ACTN2, actinin alpha 2, 88

N. diseases: 35; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		0.010 GeneticVariation disease BEFREE Whole-Exome Sequencing Identifies a Novel Mutation (p.L320R) of Alpha-Actinin 2 in a Chinese Family with Dilated Cardiomyopathy and Ventricular Tachycardia. 30630173 2019
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 AlteredExpression disease BEFREE The collagen content, mRNA and protein expression levels of α-actinin-2 and the components of the TGF-β1/Smad signaling pathway were significantly gradually increased in the CHD + sinus rhythm, RHD + sinus rhythm and RHD + cAF groups (p < 0.05). 27344599 2018
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		0.010 AlteredExpression disease BEFREE α-Actinin-2 expression was increased in the atrial tissues of patients with AF secondary to RHD. 27344599 2018
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 Biomarker disease BEFREE In recent research, some disease-causing genes and variants have been identified in patients with DCM and CCD, such as Alpha-Actinin-2 and TNNI3 Interacting Kinase (TNNI3K). 29355681 2018
CUI: C0040921
Disease: Trichomonas Infections
Trichomonas Infections 		0.010 Biomarker group BEFREE Role of α-Actinin 2 in Cytoadherence and Cytotoxicity of <i>Trichomonas vaginalis</i>. 28838225 2017
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.010 GeneticVariation disease BEFREE The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant. 27023225 2017
CUI: C1962942
Disease: TRICHOMONAS VAGINALIS (finding)
TRICHOMONAS VAGINALIS (finding) 		0.010 Biomarker disease BEFREE Trichomonas vaginalis α-Actinin 2 Modulates Host Immune Responses by Inducing Tolerogenic Dendritic Cells via IL-10 Production from Regulatory T Cells. 28877568 2017
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 GeneticVariation phenotype BEFREE Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study. 25173926 2014
CUI: C0011334
Disease: Dental caries
Dental caries 		0.010 Biomarker disease BEFREE Given its compelling biological role in organizing ameloblasts during amelogenesis, this study strengthens the hypothesis that ACTN2 influences caries risk. 24810274 2014
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality) 		0.010 Biomarker disease BEFREE Given its compelling biological role in organizing ameloblasts during amelogenesis, this study strengthens the hypothesis that ACTN2 influences caries risk. 24810274 2014
CUI: C0340493
Disease: Paroxysmal familial ventricular fibrillation
Paroxysmal familial ventricular fibrillation 		0.010 GeneticVariation disease BEFREE Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death. 25224718 2014
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.010 GeneticVariation disease BEFREE Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study. 25173926 2014
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 Biomarker disease BEFREE MPD6 elicits IgG Ab responses in a subset of polycythemia vera patients, as well as patients with chronic myelogenous leukemia and prostate cancer, suggesting that it is broadly immunogenic. 16982933 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Three genes, NOS3, alpha-actinin-2 and alpha-catenin, suspected of playing a role in tumor genesis, were explored by quantitative RT-PCR analysis and immunohistochemistry. 15806164 2005
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.010 Biomarker group BEFREE Apart from the well-known Z-disc proteins such as actin, cap-Z, titin, nebulin, and alpha-actinin 2, several other Z-disc proteins have been recently discovered, including telethonin and myotilin that have been linked to limb girdle muscular dystrophies. 11699871 2001
CUI: C3888204
Disease: ACTN3 DEFICIENCY
ACTN3 DEFICIENCY 		0.010 Biomarker disease BEFREE Absence of alpha-actinin-3 is not associated with an obvious disease phenotype, raising the possibility that ACTN3 is functionally redundant in humans, and that alpha-actinin-2 is able to compensate for alpha-actinin-3 deficiency. 11440986 2001
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.020 GeneticVariation disease BEFREE Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy. 31680489 2019
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.020 GeneticVariation disease BEFREE Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. 20022194 2010
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.030 GeneticVariation disease BEFREE We identified a rare c.740C>T (p.T247M) mutation in ACTN2, encoding α-actinin 2 in a HCM patient, who presented with left ventricular hypertrophy, outflow tract obstruction, and atrial fibrillation. 31680489 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.030 Biomarker disease BEFREE Increased α-Actinin-2 Expression in the Atrial Myocardium of Patients with Atrial Fibrillation Related to Rheumatic Heart Disease. 27344599 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.030 GeneticVariation disease BEFREE A targeted next-generation sequencing approach allowed the identification of a novel ACTN2 variant associated with midapical HCM and juvenile onset of atrial fibrillation, emphasizing the potential of such approach in HCM diagnostic screening. 25173926 2014
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.100 Biomarker disease HPO
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		0.100 Biomarker phenotype HPO
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.100 GeneticVariation disease CLINVAR