Disease: Achromatopsia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 Biomarker disease BEFREE This report describes the results of electroretinography in two siblings with CNGB3-associated achromatopsia. 28929832 2018
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 Biomarker disease CTD_human Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy. 30418171 2018
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Mutation analysis revealed her to be homozygous for the common CNGB3 achromatopsia mutation, 1148delC (Thr383fs). 15161866 2004
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. 12140185 2002
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 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: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Mutations in CNGA3 and CNGB3 are associated with achromatopsia, a rare autosomal recessive retinal disorder. 29499183 2018
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 Biomarker disease BEFREE Transient photoreceptor deconstruction by CNTF enhances rAAV-mediated cone functional rescue in late stage CNGB3-achromatopsia. 23568263 2013
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 Biomarker disease BEFREE Interestingly, subjects with GNAT2-associated ACHM had the greatest number of residual cones and the reflectivity of those cones was significantly greater than that of the cones in the subjects with CNGA3/CNGB3-associated ACHM. 25277229 2014
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 Biomarker disease BEFREE Safety and Biodistribution Evaluation in CNGB3-Deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. 27003752 2016
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE The patients presented with a clinical picture typical for congenital achromatopsia and there was no significant difference in the phenotype of subjects with either CNGA3 or CNGB3 mutations based on standard ophthalmological examination. 16319819 2005
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 Biomarker disease BEFREE Foveal cone structure showed little or no change in this group of subjects with CNGB3-associated achromatopsia. 28145975 2017
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE CNGB3 mutations cause a channelopathy that results in impaired cone function manifesting achromatopsia. 17652762 2007
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 CausalMutation disease CLINVAR CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. 15657609 2005
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 Biomarker disease BEFREE An AAV vector expressing a human CNGB3 gene driven by the PR1.7 promoter rescued cone function in the mouse model of achromatopsia. 26603570 2016
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 Biomarker disease BEFREE All three novel linked regions contain strong candidate genes, especially CNGB3 on 8q21.3, which has been shown to affect photoreceptors and cause complete color blindness. 30826882 2019
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GermlineCausalMutation disease ORPHANET
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 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: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Here, we present a comprehensive spectrum of CNGB3 mutations and their prevalence in a cohort of 1074 independent families clinically diagnosed with achromatopsia. 28795510 2017
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Recently, mutations in the gene encoding the CNGB3 subunit have been linked to achromatopsia in humans. 12815043 2003
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE The cone mosaics in eyes with CNGA3 and CNGB3 variants are severely disrupted; the cone mosaics in patients with GNAT2-associated ACHM; however, have been reported to show a contiguous pattern in adaptive optics (AO) retinal images. 27718025 2017
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Complete achromatopsia is genetically heterogeneous and segregates with mutations in CNGA3 or CNGB3 genes, which respectively encode for alpha- and beta-subunits of the cyclic-nucleotide-gated (CNG) cation channel expressed in cone photoreceptors. 12357335 2002
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. 31544997 2020
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 GeneticVariation disease BEFREE Mutations in CNGA3 and CNGB3, the genes encoding the subunits of the tetrameric cone photoreceptor cyclic nucleotide-gated ion channel, cause achromatopsia, a congenital retinal disorder characterized by loss of cone function. 30418171 2018
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.800 CausalMutation disease CLINVAR CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. 28795510 2017