MYOD1, myogenic differentiation 1, 4654

N. diseases: 106; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 GeneticVariation disease BEFREE Rhabdomyosarcomas are malignancies associated with a rhabdomyoblastic phenotype which can be demonstrated morphologically or by immunohistochemistry for MYOD1 and myogenin. 31696361 2020
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 GeneticVariation disease BEFREE We investigated 30 cases of MYOD1-mutant rhabdomyosarcoma (12 previously reported and 18 newly diagnosed) with an age range of 2-94 years, including 15 children. 30181563 2019
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 GeneticVariation disease BEFREE The expanding morphological and genetic spectrum of MYOD1-mutant spindle cell/sclerosing rhabdomyosarcomas: a clinicopathological and molecular comparison of mutated and non-mutated cases. 30604891 2019
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 GeneticVariation disease BEFREE Cases were wild type for MYOD1 and no other mutations or rearrangements characteristic of a known subtype of rhabdomyoma or rhabdomyosarcoma were identified. 30287926 2019
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 AlteredExpression disease BEFREE High MyoD1 expression (≥51% tumor cells) was seen in more cases of pure sclerosing, combined with spindle cell/sclerosing RMSs (10/10, 100%), as compared to the other subtypes (91/141, 67.4%) (p = 0.032). 30098515 2018
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 Biomarker disease BEFREE Our data support unappreciated and dominant oncogenic roles for MYF5 and MYOD convergence on common transcriptional targets to regulate human RMS growth. 28080960 2017
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 GeneticVariation disease BEFREE Clinically, a striking correlation was found between MYOD1 mutation and the clinical outcomes available for 15 of 21 cases: 5 of 7 patients with spindle cell and sclerosing rhabdomyosarcomas, harboring MYOD1 mutation, were alive-with-disease and 2 of 8 patients with spindle cell and sclerosing rhabdomyosarcomas, with mutant MYOD1, were free-of-disease. 27562493 2016
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 Biomarker disease BEFREE A clinicopathologic study of head and neck rhabdomyosarcomas showing FOXO1 fusion-positive alveolar and MYOD1-mutant sclerosing are associated with unfavorable outcome. 27688110 2016
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 GeneticVariation disease BEFREE From the investigated 17 samples, seven (41%) showed homozygous mutation of MYOD1, indicating a critical role in this rare subtype of adult spindle cell RMS, while no mutations were found in any of the other genes involved in myogenic differentiation. 24272621 2014
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 GeneticVariation disease BEFREE Thus, MYOD1 p.Leu122Arg defines a subset of rhabdomyosarcomas eligible for high-risk protocols and the development of targeted therapeutics. 24793135 2014
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 GeneticVariation disease BEFREE Recurrent MYOD1 mutations in pediatric and adult sclerosing and spindle cell rhabdomyosarcomas: evidence for a common pathogenesis. 24824843 2014
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 AlteredExpression disease BEFREE Overexpression of the chimera led to continuous expression of MYOD and MYOG-two myogenic markers that are overexpressed in rhabdomyosarcoma cells. 24089019 2013
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 AlteredExpression disease BEFREE Amongst the transcripts differentially expressed in the RD cells, MYOD and MYOG (2 fold, p<0.05), and six MYOD downstream targets were up-regulated in RD but not C2C12 cells. 23717650 2013
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 Biomarker disease LHGDN Polyclonal desmin and muscle-specific actin were variably immunoreactive in UESL and RMS; however, myogenin and myogenic regulatory protein D1 (MyoD1) were uniformly negative in UESL and routinely positive in the majority of biliary tract RMS. 17378682 2007
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 AlteredExpression disease BEFREE We have performed the RT-PCR assay to analyze RMS for the presence of expression of MyoD1 gene and for the presence of chimeric transcripts PAX3/FKHR or PAX7/FKHR. 16365729 2006
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 AlteredExpression disease LHGDN Detection of bone marrow micrometastasis and microcirculating disease in rhabdomyosarcoma by a real-time RT-PCR assay. 16435141 2006
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 AlteredExpression disease BEFREE Notably, we found that MyoD1, known as a marker for RMS, was not expressed in the KYM-1 cell line as well as MRT cell lines and fresh tumors. 11921280 2002
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 AlteredExpression disease BEFREE Although the focal alveolar architecture and the primitive cytologic appearance of these hyalinizing RMS suggest a relationship with ARMS, the presence of abundant strap cells in one case, the predominant expression of MyoD1 rather than myogenin, and the absence of ARMS-associated fusions genes point more strongly toward a variant of ERMS. 12218574 2002
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 AlteredExpression disease BEFREE We report here that MyoD1 mRNA is not specific for RMS, but can be amplified from ex vivo samples of many other childhood tumors and some normal tissues. 11272905 1999
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 AlteredExpression disease BEFREE We detected the MyoD1 transcript in normal skeletal muscle and in almost all RMSs, whereas no expression was found in non-RMS samples or in normal hematopoietic tissues. 9466584 1998
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 PosttranslationalModification disease BEFREE Our data suggest that the methylation status of the MyoD1 upstream CpG sites may be related to rhabdomyosarcoma tumorigenesis and may have valuable implications for its differential diagnosis. 9546368 1998
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 Biomarker disease BEFREE Furthermore, the regulatory-gene analyses indicated that these 2 sublines represented 2 distinct differentiation stages of myoblasts, and that MyoD1 and myogenin could serve as the lineage marker and the differentiation marker, respectively, of human rhabdomyosarcoma. 1313401 1992
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 GeneticVariation disease BEFREE Further, these analyses identify two syntenic clusters of muscle-associated genes on the short arm of human chromosome 11, one in the region of rhabdomyosarcoma locus that includes IGF2 and TH and the second the tightly linked MYOD1 and LDHA loci, which have been evolutionarily conserved in homologous regions of both the mouse and the rat genomes. 2315312 1990
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 Biomarker disease BEFREE Transfection of the mouse MyoD1 gene into the human rhabdomyosarcoma cell line RD increased the ability of the tumor cells to differentiate into multinucleated myotubes and enhanced myosin heavy-chain gene expression but did not decrease tumorigenicity in nude mice. 2601695 1989
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.400 CausalMutation disease CGI