Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.130 AlteredExpression disease BEFREE The therapeutic outcomes defined as: i) reduction of the clinical activity score (CAS) ≥2 points or ii) reduction of proptosis ≥2 mm or iii) improvement of diplopia according to the Gorman score were also studied in relation to treatment schedule, age, gender, duration of thyroid or GO, smoking habits, and serum TSH-receptor autoantibodies levels. 24128430 2014
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.130 Biomarker disease BEFREE These findings, combined with the clinical conditions-an ophthalmologic evaluation (that showed the presence of exophthalmos without lagophthalmos and visual acuity deficiency), thyroid ultrasound, and TSH receptor antibody positivity-led to a diagnosis of Graves' disease. 30626069 2019
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.130 AlteredExpression disease BEFREE Thyroid hormone levels and thyroid-stimulating hormone receptor antibody (TRAb) levels were measured, and the degree of exophthalmos was measured in all patients. 30671256 2018
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.120 GeneticVariation disease BEFREE Crouzon syndrome, an autosomal dominant condition characterized by craniosynostosis, ocular proptosis and midface hypoplasia, is associated with mutations in fibroblast growth factor receptor 2 (FGFR2) (refs 1-3). 7493034 1995
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.120 GeneticVariation disease BEFREE The variable presentation should remind paediatricians to consider mutations in fibroblast growth factor receptor 2 among the aetiologies of exophthalmos. 20163525 2010
Entrez Id: 106865367
Gene Symbol: MRD2
MRD2
0.020 GeneticVariation disease BEFREE Exophthalmos, midpupil to lower eyelid margin distances (MRD2) at 11 meridians, and globe position were measured and compared according to the types of decompression. 27997462 2017
Entrez Id: 106865367
Gene Symbol: MRD2
MRD2
0.020 Biomarker disease BEFREE Univariate linear regression analysis showed a significant positive association between amount of exophthalmos reduction and the following parameters: area (p = 0.007); MRD2 (p = 0.043); upper lid length (p = 0.045); lower lid length (p = 0.006); medial area (p = 0.045); and lateral area (p = 0.005). 29391576 2018
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.020 AlteredExpression disease BEFREE In the patients with goiter, hyperthyroidism, and symptoms of exophthalmos, the level of expression of IL-6 was significantly higher than that of patients without exophthalmos (p < 0.05). 29131274 2017
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.020 Biomarker disease BEFREE In addition, targeted biologic therapies have shown promise, including teprotumumab (anti-IGFR) which appears to substantially reduce proptosis, rituximab (anti-CD20) which reduces inflammation and tocilizumab (anti-IL-6) which potentially benefits both of these parameters. 31356255 2019
Entrez Id: 3383
Gene Symbol: ICAM1
ICAM1
0.010 PosttranslationalModification disease BEFREE There was a correlation between decreased ICAM-1 methylation and exophthalmos (p = 0.01) and the high TSI level (p < 0.002) in GD patients. 31359380 2019
Entrez Id: 1434
Gene Symbol: CSE1L
CSE1L
0.010 Biomarker disease BEFREE There were significant differences in the case of exophthalmia (P=0.002), CAS (P=0.006), and Palpebral fissure (P=0.029) between the first visit and 6 months after treatment. 31345156 2020
Entrez Id: 54474
Gene Symbol: KRT20
KRT20
0.010 Biomarker disease BEFREE In addition, targeted biologic therapies have shown promise, including teprotumumab (anti-IGFR) which appears to substantially reduce proptosis, rituximab (anti-CD20) which reduces inflammation and tocilizumab (anti-IL-6) which potentially benefits both of these parameters. 31356255 2019
Entrez Id: 51251
Gene Symbol: NT5C3A
NT5C3A
0.010 GeneticVariation disease BEFREE Patients most commonly presented with a cranial nerve (CN) palsy involving CN III-VI (70%), a visual deficit (62%), headaches (52%), or proptosis (44%). 30771770 2019
Entrez Id: 6750
Gene Symbol: SST
SST
0.010 Biomarker disease BEFREE The rank probability analysis of proptosis reduction showed that teprotumumab was the most effective, followed by IVGC, IVGC + OR, OIGC, OGC, OGC + OR, OR, somatostatin, cyclosporine, and placebo. 30647961 2018
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.010 Biomarker disease BEFREE Emerging therapies target different pathways in the disease and are informed by studies into TED pathogenesis: the last 2 years has, for example, seen the culmination of a two-decade long bench-to-bedside story in which an original focus on the IGF1 receptor has translated into an effective treatment for proptosis in thyroid eye disease. 31313753 2019
Entrez Id: 3570
Gene Symbol: IL6R
IL6R
0.010 Biomarker disease BEFREE The adjunction of interleukin-6-receptor monoclonal antibody treatment was associated with a significant improvement in ocular symptoms, notably diplopia and proptosis, and functional prognosis in all patients, with one relapse approximately two months after the end of the treatment. 30457413 2020
Entrez Id: 862
Gene Symbol: RUNX1T1
RUNX1T1
0.010 Biomarker disease BEFREE RUNX1-RUNX1T1-positive acute myeloid leukaemia presenting as bilateral proptosis and multiple cranial nerve palsy. 28993357 2017
Entrez Id: 9564
Gene Symbol: BCAR1
BCAR1
0.010 Biomarker disease BEFREE There were significant differences in the case of exophthalmia (P=0.002), CAS (P=0.006), and Palpebral fissure (P=0.029) between the first visit and 6 months after treatment. 31345156 2020
Entrez Id: 3558
Gene Symbol: IL2
IL2
0.010 AlteredExpression disease BEFREE The expression levels of IL-2, IL-6, and TGF-β were significantly increased in the patients with senile goiter and hyperthyroidism, but in the senile patients with goiter, hyperthyroidism and exophthalmos symptoms, IL-6 levels were significantly higher than those without exophthalmos. 29131274 2017
Entrez Id: 9904
Gene Symbol: RBM19
RBM19
0.010 Biomarker disease BEFREE The patients were treated with subconjunctival triamcinolone acetonide injections monthly and evaluated pre- and post-treatment by taking measurements of the upper margin reflex distance (MRD1, the distance between the upper-lid margin and the pupil center), lid aperture, lagophthalmos and proptosis. 30140631 2018
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
0.010 Biomarker disease BEFREE Teprotumumab, a monoclonal IGF-1R antagonist, has demonstrated previously in a 24 week, randomized, controlled trial to produce significant changes in composite outcomes of proptosis and clinical activity score as compared with placebo. 30575804 2019
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
0.010 GeneticVariation disease BEFREE The patient was started on a trial of the antiangiogenic agent sirolimus (also known as rapamycin), and after 6 months of treatment showed clinical improvement in proptosis supported by radiologic evidence of regression in the larger, left orbital mass, with stability of the smaller, right orbital mass. 27065430 2017
Entrez Id: 23461
Gene Symbol: ABCA5
ABCA5
0.010 Biomarker disease BEFREE In addition, Abca5(-)(/)(-) mice also exhibited exophthalmos and collapse of the thyroid gland. 15870284 2005
Entrez Id: 3440
Gene Symbol: IFNA2
IFNA2
0.010 Biomarker disease BEFREE Exophthalmos responded to pegylated interferon-alpha-2a. 30337283 2018
Entrez Id: 100528016
Gene Symbol: TMX2-CTNND1
TMX2-CTNND1
0.010 Biomarker disease BEFREE There were significant differences in the case of exophthalmia (P=0.002), CAS (P=0.006), and Palpebral fissure (P=0.029) between the first visit and 6 months after treatment. 31345156 2020