Disease: Color vision defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009398
Disease: Color vision defect
Color vision defect 		0.420 Biomarker phenotype CTD_human Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy. 30418171 2018
CUI: C0009398
Disease: Color vision defect
Color vision defect 		0.420 GeneticVariation phenotype LHGDN Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. 17265047 2007
CUI: C0009398
Disease: Color vision defect
Color vision defect 		0.420 GeneticVariation phenotype LHGDN Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. 14757870 2004
CUI: C0009398
Disease: Color vision defect
Color vision defect 		0.420 Biomarker phenotype HPO