Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.100 GeneticVariation disease BEFREE Expression of the nonstructural protein (NS)3/4A protease in cells infected with hepatitis C virus (HCV) results in cleavage of the mitochondrial antiviral-signaling protein (MAVS) and disruption of signaling pathways that lead to viral activation of interferon regulatory factor 3 (IRF-3) and synthesis of type 1 interferons (IFN-alpha/beta). 18725224 2008
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.100 GeneticVariation disease BEFREE A dominant active mutant of interferon (IFN) regulatory factor 7 (IRF7) and a negative regulator of HCV replication, VAP-C (Vesicle-associated membrane protein-associated protein subtype C), were fused with the C-terminal region of IPS-1 (IFNβ promoter stimulator-1), which includes an HCV protease cleavage site that was modified to be localized on the ER membrane, and designated cIRF7 and cVAP-C, respectively. 21253612 2011
CUI: C0042769
Disease: Virus Diseases
Virus Diseases
0.100 GeneticVariation group BEFREE Relatively weak inducible IFN-β production in HBV infected patients with IPS-1 rs7269320 SNP or wild-type may contribute to chronic virus infection. 30930359 2019
MRSA - Methicillin resistant Staphylococcus aureus infection
0.100 GeneticVariation disease BEFREE In addition, agar dilution (MTT) helps to investigate outbreaks of methicillin-resistant Staphylococcus aureus (MRSA), VISA or VRSA. 31206950 2019
MRSA - Methicillin resistant Staphylococcus aureus infection
0.100 GeneticVariation disease BEFREE Traditionally, it has been used as a drug of last resort; however, clinical isolates of methicillin-resistant Staphylococcus aureus (MRSA) strains with decreased susceptibility to vancomycin (vancomycin intermediate-resistant S. aureus [VISA]) and more recently with high-level vancomycin resistance (vancomycin-resistant S. aureus [VRSA]) have been described in the clinical literature. 24983424 2014
MRSA - Methicillin resistant Staphylococcus aureus infection
0.100 GeneticVariation disease BEFREE An isolate of the methicillin-resistant Staphylococcus aureus (MRSA) clone USA300 with reduced susceptibility to vancomycin (SG-R) (i.e, vancomycin-intermediate S. aureus, VISA) and its susceptible "parental" strain (SG-S) were recovered from a patient at the end and at the beginning of an unsuccessful vancomycin therapy. 22319446 2012
MRSA - Methicillin resistant Staphylococcus aureus infection
0.100 GeneticVariation disease BEFREE MRSA with reduced susceptibility to glycopeptide antibiotics such as vancomycin (vancomycin intermediate S. aureus, VISA) have also emerged in the ocular infections, and there has been a rise in S. aureus resistance to new and old generation fluoroquinolones that are commonly used for prophylaxis after intravitreal injections and intraocular surgeries. 26679534 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.070 GeneticVariation disease BEFREE Hence, this is the first demonstration that an uncommon genetic variant in the MAVS gene has a functional impact upon the anti-viral IFN pathway in vivo in humans and is associated with a novel sub-phenotype in SLE. 21268286 2011
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.050 GeneticVariation group BEFREE Persistent MAVS aggregates may lead to increased type I IFN production and result in unmitigated signals leading to autoimmunity. 27110677 2016
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
0.030 GeneticVariation disease BEFREE Interferon β promoter stimulator 1 polymorphisms (IPS-1) regulate interferon (IFN) mediated viral clearance in hepatitis B virus (HBV) infection. 30930359 2019
CUI: C1096184
Disease: West Nile viral infection
West Nile viral infection
0.030 GeneticVariation disease BEFREE Conversely, a B cell-specific deletion of MAVS had no effect on immune responses to WNV-MAD compared to WT controls. 31242236 2019
CUI: C1096184
Disease: West Nile viral infection
West Nile viral infection
0.030 GeneticVariation disease BEFREE Here, we determined the role of mitochondrial antiviral-signaling protein (MAVS), the adaptor protein for RIG-I like receptor in regulating host immunity against the live attenuated West Nile virus (WNV) vaccine strain, the nonstructural (NS) 4B-P38G mutant. 28077630 2017
CUI: C0266999
