Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.050 Biomarker disease BEFREE Presenting symptoms and CSF OP was not significantly different between patients with symmetric and asymmetric papilledema. 31176474 2019
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.050 AlteredExpression disease BEFREE Papilledema and raised intracranial pressure (ICP) are seen in some patients, and are thought to be associated with elevated cerebrospinal fluid (CSF) protein-though CSF protein levels are normal in some patients, thus the specific mechanisms remain unclear. 30045288 2018
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.050 Biomarker disease BEFREE We are currently initiating a multi-centre randomised controlled trial, the VISION study (Venous Intervention versus Shunting in IIH for Optic Disc Swelling) comparing radiological (venous sinus stenting) to surgical intervention (CSF shunting). 28934871 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.050 GeneticVariation disease BEFREE After an epidural blood patch, her neurological status improved; however, after the complete arrest of the CSF leak from the thigh, she presented with severe nonpostural headache and progressive visual acuity loss with optic papilledema. 30074451 2018
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.050 Biomarker disease BEFREE All patients had evidence of raised ICP as papilloedema and raised CSF pressure on lumbar puncture. 30653369 2019
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.050 GeneticVariation disease BEFREE After an epidural blood patch, her neurological status improved; however, after the complete arrest of the CSF leak from the thigh, she presented with severe nonpostural headache and progressive visual acuity loss with optic papilledema. 30074451 2018
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.050 Biomarker disease BEFREE Presenting symptoms and CSF OP was not significantly different between patients with symmetric and asymmetric papilledema. 31176474 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.050 AlteredExpression disease BEFREE Papilledema and raised intracranial pressure (ICP) are seen in some patients, and are thought to be associated with elevated cerebrospinal fluid (CSF) protein-though CSF protein levels are normal in some patients, thus the specific mechanisms remain unclear. 30045288 2018
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.050 Biomarker disease BEFREE We are currently initiating a multi-centre randomised controlled trial, the VISION study (Venous Intervention versus Shunting in IIH for Optic Disc Swelling) comparing radiological (venous sinus stenting) to surgical intervention (CSF shunting). 28934871 2019
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.050 Biomarker disease BEFREE All patients had evidence of raised ICP as papilloedema and raised CSF pressure on lumbar puncture. 30653369 2019
Entrez Id: 4340
Gene Symbol: MOG
MOG
0.020 Biomarker disease BEFREE Compared with MS and clinically isolated syndrome, MOG+ON had no female preponderance (67% of men in case of MOG+ON and 22% of men in case of MS and clinically isolated syndrome, p<0.05) were more often bilateral (44% vs 3%, p<i><</i>0.005) and associated with optic disc swelling (ODS) (78% vs 14%, p<i><</i>0.001). 31582363 2019
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2
0.020 Biomarker disease BEFREE The purpose of this study is to evaluate differences in optical coherence tomography angiography (OCT-A) findings between patients with papilledema and pseudopapilledema. 30640969 2019
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2
0.020 Biomarker disease BEFREE OCT-A is helpful to distinguish NAION and papillitis from papilledema. 29733809 2018
Entrez Id: 56896
Gene Symbol: DPYSL5
DPYSL5
0.020 GeneticVariation disease BEFREE We describe a case of a 57-year-old woman with bilateral vision loss with the characteristic features of CRMP-5 PON including bilateral optic disc edema and vitreous cells. 27759576 2017
Entrez Id: 56896
Gene Symbol: DPYSL5
DPYSL5
0.020 Biomarker disease BEFREE The combination of retinitis, vitritis, and optic disc edema without optic nerve enhancement should prompt serologic testing for CRMP5 IgG to expedite vision-sparing immunosuppressant therapy and a targeted search for a systemic cancer. 31676123 2020
Entrez Id: 4340
Gene Symbol: MOG
MOG
0.020 GeneticVariation disease BEFREE Patients with MOG-IgG-associated optic neuritis present with initially severe vision loss, are more likely to have optic disc edema, but have favorable visual outcomes. 30281030 2018
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.010 AlteredExpression disease BEFREE In the MOG-Ab-positive group, although posttreatment visual outcome was good, the rates of optic disc swelling and pain with eye movement were significantly higher than those in the AQP4-Ab-positive and double-negative groups. 31196727 2019
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
0.010 GeneticVariation disease BEFREE Papilledema can occur as a manifestation of STAT3 gain-of-function mutation, sometimes accompanied by prominent vascular sheathing and cystoid macular edema. 30942636 2019
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
0.010 GeneticVariation disease BEFREE The magnitude of optic disc edema in individuals experiencing HDTBR and exposed to a chronic headward fluid shift in a mild hypercapnic environment was higher in participants with more MTRR 66 G and SHMT1 1420C alleles, even when this finding was statistically adjusted for B vitamin status. 31415055 2019
Entrez Id: 952
Gene Symbol: CD38
CD38
0.010 Biomarker disease BEFREE A 67-year-old male presented with papilledema and back pain localized to the T10 level. 27816875 2017
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.010 Biomarker disease BEFREE Headaches in the sagittal craniosynostosis population may be related to papilledema and/or an increased TRT. 30676499 2019
Entrez Id: 796
Gene Symbol: CALCA
CALCA
0.010 Biomarker disease BEFREE These include (1) the primary pathogenetic role of an excessive dural sinus collapsibility in IIH, allowing a new relatively stable intracranial fluids pressure balance at higher values; (2) the non-mandatory role of papilledema for a definite diagnosis; (3) the possibly much higher prevalence of IIH without papilledema than currently considered; (4) the crucial role of the cerebral compliance exhaustion that precede the raise in intracranial pressure and that may already be pathologic in cases showing a moderately elevated opening pressure; (5) the role as "intracranial pressure sensor" played by the trigeminovascular innervation of dural sinuses and cortical bridge veins, which could represent a major source of CGRP and may explain the high comorbidity and the emerging causative link between IIHWOP and chronic migraine (CM). 30838545 2019
Entrez Id: 6470
Gene Symbol: SHMT1
SHMT1
0.010 GeneticVariation disease BEFREE The magnitude of optic disc edema in individuals experiencing HDTBR and exposed to a chronic headward fluid shift in a mild hypercapnic environment was higher in participants with more MTRR 66 G and SHMT1 1420C alleles, even when this finding was statistically adjusted for B vitamin status. 31415055 2019
Entrez Id: 2688
Gene Symbol: GH1
GH1
0.010 GeneticVariation disease BEFREE Although hyperprolactinemia and growth hormone deficit represent the most common endocrine abnormalities, PES syndrome is characterized by heterogeneity both in clinical manifestation and hormonal alterations and can sometime reach severe extremes, as occurrence of papilledema, cerebrospinal fluid rhinorrhea and worsening of visual acuity. 28780516 2017
Entrez Id: 28823
Gene Symbol: IGLV1-44
IGLV1-44
0.010 Biomarker disease BEFREE Our study showed that patients with IGLV 1-44 were older than those with IGLV 1-40, and patients with IGLV 1-40 had more severe neuropathy, hypertrichosis, and papilledema. 22453306 2012