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: 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: 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: 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: 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: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma
0.100 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: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma
0.100 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: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
0.100 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: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
0.100 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 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: C1266134
Disease: Spindle cell rhabdomyosarcoma
Spindle cell rhabdomyosarcoma
0.030 GeneticVariation disease BEFREE Spindle cell rhabdomyosarcoma (RMS) is an aggressive sarcoma type with a predilection for the head and neck and frequent transactivating MYOD1 mutations. 31107719 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 GeneticVariation phenotype BEFREE At final follow-up (median = 13.5 months), recurrences (n = 4), metastases (n = 2) or both (n = 1) occurred in seven MYOD1-mutant cases; one had died of disease. 30604891 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.020 GeneticVariation group BEFREE Spindle cell rhabdomyosarcoma (RMS) is an aggressive sarcoma type with a predilection for the head and neck and frequent transactivating MYOD1 mutations. 31107719 2019
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
0.020 GeneticVariation group BEFREE Spindle cell rhabdomyosarcoma (RMS) is an aggressive sarcoma type with a predilection for the head and neck and frequent transactivating MYOD1 mutations. 31107719 2019
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 Biomarker disease BEFREE Here, we report a novel MYOD1-converted, urine-derived cells (UDCs) as a novel DMD muscle cell model. 30846748 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 AlteredExpression disease BEFREE However, functions for MyoD1 in GC cell migration and gene expression have not been documented. 31831855 2019
CUI: C0035411
Disease: Rhabdomyoma
Rhabdomyoma
0.010 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: C0231341
Disease: Premature aging syndrome
Premature aging syndrome
0.010 Biomarker disease BEFREE <i>NORAD</i> acts as a negative regulator of PUMILIO (PUM) proteins in the cytoplasm, and we previously showed that loss of <i>NORAD</i> or PUM hyperactivity results in genome instability and premature aging in mice (Kopp et al., 2019). 31343408 2019
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.010 Biomarker phenotype BEFREE <i>NORAD</i> acts as a negative regulator of PUMILIO (PUM) proteins in the cytoplasm, and we previously showed that loss of <i>NORAD</i> or PUM hyperactivity results in genome instability and premature aging in mice (Kopp et al., 2019). 31343408 2019
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 AlteredExpression disease BEFREE However, functions for MyoD1 in GC cell migration and gene expression have not been documented. 31831855 2019
CUI: C1135188
Disease: Critical illness myopathy
Critical illness myopathy
0.010 AlteredExpression disease BEFREE Upstream regulator analysis revealed that the CIM signature could be a result of the activation of MYOD1, p38 MAPK, or treatment with dexamethasone. 30992050 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 Biomarker phenotype BEFREE We show that knockdown of MyoD1 promoted migration and invasion of GC cells, whereas MyoD1 overexpression suppressed migration and invasion. 31831855 2019
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm
0.010 GeneticVariation group BEFREE At final follow-up (median = 13.5 months), recurrences (n = 4), metastases (n = 2) or both (n = 1) occurred in seven MYOD1-mutant cases; one had died of disease. 30604891 2019