Disease: Achromatopsia 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 Biomarker disease MGD A Novel Achromatopsia Mouse Model Resulting From a Naturally Occurring Missense Change in Cngb3. 30592498 2018
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 GeneticVariation disease CLINVAR CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. 28795510 2017
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 CausalMutation disease CLINVAR CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. 28795510 2017
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 GeneticVariation disease CLINVAR Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. 26992781 2016
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 GeneticVariation disease CLINVAR Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. 25616768 2015
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 GeneticVariation disease CLINVAR Antifungal activity of compounds targeting the Hsp90-calcineurin pathway against various mould species. 25558076 2015
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 GeneticVariation disease CLINVAR Inherited macular degeneration-associated mutations in CNGB3 increase the ligand sensitivity and spontaneous open probability of cone cyclic nucleotide-gated channels. 26106334 2015
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 GeneticVariation disease CLINVAR Five novel CNGB3 gene mutations in Polish patients with achromatopsia. 25558176 2014
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 GeneticVariation disease CLINVAR Retinal structure and function in achromatopsia: implications for gene therapy. 24148654 2014
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 GeneticVariation disease CLINVAR CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function. 25205868 2014
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 GeneticVariation disease CLINVAR Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. 23776498 2013
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 CausalMutation disease CLINVAR Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells. 23805033 2013
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 GeneticVariation disease CLINVAR Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. 20079539 2010
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 GeneticVariation disease CLINVAR Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. 20574029 2010
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 Biomarker disease MGD Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism. 19767295 2009
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 GeneticVariation disease CLINVAR Genetic etiology and clinical consequences of complete and incomplete achromatopsia. 19592100 2009
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 CausalMutation disease CLINVAR CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. 17652762 2007
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 CausalMutation disease CLINVAR 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: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 CausalMutation disease CLINVAR Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. 15712225 2005
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 GeneticVariation disease CLINVAR Clinical and genetic features of Hungarian achromatopsia patients. 16319819 2005
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 GeneticVariation disease CLINVAR Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. 15712225 2005
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 GeneticVariation disease UNIPROT CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. 15657609 2005
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 CausalMutation disease CLINVAR CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. 15657609 2005
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 GeneticVariation disease UNIPROT Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. 15712225 2005
CUI: C1849792
Disease: Achromatopsia 3
Achromatopsia 3 		0.930 GeneticVariation disease CLINVAR CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. 15657609 2005