|
Abnormal upper motor neuron morphology
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Abnormality of the basal ganglia
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
Abnormality of the skeletal system
|
0.010 |
Biomarker
|
disease |
BEFREE |
Singleton-Merten Syndrome-like Skeletal Abnormalities in Mice with Constitutively Activated MDA5.
|
31366715 |
2019 |
|
Absent speech
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Acquired porencephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Acro-Osteolysis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Acrocyanosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Acute bronchiolitis
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
For this purpose, the levels of melanoma differentiation-associated protein-5 (MDA-5), retinoic acid inducible gene-1 (RIG-1), and Toll-like receptor 3 (TLR-3), TLR-7, TLR-8, and TLR-9 mRNAs were evaluated, using TaqMan quantitative reverse transcription-PCR, in cells from nasopharyngeal washes collected from 157 infants suffering from acute bronchiolitis whether or not they were associated with respiratory viruses.
|
19386802 |
2009 |
|
Acute infectious disease
|
0.010 |
GeneticVariation
|
group |
BEFREE |
In summary, our study uncovers an influence of rs1990760 on the canonical effector function of MDA5 in response to an acute infection of primary human parenchymal cells with a clinically relevant virus linked to human T1D.
|
28000722 |
2016 |
|
Acute respiratory failure
|
0.010 |
Biomarker
|
disease |
BEFREE |
Clinical features and outcome of patients with acute respiratory failure revealing anti-synthetase or anti-MDA-5 dermato-pulmonary syndrome: a French multicenter retrospective study.
|
30203297 |
2018 |
|
Addison Disease
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The aim of the present study was to investigate the role of the rs1990760 polymorphism within the IFIH1 gene in German patients with GD (n = 258), Hashimoto's thyroiditis (HT, n = 106), Addison's disease (AD, n = 195) and healthy controls (HC, n = 227) as well as in 55 GD families (165 individuals, German) and 100 HT families (300 individuals, Italian).
|
19961590 |
2009 |
|
Addison Disease
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The IFIH1 locus polymorphisms are unlikely to be associated with Addison's disease.
|
22789000 |
2013 |
|
Addison's disease due to autoimmunity
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We analysed the association of rs3747517, rs1990760, rs2111485 and rs13422767 single-nucleotide polymorphisms (SNPs) in the IFIH1 gene and intergenic region with AAD in a Polish cohort.
|
22789000 |
2013 |
|
Addison's disease due to autoimmunity
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
This meta-analysis demonstrates that the IFIH1 rs1990760 T-allele confers susceptibility to T1D, SLE, MS and RA and suggests that the IFIH1 rs1990760 polymorphism might have no effect on GD and AAD.
|
23734776 |
2013 |
|
Adult Glioblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
Targeting the cytosolic innate immune receptors RIG-I and MDA5 effectively counteracts cancer cell heterogeneity in glioblastoma.
|
23390110 |
2013 |
|
Adult type dermatomyositis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Interferon-induced helicase (IFIH1) polymorphism with systemic lupus erythematosus and dermatomyositis/polymyositis.
|
20467774 |
2010 |
|
Adult type dermatomyositis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Moreover, palmar violaceous macules/papules around the interphalangeal joints, which was observed in all three cases in the incipient stage, might be a useful sign in suggesting a diagnosis of anti-MDA5 antibody-associated DM.
|
28346662 |
2017 |
|
Adult type dermatomyositis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our newly developed ELISA can detect anti-MDA5 antibodies as efficiently as the gold standard IP assay and has the potential to facilitate the routine clinical measurement of anti-MDA5 antibodies in patients who suspected to have DM.
|
27115353 |
2016 |
|
Adult type dermatomyositis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Moreover, anti-MDA-5 is associated with amyopathic myositis and interstitial lung disease and anti-TIF-1γ and anti-NXP-2 with juvenile DM as well as malignancy in patients >40 years.
|
30639643 |
2019 |
|
Adult type dermatomyositis
|
0.100 |
Biomarker
|
disease |
BEFREE |
We wished to understand the role of MDA5 in DM skin inflammation by testing it to determine if a specific cutaneous phenotype is associated with MDA5 reactivity.
|
21531040 |
2011 |
|
Adult type dermatomyositis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The associations between autoantibodies (against transcription intermediary factor 1γ [TIF-1γ], nucleosome-remodeling deacetylase complex [Mi-2], nuclear matrix protein [NXP-2], small ubiquitinlike modifier 1 activating enzyme [SAE-1/2], melanoma differentiation-associated gene 5 [MDA-5], histidyl-transfer RNA synthetase [Jo-1], Ku, and signal recognition particles) and cutaneous adverse reactions to hydroxychloroquine in patients with dermatomyositis.
|
30140893 |
2018 |
|
Adult type dermatomyositis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Brief report: Association of HLA-DRB1*0101/*0405 with susceptibility to anti-melanoma differentiation-associated gene 5 antibody-positive dermatomyositis in the Japanese population.
|
22886382 |
2012 |
|
Adult type dermatomyositis
|
0.100 |
Biomarker
|
disease |
BEFREE |
A Multicenter Prospective Study of the Efficacy and Safety of Combined Immunosuppressive Therapy with High-Dose Glucocorticoid, Tacrolimus, and Cyclophosphamide in Interstitial Lung Diseases Accompanied by Anti-Melanoma Differentiation-Associated Gene 5-Positive Dermatomyositis.
|
31524333 |
2020 |
|
Adult type dermatomyositis
|
0.100 |
Biomarker
|
disease |
BEFREE |
HLA-DRB1 Alleles as Genetic Risk Factors for the Development of Anti-MDA5 Antibodies in Patients with Dermatomyositis.
|
28711882 |
2017 |
|
Adult type dermatomyositis
|
0.100 |
Biomarker
|
disease |
BEFREE |
High serum neopterin levels were associated with anti-MDA5 antibody, rapidly progressive interstitial lung disease (RP-ILD), and characteristic DM cutaneous involvement.
|
31797350 |
2020 |