RMSE1
MCID: RHB023
MIFTS: 45

Rhabdomyosarcoma, Embryonal, 1 (RMSE1)

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Rhabdomyosarcoma, Embryonal, 1

MalaCards integrated aliases for Rhabdomyosarcoma, Embryonal, 1:

Name: Rhabdomyosarcoma, Embryonal, 1 57 72
Rhabdomyosarcoma 1 57 72 54 70
Rhabdomyosarcoma, Somatic 57 13 6
Rmse1 57 72
Rms1 57 72
Rhabdomyosarcoma Chromosomal Region; Rmscr 57
Rhabdomyosarcoma Chromosomal Region 57
Rhabdomyosarcoma, Embryonal, Type 1 39
Rhabdomyosarcoma, Embryonal 70
Embryonal Rhabdomyosarcoma 58
Rhabdomyosarcoma 1; Rms1 57
Rmscr 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
rhabdomyosarcoma, embryonal, 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 268210
MeSH 44 D018233
MESH via Orphanet 45 D018233
ICD10 via Orphanet 33 C49.9
UMLS via Orphanet 71 C0206656
Orphanet 58 ORPHA99757
MedGen 41 C1849385
SNOMED-CT via HPO 68 14269005 258211005 404051002
UMLS 70 C0206656 C1849385

Summaries for Rhabdomyosarcoma, Embryonal, 1

UniProtKB/Swiss-Prot : 72 Rhabdomyosarcoma, embryonal, 1: A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.

MalaCards based summary : Rhabdomyosarcoma, Embryonal, 1, also known as rhabdomyosarcoma 1, is related to rhabdomyosarcoma and hepatoblastoma. An important gene associated with Rhabdomyosarcoma, Embryonal, 1 is SLC22A18 (Solute Carrier Family 22 Member 18), and among its related pathways/superpathways is Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Sargramostim and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include lung, liver and thyroid, and related phenotype is embryonal rhabdomyosarcoma.

More information from OMIM: 268210

Related Diseases for Rhabdomyosarcoma, Embryonal, 1

Diseases in the Embryonal Rhabdomyosarcoma family:

Rhabdomyosarcoma, Embryonal, 2 Rhabdomyosarcoma, Embryonal, 1

Diseases related to Rhabdomyosarcoma, Embryonal, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 216)
# Related Disease Score Top Affiliating Genes
1 rhabdomyosarcoma 31.5 SLC22A18 ABCB1
2 hepatoblastoma 29.3 SLC22A18 ABCB1
3 wilms tumor 1 29.3 SLC22A18 ABCB1
4 embryonal rhabdomyosarcoma 11.8
5 parameningeal embryonal rhabdomyosarcoma 11.5
6 prostate embryonal rhabdomyosarcoma 11.5
7 botryoid rhabdomyosarcoma 11.5
8 orbit embryonal rhabdomyosarcoma 11.4
9 vulvar childhood botryoid-type embryonal rhabdomyosarcoma 11.3
10 spindle cell rhabdomyosarcoma 11.3
11 embryonal extrahepatic bile duct rhabdomyosarcoma 11.1
12 mixed type rhabdomyosarcoma 11.1
13 childhood botryoid rhabdomyosarcoma 11.1
14 childhood vagina botryoid rhabdomyosarcoma 11.1
15 soft tissue sarcoma 10.8
16 orbit rhabdomyosarcoma 10.6
17 prostate rhabdomyosarcoma 10.6
18 sarcoma 10.5
19 rhabdomyosarcoma 2 10.5
20 spindle cell sarcoma 10.5
21 rare tumor 10.5
22 exophthalmos 10.4
23 dicer1 tumor predisposition 10.4
24 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome 10.4
25 pleuropulmonary blastoma 10.4
26 neuroblastoma 10.4
27 costello syndrome 10.3
28 embryonal sarcoma 10.3
29 obstructive jaundice 10.3
30 leiomyosarcoma 10.3
31 embryoma 10.3
32 chromosomal triplication 10.3
33 bile duct cysts 10.2
34 cervical polyp 10.2
35 nephroma 10.2
36 rasopathy 10.2
37 mesenchymal cell neoplasm 10.2
38 breast rhabdomyosarcoma 10.2
39 severe combined immunodeficiency 10.2
40 neurofibromatosis 10.2
41 muscular dystrophy 10.2
42 beckwith-wiedemann syndrome 10.1
43 otitis media 10.1
44 retinoblastoma 10.1
45 ewing sarcoma 10.1
46 tumor predisposition syndrome 10.1
47 adenosarcoma 10.1
48 constipation 10.1
49 sertoli-leydig cell tumor 10.1
50 teratoma 10.1

