MYL4, myosin light chain 4, 4635

N. diseases: 26; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310636
Disease: ATRIAL FIBRILLATION, FAMILIAL, 18
ATRIAL FIBRILLATION, FAMILIAL, 18
0.500 GeneticVariation disease UNIPROT A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. 27066836 2016
CUI: C4310636
Disease: ATRIAL FIBRILLATION, FAMILIAL, 18
ATRIAL FIBRILLATION, FAMILIAL, 18
0.500 Biomarker disease CTD_human
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.340 AlteredExpression disease BEFREE Higher MYL4 expression was also modestly associated with hypertrophic cardiomyopathy (p = 6.3e-04). 31481666 2019
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.340 Biomarker disease BEFREE Most patients with hypertrophic cardiomyopathy and congenital heart diseases express the atrial essential myosin light chains (ALC-1) in their ventricles, replacing the ventricular essential light chains (VLC-1). 16106982 2005
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.340 Biomarker disease BEFREE ToF patients expressed around four times more ALC-1 mRNA for similar amounts of ALC-1 than HOCM patients. 10440925 1999
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.340 AlteredExpression disease BEFREE Similarly, we investigated the expression of ALC-1 by two-dimensional polyacrylamide gel electrophoresis and the clinical and hemodynamic parameters of the patients with hypertrophic cardiomyopathy. 10569205 1999
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.340 Biomarker disease CTD_human An integrated approach to proteome analysis: identification of proteins associated with cardiac hypertrophy. 9527842 1998
Hypertrophic obstructive cardiomyopathy
0.330 AlteredExpression disease BEFREE Higher MYL4 expression was also modestly associated with hypertrophic cardiomyopathy (p = 6.3e-04). 31481666 2019
Hypertrophic obstructive cardiomyopathy
0.330 Biomarker disease BEFREE Most patients with hypertrophic cardiomyopathy and congenital heart diseases express the atrial essential myosin light chains (ALC-1) in their ventricles, replacing the ventricular essential light chains (VLC-1). 16106982 2005
Hypertrophic obstructive cardiomyopathy
0.330 AlteredExpression disease BEFREE Similarly, we investigated the expression of ALC-1 by two-dimensional polyacrylamide gel electrophoresis and the clinical and hemodynamic parameters of the patients with hypertrophic cardiomyopathy. 10569205 1999
Hypertrophic obstructive cardiomyopathy
0.330 Biomarker disease CTD_human An integrated approach to proteome analysis: identification of proteins associated with cardiac hypertrophy. 9527842 1998
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
0.300 GermlineCausalMutation disease ORPHANET A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. 27066836 2016
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation
0.100 CausalMutation phenotype CLINVAR A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. 27066836 2016
CUI: C0030252
Disease: Palpitations
Palpitations
0.100 Biomarker phenotype HPO
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE
0.100 Biomarker phenotype HPO
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.040 GeneticVariation disease BEFREE A Metastable Atrial State Underlies The Primary Genetic Substrate for MYL4 Mutation-Associated Atrial Fibrillation. 31735076 2020
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.040 GeneticVariation disease BEFREE Rs4968309 in Myosin Light Chain 4 (MYL4) Associated With Atrial Fibrillation Onset and Predicts Clinical Outcomes After Catheter Ablation in Atrial Fibrillation Patients Without Structural Heart Disease. 31406021 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.040 GeneticVariation disease BEFREE We discovered a rare frameshift deletion in the myosin MYL4 gene (c.234delC) that associates with early-onset AF under a recessive mode of inheritance (allelic frequency = 0.58%). 27742809 2017
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
0.040 GeneticVariation disease BEFREE In zebrafish, mutant MYL4 leads to disruption of sarcomeric structure, atrial enlargement and electrical abnormalities associated with human AF. 27066836 2016
CUI: C4021885
Disease: Atrial cardiomyopathy
Atrial cardiomyopathy
0.020 Biomarker disease BEFREE This screen identified connexin 43 hemichannel (HC) blockade, as a robust suppressor of the abnormal phenotypes in both models of MYL4-related atrial cardiomyopathy. 31735076 2020
CUI: C4021885
Disease: Atrial cardiomyopathy
Atrial cardiomyopathy
0.020 Biomarker disease BEFREE We used genetically modified rat models to investigate the role of <i>MYL4</i> in atrial cardiomyopathy. 29080865 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 AlteredExpression disease BEFREE The results revealed that the transcriptional level of ALC1 was not upregulated in breast cancer tissues.CHFR interacted with ALC1. 31322269 2019
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
0.010 GeneticVariation group BEFREE Rs4968309 in Myosin Light Chain 4 (MYL4) Associated With Atrial Fibrillation Onset and Predicts Clinical Outcomes After Catheter Ablation in Atrial Fibrillation Patients Without Structural Heart Disease. 31406021 2019
CUI: C0024312
Disease: Lymphopenia
Lymphopenia
0.010 Biomarker disease BEFREE The 102 patients with ALC1 ≤1,479 cells/μl (defined as lymphopenia) had significantly higher 10-year IBTR rate than the 102 patients with ALC1 >1,479 cells/μl (16.2% vs. 1%, p=0.0034). 31366546 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 Biomarker phenotype BEFREE Furthermore, ALC1 is a new oncogene involved in the invasion and metastasis of breast cancer. 31322269 2019