin Phase 4
42
Epirubicin Approved Phase 3 56420-45-2 41867
43
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
44
Lenograstim Approved, Investigational Phase 3 135968-09-1
45
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166 2942
46
Cetuximab Approved Phase 3 205923-56-4 56842117 2333
47
Docetaxel Approved, Investigational Phase 3 114977-28-5 148124
48
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
49
Idarubicin Approved Phase 2, Phase 3 58957-92-9 42890
50
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907

Interventional clinical trials:

(show top 50) (show all 104)
# Name Status NCT ID Phase Drugs
1 The Impact of Omega-3 Supplementation on Acylation Stimulating Protein(ASP), Retinol-binding Protein 4 (RBP4) and Lipocalin-2 (LCN2) Gene Expression of ASP Receptor (C5L2) in WBC of Patient With Diabetes Type 2 Unknown status NCT01478776 Phase 4
2 A Randomized Controlled Multi-center Clinical Trial on Treatment of Stage Ⅲ/Ⅳ NK/T Cell Lymphoma With DDGP Regiment (Gemcitabine,Pegaspargase,Cisplatin,Dexamethasone) Unknown status NCT01501149 Phase 4 DDGP(cisplatin,dexamethasone,gemcitabine,pegaspargase);Modified SMILE （MTX，DEX，IFO，L-ASP，Etoposide，Mesna）
3 Treatment of High Risk Adult Acute Lymphoblastic Leukemia Completed NCT00853008 Phase 4 Vincristine;Daunorubicin;Prednisone;Mitoxantrone;Cytosine Arabinoside;Dexamethasone;Methotrexate (MTX);Cytarabine;ASP;Mercaptopurine;Teniposide;Hydrocortisone
4 Comparison of Efficacy and Safety of Prandilin and NovoRapid Evaluated by Continuous Glucose Monitoring System in Newly Diagnosed Type 2 Diabetes Completed NCT03226210 Phase 4 aspart insulin or lipro insulin
5 Risk-Based Treatment for Non-Rhabdomyosarcoma Soft Tissue Sarcomas (NRSTS) in Patients Under 30 Years of Age Unknown status NCT00346164 Phase 3 doxorubicin hydrochloride;ifosfamide
6 Localized Non-Rhabdomyosarcoma Soft Tissue Sarcomas Unknown status NCT00334854 Phase 3 doxorubicin hydrochloride;ifosfamide
7 An Open-Label, One-Arm, Multi-Site Trial of Precision Diagnosis Directing Histone Deacetylase Inhibitor Chidamide Target Total Therapy for Adult Early T-cell Progenitor Acute Lymphoblastic Leukemia/Lymphoma Unknown status NCT03553238 Phase 2, Phase 3 Chidamide;Dexamethasone;vincristine;Cyclophosphamide;Idarubicin;Pegaspargase;Adriamycin;Methotrexate;6-Mercaptopurine;Etoposide;Cytarabine
8 MMT 95 Study For Rhabdomyosarcoma and Other Malignant Soft Tissue Tumors of Childhood Completed NCT00002898 Phase 3 carboplatin;cyclophosphamide;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
9 Randomised Trial of Post-Operative Radiotherapy Given to Adult Patients With Extremity Soft Tissue Sarcoma [VORTEX] Completed NCT00423618 Phase 3
10 RANDOMISED TRIAL OF ADJUVANT CHEMOTHERAPY WITH HIGH-DOSE DOXORUBICIN, IFOSFAMIDE AND LENOGRASTIM IN HIGH GRADE SOFT TISSUE SARCOMA Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
11 A Phase III Randomized Study of Preoperative Radiation Plus Surgery Versus Surgery Alone for Patients With Retroperitoneal Sarcomas (RPS) Completed NCT00091351 Phase 3
12 A Randomized Exploratory Study to Evaluate Two Acupuncture Methods for the Treatment of Headaches Associated With Traumatic Brain Injury Completed NCT01338701 Phase 2, Phase 3
13 A Randomized, Double-Blind, Placebo-Controlled, Cross-Over Trial of Topical ASP-1001 (Contrast Media Formulation) in the Prevention of the Signs and Symptoms of the Acute Response to Nasal Allergen Challenge (NAC) Completed NCT00791102 Phase 2, Phase 3 ASP-1001 nasal spray;Placebo for ASP-1001
14 A Phase III Study of AL3818 (Anlotinib, Catequentinib) Hydrochloride Monotherapy in Subjects With Metastatic or Advanced Alveolar Soft Part Sarcoma, Leiomyosarcoma and Synovial Sarcoma Recruiting NCT03016819 Phase 3 AL3818;Dacarbazine;AL3818 or placebo
