Disease: Retinal Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.020 GeneticVariation group BEFREE An established paradigm examining the structural and functional effects of mutations in genes expressed in the eye and the brain was used to study a kindred with an inherited retinal dystrophy due to RIMS1 mutation. 17237123 2007
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.020 Biomarker group BEFREE Even though the absence of pathogenic mutations suggests that RIM1 is notinvolved in arRP, a role for this gene in other inherited forms of RP as well as other retinal dystrophies needs to be elucidated. 15746564 2005