rs1310063298, ADRA1A

N. diseases: 2
Disease: Retinitis Pigmentosa ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.030 GeneticVariation BEFREE The results emphasize the distinct role of DHA on different phenotypic rhodopsin mutations associated with classical (G90V) and sector (N55K) retinitis pigmentosa. 28212859 2017
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.030 GeneticVariation BEFREE By using a combination of experimental and computational methods, we suggest that quercetin can act as an allosteric modulator of opsin regenerated with 9-cis-retinal and more importantly, that this binding has a positive effect on the stability and conformational properties of the G90V mutant associated with retinitis pigmentosa. 28894166 2017
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.030 GeneticVariation BEFREE Other mutations, including G90V causing RP, cannot promote similar interactions. 23579341 2013