Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0935560
Disease: Multiple disability
Multiple disability
0.010 GeneticVariation disease BEFREE The aim of the present study was to analyse a possible association of three autoimmune disabilities - Multiple sclerosis (MS), LADA diabetes and Graves' disease (GD) with single nucleotide polymorphism (SNP; rs1990760) in the IF IH1 gene (also known as a melanoma differentiation-associated protein 5 - MDA5) within the Polish population. 31733941 2020
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
0.010 GeneticVariation disease BEFREE The syndrome is genetically heterogeneous with mutations in 7 genes, including <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR1</i>, and <i>IFIH1</i> (interferon-induced helicase c domain-containing protein 1) associated with the syndrome, so far. 30952201 2020
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases
0.010 Biomarker group BEFREE For distinguishing DM/PM from other CTDs, the sensitivity, specificity, and positive predictive value (PPV) for anti-MDA5 were 28.46, 99.00, and 97.37%, respectively, with a positive likelihood ratio (LR+) of 28.46; they were 46.15, 58.00, and 58.82%, respectively, for anti-Ro-52 with an LR+ of 1.10. 30616054 2019
CUI: C0014057
Disease: Japanese Encephalitis
Japanese Encephalitis
0.010 Biomarker disease BEFREE Neuronal transcriptomic responses to Japanese encephalitis virus infection with a special focus on chemokine CXCL11 and pattern recognition receptors RIG-1 and MDA5. 30481615 2019
CUI: C0018824
Disease: Heart valve disease
Heart valve disease
0.010 Biomarker group BEFREE In children, non-neurological involvement in the type I interferonopathies includes autoimmune and rheumatological phenomena, with calcifying cardiac valve disease only previously reported in the context of MDA5 gain-of-function. 31772029 2019
CUI: C0037285
Disease: Skin Manifestations
Skin Manifestations
0.010 AlteredExpression phenotype BEFREE Anti-MDA5 antibody may be associated with CADM, the progression to RP-ILD, high serum ferritin level, and characteristic skin manifestations. 31617496 2019
CUI: C0043124
Disease: West Nile Fever
West Nile Fever
0.010 Biomarker disease BEFREE While LGP2 functions to modulate inflammatory signaling, RIG-I and MDA5 together are essential for M1 macrophage polarization in vivo and the control of WNV infection through potential downstream control of ATF4 and SMAD4 to regulate target gene expression for cell polarization. 31409781 2019
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
0.010 Biomarker group BEFREE The expressions of B-cell lymphoma-associated X-2 (Bax-2), B-cell lymphoma-2 (Bcl-2), phosphoinositide-3-kinase (PI3K), protein kinase B (Akt), glycogen synthase kinase 3β (GSK-3β), MDA5 and SOD1 were determined using western blotting assay. 30858867 2019
T-Lymphocytopenia, Idiopathic CD4-Positive
0.010 Biomarker disease BEFREE Hypomyopathic Dermatomyositis Presenting with Idiopathic CD4 T-lymphocytopenia and Delayed Anti-MDA5 Positivity. 31058016 2019
CUI: C0276231
Disease: Duck viral enteritis
Duck viral enteritis
0.010 AlteredExpression disease BEFREE In addition, the transcriptional level of MDA5 was upregulated both in vivo and in vitro upon DEV infection. 31675523 2019
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic
0.010 GeneticVariation disease BEFREE Genetic variations at IFIH1 rs3747517 and DDX58 rs9695310 were independent predictors of chronic hepatitis C in Chinese Han population. 30633820 2019
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff
0.010 GeneticVariation disease BEFREE IFIH1 rs3747517 (dominant model: Adjusted odds ratio [OR] = 1.34, 95% confidence interval [CI] = 1.07-1.68; P = 0.009) and DDX58 rs9695310 (dominant model: Adjusted OR = 1.43, 95% CI = 1.15-1.78; P = 0.001) were associated with chronic hepatitis C (CHC). 30633820 2019
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders
0.010 Biomarker group BEFREE We found that several 14-3-3 isoforms may interact with MDA5 through the CARDs (N-MDA5), but 14-3-3η was the only isoform that could enhance MDA5-dependent IFNβ promoter activities in a dose-dependent manner. 30742689 2019