Disease: Vesicular Stomatitis
Vesicular Stomatitis
0.020 GeneticVariation disease BEFREE We previously demonstrated that the serine/threonine kinase IKKε is recruited to the C-terminal region of MAVS following Sendai or vesicular stomatitis virus (VSV) infection, mediated by Lys63-linked polyubiquitination of MAVS at Lys500, resulting in inhibition of downstream IFN signaling (Paz et al, Mol Cell Biol, 2009). 21200404 2011
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic
0.020 GeneticVariation disease BEFREE Association of IPS1 polymorphisms with peginterferon efficacy in chronic hepatitis B with HBeAg-positive in the Chinese population. 25640825 2015
CUI: C0023343
Disease: Leprosy
Leprosy
0.010 GeneticVariation disease BEFREE We hypothesized that the mitochondrial-related antimicrobial/antiviral immune genes MAVS (mitochondrial antiviral signaling protein), MITA (mediator of IRF3 activation) and MFN2 (mitofusin 2) would confer a risk to leprosy. 27553710 2016
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.010 GeneticVariation disease BEFREE Evaluation of 18 single nucleotide polymorphisms (SNPs) in the four genes did not reveal significant single-SNP associations with MS risk, but two VISA polymorphisms were modestly associated with age of onset. 25288302 2014
Respiratory Syncytial Virus Infections
0.010 GeneticVariation group BEFREE To conclude, we could not replicate the previously reported association with SNPs in the IL4 and IL4R genes in our independent cohort, nor did we find that common SNPs in genes encoding for RLRs and the downstream adapter MAVS were associated with susceptibility to severe RSV infections. 24949794 2014
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block
0.010 GeneticVariation disease BEFREE Polymorphisms in IPS1 are independently associated with treatment response to PEG-IFN among Chinese HBeAg-positive CHB patients. 25640825 2015
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies
0.010 GeneticVariation disease BEFREE These include the NO SPECS Classification, the European Group on Graves Orbitopathy severity scale, the Clinical Activity Score of Mourits, and the VISA Classification as outlined here. 29952931 2018
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders
0.010 GeneticVariation group BEFREE It is also known that the adaptor proteins including apoptosis-associated speck-like protein containing CARD (ASC) and the mitochondrial antiviral signaling protein (MAVS) are necessary for NLRP3-dependent inflammasome function. 25149528 2014
CUI: C3840085
Disease: Disorder of Achilles tendon
Disorder of Achilles tendon
0.010 GeneticVariation disease BEFREE The purpose of this study is to translate, culturally adapt, and validate the VISA-A questionnaire for Chilean Spanish speakers with Achilles tendinopathy (AT), which has been originally developed for English-speaking population. 30005676 2018
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.100 Biomarker disease BEFREE HCV-encoded NS3/4A protease plays an important role in HCV immune evasion by cleaving key adapter proteins VISA and TRIF of the RIG-I-like receptors and Toll-like receptors mediated interferon (IFN) induction pathways. 23137809 2013
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.100 Biomarker disease BEFREE HCV infection is supported by viral strategies to evade the innate antiviral response wherein the viral NS3.4A protease complex targets and cleaves the interferon promoter stimulator-1 (IPS-1) adaptor protein to ablate signaling of interferon alpha/beta immune defenses. 17289677 2007
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.100 Biomarker disease BEFREE Detailed studies revealed that HCV infection activates MAVS that in turn recruits TRAF6 via TRAF-interacting-motifs (TIMs), and TRAF6 subsequently directly recruits GP73 to MAVS via coiled-coil domain. 28394926 2017
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.100 Biomarker disease BEFREE The activity of asunaprevir-regulated innate immunity signal pathway was assessed with IFN-β promoter or IFN-stimulated responsive element (ISRE) reporter assays and immunoblotting of key signal proteins. siRNA-mediated MAVS and TRIF knockdown of cells was performed to assess the effect of asunaprevir-regulated innate immunity against HCV and DENV. 28473813 2017