15 A Phase 3, Randomized, Double-Arm, Open-Label, Controlled Trial of ASP-1929 Photoimmunotherapy Versus Physician's Choice Standard of Care for the Treatment of Locoregional, Recurrent Head and Neck Squamous Cell Carcinoma in Patients Who Have Failed or Progressed On or After at Least Two Lines of Therapy, of Which at Least One Line Must Be Systemic Therapy Recruiting NCT03769506 Phase 3 Physician's Choice SOC
16 An Open-Label, One-Arm, Multi-Site Trial of Precision Diagnosis Directing Histone Deacetylase Inhibitor Chidamide Total Therapy for Adult T-lymphoblastic Lymphoma/Leukemia Recruiting NCT03564704 Phase 2, Phase 3 Dexamethasone;vincristine;Cyclophosphamide;Idarubicin;Pegaspargase;Adriamycin;Methotrexate;6-mercaptopurine.;Etoposide;Cytarabine;Chidamide
17 Pazopanib Neoadjuvant Trial in Non-Rhabdomyosarcoma Soft Tissue Sarcomas (PAZNTIS): A Phase II/III Randomized Trial of Preoperative Chemoradiation or Preoperative Radiation Plus or Minus Pazopanib (NSC# 737754) Active, not recruiting NCT02180867 Phase 2, Phase 3 Doxorubicin;Doxorubicin Hydrochloride;Ifosfamide;Pazopanib;Pazopanib Hydrochloride
18 A Randomized Multi-Center Treatment Study (COALL 08-09) to Improve the Survival of Children With Acute Lymphoblastic Leukemia on Behalf of the German Society of Pediatric Hematology and Oncology Active, not recruiting NCT01228331 Phase 2, Phase 3 Amsacrine;Clofarabine;Cyclophosphamide;Cytarabine;Daunorubicin hydrochloride;Dexamethasone;Doxorubicin hydrochloride;Etoposide phosphate;Mercaptopurine;Methotrexate;Methylprednisolone;Pegaspargase;Thioguanine;Vincristine sulfate
19 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
20 TRUSTS: A Phase IIB/III Multicenter Study Comparing the Efficacy of TRabectedin Administered as a 3-Hour or 24-Hour Infusion to Doxorubicin in Patients With Advanced or Metastatic Untreated Soft Tissue Sarcoma Terminated NCT01189253 Phase 2, Phase 3 doxorubicin hydrochloride;trabectedin
21 Safety and Efficacy of Intensive Versus Guideline Antiplatelet Therapy in High Risk Patients With Recent Ischaemic Stroke or Transient Ischaemic Attack: a Randomised Controlled Trial Terminated NCT01661322 Phase 3 Aspirin, Dipyradimole, Clopidogrel
22 ASP II (Ancrod Stroke Program) Study of Acute Viprinexâ„¢ for Emergency Stroke: A Randomized, Double-Blind, Placebo-Controlled Study of Ancrod (Viprinexâ„¢) in Subjects Beginning Treatment Within 6 Hours of the Onset of Acute Ischemic Stroke Terminated NCT00300196 Phase 3 Placebo
23 ASP I (Ancrod Stroke Program) Study of Acute Viprinexâ„¢ for Emergency Stroke: A Randomized, Double-Blind, Placebo-Controlled Study of Ancrod (Viprinexâ„¢) in Subjects Beginning Treatment Within 6 Hours of the Onset of Acute, Ischemic Stroke Terminated NCT00141011 Phase 3 Ancrod (Viprinex);Placebo
24 Randomized Phase II Study of Brostallicin (PNU-166196A) Versus Doxorubicin as First Line Chemotherapy in Patients With Advanced or Metastatic Soft Tissue Sarcoma Unknown status NCT00410462 Phase 2 brostallicin;doxorubicin hydrochloride
25 Phase II Evaluation of Temodal (Temozolomide, Schering) in Previously Treated Advanced Sarcomas Unknown status NCT00003718 Phase 2 temozolomide
26 A Phase II Trial of Cediranib in the Treatment of Patients With Alveolar Soft Part Sarcoma (CASPS) Unknown status NCT01337401 Phase 2 Cediranib;Placebo
27 Phase 2 Study Evaluating the Efficacy of Rituximab Plus Modified VPDL for Newly Diagnosed CD20-Positive Adult Acute Lymphoblastic Leukemia Unknown status NCT01429610 Phase 2 Rituximab+mVPDL
28 Phase II Study of L-asparaginase Plus DICE Regimen in Patients With Stage I/II NK/T-cell Lymphoma Unknown status NCT00933673 Phase 2 L-asp, DXM, IFO, VP-16, DDP
29 A Phase II Study of Cixutumumab (IMC-A12) in Combination With Temsirolimus in Pediatric Patients With Recurrent or Refractory Solid Tumors Completed NCT01614795 Phase 2 Temsirolimus
30 A Phase 1B/II Study of GDC-0449 (NSC 747691) in Combination With RO4929097, a Gamma-Secretase Inhibitor (GSI) in Advanced/Metastatic Sarcomas Completed NCT01154452 Phase 1, Phase 2 Gamma-Secretase Inhibitor RO4929097;Vismodegib
