Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Degenerative disorder
CUI: C1285162
Disease: Degenerative disorder
0.020 GeneticVariation BEFREE We have analyzed the effect of the flavonoid quercetin on the conformation, stability and function of the G protein-coupled receptor rhodopsin, and the G90V mutant associated with the retinal degenerative disease retinitis pigmentosa. 28894166 2017
Degenerative disorder
CUI: C1285162
Disease: Degenerative disorder
0.020 GeneticVariation BEFREE The stability and regeneration of two thermosensitive mutants G90V and N55K, associated with the retinal degenerative disease retinitis pigmentosa, have been analyzed in docosohexaenoic phospholipid (1,2-didocosa-hexaenoyl-sn-glycero-3-phosphocholine; DDHA-PC) liposomes. 28212859 2017