Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.590 GeneticVariation disease BEFREE Frontometaphyseal dysplasia (FMD) is a dominant X-linked rare disease caused by mutations of FLNA. 29995760 2018
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.590 GeneticVariation disease BEFREE Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. 28498505 2017
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.590 Biomarker disease BEFREE Currently, the identification of areas that are at risk of FMD virus incursion and spread is a priority for FMD target surveillance after FMD is eradicated from a given country or region. 28552973 2017
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.590 Biomarker disease BEFREE Mutations in the FLNA gene have been reported in most FMD and OPD2 cases and in all instances of typical OPD1 and MNS. 26404489 2016
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.590 GeneticVariation disease UNIPROT Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 27193221 2016
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.590 GeneticVariation disease BEFREE Using whole-exome sequencing and targeted Sanger sequencing in 19 FMD-affected individuals with no identifiable FLNA mutation, we identified mutations in two genes-MAP3K7, encoding transforming growth factor β (TGF-β)-activated kinase (TAK1), and TAB2, encoding TAK1-associated binding protein 2 (TAB2). 27426733 2016
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.590 GeneticVariation disease BEFREE We hypothesize that the presently reported patients represent further evidence that phenotypes strongly resembling FMD exist that are not accounted for by mutations in FLNA. 25899317 2015
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.590 Biomarker disease BEFREE This highlights the importance of the 3A-DCTN3 interaction in FMD virus virulence and provides possible mechanisms of virus attenuation for the development of improved FMD vaccines. 24352458 2014
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.590 GeneticVariation disease UNIPROT Our data may indicate that in females, genotype-phenotype correlation between certain FLNA mutations and OPD1 and FMD, respectively, is less strict than previously assumed. 16596676 2006
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.590 GeneticVariation disease BEFREE Our data may indicate that in females, genotype-phenotype correlation between certain FLNA mutations and OPD1 and FMD, respectively, is less strict than previously assumed. 16596676 2006
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.590 GeneticVariation disease BEFREE OPD1 belongs to a group of X-linked skeletal dysplasias known as oto-palato-digital syndrome spectrum disorders that also include OPD2, Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). 15940695 2005
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.590 Biomarker disease GENOMICS_ENGLAND A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. 14988809 2004
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.590 Biomarker disease GENOMICS_ENGLAND Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583 2003
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.590 GeneticVariation disease UNIPROT Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583 2003
Entrez Id: 6885
Gene Symbol: MAP3K7
MAP3K7
0.300 Biomarker disease GENOMICS_ENGLAND These findings show that dysregulation of the TAK1 complex produces a close phenocopy of FMD caused by FLNA mutations. 27426733 2016
Entrez Id: 112483
Gene Symbol: SAT2
SAT2
0.040 GeneticVariation disease BEFREE FMD outbreaks due to SAT 2 have been reported in many African countries. 30462886 2019
Entrez Id: 112483
Gene Symbol: SAT2
SAT2
0.040 Biomarker disease BEFREE The foot-and-mouth disease (FMD) virus is classified into seven serotypes, of which the South African types have South African Territories (SAT)1, SAT2, and SAT3 that are prevalent in Africa. 31842907 2019
Entrez Id: 112483
Gene Symbol: SAT2
SAT2
0.040 Biomarker disease BEFREE Chimeric O1K foot-and-mouth disease virus with SAT2 outer capsid as an FMD vaccine candidate. 30209254 2018
Entrez Id: 112483
Gene Symbol: SAT2
SAT2
0.040 Biomarker disease BEFREE Antigen ELISA of viral isolates was used to identify FMD virus serotypes O, A and SAT 2. 27718336 2017
Entrez Id: 3558
Gene Symbol: IL2
IL2
0.030 AlteredExpression disease BEFREE The results showed that IL-2 co-expressed or co-inoculated with Polytope protein enhances the immune effect of multiple epitope recombinant vaccine against FMD virus. 31156792 2019
Entrez Id: 3558
Gene Symbol: IL2
IL2
0.030 Biomarker disease BEFREE The results of total IgG, IgG1, IgG2a levels and secretion of IFN-γ, IL-4 and IL-10 revealed that immune responses were enhanced when the epitope recombinant vaccine of FMD virus coupled with IL-2 and FcIgG. 31004723 2019
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.030 AlteredExpression disease BEFREE Upon restimulation of the vaccinated splenocytes with the inactivated FMD viral antigen, significantly (p < 0.05) higher IFN-γ and IL-2 levels in culture supernatants were found in animals vaccinated with the CCL20 plasmid plus FMD vaccine, which is indicative of the T<sub>H</sub>1 type of cellular immunity. 30054161 2018
Entrez Id: 3558
Gene Symbol: IL2
IL2
0.030 AlteredExpression disease BEFREE Upon restimulation of the vaccinated splenocytes with the inactivated FMD viral antigen, significantly (p < 0.05) higher IFN-γ and IL-2 levels in culture supernatants were found in animals vaccinated with the CCL20 plasmid plus FMD vaccine, which is indicative of the T<sub>H</sub>1 type of cellular immunity. 30054161 2018
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.030 AlteredExpression disease BEFREE In the FMD-CVC1302 group, the LPB-ELISA antibody titers, IgG1, and IgG2 titers, and IL-2, IL-4, IL-6, and IFN-γ levels at 28 dpv were significantly higher than those in the FMD-vaccine group. 30470640 2018
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.030 AlteredExpression disease BEFREE The increase in the expression level of IFN-γ and IL-21 at 28 DPO correlated with the increase in antibody titer as determined by LPBE suggesting the role of these cytokines in augmenting immune response to FMDV infection. 30145254 2018