31 A Phase II Study of Single Agent Depsipeptide (FK228) in Metastatic or Unresectable Soft Tissue Sarcomas Completed NCT00112463 Phase 2 romidepsin
32 A Randomized, Double-Blind Phase II, Study of Gemcitabine Alone or in Combination With Pazopanib for Refractory Soft Tissue Sarcoma Completed NCT01532687 Phase 2 Gemcitabine;Gemcitabine Hydrochloride;Pazopanib;Pazopanib Hydrochloride
33 Phase II Trial of Gleevec (Formerly Known as STI571) in Patients With Soft Tissue and Bone Sarcomas: A Multi-Disciplinary Trial of the North American Sarcoma Study Group of the Connective Tissue Oncology Society Completed NCT00031915 Phase 2 imatinib mesylate
34 MMT 98 Study For Metastatic Disease Rhabdomyosarcoma And Other Malignant Soft Tissue Sarcoma Of Childhood Completed NCT00025441 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
35 Dose Finding and Phase II Study of STI 571 in Advanced Soft Tissue Sarcoma Completed NCT00006357 Phase 1, Phase 2 imatinib mesylate
36 A Phase II Study Of Perifosine (D-21266) In Patients With Previously Untreated Metastatic Or Locally Advanced Soft Tissue Sarcoma Completed NCT00053794 Phase 2 perifosine
37 Phase II Study on ET-743 in Advanced Soft Tissue Sarcomas of the Adult Completed NCT00003939 Phase 2 trabectedin
38 Multicenter Parallel Phase II Trial of BI 2536 Administered as One Hour IV Infusion Every 3 Weeks in Defined Cohorts of Patients With Various Solid Tumors. A New Drug Screening Program of the EORTC Network of Core Institutions (NOCI) Completed NCT00526149 Phase 2 BI 2536
39 A Multicenter Phase II Study of Continuous Dosing of Sunitinib (Sutent®, SU11248) in Non-GIST Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
40 A Phase II Trial of Dasatinib in Advanced Sarcomas Completed NCT00464620 Phase 2 Dasatinib
41 Sarcoma Alliance for Research Through Collaboration (SARC) Multicenter Trial: A Phase II Trial of Perifosine in Patients With Chemo-Insensitive Sarcomas Completed NCT00401388 Phase 2 Perifosine
42 A Phase 2 Study of ARQ 197 in Patients With Microphthalmia Transcription Factor Associated Tumors Completed NCT00557609 Phase 2 ARQ 197
43 A 12-week With Possible Extension, Prospective, Multicenter, Randomized, Open-label, 2-parallel Group, Phase IIa Study to Compare Efficacy and Safety of AB1010 at 3 or 6 mg/kg/Day in Treatment of Patients With Mastocytosis With Handicap and Bearing Activating Point Mutations in the Phosphotransferase Domain of c-Kit Such as the Main Mutation Asp-816-Val (D816V) Completed NCT01266369 Phase 2 masitinib
44 Development of a New Non-radioactive Test for Measuring Glomerular Filtration Rate Using the Tetrapeptide N-acetyl-Ser-Asp-Lys-Pro-amide (AcSDKP-NH2) Completed NCT01588756 Phase 1, Phase 2 AcSDKP-NH2 inuline;AcSDKP-NH2 Cr-EDTA
45 Phase IIa, Open-label, Randomized Study of Oral AB1010 in Patients With Systemic Indolent Mastocytosis With Handicap and Not Bearing Activating Point Mutations in the Phosphotransferase Domain of c-Kit Such as the Main Mutation Asp-816-Val (D816V) Completed NCT00831974 Phase 2 masitinib (AB1010);masitinib (AB1010)
46 Battlefield Acupuncture for the Treatment of Low Back Pain in the Emergency Department Completed NCT02399969 Phase 1, Phase 2
47 An Open-label, Single-arm, Phase II Clinical Study of Anti-PD-1 Antibody GB226 in Treatment of Relapsed/Metastatic/Unresectable Alveolar Soft Part Sarcoma (ASPS) Recruiting NCT03623581 Phase 2
48 A Phase 2 Study of Anti-PD-L1 Antibody (Atezolizumab) in Alveolar Soft Part Sarcoma Recruiting NCT03141684 Phase 2 Atezolizumab
49 A Phase II Study of Concurrent Systemic Pembrolizumab and Isolated Limb Infusion (ILI) With Melphalan and Dactinomycin for Patients With Locally Advanced or Metastatic Extremity Sarcoma Recruiting NCT04332874 Phase 2 Pembrolizumab;infusion of melphalan and dactinomycin
50 Phase 2 Trial of PEG-ASP Combined With Etoposide and Gemcitabine (PEG) as First-line Chemotherapy to Treat NK/T-cell Lymphoma Recruiting NCT02705508 Phase 2 Gemcitabine;etoposide;Pegaspargase