Graphical network of the top 20 diseases related to Rhabdomyosarcoma, Embryonal, 1:



Diseases related to Rhabdomyosarcoma, Embryonal, 1

Symptoms & Phenotypes for Rhabdomyosarcoma, Embryonal, 1

Human phenotypes related to Rhabdomyosarcoma, Embryonal, 1:

31
# Description HPO Frequency HPO Source Accession
1 embryonal rhabdomyosarcoma 31 HP:0006743

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Oncology:
embryonal rhabdomyosarcoma

Clinical features from OMIM®:

268210 (Updated 05-Apr-2021)

Drugs & Therapeutics for Rhabdomyosarcoma, Embryonal, 1

Drugs for Rhabdomyosarcoma, Embryonal, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
2
Lenograstim Approved, Investigational Phase 3 135968-09-1
3
Topotecan Approved, Investigational Phase 3 123948-87-8, 119413-54-6 60700
4
Irinotecan Approved, Investigational Phase 3 100286-90-6, 97682-44-5 60838
5
Morphine Approved, Investigational Phase 3 57-27-2 5288826
6
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
7
Vinorelbine Approved, Investigational Phase 3 71486-22-1 60780 44424639
8
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
9
Sirolimus Approved, Investigational Phase 3 53123-88-9 6436030 5284616
10
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
11
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
12
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
13
Molgramostim Investigational Phase 3 99283-10-0
14
Camptothecin Experimental Phase 3 7689-03-4
15 Hormones Phase 3
16 Calcium, Dietary Phase 3
17 topoisomerase I inhibitors Phase 3
18 Antifungal Agents Phase 3
19 Antimitotic Agents Phase 3
20 Tubulin Modulators Phase 3
21 Alkylating Agents Phase 3
22 Antibiotics, Antitubercular Phase 3
23 Anti-Infective Agents Phase 3
24 Immunosuppressive Agents Phase 3
25 Immunologic Factors Phase 3
26 Antirheumatic Agents Phase 3
27 Anti-Bacterial Agents Phase 3
28 Cactinomycin Phase 3
29
Calcium Nutraceutical Phase 3 7440-70-2 271
30
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
31
Etoposide Approved Phase 2 33419-42-0 36462
32
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
33
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
34
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
35
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
36
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
37
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
38
Etanercept Approved, Investigational Phase 2 185243-69-0
39
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
40
Bevacizumab Approved, Investigational Phase 2 216974-75-3
41
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
42
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
43
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
44
Tirapazamine Investigational Phase 2 27314-97-2
45 Imatinib Mesylate Phase 2 220127-57-1 123596
46 Epothilones Phase 2
47 Lactams Phase 2
48 Epothilone B Phase 2
49 Etoposide phosphate Phase 2
50 Immunoglobulins Phase 2

