| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.180 | Biomarker | phenotype | BEFREE | Optical Coherence Tomography Angiography of RPGR-Associated Retinitis Pigmentosa Suggests Foveal Avascular Zone is a Biomarker for Vision Loss. | 30768229 | 2019 | ||||
|
0.180 | GeneticVariation | phenotype | BEFREE | X-linked retinitis pigmentosa (XLRP) caused by mutations in the RPGR gene is an early onset and severe cause of blindness. | 28566226 | 2017 | ||||
|
0.180 | GeneticVariation | phenotype | BEFREE | Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) cause X-linked RP (XLRP), an untreatable, inherited retinal dystrophy that leads to premature blindness. | 28814713 | 2017 | ||||
|
0.180 | GeneticVariation | phenotype | BEFREE | Mutations in RPGR (retinitis pigmentosa GTPase regulator) are the most common cause of X-linked RP, a severe blindness disorder. | 26936822 | 2016 | ||||
|
0.180 | GeneticVariation | phenotype | BEFREE | Mutations in RPGR account for over 70% of X-linked retinitis pigmentosa (XlRP), characterized by retinal degeneration and eventual blindness. | 21857984 | 2011 | ||||
|
0.180 | GeneticVariation | phenotype | BEFREE | Retinitis pigmentosa (RP) constitutes a major cause of blindness and the Retinitis Pigmentosa GTPase Regulator (RPGR) gene accounts for up to 80% of all X-linked RP cases. | 17405150 | 2007 | ||||
|
0.180 | GeneticVariation | phenotype | BEFREE | The retinitis pigmentosa GTPase regulator (RPGR) is encoded by the X-linked RP3 locus, which upon genetic lesions leads to neurodegeneration of photoreceptors and blindness. | 12140192 | 2002 | ||||
|
0.180 | GeneticVariation | phenotype | BEFREE | We mapped a new X-linked recessive atrophic macular degeneration locus to Xp21.1-p11.4 and show allelic involvement of the gene RPGR, which normally causes severe peripheral retinal degeneration leading to global blindness. | 12160730 | 2002 | ||||
|
0.180 | Biomarker | phenotype | HPO |