Search NIH Clinical Center for Alveolar Soft Part Sarcoma

Cochrane evidence based reviews: sarcoma, alveolar soft part

Sources

Genetic Tests for Alveolar Soft Part Sarcoma

About this section

Genetic tests related to Alveolar Soft Part Sarcoma:

# Genetic test Affiliating Genes
1 Alveolar Soft Part Sarcoma (disease) 29 ASPSCR1
Sources

Anatomical Context for Alveolar Soft Part Sarcoma

About this section

MalaCards organs/tissues related to Alveolar Soft Part Sarcoma:

40
Tongue, Breast, Brain, Bone, Lung, Cervix, Skin
Sources

Publications for Alveolar Soft Part Sarcoma

About this section

Articles related to Alveolar Soft Part Sarcoma:

(show top 50) (show all 1658)
# Title Authors PMID Year
1
The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. 61 57
11244503 2001
2
Chromosome rearrangement at 17q25 and xp11.2 in alveolar soft-part sarcoma: A case report and review of the literature. 61 57
10506710 1999
3
Alveolar soft part sarcoma: a review and update. 61 57
10342010 1999
4
Alveolar soft-part sarcoma. A clinico-pathologic study of half a century. 61 57
2642727 1989
5
Immunohistochemical discrimination between the ASPL-TFE3 fusion proteins of alveolar soft part sarcoma. 61 54
18176180 2008
6
Pediatric renal cell carcinomas with Xp11.2 rearrangements are immunoreactive for hMLH1 and hMSH2 proteins. 54 61
16328670 2005
7
TFE3 immunoreactivity in alveolar soft part sarcoma of the uterine cervix: case report. 61 54
15782069 2005
8
Primary alveolar soft part sarcoma (ASPS) of the breast: report of a deceptive case with xanthomatous features confirmed by TFE3 immunohistochemistry and electron microscopy. 54 61
15735860 2005
9
Alveolar soft part sarcoma on the glabella. 61 54
15081230 2004
10
Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay. 54 61
12766578 2003
11
Alveolar soft part sarcoma--reciprocal translocation between chromosome 17q25 and Xp11. Report of a case with metastases at presentation and review of the literature. 54 61
12769020 2003
12
Are myogenin and myoD1 expression specific for rhabdomyosarcoma? A study of 150 cases, with emphasis on spindle cell mimics. 61 54
11688574 2001
13
Immunohistochemical profile of myogenin and MyoD1 does not support skeletal muscle lineage in alveolar soft part sarcoma. 61 54
10383802 1999
14
[Alveolar soft part sarcoma: a clinicopathologic and immunohistochemical study of 13 cases]. 61 54
1452160 1992
15
MyoD1 protein expression in alveolar soft part sarcoma as confirmatory evidence of its skeletal muscle nature. 61 54
1656801 1991
16
A global point prevalence survey of antimicrobial use in neonatal intensive care units: The no-more-antibiotics and resistance (NO-MAS-R) study. 61
33554094 2021
17
Dynamic heterogeneity flow promotes binding reactions in a dense system of hard annular sector particles. 61
33514954 2021
18
System design for inferring colony-level pollination activity through miniature bee-mounted sensors. 61
33608580 2021
19
Effects of a nudge-based antimicrobial stewardship program in a pediatric primary emergency medical center. 61
33558964 2021
20
Compliance with South Africa's Antimicrobial Resistance National Strategy Framework: are we there yet? 61
32693710 2021
21
Policy Statement: Antibiotic Stewardship in Pediatrics. 61
33595086 2021
22
Immunomodulatory effect of Acanthopanax senticosus polysaccharide on immunosuppressed chickens. 61
33518115 2021
23
Clinical Outcome of the Patients With Brain Metastasis from Soft Tissue Sarcomas. 61
33517311 2021
24
Stereotactic radiosurgery as a primary treatment for metastatic skull base alveolar soft part sarcoma: a case report. 61
32686069 2021
25
