Disease: Cone monochromatism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.120 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: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.120 GeneticVariation disease BEFREE Genetic testing revealed a common homozygous mutation in CNGB3 in 5 patients with complete achromatopsia and heterozygous mutations in CNGA3 in 2 patients with incomplete achromatopsia. 24676353 2014
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.120 Biomarker disease HPO