Disease: Progressive Cone Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3665342
Disease: Progressive Cone Dystrophy
Progressive Cone Dystrophy 		0.050 GeneticVariation disease BEFREE However, a small number of patients carrying the CNGB3/c.1208G>A;p.R403Q mutation present with a variable retinal phenotype ranging from complete and incomplete achromatopsia to moderate cone dysfunction or progressive cone dystrophy. 30418171 2018
CUI: C3665342
Disease: Progressive Cone Dystrophy
Progressive Cone Dystrophy 		0.050 Biomarker disease BEFREE Mutations in the cone channel subunits CNGA3 and CNGB3 are linked to achromatopsia and progressive cone dystrophy in humans. 20238023 2010
CUI: C3665342
Disease: Progressive Cone Dystrophy
Progressive Cone Dystrophy 		0.050 GeneticVariation disease BEFREE In 3 arCD probands (3/60; 5%) we found 2 mutations in the CNGB3 gene. 20079539 2010
CUI: C3665342
Disease: Progressive Cone Dystrophy
Progressive Cone Dystrophy 		0.050 GeneticVariation disease BEFREE Mutations in both subunits are associated with achromatopsia and progressive cone dystrophy, with mutations in CNGB3 alone accounting for 50% of all known cases of achromatopsia. 19767295 2009
CUI: C3665342
Disease: Progressive Cone Dystrophy
Progressive Cone Dystrophy 		0.050 GeneticVariation disease BEFREE Mutations in CNGB3, which have been shown to cause achromatopsia, are now shown to be associated with autosomal recessive progressive cone dystrophy. 15161866 2004