MYL9, myosin light chain 9, 10398

N. diseases: 52; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.030 GeneticVariation disease BEFREE As an example, IG-SVM achieved a classification accuracy of 90.32% for colon cancer, which is difficult to be accurately classified, only based on three genes including CSRP1, MYL9, and GUCA2B. 29246519 2017
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.030 GeneticVariation disease BEFREE As an example, IG-SVM achieved a classification accuracy of 90.32% for colon cancer, which is difficult to be accurately classified, only based on three genes including CSRP1, MYL9, and GUCA2B. 29246519 2017
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.030 GeneticVariation disease BEFREE This study focuses on the aspartic acid to valine substitution (D166V) in the myosin RLC shown to be associated with a malignant phenotype of familial hypertrophic cardiomyopathy (FHC). 24374283 2014
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.030 GeneticVariation disease BEFREE The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice. 16076902 2005
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.020 GeneticVariation disease BEFREE This study focuses on the aspartic acid to valine substitution (D166V) in the myosin RLC shown to be associated with a malignant phenotype of familial hypertrophic cardiomyopathy (FHC). 24374283 2014
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation disease BEFREE In summary, even though R58Q expression was restricted to the heart of mice, functional similarities were clearly observed between the hearts and slow-twitch skeletal muscle, suggesting that MYL2 mutated models of hypertrophic cardiomyopathy may be useful research tools to study the molecular, structural, and energetic mechanisms of cardioskeletal myopathy associated with myosin RLC.-Kazmierczak, K., Liang, J., Yuan, C.-C., Yadav, S., Sitbon, Y. H., Walz, K., Ma, W., Irving, T. C., Cheah, J. X., Gomes, A. V., Szczesna-Cordary, D. Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain. 30365366 2019
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 GeneticVariation disease BEFREE Three proteins, collapsin response mediator protein 2 (CRMP2), ubiquitin carboxyl-terminal hydrolase isozyme L1 (UCH-L1) and myosin regulatory light polypeptide 9 (MYL9), were simultaneously identified from the two sets of samples from females with or without endometriosis by two-dimensional electrophoresis (2-DE). 23670619 2013
CUI: C0026848
Disease: Myopathy
Myopathy 		0.010 GeneticVariation group BEFREE In summary, even though R58Q expression was restricted to the heart of mice, functional similarities were clearly observed between the hearts and slow-twitch skeletal muscle, suggesting that MYL2 mutated models of hypertrophic cardiomyopathy may be useful research tools to study the molecular, structural, and energetic mechanisms of cardioskeletal myopathy associated with myosin RLC.-Kazmierczak, K., Liang, J., Yuan, C.-C., Yadav, S., Sitbon, Y. H., Walz, K., Ma, W., Irving, T. C., Cheah, J. X., Gomes, A. V., Szczesna-Cordary, D. Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain. 30365366 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 GeneticVariation group BEFREE Pseudo-phosphorylation of cardiac myosin regulatory light chain (RLC) has never been examined as a rescue method to alleviate a cardiomyopathy phenotype brought about by a disease causing mutation in the myosin RLC. 24374283 2014
CUI: C1858854
Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 		0.010 GeneticVariation disease BEFREE Mutations of the gene encoding hepatic and glial cell adhesion molecule (HEPACAM) located on 11q24 are related to one of the leukoencephalopathies: megalencephalic leukoencephalopathy with subcortical cysts type 2 (MLC2). 26193381 2015
