Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 Biomarker disease BEFREE This implicates ATF6 as having a major role in cone development and suggests that at least a subset of subjects with ATF6-ACHM have markedly fewer cellular targets for cone-directed gene therapies than do subjects with CNGA3- or CNGB3-ACHM. 31237654 2019
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
0.800 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
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 Mutations in CNGA3 and CNGB3 are associated with achromatopsia, a rare autosomal recessive retinal disorder. 29499183 2018
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 Biomarker disease BEFREE A Novel Achromatopsia Mouse Model Resulting From a Naturally Occurring Missense Change in Cngb3. 30592498 2018
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 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 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 CausalMutation disease CLINVAR CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. 28795510 2017
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 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 High-resolution imaging (optical coherence tomography [OCT] and adaptive optics scanning light ophthalmoscopy [AOSLO]) was performed in 51 subjects with CNGB3-associated ACHM. 27479814 2016
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
0.800 GeneticVariation disease BEFREE Two clinical trials are under way: one to better characterize humans with achromatopsia and another to study a ciliary neurotrophic factor (CNTF) implant as a treatment for patients with the CNGB3 mutation. 26196097 2015
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
0.800 GeneticVariation disease BEFREE Genetic defects in CNGA3 and CNGB3, encoding two structurally related subunits of cone CNG channels, lead to achromatopsia (ACHM). 26407004 2015
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 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 Genetic testing performed at Carver lab at the University of Iowa confirmed a diagnosis of achromatopsia with identical mutations in the CNGB3 gene. 24664743 2014
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
0.800 GeneticVariation disease BEFREE The present study reports five novel mutations in the CNGB3 gene, and thus broadens the spectrum of probably pathogenic mutations associated with ACHM. 25558176 2014
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 Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. 21576125 2011
CUI: C0152200
Disease: Achromatopsia
Achromatopsia
0.800 Biomarker disease BEFREE Mutations in the cone channel subunits CNGA3 and CNGB3 are linked to achromatopsia and progressive cone dystrophy in humans. 20238023 2010