| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.290 | GeneticVariation | disease | BEFREE | Thus, we conclude that CRB2 p.R1249G mutation causes RP via accelerating EMT, dysfunction and loss of RPE cells, and establish CRB2 as a novel Crumbs family member associated with non-syndromic RP. | 30593785 | 2019 | ||||
|
0.290 | Biomarker | disease | BEFREE | Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype. | 30239717 | 2019 | ||||
|
0.290 | Biomarker | disease | BEFREE | Our data demonstrated that loss of CRB2 in mature rods resulted in RP. | 31438467 | 2019 | ||||
|
0.290 | AlteredExpression | disease | BEFREE | We hypothesize, from these animal models, that decreased levels of CRB2 in immature photoreceptors adjust retinitis pigmentosa because of the loss of CRB1 into Leber congenital amaurosis phenotype. | 29893966 | 2018 | ||||
|
0.290 | Biomarker | disease | BEFREE | A proof-of-concept for an adeno-associated virus (AAV)-mediated CRB2 gene augmentation therapy for CRB1-RP was recently described. | 29188511 | 2018 | ||||
|
0.290 | Biomarker | disease | BEFREE | In this study, we applied CRB1 and CRB2 gene therapy vectors in Crb1-retinitis pigmentosa mouse models at mid-stage disease. | 25701872 | 2015 | ||||
|
0.290 | GeneticVariation | disease | BEFREE | Mouse Crb1 knockout retinas show a mild phenotype limited to the inferior quadrant, whereas Crb2 knockout retinas display a severe degeneration throughout the retina mimicking the phenotype observed in RP patients associated with CRB1 mutations. | 24565864 | 2014 | ||||
|
0.290 | Biomarker | disease | BEFREE | Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene. | 23001562 | 2013 | ||||
|
0.290 | Biomarker | disease | BEFREE | Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis. | 15851977 | 2005 | ||||
|
0.290 | Biomarker | disease | MGD |