Use of RNAi as a preliminary tool for screening putative receptors of nematicidal toxins from Bacillus thuringiensis. 61
33432376 2021
26
Long-Term Impact of an Educational Antimicrobial Stewardship Program on Management of Patients with Hematological Diseases. 61
33573180 2021
27
Evidence for a spin acoustic surface plasmon from inelastic atom scattering. 61
33452337 2021
28
Utility of 1,3 β-d-Glucan Assay for Guidance in Antifungal Stewardship Programs for Oncologic Patients and Solid Organ Transplant Recipients. 61
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29
Alveolar soft part sarcoma presenting in an unusual laryngeal location. 61
33414111 2021
30
Revisiting cytomorphology, including unusual features and clinical scenarios of 8 cases of alveolar soft part sarcoma with TFE3 immunohistochemical staining in 7 cases. 61
32853443 2021
31
Successful treatment of advanced alveolar soft part sarcoma with camrelizumab combined with apatinib: a case report. 61
33545800 2021
32
Alveolar Soft Part Sarcoma of the Oro-Maxillofacial Region in the Pediatric Age Group: Immunohistochemical and Ultrastructural Diagnosis of Two Cases. 61
33398684 2021
33
A descriptive study on prevalence of arm/shoulder problems and its impact on quality of life in breast cancer survivors. 61
33402566 2021
34
Chemoreceptor Iversity in Poid Asps and ts Eduction during the Volution of the Ollen-Ollecting Ifestyle of Ees (Hymenoptera: Apoidea). 61
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35
Astragalus polysaccharide has a protective effect on hematopoiesis in an irradiated mouse model and decreases apoptosis in megakaryocytes. 61
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36
ASPS/PSF Sponsored Symposia and Workshops. 61
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37
Impact of a Comprehensive Antimicrobial Stewardship Program on Institutional Burden of Antimicrobial Resistance: A 14-Year Controlled Interrupted Time-series Study. 61
31813967 2020
38
Surgical Leadership Training beyond the Traditional Mentorship Model. 61
33402775 2020
39
Patient Representation and Diversity in Plastic Surgery Social Media. 61
33331860 2020
40
Perceptions regarding antimicrobial use and resistance among adult hospital patients in Saudi Arabian Ministry of Health (MOH) hospitals. 61
33424257 2020
41
Antibiotics: easier to start than to stop? Predictors of antimicrobial stewardship recommendation acceptance. 61
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42
Gender Disparity in 2013-2018 Industry Payments to Plastic Surgeons. 61
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43
Experiences from the Missouri Antimicrobial Stewardship Collaborative: A mixed methods study. 61
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44
Dedicated time for antimicrobial stewardship-How much and why? Lessons learned from South Korea. 61
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45
PD-1 blockade using pembrolizumab in adolescent and young adult patients with advanced bone and soft tissue sarcoma. 61
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46
Sarcomas: Immune biomarker expression and checkpoint inhibitor trials. 61
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47
Soft tissue tumor with novel NR1D1-MAML1 fusion in a pediatric case. 61
32474730 2020
48
Activity and Safety of Geptanolimab (GB226) for Patients with Unresectable, Recurrent, or Metastatic Alveolar Soft Part Sarcoma: A Phase II, Single-arm Study. 61
33046518 2020
49
Alveolar Soft Part Sarcoma of Uterine Corpus in a Young Female: A Case Report With Review of Literature. 61
33323848 2020
50
Immune Checkpoint Inhibitors in Alveolar Soft Part Sarcoma: New Standard of Care? 61
33326306 2020
Sources

