Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18
0.400 Biomarker disease HPO
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
0.180 Biomarker disease HPO
Entrez Id: 10085
Gene Symbol: EDIL3
EDIL3
0.010 Biomarker disease BEFREE In the cytogenetic analysis of an embryonal rhabdomyosarcoma after short-term culture, individual cells were found to contain multiple copies of chromosomes #2, #6, #8, #12, #13, #18, #20 and #21, and del(1)(:p21----qter). 3965122 1985
Entrez Id: 2735
Gene Symbol: GLI1
GLI1
0.030 Biomarker disease BEFREE The tumor with gli gene amplification lacked the usual histological features of alveolar or embryonal rhabdomyosarcoma; however, ultrastructural analysis of tumor cells established in culture revealed attenuated sarcomeres, resembling those found in primitive rhabdomyoblasts. 2766305 1989
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
0.020 GeneticVariation disease BEFREE Detection of point mutations in N-ras and K-ras genes of human embryonal rhabdomyosarcomas using oligonucleotide probes and the polymerase chain reaction. 2680062 1989
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.020 Biomarker disease BEFREE An antibody directed at the alpha and gamma isoforms of actin, which are present in smooth and striated muscle, produced a distinct positive staining in all the alveolar and embryonal rhabdomyosarcomas and in 8/18 small and dark cell malignancies, 7 of which were also shown to express desmin. 2282206 1990
Entrez Id: 6609
Gene Symbol: SMPD1
SMPD1
0.010 Biomarker disease BEFREE The human ASM gene was assigned by somatic cell analysis with human (ASM1) and rat (Asm15) probes to chromosome 11, and by in situ hybridization with the human probe to 11p15, a chromosome region involved in human embryonal rhabdomyosarcomas. 1953776 1991
Entrez Id: 283120
Gene Symbol: H19
H19
0.010 Biomarker disease BEFREE The human ASM gene was assigned by somatic cell analysis with human (ASM1) and rat (Asm15) probes to chromosome 11, and by in situ hybridization with the human probe to 11p15, a chromosome region involved in human embryonal rhabdomyosarcomas. 1953776 1991
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
0.040 GeneticVariation disease BEFREE Although a limited number of cases were sampled, we conclude that study of H-ras-1 mutations may be relevant to MFH and ER. 8483882 1993
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.020 Biomarker disease BEFREE In most cases, they can be distinguished from lymphoma (leucocyte common antigen, B and T markers) and embryonal rhabdomyosarcoma (muscle specific actin, desmin). 8183732 1993
Entrez Id: 1674
Gene Symbol: DES
DES
0.020 Biomarker disease BEFREE In most cases, they can be distinguished from lymphoma (leucocyte common antigen, B and T markers) and embryonal rhabdomyosarcoma (muscle specific actin, desmin). 8183732 1993
Entrez Id: 3376
Gene Symbol: IARS1
IARS1
0.010 GeneticVariation disease BEFREE Flow-cytometric techniques were used to estimate the ploidy of tumor specimens from 34 patients with embryonal rhabdomyosarcoma who were enrolled in the intergroup rhabdomyosarcoma study III (IRS III) from 1985 to 1991. 8410116 1993
Entrez Id: 27335
Gene Symbol: EIF3K
EIF3K
0.010 GeneticVariation disease BEFREE In most cases, they can be distinguished from lymphoma (leucocyte common antigen, B and T markers) and embryonal rhabdomyosarcoma (muscle specific actin, desmin). 8183732 1993
Entrez Id: 3481
Gene Symbol: IGF2
IGF2
0.040 Biomarker disease BEFREE Insulin-like growth factor II (IGF-II) acts as autocrine growth and motility factor in human rhabdomyosarcoma cell lines, and Northern blot analysis of tumor biopsy specimens from both alveolar and embryonal rhabdomyosarcoma demonstrates high levels of IGF-II mRNA expression. 8116575 1994
Entrez Id: 7054
Gene Symbol: TH
TH
0.010 GeneticVariation disease BEFREE A new highly polymorphic DNA restriction site marker in the 5' region of the human tyrosine hydroxylase gene (TH) detecting loss of heterozygosity in human embryonal rhabdomyosarcoma. 7510263 1994
Entrez Id: 10518
Gene Symbol: CIB2
CIB2
0.010 PosttranslationalModification disease BEFREE To test this we have characterized total and allele-specific mRNA expression levels and DNA methylation of the 11p15.5 KIP2 gene in normal human tissues, WTs and embryonal rhabdomyosarcoma (RMS). 8842727 1996
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
0.010 PosttranslationalModification disease BEFREE To test this we have characterized total and allele-specific mRNA expression levels and DNA methylation of the 11p15.5 KIP2 gene in normal human tissues, WTs and embryonal rhabdomyosarcoma (RMS). 8842727 1996
Entrez Id: 5002
Gene Symbol: SLC22A18
SLC22A18
0.400 GeneticVariation disease ORPHANET 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. 9520460 1998
Entrez Id: 4654
Gene Symbol: MYOD1
MYOD1
0.370 GeneticVariation disease BEFREE In this study, distinct methylation alterations were identified in the 5' flanking region of the MyoD1 gene from the two major subtypes, ie, alveolar and embryonal rhabdomyosarcoma. 9546368 1998
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
0.100 GeneticVariation disease BEFREE With the use of Southern blot methodology, genomic rearrangements of PAX3 intron 7 were detected in 23 of 23 fusion-positive alveolar rhabdomyosarcomas and were not detected in 19 fusion-negative embryonal rhabdomyosarcomas. 9530337 1998
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
0.100 AlteredExpression disease BEFREE A sample from a patient with a diagnosis of embryonal rhabdomyosarcoma on presentation and expression of PAX3-FKHR fusion transcript yielded a small focus of alveolar rhabdomyosarcoma and was reclassified as alveolar rhabdomyosarcoma. 10718207 2000
Entrez Id: 2308
Gene Symbol: FOXO1
FOXO1
0.100 AlteredExpression disease BEFREE A sample from a patient with a diagnosis of embryonal rhabdomyosarcoma on presentation and expression of PAX3-FKHR fusion transcript yielded a small focus of alveolar rhabdomyosarcoma and was reclassified as alveolar rhabdomyosarcoma. 10718207 2000
Entrez Id: 4656
Gene Symbol: MYOG
MYOG
0.050 Biomarker disease BEFREE One of two embryonal rhabdomyosarcomas that strongly stained for myogenin was retrospectively found to be positive for Pax3/FKHR transcripts. 10666368 2000
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.040 Biomarker disease BEFREE Chromosome 17 loss correlates well with previous descriptions of frequent allelic loss of 17p (TP53) in E-RMS. 10719362 2000
Entrez Id: 80316
Gene Symbol: PPP1R2C
PPP1R2C
0.010 Biomarker disease BEFREE In this investigation, 12 E-RMS specimens from 10 patients entered into Intergroup Rhabdomyosarcoma Study (IRS) I-IV and two local patients were analyzed by CGH and fluorescence in situ hybridization (FISH). 10719362 2000