Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE Myelin-specific MS antibodies cause oligodendrocyte loss and demyelination in organotypic cerebellar slices, which are distinct from AQP4-targeted pathology, and display seminal features of active MS lesions. 28340598 2017
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE Presence of AQP4 antibodies distinguishes NMOSD from multiple sclerosis. 29806512 2018
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE Determining the frequency of longitudinally-extensive transverse myelitis (LETM: T2-lesion ≥3 vertebral segments) in multiple sclerosis (MS) is essential to assess its utility in differentiating from aquaporin-4-IgG (AQP4-IgG) positive neuromyelitis optica spectrum disorder (NMOSD) and myelin-oligodendrocyte-glycoprotein-IgG (MOG-IgG) myelitis. 31707235 2020
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE Following the discovery of a novel pathogenic antibody, Aquaporin 4 in 2004 (Lennon et al., 2004) this disease has been seen as a separate entity from Multiple Sclerosis (MS). 29141789 2017
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE Microcystic macular edema (MME) was observed only in eyes of MOG-abs-positive (24%) and AQP4-abs-positive NMOSD (5.6%), but not in MOG-abs-negative MS or HC (p < 0.01). 27844165 2017
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE To evaluate the T-cell responses to specific AQP4 peptides/epitopes in patients with NMO and multiple sclerosis (MS). 27063619 2016
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE Myelin oligodendrocyte glycoprotein+ optic neuritis has an atypical clinical presentation compared with multiple sclerosis and neuromyelitis optica spectrum disorder aquaporin 4+. 29972029 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE We also evaluated LESCLs with three or fewer spinal cord attacks by 3-tesla MRI in 15 AQP4 antibody-positive NMO/NMOSD patients and in 15 AQP4 antibody-negative multiple sclerosis (MS) patients. 27082714 2017
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE 112 patients with NMOSD (31 AQP4-ab-positive, 21 MOG-ab-positive, 16 ab-negative) or MS (44) were selected from 3 centres (Oxford, Strasbourg and Liverpool) for the presence of brain lesions. 27951522 2017
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE Using cell-based assays with recombinant full-length, conformationally intact MOG, several recent studies have revealed that MOG Abs can be found in a subset of predominantly pediatric patients with acute disseminated encephalomyelitis (ADEM), aquaporin-4 (AQP4) seronegative neuromyelitis optica spectrum disorders (NMOSD), monophasic or recurrent isolated optic neuritis (ON), or transverse myelitis, in atypical MS and in <i>N</i>-methyl-d-aspartate receptor-encephalitis with overlapping demyelinating syndromes. 28533781 2017
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE Most multiple sclerosis disease-modifying agents are ineffective for AQP4-IgG-positive neuromyelitis optica spectrum disorder and MOG-IgG-associated disorder. 31425702 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE There is now growing evidence that supports anti-myelin oligodendrocyte antibodies associated demyelination as a distinct disease entity, with some clinical characteristics that somehow overlap those of Multiple Sclerosis (MS) and anti-AQP4+ Neuromyelitis Optica Spectrum Disorders (AQP4+NMOSD) but different pathogenesis and treatment strategies. 31152967 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE AQP4-Ab test was positive for three (10.3%) patients in our study, with initial diagnoses of atypical MS (n = 2) and ADEM (n = 1). 30284401 2018
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE With the discovery of the disease-specific aquaporin-4 antibody and the increasing recognition of clinical and characteristic imaging patterns of brain involvement in what is now termed neuromyelitis optica spectrum disorder (NMOSD), MRI now plays a greater role in diagnosis of NMOSD based on the 2015 consensus criteria and in distinguishing it from other inflammatory disorders, particularly multiple sclerosis (MS). 29388807 2018
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE The identification of activated T-lymphocytes restricted to myelin-derived immunogenic peptides in multiple sclerosis (MS) and aquaporin-4 water channel in neuromyelitis optica (NMO) in the blood of patients opened the possibility for developing highly selective and disease-specific therapeutic approaches. 29904379 2018
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE Long-term follow up of OCT is recommended even in the unaffected side in MS-ON and AQP4-ON. 29153600 2017
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE Erythropoietin levels were lower in MS, while RSNO levels were higher in NMOSD with AQP4-IgG and MS patients than in the control group. 29856157 2018
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE Clinical brain scans of 83 patients with brain lesions (67 in the training and 16 in the validation cohort, 65 adults and 18 children) with MOG antibody (n = 26), AQP4 antibody disease (n = 26) and multiple sclerosis (n = 31) recruited from Oxford neuromyelitis optica and multiple sclerosis clinical services were retrospectively and anonymously scored on a set of 29 predefined magnetic resonance imaging features by two independent raters. 28364548 2017
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE We compared antibody response against HERV-W peptides among patients with MOG-IgG associated disorders, multiple sclerosis (MS) and aquaporin-4 (AQP4)-IgG positive neuromyelitis optica spectrum disorder (NMOSD). 31715457 2020
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE Of the 65 patients with PLICL, 46 patients had NMOSD (70.8%) and were positive for anti-aquaporin (AQP4-IgG), four had NMOSD (6.2%) and were AQP4-IgG negative, 10 patients had multiple sclerosis (MS), three patients had NMDAR encephalitis, and two had autoimmune meningoencephalitis. 28262035 2017
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE All patients without MS were tested for AQP4 and MOG Abs: 11 had MOG Ab (10%), 5 had AQP4 Ab (4.5%) and 16 were considered as having idiopathic ON (14.5%). 28477397 2017
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE Influence of HLA-DRB1 alleles on the susceptibility and resistance to multiple sclerosis in Japanese patients with respect to anti-aquaporin 4 antibody status. 20028711 2010
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE <b>Objective:</b> Differential diagnosis of neuromyelitis optica spectrum disorders (NMOSD) and multiple sclerosis (MS) or mimics can be challenging, especially in patients with atypical presentations and negative serostatus for aquaporin-4 antibodies (AQP4-Ab). 30319524 2018
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE Aquaporin-4 IgG seropositivity is associated with worse visual outcomes after optic neuritis than MOG-IgG seropositivity and multiple sclerosis, independent of macular ganglion cell layer thinning. 31364464 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.100 Biomarker disease BEFREE MOG-Ab seropositivity is much more common in the pediatric population and it predicts a better prognosis than MS or AQP4+NMOSD, except in the subset that exhibit a recurrent phenotype. 31433309 2019