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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.370 Biomarker group BEFREE As well as identifying genes showing aberrant DNA methylation in certain HN subtypes, we also detected six genes--DBC1, DIO3, FZD9, HS3ST2, MOS, and MYOD1--that were significantly hypermethylated in B-cell, T-cell, and myeloid malignancies. 19750229 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.370 Biomarker group BEFREE Moreover, PUM target mRNAs impinge on human disease genes linked to cancer, neurological disorders and cardiovascular disease. 29165587 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.370 CausalMutation group CGI
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.370 Biomarker group BEFREE Our findings suggest that acting, at least in part, through SPIN1 and SPIN3, PUM proteins contribute to a mechanism promoting normal human male germ cell apoptotic status and thus preventing cancer. 30197756 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.370 Biomarker group BEFREE Using four different groups of biopsies obtained from gastric body without history of H. pylori infection (Hp-), gastric body without cancer after H. pylori eradication (cancer-free body), gastric body with early gastric cancer diagnosed after H. pylori eradication (EGC body) and their paired samples from adjacent mucosa of cancer (EGC ADJ), methylation status of five candidate genes (MYOD1, SLC16A12, IGF2, RORA and PRDM5) was examined by the bisulfite pyrosequencing. 29978464 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.370 PosttranslationalModification group BEFREE MYOD1 promoter methylation occurs in various malignancies including colorectal cancer. 14767572 2004
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.370 PosttranslationalModification group BEFREE It is concluded that the detection of increased Myf-3 methylation is a sensitive and specific test of malignancy which may complement other molecular methods that are currently used for the assessment of clonality. 11368360 2001
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.370 GeneticVariation group BEFREE Rhabdomyosarcomas are malignancies associated with a rhabdomyoblastic phenotype which can be demonstrated morphologically or by immunohistochemistry for MYOD1 and myogenin. 31696361 2020
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.200 Biomarker group RGD Age-associated disruption of molecular clock expression in skeletal muscle of the spontaneously hypertensive rat. 22076133 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Detection of the MyoD1 transcript in rhabdomyosarcoma cell lines and tumor samples by reverse transcription polymerase chain reaction. 9466584 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Genetically, a subset of the congenital cases display NCOA2 gene rearrangements, whereas tumors occurring in older children or adults harbor MYOD1 gene mutations with or without coexisting PIK3CA mutations. 26501226 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group 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: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE A comparison of MyoD1 and fetal acetylcholine receptor expression in childhood tumors and normal tissues: implications for the molecular diagnosis of minimal disease in rhabdomyosarcomas. 11272905 1999
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE In conclusion, we report 2 novel fusions (PAX3-WWTR1 and PAX3-NCOA2) in BSNS and show that MyoD1 is more sensitive than myogenin for demonstrating myogenic differentiation in this tumor. 30829729 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE The human tumour-associated epithelial mucins are coded by an expressed hypervariable gene locus PUM. 3600778 1987
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Expression of the human homolog of MyoD1 therefore can define a tumor as a rhabdomyosarcoma. 2601695 1989
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Expression of the hypervariable PUM locus in normal and malignant lung: the tumor-associated epitopes are present but masked in normal tissue. 2458884 1988
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Here we report the discovery, through whole-exome sequencing, of a recurrent somatic mutation encoding p.Leu122Arg in the myogenic transcription factor MYOD1 in a distinct subset of ERMS tumors with poor outcomes that also often contain mutations altering PI3K-AKT pathway components. 24793135 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The methylation status of 2 age-related loci (ESR1 and MYOD1) and global methylation (the mean of Alu and Sat2) in the normal colonic mucosa of 156 patients with and without colorectal neoplasia were examined. 19733896 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 PosttranslationalModification group BEFREE MYOD1 promoter methylation was detectable in all samples and was significantly higher in tumor compared to normal mucosa, where the median level of methylation was 5.3 PMR (range 0.03-133.4) in normal mucosa and 42.3 PMR (range 0.44-742.9) in tumor. 14767572 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Northern analysis of tumour RNA has been used to examine the expression of members of the myf family of muscle determining genes (myf3, myf4, myf5 and myf6) in a series of 20 rhabdomyosarcomas. 1764365 1991
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Because the rhabdomyosarcoma locus maps to 11p15.5, MYOD1 is very unlikely to be the primary site of alteration in these tumors. 2315312 1990
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.040 PosttranslationalModification group BEFREE Using Southern blot analysis, we examined methylation of Myf-3 in histologically normal colonic mucosae, adenomas and carcinomas from a large series of patients with primary colorectal cancer. 10096240 1999
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.040 Biomarker group BEFREE One third of the carcinomas contained hypermethylated Myf-3. 8712752 1996
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.040 GeneticVariation group BEFREE Changes in the methylation status of the MyoD1 locus were not seen in any of ten cystadenomas analysed but were present in five of ten LMP tumours and in five of ten carcinomas (P = 0.03). 9020485 1997