Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.170 | GeneticVariation | phenotype | BEFREE | P23H is the most common mutation in the RHODOPSIN (RHO) gene leading to a dominant form of retinitis pigmentosa (RP), a rod photoreceptor degeneration that invariably causes vision loss. | 29281027 | 2018 | ||||
|
0.170 | GeneticVariation | phenotype | BEFREE | Mutations in rhodopsin, the light-sensitive protein of rod cells, are the most common cause of dominant retinitis pigmentosa (RP), a type of inherited blindness caused by the dysfunction and death of photoreceptor cells. | 29036441 | 2017 | ||||
|
0.170 | Biomarker | phenotype | BEFREE | Vision Science: Can Rhodopsin Cure Blindness? | 26294183 | 2015 | ||||
|
0.170 | Biomarker | phenotype | BEFREE | Dominant mutations in the visual pigment Rhodopsin (Rh) cause retinitis pigmentosa (RP) characterized by progressive blindness and retinal degeneration. | 20097236 | 2010 | ||||
|
0.170 | GeneticVariation | phenotype | BEFREE | Retinitis pigmentosa (RP), a neurodegenerative disorder, can arise from single point mutations in rhodopsin, leading to a cascade of protein instability, misfolding, aggregation, rod cell death, retinal degeneration, and ultimately blindness. | 19206210 | 2009 | ||||
|
0.170 | GeneticVariation | phenotype | BEFREE | L125R, a severe retinitis pigmentosa rhodopsin missense mutation, results in rhodopsin protein misfolding, retinal degeneration, and ultimately blindness. | 12871954 | 2003 | ||||
|
0.170 | GeneticVariation | phenotype | BEFREE | Naturally occurring pathogenic rhodopsin (RHO) mutations have been previously identified only in humans and are a common cause of dominantly inherited blindness from retinal degeneration. | 11972042 | 2002 |