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Randomized Study of Vincristine, Dactinomycin and Cyclophosphamide (VAC) Versus VAC Alternating With Vincristine and Irinotecan (VI) for Patients With Intermediate-Risk Rhabdomyosarcoma (RMS) Unknown status NCT00354835 Phase 3 Irinotecan Hydrochloride;Cyclophosphamide;Vincristine Sulfate
2 Randomized Study of Vincristine, Actinomycin-D, and Cyclophosphamide (VAC) Versus VAC Alternating With Vincristine, Topotecan and Cyclophosphamide for Patients With Intermediate Risk Rhabdomyosarcoma Completed NCT00003958 Phase 3 vincristine sulfate;cyclophosphamide;topotecan hydrochloride
3 A Randomized Double Blinded Trial of Topical Caphosol to Prevent Oral Mucositis in Children Undergoing Hematopoietic Stem Cell Transplantation Completed NCT01305200 Phase 3 supersaturated calcium phosphate rinse
4 A Randomized Phase 3 Study of Vincristine, Dactinomycin, Cyclophosphamide (VAC) Alternating With Vincristine and Irinotecan (VI) Versus VAC/VI Plus Temsirolimus (TORI, Torisel, NSC# 683864) in Patients With Intermediate Risk (IR) Rhabdomyosarcoma (RMS) Recruiting NCT02567435 Phase 3 Cyclophosphamide;Irinotecan Hydrochloride;Temsirolimus;Vincristine Sulfate;Vinorelbine
5 Vincristine, Dactinomycin, and Lower Doses of Cyclophosphamide With or Without Radiation Therapy for Patients With Newly Diagnosed Low-Risk Embryonal/Botryoid/Spindle Cell Rhabdomyosarcoma Active, not recruiting NCT00075582 Phase 3 dactinomycin;cyclophosphamide;vincristine sulfate
6 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
7 Phase II Trial of Ixabepilone (BMS-247550), an Epothilone B Analog, in Children and Young Adults With Refractory Solid Tumors Completed NCT00331643 Phase 2 ixabepilone
8 A Pilot Study to Evaluate Novel Agents (Temozolomide and Cixutumumab [IMC-A12, Anti-IGF-IR Monoclonal Antibody NSC # 742460]) in Combination With Intensive Multi-agent Interval Compressed Therapy for Patients With High-Risk Rhabdomyosarcoma Completed NCT01055314 Phase 2 Cyclophosphamide;Doxorubicin Hydrochloride;Etoposide;Ifosfamide;Irinotecan Hydrochloride;Temozolomide;Vincristine Sulfate Liposome
9 Soluble Tumor Necrosis Factor Receptor: Enbrel® (Etanercept) for the Treatment of Acute Non-Infectious Pulmonary Dysfunction (Idiopathic Pneumonia Syndrome) Following Allogeneic Stem Cell Transplantation Completed NCT00309907 Phase 2 methylprednisolone
10 Phase II Trial of Irinotecan in Children With Refractory Solid Tumors Completed NCT00004078 Phase 2 irinotecan hydrochloride
11 A Phase II Study Of Trabectedin (ET-743, Yondelis®) in Children With Recurrent Rhabdomyosarcoma, Ewing Sarcoma, or Nonrhabdomyosarcomatous Soft Tissue Sarcomas Completed NCT00070109 Phase 2 trabectedin
12 A Randomized Phase II Trial of Bevacizumab (Avastin) and Temsirolimus (Torisel) in Combination With Intravenous Vinorelbine and Cyclophosphamide in Patients With Recurrent/Refractory Rhabdomyosarcoma Completed NCT01222715 Phase 2 Cyclophosphamide;Temsirolimus;Vinorelbine Tartrate
13 A Phase II Study of MLN8237, a Selective Aurora A Kinase Inhibitor in Children With Recurrent/Refractory Solid Tumors and Leukemias Completed NCT01154816 Phase 2 Alisertib
