MYOCD, myocardin, 93649

N. diseases: 79; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.210 Biomarker group MGD
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.200 Biomarker disease MGD
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.210 AlteredExpression group BEFREE Myocardin and HOP mRNA levels were estimated by both northern blot hybridization and semiquantitative RT-PCR in human ventricular preparations in end-stage failure due to dilated cardiomyopathy (DCM), as well as in nonfailing donor hearts. 12920479 2003
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.020 AlteredExpression disease BEFREE Myocardin and HOP mRNA levels were estimated by both northern blot hybridization and semiquantitative RT-PCR in human ventricular preparations in end-stage failure due to dilated cardiomyopathy (DCM), as well as in nonfailing donor hearts. 12920479 2003
CUI: C0018801
Disease: Heart failure
Heart failure 		0.010 AlteredExpression disease BEFREE A possible dual consequence of increased myocardin and decreased HOP expression levels on serum response factor-dependent cardiac-specific expression in the normal heart and at heart failure is discussed. 12920479 2003
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 AlteredExpression disease BEFREE A possible dual consequence of increased myocardin and decreased HOP expression levels on serum response factor-dependent cardiac-specific expression in the normal heart and at heart failure is discussed. 12920479 2003
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		0.300 Biomarker phenotype CTD_human Myocardin induces cardiomyocyte hypertrophy. 16556869 2006
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy 		0.300 Biomarker phenotype CTD_human Myocardin induces cardiomyocyte hypertrophy. 16556869 2006
CUI: C0263630
Disease: Hypertrophic disorder of skin, unspecified
Hypertrophic disorder of skin, unspecified 		0.010 AlteredExpression group BEFREE Consistent with a role for myocardin as a transducer of hypertrophic signals, forced expression of myocardin in cardiomyocytes is sufficient to substitute for hypertrophic signals and induce cardiomyocyte hypertrophy and the fetal cardiac gene program. 16556869 2006
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 AlteredExpression disease BEFREE Thus, SRF-MYOCD overexpression in small cerebral arteries appears to initiate independently of Abeta a pathogenic pathway mediating arterial hypercontractility and CBF dysregulation, which are associated with Alzheimer's dementia. 17215356 2007
CUI: C3665464
Disease: Dementia due to Alzheimer's disease (disorder)
Dementia due to Alzheimer's disease (disorder) 		0.010 Biomarker disease BEFREE MYOCD in vivo gene transfer to mouse pial arteries increased contractile protein content and diminished CBF responses produced by brain activation in wild-type mice and in two AD models, the Dutch/Iowa/Swedish triple mutant human amyloid beta-peptide (Abeta)-precursor protein (APP)- expressing mice and APPsw(+/-) mice.Silencing Srf had the opposite effect. 17215356 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 AlteredExpression group BEFREE Myocardin expression is reduced in multiple types of human tumors. 17292825 2007
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 AlteredExpression group BEFREE Restoration of myocardin expression in sarcoma cells results in differentiation and inhibition of malignant growth, whereas inactivation of myocardin in normal fibroblasts increases their proliferative potential. 17292825 2007
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.020 Biomarker phenotype BEFREE Collectively, our results demonstrate that myocardin is an important suppressive modifier of the malignant transformation process. 17292825 2007
CUI: C0018794
Disease: Heart Block
Heart Block 		0.010 AlteredExpression disease BEFREE Forced myocardin expression also endowed human MSFs with the ability to transmit an action potential and to repair an artificially created conduction block in cardiomyocyte cultures. 17579192 2007
CUI: C0021308
Disease: Infarction
Infarction 		0.010 Biomarker phenotype LHGDN Fibroblasts from human postmyocardial infarction scars acquire properties of cardiomyocytes after transduction with a recombinant myocardin gene. 17579192 2007
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation disease BEFREE Thus, a myocardin promoter allelic variant existing in the normal Cretan population was associated with decreased left ventricular mass in HCM patients and decreased myocardin mRNA levels in peripheral blood. 18028454 2008
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.310 GeneticVariation group BEFREE We identified a rare human sequence variation in MYOCD in a patient with congenital heart disease that resulted in a missense mutation at codon 259 (K259R). 18852265 2008
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 AlteredExpression phenotype BEFREE Myocardin-related transcription factors and SRF are required for cytoskeletal dynamics and experimental metastasis. 19198601 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 AlteredExpression group BEFREE We show here by array-based comparative genomic hybridization, fluorescence in situ hybridization, and expression analysis approaches that MYOCD gene is highly amplified and overexpressed in human retroperitoneal leiomyosarcomas (LMS), a very aggressive well-differentiated tumor. 19276386 2009
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		0.030 AlteredExpression disease BEFREE We show here by array-based comparative genomic hybridization, fluorescence in situ hybridization, and expression analysis approaches that MYOCD gene is highly amplified and overexpressed in human retroperitoneal leiomyosarcomas (LMS), a very aggressive well-differentiated tumor. 19276386 2009
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME 		0.030 Biomarker disease BEFREE Collectively, these results show that human retroperitoneal LMS differentiation is dependent on MYOCD amplification/overexpression, suggesting that in these well-differentiated LMS, differentiation could be a consequence of an acquired genomic alteration. 19276386 2009
CUI: C1863753
Disease: LIMB-MAMMARY SYNDROME
LIMB-MAMMARY SYNDROME 		0.030 Biomarker disease BEFREE Collectively, these results show that human retroperitoneal LMS differentiation is dependent on MYOCD amplification/overexpression, suggesting that in these well-differentiated LMS, differentiation could be a consequence of an acquired genomic alteration. 19276386 2009