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.010 GeneticVariation disease BEFREE In summary, even though R58Q expression was restricted to the heart of mice, functional similarities were clearly observed between the hearts and slow-twitch skeletal muscle, suggesting that MYL2 mutated models of hypertrophic cardiomyopathy may be useful research tools to study the molecular, structural, and energetic mechanisms of cardioskeletal myopathy associated with myosin RLC.-Kazmierczak, K., Liang, J., Yuan, C.-C., Yadav, S., Sitbon, Y. H., Walz, K., Ma, W., Irving, T. C., Cheah, J. X., Gomes, A. V., Szczesna-Cordary, D. Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain. 30365366 2019
CUI: C0006114
Disease: Cerebral Edema
Cerebral Edema 		0.300 Biomarker phenotype CTD_human Inhibition of the myosin light chain kinase prevents hypoxia-induced blood-brain barrier disruption. 17419808 2007
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		0.300 Biomarker group CTD_human Regulation of myosin light chain kinase expression by angiotensin II in hypertension. 18511912 2008
CUI: C0472387
Disease: Vasogenic Cerebral Edema
Vasogenic Cerebral Edema 		0.300 Biomarker phenotype CTD_human Inhibition of the myosin light chain kinase prevents hypoxia-induced blood-brain barrier disruption. 17419808 2007
CUI: C0472388
Disease: Cytotoxic Cerebral Edema
Cytotoxic Cerebral Edema 		0.300 Biomarker phenotype CTD_human Inhibition of the myosin light chain kinase prevents hypoxia-induced blood-brain barrier disruption. 17419808 2007
CUI: C0750969
Disease: Vasogenic Brain Edema
Vasogenic Brain Edema 		0.300 Biomarker phenotype CTD_human Inhibition of the myosin light chain kinase prevents hypoxia-induced blood-brain barrier disruption. 17419808 2007
CUI: C0750970
Disease: Cytotoxic Brain Edema
Cytotoxic Brain Edema 		0.300 Biomarker phenotype CTD_human Inhibition of the myosin light chain kinase prevents hypoxia-induced blood-brain barrier disruption. 17419808 2007
CUI: C1527311
Disease: Brain Edema
Brain Edema 		0.300 Biomarker phenotype CTD_human Inhibition of the myosin light chain kinase prevents hypoxia-induced blood-brain barrier disruption. 17419808 2007
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.030 Biomarker disease BEFREE Colon cancer cell-derived 12(S)-HETE induces the retraction of cancer-associated fibroblast via MLC2, RHO/ROCK and Ca<sup>2+</sup> signalling. 28013338 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 Biomarker phenotype BEFREE Comparative transcriptomic analysis and real-time PCR analysis showed that expression of signaling molecules regulating several tumor properties including migration (MYL9), metastasis (CEACAM6, VEGFC, CX3CL1, CST1, CCL5, S100A9, IGF1, NOTCH3), adhesion (FN1, CEACAM1) and inflammation (TRAF2, NFκB2 and RelB) were altered in A549L6 cells. 26090868 2015
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 Biomarker phenotype BEFREE Myosin light chain 9 (MYL9) is necessary for cytoskeletal dynamics and experimental metastasis, but its expression in esophageal squamous cell carcinoma (ESCC) has not been addressed. 28388691 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 Biomarker group BEFREE And then, the expression levels of two selected genes in the down-regulated co-pathways, myosin light chain kinase (MYLK) and myosin regulatory light chain 9 (MYL9), were determined in tumor, paired paraneoplastic, and normal lung tissues. 25179839 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 Biomarker group BEFREE The significance for pVHL function of two further genes upregulated by wild-type pVHL was initially unclear, but re-expression of GNG4 (G protein gamma-4 subunit/guanine nucleotide-binding protein-4) and MLC2 (myosin light chain) in a RCC cell line suppressed tumour cell growth. pVHL regulation of CDKN1C, SPARC and GNG4 was not mimicked by hypoxia, whereas for six of 11 novel targets analysed (including DOC-2/DAB2 and MLC2) the effects of pVHL inactivation and hypoxia were similar. 15824735 2005
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.030 Biomarker disease BEFREE Colon cancer cell-derived 12(S)-HETE induces the retraction of cancer-associated fibroblast via MLC2, RHO/ROCK and Ca<sup>2+</sup> signalling. 28013338 2017