Variations for Alveolar Soft Part Sarcoma

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Cosmic variations for Alveolar Soft Part Sarcoma:

9 (show top 50) (show all 101)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87903333 TP53 soft tissue,liver,sarcoma,NS c.646G>A p.V216M 17:7674885-7674885 15
2 COSM112319175 TP53 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 15
3 COSM145022367 TP53 soft tissue,liver,sarcoma,NS c.529G>A p.V177M 17:7674885-7674885 15
4 COSM93250304 TP53 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 15
5 COSM111826264 TP53 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 15
6 COSM112257487 TP53 soft tissue,liver,sarcoma,NS c.646G>A p.V216M 17:7674885-7674885 15
7 COSM142840682 TP53 soft tissue,liver,sarcoma,NS c.646G>A p.V216M 17:7674885-7674885 15
8 COSM144718997 TP53 soft tissue,liver,sarcoma,NS c.242A>T p.K81M 17:7676010-7676010 15
9 COSM144313969 TP53 soft tissue,liver,sarcoma,NS c.529G>A p.V177M 17:7674885-7674885 15
10 COSM111763428 TP53 soft tissue,liver,sarcoma,NS c.646G>A p.V216M 17:7674885-7674885 15
11 COSM142892050 TP53 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 15
12 COSM105695818 TP53 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 15
13 COSM143947706 TP53 soft tissue,liver,sarcoma,NS c.169G>A p.V57M 17:7674885-7674885 15
14 COSM87975568 TP53 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 15
15 COSM144090111 TP53 soft tissue,liver,sarcoma,NS c.169G>A p.V57M 17:7674885-7674885 15
16 COSM93188160 TP53 soft tissue,liver,sarcoma,NS c.646G>A p.V216M 17:7674885-7674885 15
17 COSM105625297 TP53 soft tissue,liver,sarcoma,NS c.646G>A p.V216M 17:7674885-7674885 15
18 COSM122738565 TP53 soft tissue,liver,sarcoma,NS c.250G>A p.V84M 17:7674885-7674885 15
19 COSM144656180 TP53 soft tissue,liver,sarcoma,NS c.529G>A p.V177M 17:7674885-7674885 15
20 COSM121881499 TP53 soft tissue,liver,sarcoma,NS c.250G>A p.V84M 17:7674885-7674885 15
21 COSM145076613 TP53 soft tissue,liver,sarcoma,NS c.242A>T p.K81M 17:7676010-7676010 15
22 COSM122275696 TP53 soft tissue,liver,sarcoma,NS c.250G>A p.V84M 17:7674885-7674885 15
23 COSM144364047 TP53 soft tissue,liver,sarcoma,NS c.242A>T p.K81M 17:7676010-7676010 15
24 COSM143160205 TP53 soft tissue,liver,sarcoma,NS c.169G>A p.V57M 17:7674885-7674885 15
25 COSM143433111 TP53 soft tissue,liver,sarcoma,NS c.242A>T p.K81M 17:7676010-7676010 15
26 COSM142564545 TP53 soft tissue,liver,sarcoma,NS c.529G>A p.V177M 17:7674885-7674885 15
27 COSM143375373 TP53 soft tissue,liver,sarcoma,NS c.529G>A p.V177M 17:7674885-7674885 15
28 COSM106116663 TP53 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 15
29 COSM144017945 TP53 soft tissue,liver,sarcoma,NS c.613G>A p.V205M 17:7674885-7674885 15
30 COSM142627250 TP53 soft tissue,liver,sarcoma,NS c.242A>T p.K81M 17:7676010-7676010 15
31 COSM144072930 TP53 soft tissue,liver,sarcoma,NS c.340+15A>T p.? 17:7676010-7676010 15
32 COSM106057273 TP53 soft tissue,liver,sarcoma,NS c.646G>A p.V216M 17:7674885-7674885 15
33 COSM93992510 SRC soft tissue,lung,sarcoma,NS c.205T>G p.S69A 20:37384358-37384358 15
34 COSM98338978 SRC soft tissue,lung,sarcoma,NS c.205T>G p.S69A 20:37384358-37384358 15
35 COSM98373331 SRC soft tissue,lung,sarcoma,NS c.205T>G p.S69A 20:37384358-37384358 15
36 COSM93554172 SRC soft tissue,lung,sarcoma,NS c.205T>G p.S69A 20:37384358-37384358 15
37 COSM93451505 RAC1 soft tissue,lung,sarcoma,NS c.533C>T p.A178V 7:6402343-6402343 15
38 COSM92729038 RAC1 soft tissue,lung,sarcoma,NS c.476C>T p.A159V 7:6402343-6402343 15
39 COSM117948203 PTPRD soft tissue,lung,sarcoma,NS c.2939C>T p.A980V 9:8404587-8404587 15
40 COSM132326062 PTPRD soft tissue,lung,sarcoma,NS c.4160C>T p.A1387V 9:8404587-8404587 15
41 COSM91028178 PTPRD soft tissue,lung,sarcoma,NS c.2942C>T p.A981V 9:8404587-8404587 15
42 COSM101931022 PTPRD soft tissue,lung,sarcoma,NS c.4160C>T p.A1387V 9:8404587-8404587 15
43 COSM132607215 PTPRD soft tissue,lung,sarcoma,NS c.2912C>T p.A971V 9:8404587-8404587 15
44 COSM102156539 PTPRD soft tissue,lung,sarcoma,NS c.2930C>T p.A977V 9:8404587-8404587 15
45 COSM102254463 PTPRD soft tissue,lung,sarcoma,NS c.2939C>T p.A980V 9:8404587-8404587 15
46 COSM92957889 PTPRD soft tissue,lung,sarcoma,NS c.4160C>T p.A1387V 9:8404587-8404587 15
47 COSM102059370 PTPRD soft tissue,lung,sarcoma,NS c.2939C>T p.A980V 9:8404587-8404587 15
48 COSM106841030 PTCH1 soft tissue,lung,sarcoma,NS c.2468T>G p.F823C 9:95458260-95458260 15
49 COSM103461667 PTCH1 soft tissue,lung,sarcoma,NS c.2468T>G p.F823C 9:95458260-95458260 15
50 COSM110727009 PTCH1 soft tissue,lung,sarcoma,NS c.2723T>G p.F908C 9:95458260-95458260 15
Sources

