rs552069173, CNGA3

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Achromatopsia 2
CUI: C1857618
Disease: Achromatopsia 2
0.700 GeneticVariation UNIPROT Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia. 26493561 2015
Achromatopsia 2
CUI: C1857618
Disease: Achromatopsia 2
0.700 GeneticVariation UNIPROT Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients. 24903488 2014
Achromatopsia 2
CUI: C1857618
Disease: Achromatopsia 2
0.700 GeneticVariation UNIPROT Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. 18521937 2008
Achromatopsia 2
CUI: C1857618
Disease: Achromatopsia 2
0.700 GeneticVariation UNIPROT Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit. 15743887 2005
Achromatopsia 2
CUI: C1857618
Disease: Achromatopsia 2
0.700 GeneticVariation UNIPROT Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. 15712225 2005
Achromatopsia 2
CUI: C1857618
Disease: Achromatopsia 2
0.700 GeneticVariation UNIPROT Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. 14757870 2004
Abnormality of the eye
CUI: C4316870
Disease: Abnormality of the eye
0.700 GeneticVariation CLINVAR CNGA3 mutations in hereditary cone photoreceptor disorders. 11536077 2001
Achromatopsia 2
CUI: C1857618
Disease: Achromatopsia 2
0.700 GeneticVariation UNIPROT CNGA3 mutations in hereditary cone photoreceptor disorders. 11536077 2001
Achromatopsia 2
CUI: C1857618
Disease: Achromatopsia 2
0.700 GeneticVariation UNIPROT Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. 9662398 1998