FLNC, filamin C, 2318

N. diseases: 132; N. variants: 56
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4531288
Disease: Abnormal morphology of left ventricular trabeculae
Abnormal morphology of left ventricular trabeculae 		0.100 CausalMutation phenotype CLINVAR
CUI: C4025831
Disease: Abnormal peripheral nervous system morphology
Abnormal peripheral nervous system morphology 		0.100 Biomarker disease HPO
CUI: C4021264
Disease: Abnormal ventricular septum morphology
Abnormal ventricular septum morphology 		0.100 CausalMutation disease CLINVAR
CUI: C4021779
Disease: Abnormality of the calf musculature
Abnormality of the calf musculature 		0.100 Biomarker disease HPO
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.010 Biomarker disease BEFREE We conclude that the 1011A allele of MBL may contribute to elevated plasma MBL levels and activity and to increased severity of the disease markers in patients of bronchial asthma with allergic rhinitis and ABPA. 16487239 2006
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		0.010 Biomarker disease BEFREE Furthermore, we demonstrated that splicing of 4 key sarcomere genes, cardiac troponin T (TNNT2), cardiac troponin I (TNNI3), myosin heavy chain 7 (MYH7), and filamin C, gamma (FLNC), was significantly altered in ischemic cardiomyopathy and in dilated cardiomyopathy and aortic stenosis. 20124440 2010
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.020 GeneticVariation disease BEFREE Recent evidence indicates that ARVC and ACM caused by pathogenic variants in the FLNC gene encoding filamin C, a major cardiac structural protein, may have different molecular mechanisms of pathogenesis. 31843279 2020
CUI: C0349788
Disease: Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic Right Ventricular Dysplasia 		0.020 GeneticVariation disease BEFREE At the molecular level, the pathogenic mechanism related to FLNC appears different to classic forms of ARVC caused by desmosomal mutations. 31627847 2019
CUI: C0004030
Disease: Aspergillosis
Aspergillosis 		0.010 GeneticVariation disease BEFREE Four cases were diagnosed as angioinvasive aspergillosis complicated with ABPA, three cases as IPA overlap aspergilloma, and two cases as ABPA with AWIA. 29067630 2018
CUI: C0004031
Disease: Aspergillosis, Allergic Bronchopulmonary
Aspergillosis, Allergic Bronchopulmonary 		0.010 Biomarker disease BEFREE Seventy children had ABPA based on the Rosenberg-Patterson Criteria (Cases) whereas 70 children were without ABPA (Controls). 31152616 2019
CUI: C0004096
Disease: Asthma
Asthma 		0.030 Biomarker disease BEFREE We conclude that the 1011A allele of MBL may contribute to elevated plasma MBL levels and activity and to increased severity of the disease markers in patients of bronchial asthma with allergic rhinitis and ABPA. 16487239 2006
CUI: C0004096
Disease: Asthma
Asthma 		0.030 Biomarker disease BEFREE Asthma is common in Egypt, affecting 9.4% of adults, 5.35 million, and so ABPA and SAFS were estimated in around 162/100,000 and 214/100,000 respectively. 28213689 2017
CUI: C0004096
Disease: Asthma
Asthma 		0.030 Biomarker disease BEFREE These associations differ from those found in ABPA in asthma, indicative of contrasting disease processes. 28371335 2017
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax 		0.100 CausalMutation phenotype CLINVAR
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.100 CausalMutation disease CLINVAR
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 AlteredExpression phenotype BEFREE Our results reveal a novel mechanism by which the cytoskeletal protein FLNC enhances the mitogen-activated protein kinase signaling pathway during tumorigenesis. 27919788 2017
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 PosttranslationalModification group BEFREE Of the seven genes that showed cancer-specific methylation, FLNC was more frequently methylated in metastatic gastric carcinomas than in their primary counterparts (p=0.004). 19360301 2009
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.020 GeneticVariation phenotype BEFREE The authors report for the first time a novel mutation in the FLNC gene associated with cardiac arrhythmias in two half-siblings. 30118858 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.020 GeneticVariation phenotype BEFREE ACM associated with FLNC variants presents with a distinctive phenotype characterized by Holter arrhythmia and LGE on CMRI with unremarkable ECG and echocardiographic findings. 31627847 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.200 Biomarker group BEFREE The involvement of filamin C in ACM demonstrates the genetic overlap between ACM and other types of cardiomyopathy. 29543670 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.200 GeneticVariation group BEFREE The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies. 27908349 2016
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.200 GeneticVariation group CLINVAR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.200 GeneticVariation group BEFREE Pathogenic variants in the filamin C (FLNC) gene are associated with inherited cardiomyopathies including dilated cardiomyopathy with an arrhythmogenic phenotype. 31627847 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.200 GeneticVariation group BEFREE In 3 individuals, WGS identified variants in genes implicated in cardiomyopathy but not included in prior panel testing: a pathogenic protein tyrosine phosphatase, non-receptor type 11 (<i>PTPN11</i>) variant and variants of uncertain significance in integrin-linked kinase (<i>ILK</i>) and filamin-C (<i>FLNC</i>). 29030401 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.200 Biomarker group HPO