Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6556
Gene Symbol: SLC11A1
SLC11A1
0.010 GeneticVariation disease BEFREE Case/pseudo-control conditional logistic regression analysis of variants in the SLC11A1 gene, initially identified for its role in resistance to intra-macrophage pathogens in mice, revealed association with OM at four polymorphisms (Pbest=0.025) in 531 families (660 affected children) from the Western Australian Family Study of Otitis Media. 23538334 2013
Entrez Id: 80204
Gene Symbol: FBXO11
FBXO11
0.010 GeneticVariation disease BEFREE Single-nucleotide polymorphisms (SNPs) within FBXO11 (family-based association testing Z-Score=2.61; P(best)=0.009) were associated with severe OM in family-based analysis of 434 families (561 affected individuals) from the Western Australian Family Study of OM. 21293382 2011
Entrez Id: 2224
Gene Symbol: FDPS
FDPS
0.010 GeneticVariation disease BEFREE In children with AOM (n = 201), pain was assessed by parents as moderate/severe in 65% via interview; 90% with the FPS-R; and 91% with the FLACC Scale (P < 0.001). 30572868 2018
Entrez Id: 671
Gene Symbol: BPI
BPI
0.010 GeneticVariation disease BEFREE Although, BPIFA1, a member of the BPI fold containing family of putative innate defence proteins is abundantly expressed by the ME epithelium and SNPs in Bpifa1 have been associated with OM susceptibility, its role in the ME is not well characterized. 29449589 2018
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
0.010 GeneticVariation disease BEFREE This prospective study utilized a candidate gene approach to evaluate the association between polymorphisms in loci encoding SP-A and risk of otitis media during the first year of life among a cohort of infants at risk for developing asthma. 16884531 2006
Entrez Id: 2524
Gene Symbol: FUT2
FUT2
0.010 GeneticVariation disease BEFREE The common FUT2 c.604C>T (p.Arg202<sup>∗</sup>) variant co-segregates with otitis media in a Filipino pedigree (LOD = 4.0). 30401457 2018
Entrez Id: 2242
Gene Symbol: FES
FES
0.010 GeneticVariation disease BEFREE In children with AOM (n = 201), pain was assessed by parents as moderate/severe in 65% via interview; 90% with the FPS-R; and 91% with the FLACC Scale (P < 0.001). 30572868 2018
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.010 GeneticVariation disease BEFREE These comparisons found previously unreported commonalities between the newly identified patients, such as the presence of otitis media and the lack of genitourinary abnormalities (i.e. hypoplastic scrotum, microphallus, cryptorchidism), which had been noted to be classic features of patients with OPHN1 variants. 29960046 2019
Entrez Id: 285590
Gene Symbol: SH3PXD2B
SH3PXD2B
0.010 GeneticVariation disease BEFREE The mouse model with a mutation in the Sh3pxd2b gene (Sh3pxd2b(nee)) mirrors craniofacial dysmorphology and otitis media in humans. 21818352 2011
Entrez Id: 8988
Gene Symbol: HSPB3
HSPB3
0.010 GeneticVariation disease BEFREE Evaluation of mutations in penicillin binding protein-3 gene of non-typeable Haemophilus influenzae isolated from the nasopharynx of children with acute otitis media. 15880950 2005
Entrez Id: 7050
Gene Symbol: TGIF1
TGIF1
0.010 GeneticVariation disease BEFREE This study supports smaller studies that have also suggested association of otitis media with polymorphism at FBX011, but this is the first study to report association with the locus TGIF1. 28970529 2017
Entrez Id: 28982
Gene Symbol: FLVCR1
FLVCR1
0.010 GeneticVariation disease BEFREE The remaining two PCA factors were associated with an increased risk of otitis media. 21285435 2011
Entrez Id: 28
Gene Symbol: ABO
ABO
0.010 GeneticVariation disease BEFREE Fisher exact tests were performed when (a) comparing frequencies of ABO genotypes in the Finnish probands with otitis media vs. counts in gnomAD Finnish, and (b) within the Finnish family cohort, comparing occurrence of RAOM vs. COME according to <i>ABO</i> genotype/haplotype and predicted blood type. 31693456 2019
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
0.010 GeneticVariation disease BEFREE IL-1β (-31), CX3CR1 (Thr280Met), IL-10 (-1082) and IL-1β (-511) SNPs were associated with increased risk for frequent URIs or OM proneness. 24718616 2014
Entrez Id: 5054
Gene Symbol: SERPINE1
SERPINE1
0.010 GeneticVariation disease BEFREE Our findings suggest that the PAI1 4G/4G genotype is associated with an increased risk for the otitis-prone condition, potentially because of impaired healing after a previous otitis media episode. 17671042 2007
Entrez Id: 89874
Gene Symbol: SLC25A21
SLC25A21
0.010 GeneticVariation disease BEFREE The phenotypes we observed in homozygous Slc25a21(tm1a(KOMP)Wtsi) mice were broadly consistent with a hypomorphic Pax9 allele with the exception of otitis media and hearing impairment which may be a novel consequence of Pax9 down regulation. 24642684 2014
Entrez Id: 51284
Gene Symbol: TLR7
TLR7
0.010 GeneticVariation disease BEFREE MBL polymorphisms were associated with an increased and TLR7 polymorphisms with a decreased risk of rhinovirus-associated acute otitis media (P = 0.03 and P = 0.006, respectively). 28403045 2017
Entrez Id: 3984
Gene Symbol: LIMK1
LIMK1
0.010 GeneticVariation disease BEFREE A mutation in Nischarin causes otitis media via LIMK1 and NF-κB pathways. 28806779 2017
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.010 GeneticVariation disease BEFREE Our findings suggest that IL-10 and TGF-β1 genotypes are related to the age of AOM onset, multiple AOM episodes and insertion of tympanostomy tubes, pointing to the involvement of anti-inflammatory cytokines in AOM during infancy. 24463810 2014
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.100 Biomarker disease BEFREE Expression of IL-1β, IL-6, and TNF-α was increased in the ME of the bacteria-induced OM in the rat model. 30055742 2018
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.100 Biomarker disease BEFREE NOP children had higher levels of IL-6 (P = .02), IL-10 (P = .02), interferon-γ (P = .003), TNF-α (P = .006), IL-1β (P = .022), monocyte chemoattractant protein 1 (P = .028), RANTES (P = .005), IL-2 (P = .002), and IL-17 (P = .007) during viral URIs versus AOMs following the URIs, when compared to sOP children. 30188973 2019
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.100 Biomarker disease BEFREE Eight percent of the effusions contained tumor necrosis factor-alpha, compared with 85% of those collected in pediatric otitis media. 9781987 1998
Entrez Id: 3718
Gene Symbol: JAK3
JAK3
0.100 Biomarker disease HPO
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 Biomarker disease BEFREE The high expression levels of MMP-2, MMP-9 and IL-6 in the serum of patients with cholesteatomatous otitis media were positively correlated with the injury degree of ossicle, which may be a sign of poor prognosis of cholesteatomatous otitis media. 31086579 2019
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
0.100 Biomarker disease HPO