Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 GeneticVariation disease BEFREE The assay was validated using wild-type CNGA3 homomeric and heteromeric channels and ACHM2-associated homomeric mutant CNG channels, CNGA3-R427C, CNGA3-E590K, and CNGA3-L633P. 31290651 2019
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 CausalMutation disease CLINVAR Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations. 29099798 2017
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 CausalMutation disease CLINVAR Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. 26992781 2016
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 GeneticVariation disease UNIPROT Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia. 26493561 2015
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 CausalMutation disease CLINVAR Novel CNGA3 mutations in Chinese patients with achromatopsia. 25637600 2015
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 Biomarker disease BEFREE The CNGA3(-/-)/Nrl(-/-) mouse is a cone-dominant model with Cnga3 channel deficiency, which partially mimics the all cone foveal structure of human achromatopsia 2 with CNGA3 mutations. 25855802 2015
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 CausalMutation disease CLINVAR Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. 25616768 2015
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 CausalMutation disease CLINVAR Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment. 26407004 2015
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 CausalMutation disease CLINVAR Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials. 25168900 2014
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 CausalMutation disease CLINVAR Retinal structure and function in achromatopsia: implications for gene therapy. 24148654 2014
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 Biomarker disease GENOMICS_ENGLAND Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia. 24504161 2014
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 GeneticVariation disease UNIPROT Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients. 24903488 2014
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 Biomarker disease MGD AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia. 22509403 2012
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 CausalMutation disease CLINVAR Photoreceptor structure and function in patients with congenital achromatopsia. 21778272 2011
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 Biomarker disease MGD Mouse model resources for vision research. 21052544 2011
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 CausalMutation disease CLINVAR Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C). 18445228 2008
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 CausalMutation disease CLINVAR Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. 18521937 2008
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 GeneticVariation disease UNIPROT Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. 18521937 2008
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 CausalMutation disease CLINVAR Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel. 17693388 2007
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 GeneticVariation disease UNIPROT Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit. 15743887 2005
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 GeneticVariation disease UNIPROT Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. 15712225 2005
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 CausalMutation disease CLINVAR Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. 15712225 2005
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 GeneticVariation disease BEFREE Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel. 15980212 2005
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 GeneticVariation disease UNIPROT Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. 14757870 2004
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.940 CausalMutation disease CLINVAR Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. 14757870 2004