Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE Serum antibodies to MOG (MOG-IgG) have recently been found to be a biomarker of MOG-IgG-associated disorder (MOGAD), a demyelinating disease distinct from both multiple sclerosis and aquaporin-4-IgG neuromyelitis optica spectrum disorder (AQP4-IgG-positive NMOSD). 31743235 2020
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE Here, we report a patient who was treated with pembrolizumab (a PD-1 monoclonal antibody) for lung adenocarcinoma with brain metastasis, and who developed anti-aquaporin-4 antibody (AQP4-Ab) positive neuromyelitis optica spectrum disorder (NMOSD). 31655267 2020
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE Possible mechanisms that may explain co-existence of NMOSD with TCL include a paraneoplastic syndrome leading to AQP4 antibody production, or a generalized dysfunction of the adaptive immune system. 31706113 2020
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE Antibody reactivity against HERV-W env peptides was similar in MOG-IgG associated disorders and MS, but different from AQP4-IgG positive NMOSD. 31715457 2020
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE Experimental animal models of aquaporin-4-IgG-seropositive neuromyelitis optica spectrum disorders: progress and shortcomings. 31587392 2020
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE Affinity-matured 'aquaporumab' anti-aquaporin-4 antibody for therapy of seropositive neuromyelitis optica spectrum disorders. 31654702 2020
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 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
0.400 Biomarker disease BEFREE Quantitative brain lesion distribution may distinguish MOG-ab and AQP4-ab neuromyelitis optica spectrum disorders. 31748853 2020
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE Case data were collected from 44 patients with AQP4 antibody-positive NMOSD, 53 patients with multiple sclerosis (MS) and 79 age- and sex-matched healthy controls. 31729806 2020
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 AlteredExpression disease BEFREE On histopathological examination, NMOSD samples showed significantly decreased IgG-targeting AQP4 expression on sarcolemma compared with non-NMOSD samples in terms of the area of positive staining and integrated optical density. 31786498 2020
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE The advent of reliable testing for anti-aquaporin-4 for NMOSD and anti-MOG antibodies has helped significantly; however, diagnosis can remain challenging, especially in sero-negative cases. 31582425 2020
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE Aquaporin-4-IgG positive neuromyelitis optica spectrum disorder and systemic autoimmune diseases overlap syndrome: a single-center experience. 31566079 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE Within the CNS autoimmunity control cohort, autoantibodies against aquaporin 4 and high-titer Abs against myelin oligodendrocyte glycoprotein were, as expected, specific for neuromyelitis optica spectrum disorders. 30824481 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE Longitudinally extensive transverse myelitis (LETM) accompanying systemic lupus erythematosus (SLE) is often due to coexisting aquaporin-4-IgG seropositive neuromyelitis optica spectrum disorder but has not been associated with myelin oligodendrocyte glycoprotein-IgG (MOG-IgG). 31621483 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE We conducted a retrospective study of hospital case records of 294 individuals diagnosed with neuromyelitis optica (NMO) (G36.0 ICD-10, 341.0 ICD-9) in the Swedish National Patient Register from 1987 to end of 2013 or detected by the presence of aquaporin-4 (AQP4) immunoglobulin G (IgG) in serum during the study period. 31171648 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE There is a consensus that the anti-aquaporin-4 antibody (AQP4-IgG) is the main pathogen detectable in majority of NMOSD patients, including traditional NMO and AQP4-IgG-positive optic neuritis. 30716473 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE Outcome prediction models in AQP4-IgG positive neuromyelitis optica spectrum disorders. 30938427 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE There were eleven AQP4-positive NMOSD patients in the study. 31731214 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE Clinical trials for neuromyelitis optica treatments using anti-AQP4 IgG are in progress. 30934923 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE All the patients showed disseminated lesions in the subcortical region to deep white matter, which were different from those found in MS and AQP4-Ab-positive NMOSD and were consistent with the characteristics of brain lesions in MOG-Ab-positive ADS, including other disease types. 30447856 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 GeneticVariation disease BEFREE We conducted an open-label phase 1b safety and proof-of-concept trial in 5 subjects with aquaporin-4 (AQP4)-immunoglobulin G (IgG) seropositive neuromyelitis optica spectrum disorder (NMOSD) who presented with acute transverse myelitis and/or optic neuritis. 31232925 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE Serum FAM19A5 was higher in patients with NMOSD-AQP4 and correlated with clinical characteristics. 31680620 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE Although negative for aquaporin-4-IgG antibodies, the patient fulfilled criteria for seronegative neuromyelitis optica spectrum disorder with the presence of multiple core clinical characteristics. 30878968 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 Biomarker disease BEFREE Six children (10.3%) were diagnosed with acute disseminated encephalomyelitis, while seven young patients (20.6%) were diagnosed with aquaporin-4 antibody seronegative neuromyelitis optica spectrum disorder upon follow-up. 30904690 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.400 GeneticVariation disease BEFREE We retrospectively collected data from 141 patients with NMOSD (104 with AQP4-IgG and 37 with MOG-IgG) and reviewed their clinical features and albumin quotient levels. 31812873 2019