Disease: Cone dysfunction syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		0.030 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: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		0.030 GeneticVariation disease BEFREE Cone dysfunction was apparent at the earliest time point examined (post-natal day 30) in CNGB3(-/-) mice. 19767295 2009
CUI: C0543968
Disease: Cone dysfunction syndrome
Cone dysfunction syndrome 		0.030 Biomarker disease BEFREE Based on our findings, CNGB3 should be considered as a candidate gene to be evaluated in patients with forms of cone dysfunction, including macular degeneration. 15712225 2005