×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.930
Biomarker
disease
MGD
A Novel Achromatopsia Mouse Model Resulting From a Naturally Occurring Missense Change in Cngb3.
30592498
2018
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.930
GeneticVariation
disease
CLINVAR
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
28795510
2017
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.930
CausalMutation
disease
CLINVAR
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
28795510
2017
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
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
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.930
GeneticVariation
disease
CLINVAR
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
25616768
2015
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.930
GeneticVariation
disease
CLINVAR
Antifungal activity of compounds targeting the Hsp90-calcineurin pathway against various mould species.
25558076
2015
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
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
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.930
GeneticVariation
disease
CLINVAR
Five novel CNGB3 gene mutations in Polish patients with achromatopsia.
25558176
2014
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.930
GeneticVariation
disease
CLINVAR
Retinal structure and function in achromatopsia: implications for gene therapy.
24148654
2014
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
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
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.930
GeneticVariation
disease
CLINVAR
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.
23776498
2013
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.930
CausalMutation
disease
CLINVAR
Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.
23805033
2013
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.930
GeneticVariation
disease
CLINVAR
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
20079539
2010
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.930
GeneticVariation
disease
CLINVAR
Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.
20574029
2010
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
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
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.930
GeneticVariation
disease
CLINVAR
Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
19592100
2009
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.930
CausalMutation
disease
CLINVAR
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.
17652762
2007
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
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
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
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
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.930
GeneticVariation
disease
CLINVAR
Clinical and genetic features of Hungarian achromatopsia patients.
16319819
2005
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
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
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.930
GeneticVariation
disease
UNIPROT
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
15657609
2005
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.930
CausalMutation
disease
CLINVAR
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
15657609
2005
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
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
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.930
GeneticVariation
disease
CLINVAR
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
15657609
2005