Expression for Alveolar Soft Part Sarcoma

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Search GEO for disease gene expression data for Alveolar Soft Part Sarcoma.
Sources

Pathways for Alveolar Soft Part Sarcoma

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Pathways related to Alveolar Soft Part Sarcoma according to KEGG:

36
# Name Kegg Source Accession
1 Transcriptional misregulation in cancer hsa05202

Pathways related to Alveolar Soft Part Sarcoma according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Developmental Biology 65
Show member pathways
 13.32 RET PDGFRB MYOG MYOD1 MYF6 MYF5
2
Endometrial cancer 36
Show member pathways
 12.7 RET PDGFRB MTOR MLH1 EGFR
3
Pathways in cancer 36
12.52 RET PDGFRB MTOR MLH1 MET EGFR
4
Glioma 36
Show member pathways
 12.49 RET PDGFRB MTOR MET EGFR
5
ErbB signaling pathway 36 1
Show member pathways
 12.43 TFE3 PDGFRB MTOR MET EGFR
6
Apoptosis Pathway 70
Show member pathways
 12.26 PDGFRB MTOR MET EGFR
7
MicroRNAs in cancer 36
12.26 VIM PDGFRB MTOR MET EGFR
8
Calcium signaling pathway 36
12.21 RET PDGFRB MET EGFR
9
Tyrosine Kinases / Adaptors 4
11.9 RET PDGFRB MET EGFR
10
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.43 MYOG MYOD1 MYF5 DES
11
Signaling events mediated by TCPTP 1
Show member pathways
 11.26 PDGFRB MET EGFR
12
Crizotinib Pathway, Pharmacokinetics/Pharmacodynamics 60
11.16 PDGFRB MTOR MET
13
CDO in myogenesis 65
Show member pathways
 11.02 MYOG MYOD1 MYF6 MYF5
14
Extracellular vesicle-mediated signaling in recipient cells 1
10.91 MTOR MET EGFR
15
Central carbon metabolism in cancer 36
10.87 RET PDGFRB MTOR MET EGFR
16
G-protein signaling_Rap2B regulation pathway 23
10.85 VIM PDGFRB MET EGFR DES
Sources