14 A Phase II Study of the Raf Kinase and Receptor Tyrosine Kinase Inhibitor Sorafenib in Children and Young Adults With Relapsed/Refractory Rhabdomyosarcoma, Wilms Tumor, Hepatocellular Carcinoma, and Papillary Thyroid Carcinoma Completed NCT01502410 Phase 2 sorafenib tosylate
15 A Groupwide Randomized Phase II Window Study of Two Different Schedules of Irinotecan in Combination With Vincristine And Pilot Assessment of Safety and Efficacy of Tirapazamine Combined With Multiagent Chemotherapy for First Relapse or Progressive Disease in Rhabdomyosarcoma and Related Tumors Completed NCT00025363 Phase 2 vincristine sulfate;irinotecan hydrochloride;cyclophosphamide;doxorubicin hydrochloride;ifosfamide;etoposide;tirapazamine
16 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
17 A Phase II Study of IMC-A12 (Anti-IGF-I Receptor Monoclonal Antibody, NSC #742460) in Children With Relapsed/Refractory Solid Tumors Completed NCT00831844 Phase 2
18 A Phase II Study of Imetelstat (GRN163L, NSC# 754228) in Children With Relapsed or Refractory Solid Tumors Withdrawn NCT02011126 Phase 2 Imetelstat Sodium
19 A Multicenter Phase I Trial of 17-N-allylamino-17-demethoxy Geldanamycin (17-AAG, NSC #330507) in Patients With Recurrent/Refractory Pediatric Solid Tumors (Ewing's Sarcoma, Desmoplastic Small Round Cell Tumor, Osteosarcoma, Neuroblastoma, and Rhabdomyosarcoma) and Leukemia Completed NCT00093821 Phase 1 tanespimycin
20 A Phase I Study of Single Agent OSI-774 (Tarceva) (NSC# 718781, IND# 63383) Followed by OSI-774 With Temozolomide for Patients With Selected Recurrent/Refractory Solid Tumors, Including Brain Tumors Completed NCT00077454 Phase 1 erlotinib hydrochloride;temozolomide
21 A Phase 1 Study of Doxorubicin and A12 in Advanced Soft Tissue Sarcoma Completed NCT00720174 Phase 1 Doxorubicin Hydrochloride
22 A Pilot Study to Evaluate the Potential Efficacy of Lithium Carbonate for Stimulation of Intestinal Recovery In Patients With Acute Graft-versus-host Disease (GVHD) Completed NCT00408681 lithium carbonate
23 Observational - CRKL Expression at the Protein Level in Rhabdomyosarcoma Tumors by Tissue Microarray (TMA) Completed NCT01496573
24 Observational - Identifying and Validating Novel Mechanisms of Radiation Resistance in Rhabdomyosarcoma Completed NCT01626170
25 Developmental Pathway Drug-Targets in Advanced Rhabdomyosarcomas Completed NCT01668095
26 Acquisition of Human Gynecologic Specimens to be Used in Studying the Causes, Diagnosis, Prevention and Treatment of Cancer Completed NCT00897442
27 Cardiac-Sparing Whole Lung IMRT in Children and Young Adults With Lung Metastases: A Feasibility Study Completed NCT01586104
28 Tissue Microarray Studies of the 12q13-q14 Amplicon in Alveolar Rhabdomyosarcoma Completed NCT01609803
29 International Pleuropulmonary Blastoma Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
30 Genetics of Embryonal and Alveolar Rhabdomyosarcoma Study (GEARS) Recruiting NCT03296371
31 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Active, not recruiting NCT00565903
32 A COG Soft Tissue Sarcoma Diagnosis, Biology and Banking Protocol Active, not recruiting NCT00919269