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease
0.010 GeneticVariation disease BEFREE Recent work showed that mutations in the IFIH1 gene, encoding MDA5, lead to interferon-driven autoinflammatory diseases. 30201512 2019
CUI: C3694279
Disease: Middle East Respiratory Syndrome
Middle East Respiratory Syndrome
0.010 Biomarker disease BEFREE Middle East Respiratory Syndrome Coronavirus-Encoded Accessory Proteins Impair MDA5-and TBK1-Mediated Activation of NF-κB. 31434175 2019
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
0.010 Biomarker disease BEFREE Singleton-Merten Syndrome-like Skeletal Abnormalities in Mice with Constitutively Activated MDA5. 31366715 2019
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
0.010 Biomarker disease BEFREE Initial aggressive immunosuppressive therapy should be considered for these patients.Key Points• This study clearly demonstrate the presence of PNM was associated with elevated risk of death due to respiratory failure from RP-ILD among patients with DM having circulating anti-MDA5-antibody.•This study demonstrate evaluation of CT image may be helpful to find patients with better response to the intense immunosuppression therapy for the patients with DM having circulating anti-MDA5-antibody and PNM. 31420814 2019
CUI: C4324298
Disease: Tumour inflammation
Tumour inflammation
0.010 Biomarker disease BEFREE In the absence of ADAR1, A-to-I editing of interferon-inducible RNA species is reduced, leading to double-stranded RNA ligand sensing by PKR and MDA5; this results in growth inhibition and tumour inflammation, respectively. 30559380 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.010 Biomarker disease BEFREE <b>Purpose:</b> Polyinosinic-polycytidylic acid-poly-l-lysine carboxymethylcellulose (poly-ICLC), a synthetic double-stranded RNA complex, is a ligand for toll-like receptor-3 and MDA-5 that can activate immune cells, such as dendritic cells, and trigger natural killer cells to kill tumor cells.<b>Patients and Methods:</b> In this pilot study, eligible patients included those with recurrent metastatic disease in whom prior systemic therapy (head and neck squamous cell cancer and melanoma) failed. 29950349 2018
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.010 GeneticVariation disease BEFREE We describe associations that may predict ADEs, e.g., acne, high cholesterol, gout, and gallstones with rs738409 (rs738409" genes_norm="80339">p.I148M) in PNPLA3 and asthma with rs1990760 (p.T946A) in IFIH1. 30327483 2018
CUI: C0009319
Disease: Colitis
Colitis
0.010 GeneticVariation disease BEFREE Intriguingly, concurrent deletion of MDA5 restores thymocyte maturation and prevents colitis. 30361393 2018
CUI: C0011226
Disease: Hepatitis D Infection
Hepatitis D Infection
0.010 Biomarker disease BEFREE MDA5 is the key sensor for the recognition of hepatitis D virus replicative intermediates. 29524530 2018
CUI: C0013404
Disease: Dyspnea
Dyspnea
0.010 Biomarker phenotype BEFREE The MSN group experienced lower dyspnea (48.2% versus 79% versus 71.4%, P = 0.001) and fever (18.1% versus 39.5% versus 37.5%, P = 0.01) frequencies compared to MDA5 and ARS groups. 29289262 2018
CUI: C0015230
Disease: Exanthema
Exanthema
0.010 Biomarker phenotype BEFREE In exact logistic regressions adjusted for age, race/ethnicity, sex, amyopathic status, anti-Ro52 status, and dermatomyositis-associated cancer, the presence of anti-SAE-1/2 autoantibodies was significantly associated with a hydroxychloroquine-associated skin eruption (odds ratio [OR], 8.43; 95% CI, 1.98-49.19; P = .003) and presence of anti-MDA-5 autoantibodies was significantly negatively associated with a hydroxychloroquine-associated skin eruption (OR, 0.06; 95% CI, 0.0004-0.52; P = .006). 30140893 2018
CUI: C0024530
Disease: Malaria
Malaria
0.010 AlteredExpression disease BEFREE The difference in MDA5 expression between responding and non-responding NK cells following exposure to iRBCs likely contributes to the variation in NK cell responses to malaria infection in the human population. 30286211 2018