GO Terms for Alveolar Soft Part Sarcoma

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Cellular components related to Alveolar Soft Part Sarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 9.56 SLC16A1 EGFR BSG ADAM9
2 receptor complex GO:0043235 9.46 RET PDGFRB MET EGFR
3 focal adhesion GO:0005925 9.35 VIM PDGFRB EGFR BSG ADAM9
4 basal plasma membrane GO:0009925 8.8 SLC16A1 MET EGFR

Biological processes related to Alveolar Soft Part Sarcoma according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.14 TFE3 MYOG MYOD1 MYF6 MYF5 MET
2 multicellular organism development GO:0007275 10.08 RET PDGFRB MYOG MYOD1 MYF6 MYF5
3 positive regulation of transcription, DNA-templated GO:0045893 10.06 TFE3 RET MYOG MYOD1 MYF6 EGFR
4 protein phosphorylation GO:0006468 10.02 RET PDGFRB MYOD1 MTOR MET EGFR
5 MAPK cascade GO:0000165 9.92 RET PDGFRB MET EGFR
6 positive regulation of cell migration GO:0030335 9.91 RET PDGFRB EGFR ADAM9
7 peptidyl-tyrosine phosphorylation GO:0018108 9.83 RET PDGFRB MET EGFR
8 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.81 RET PDGFRB MET EGFR
9 muscle organ development GO:0007517 9.8 MYOG MYOD1 MYF6 MYF5
10 positive regulation of protein kinase B signaling GO:0051897 9.8 RET PDGFRB MTOR MET EGFR
11 positive regulation of smooth muscle cell proliferation GO:0048661 9.77 PDGFRB MTOR EGFR
12 response to hydrogen peroxide GO:0042542 9.75 PDGFRB MB ADAM9
13 positive regulation of kinase activity GO:0033674 9.73 RET PDGFRB MET EGFR
14 cellular response to estradiol stimulus GO:0071392 9.71 MYOG MYOD1 EGFR
15 skeletal muscle tissue development GO:0007519 9.67 MYOG MYOD1 MYF6 MYF5
16 skeletal muscle tissue regeneration GO:0043403 9.63 MYOG MYOD1 MYF6
17 myotube differentiation GO:0014902 9.62 MYOG MYOD1
18 skeletal muscle cell differentiation GO:0035914 9.62 MYOG MYOD1 MYF6 MYF5
19 positive regulation of keratinocyte migration GO:0051549 9.61 MTOR ADAM9
20 muscle tissue morphogenesis GO:0060415 9.57 MYF6 MYF5
21 positive regulation of neuron maturation GO:0014042 9.56 RET MTOR
22 positive regulation of muscle cell differentiation GO:0051149 9.56 MYOG MYOD1 MYF6 MYF5
23 positive regulation of myoblast differentiation GO:0045663 9.46 MYOG MYOD1 MYF6 MYF5
24 positive regulation of skeletal muscle fiber development GO:0048743 9.26 MYOG MYOD1 MYF6 MYF5
25 muscle cell fate commitment GO:0042693 8.92 MYOG MYOD1 MYF6 MYF5

Molecular functions related to Alveolar Soft Part Sarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.77 RET PDGFRB MTOR MET EGFR
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.72 TFE3 MYOG MYOD1 MYF6 MYF5
3 protein tyrosine kinase activity GO:0004713 9.56 RET PDGFRB MET EGFR
4 protein dimerization activity GO:0046983 9.55 TFE3 MYOG MYOD1 MYF6 MYF5
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.26 RET PDGFRB MET EGFR
6 E-box binding GO:0070888 8.92 MYOG MYOD1 MYF6 MYF5
Sources

Sources for Alveolar Soft Part Sarcoma

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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