Search NIH Clinical Center for Rhabdomyosarcoma, Embryonal, 1

Genetic Tests for Rhabdomyosarcoma, Embryonal, 1

Anatomical Context for Rhabdomyosarcoma, Embryonal, 1

MalaCards organs/tissues related to Rhabdomyosarcoma, Embryonal, 1:

40
Lung, Liver, Thyroid, Endothelial, Bone, Breast, Prostate

Publications for Rhabdomyosarcoma, Embryonal, 1

Articles related to Rhabdomyosarcoma, Embryonal, 1:

(show top 50) (show all 82)
# Title Authors PMID Year
1
Transcriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samples. 6 57
9520460 1998
2
Expression profiling identifies the cytoskeletal organizer ezrin and the developmental homeoprotein Six-1 as key metastatic regulators. 57
14704789 2004
3
Synergism between INK4a/ARF inactivation and aberrant HGF/SF signaling in rhabdomyosarcomagenesis. 57
12368906 2002
4
Mono- and bi-allelic expression of insulin-like growth factor II gene in human muscle tumors. 57
7981680 1994
5
Human chromosome 11 contains two different growth suppressor genes for embryonal rhabdomyosarcoma. 57
1347425 1992
6
Rhabdomyosarcoma-associated locus and MYOD1 are syntenic but separate loci on the short arm of human chromosome 11. 57
2315312 1990
7
A model for embryonal rhabdomyosarcoma tumorigenesis that involves genome imprinting. 57
2798419 1989
8
Genetic analysis of tumorigenesis: a conserved region in the human and Chinese hamster genomes contains genetically identified tumor-suppressor genes. 57
3321067 1987
9
Chromosomal localization of the human rhabdomyosarcoma locus by mitotic recombination mapping. 57
3657988 1987
10
Loss of heterozygosity in three embryonal tumours suggests a common pathogenetic mechanism. 57
2991766 1985
11
Unusual intrascrotal lesions in adults in urological practice. 61
31697257 2019
12
Efficacy of a Modified Scoring System to Facilitate Surgical Decision-making for Diaphyseal Malignancies: When is Devitalized Tumor-bearing Autograft of Value? 61
31402605 2019
13
Real-World Experiences with Pazopanib in Patients with Advanced Soft Tissue and Bone Sarcoma in Northern California. 61
30889920 2019
14
Genomic profiling identifies GPC5 amplification in association with sarcomatous transformation in a subset of uterine carcinosarcomas. 61
29416878 2018
15
Secondary Urethral Malignancies Following Prostate Brachytherapy. 61
28882777 2017
16
Myeloid sarcoma: A clinicopathological study with emphasis on diagnostic difficulties. 61
29237964 2017
17
Pediatric imaging in DICER1 syndrome. 61
28474256 2017
18
Analysis of treatment of large abdominal malignancies in children complicated with abdominal compartment syndrome: Report of six cases. 61
28445278 2017
19
Primary Cardiac Tumors in Infants and Children: Surgical Strategy and Long-Term Outcome. 61
27344282 2016
20
[Diagnosis and treatment of the tumors of the parotid region in Pediatrics: cohort]. 61
28481064 2016
21
Sentinel node biopsy in pediatric patients: the experience in a single institution. 61
25478665 2014
22
Clinical and histopathological study of mass in ear: a study of fifty cases. 61
24427707 2013
23
Optimal surgical treatment and urological outcomes in boys with pelvic and urogenital rhabdomyosarcomas and soft tissue sarcomas. 61
23989524 2013
24
Ten years' minimum follow-up with the ileal continent catheterizable reservoir: a test of time. 61
22647747 2013
25
Diverse responses to vascular disrupting agent combretastatin a4 phosphate: a comparative study in rats with hepatic and subcutaneous tumor allografts using MRI biomarkers, microangiography, and histopathology. 61
23418616 2013
26
Rhabdomyosarcoma of the cervix in adult women and younger patients. 61
22609112 2012
27
Primary renal soft tissue sarcoma in children. 61
22784490 2012
28
Analysis of Gleason grade and scores in 90 Nigerian Africans with prostate cancer during the period 1994 to 2004. 61
23066423 2012
29
[Surgical treatment of massive soft tissue sarcoma in the shoulder girdle]. 61
22333418 2011
30
Uterine tumors with neuroectodermal differentiation. A report of 4 cases. 61
20204716 2010
31
Pathologic femoral neck fractures in children. 61
19340370 2009
32
Effects of chemotherapy during pregnancy on the placenta. 61
18462010 2009
33
Sentinel lymph node biopsy in the pediatric population. 61
19040933 2008
34
Diagnosis and treatment of isolated sphenoid sinus disease: a review of 109 cases. 61
19086308 2008
35
[Surgical treatment of children with hepatic tumours]. 61
18433603 2008
36
Initial testing of the VEGFR inhibitor AZD2171 by the pediatric preclinical testing program. 61
17457854 2008
37
A phase II trial of rebeccamycin analogue (NSC #655649) in children with solid tumors: a Children's Oncology Group study. 61
17610262 2008
38
Free vascularized fibular grafting for reconstruction after tumor resection in the upper extremity. 61
16847920 2006
39
Regulation of hepatic insulin-like growth factor-binding protein-1 gene expression by insulin: central role for mammalian target of rapamycin independent of forkhead box O proteins. 61
16455781 2006
40
Role of 99mTc-hexakis-2-methoxyisobutylisonitrile for detecting marrow metastases in childhood solid tumours. 61
16264353 2005
41
Cancer in infants: a review of 82 cases. 61
16169813 2005
42
Brain metastasis in pediatric extracranial solid tumors: survey and literature review. 61
15719274 2005
43
Laparoscopy in the management of pediatric intraabdominal tumors. 61
15119653 2004
44
Primary nonphylloides breast sarcomas. 61
14553850 2003
45
Cytohistologic correlations in angiosarcoma including classic and epithelioid variants: Institut Curie's experience. 61
12951681 2003
46
Cavernous sinus exenteration for invasive cranial base tumors. 61
12657172 2003
47
Further delineation of the behavioral and neurologic features in Costello syndrome. 61
12605434 2003
48
EVE/cyclosporin (etoposide, vincristine, epirubicin with high-dose cyclosporin)-chemotherapy selected for multidrug resistance modulation. 61
12460787 2002
49
[Reconstruction of anterior skull base defect by pedicle frontal muscle compound flap]. 61
12772460 2002
50
DNA copy number amplifications in sarcomas with homogeneously staining regions and double minutes. 61
11309816 2001

Variations for Rhabdomyosarcoma, Embryonal, 1

ClinVar genetic disease variations for Rhabdomyosarcoma, Embryonal, 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC22A18 NM_002555.6(SLC22A18):c.257G>A (p.Arg86His) SNV Pathogenic 6977 rs78838117 GRCh37: 11:2930440-2930440
GRCh38: 11:2909210-2909210

Cosmic variations for Rhabdomyosarcoma, Embryonal, 1:

9 (show top 50) (show all 619)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM93183630 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 4
2 COSM112255322 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 4
3 COSM122271658 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.337G>T p.G113C 17:7674230-7674230 4
4 COSM145017865 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.616G>A p.G206S 17:7674230-7674230 4
5 COSM142605762 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.754A>C p.K252Q 17:7673749-7673749 4
6 COSM144013587 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.700G>A p.G234S 17:7674230-7674230 4
7 COSM122271355 TP53 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.305A>G p.Y102C 17:7674262-7674262 4
8 COSM143576669 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.551C>G p.P184R 17:7674863-7674863 4
9 COSM106096066 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 4
10 COSM145017326 TP53 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.407G>A p.R136H 17:7675088-7675088 4
11 COSM144544530 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.494A>G p.E165G 17:7674920-7674920 4
12 COSM144020071 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.695T>C p.M232T 17:7674235-7674235 4
13 COSM112297123 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 4
14 COSM93183307 TP53 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.524G>A p.R175H 17:7675088-7675088 4
15 COSM144015364 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.604C>T p.R202* 17:7674894-7674894 4
16 COSM143371076 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.616G>A p.G206S 17:7674230-7674230 4
17 COSM142845635 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 4
18 COSM87906219 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 4
19 COSM93229090 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 4
20 COSM145024780 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.611T>C p.M204T 17:7674235-7674235 4
21 COSM121884328 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.332T>C p.M111T 17:7674235-7674235 4
22 COSM121878773 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.241C>T p.R81* 17:7674894-7674894 4
23 COSM105622516 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 4
24 COSM143386796 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.134A>G p.E45G 17:7674920-7674920 4
25 COSM112446896 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.739A>G p.N247D 17:7674224-7674224 4
26 COSM122105750 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.272C>G p.P91R 17:7674863-7674863 4
27 COSM142838784 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 4
28 COSM143984574 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.394A>C p.K132Q 17:7673749-7673749 4
29 COSM143946062 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.160C>T p.R54* 17:7674894-7674894 4
30 COSM143943565 TP53 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.47G>A p.R16H 17:7675088-7675088 4
31 COSM144651337 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.616G>A p.G206S 17:7674230-7674230 4
32 COSM145221104 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.551C>G p.P184R 17:7674863-7674863 4
33 COSM144120969 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.394A>C p.K132Q 17:7673749-7673749 4
34 COSM122781709 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.475A>C p.K159Q 17:7673749-7673749 4
35 COSM111802670 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 4
36 COSM88149182 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.668C>G p.P223R 17:7674863-7674863 4
37 COSM142570943 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.844A>T p.K282* 17:7673567-7673567 4
38 COSM105620276 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 4
39 COSM142837352 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.743G>A p.R248Q 17:7674220-7674220 4
40 COSM106059837 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 4
41 COSM87949760 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.871A>C p.K291Q 17:7673749-7673749 4
42 COSM143413354 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.754A>C p.K252Q 17:7673749-7673749 4
43 COSM144182541 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.706A>G p.N236D 17:7674224-7674224 4
44 COSM122271749 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.337G>A p.G113S 17:7674230-7674230 4
45 COSM111760544 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.637C>T p.R213* 17:7674894-7674894 4
46 COSM111765613 TP53 soft tissue,striated muscle,rhabdomyosarcoma,alveolar c.728T>C p.M243T 17:7674235-7674235 4
47 COSM143943621 TP53 soft tissue,striated muscle,rhabdomyosarcoma,pleomorphic c.224A>G p.Y75C 17:7674262-7674262 4
48 COSM112264430 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.961A>T p.K321* 17:7673567-7673567 4
49 COSM142771096 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.551C>G p.P184R 17:7674863-7674863 4
50 COSM121876092 TP53 soft tissue,striated muscle,rhabdomyosarcoma,embryonal c.337G>T p.G113C 17:7674230-7674230 4

Expression for Rhabdomyosarcoma, Embryonal, 1

Search GEO for disease gene expression data for Rhabdomyosarcoma, Embryonal, 1.

GO Terms for Rhabdomyosarcoma, Embryonal, 1

Cellular components related to Rhabdomyosarcoma, Embryonal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.62 SLC22A18 ABCB1

Biological processes related to Rhabdomyosarcoma, Embryonal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 8.62 SLC22A18 ABCB1

Molecular functions related to Rhabdomyosarcoma, Embryonal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 8.96 SLC22A18 ABCB1
2 transmembrane transporter activity GO:0022857 8.62 SLC22A18 ABCB1

Sources for Rhabdomyosarcoma, Embryonal, 1

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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