| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.100 | Biomarker | disease | HPO | |||||||
|
0.010 | GeneticVariation | disease | BEFREE | Early posterior vitreous detachment is associated with LAMA5 dominant mutation. | 30589377 | 2019 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | Additionally, of the six PFBC patients described, two SLC20A2 mutation carriers showed physiological excavation of the optic nerve head and partial vitreous detachment, while just one individual presented bilateral narrowing of retinal arterioles. | 30607898 | 2019 | ||||
|
0.010 | Biomarker | disease | BEFREE | Vitreous bodies identified to have posterior vitreous detachment were examined with phase-contrast microscopy and confocal microscopy after immunohistochemically staining for collagen IV basement membrane markers, in addition to extracellular proteins that characterize the vitreoretinal junction (fibronectin, laminin) and vitreous gel (opticin) markers. | 28867131 | 2018 | ||||
|
0.010 | Biomarker | disease | BEFREE | The P3H1 gene encodes for prolyl 3-hydroxylase 1 which is involved in the post-translational modification of not only collagen type I but also types II and V which when mutated may result in pathological posterior vitreous detachment (PVD) and giant retinal tear detachments. | 29329516 | 2018 | ||||
|
0.010 | Biomarker | disease | BEFREE | Vitreous bodies identified to have posterior vitreous detachment were examined with phase-contrast microscopy and confocal microscopy after immunohistochemically staining for collagen IV basement membrane markers, in addition to extracellular proteins that characterize the vitreoretinal junction (fibronectin, laminin) and vitreous gel (opticin) markers. | 28867131 | 2018 | ||||
|
0.010 | GeneticVariation | disease | BEFREE | We investigated how both an apparently de novo variant and a polymorphism in intron 2 altered the efficiency of COL2A1 exon 2 splicing and how the latter may act as a predisposing risk factor for the occurrence of posterior vitreous detachment (PVD)-associated rhegmatogenous retinal detachment (RRD) in the general population. | 27406592 | 2016 |