Gene: CNGB3 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		0.930 GeneticVariation disease UNIPROT A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate. 12357335 2002
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		0.930 GeneticVariation disease UNIPROT Here we narrow the achromatopsia locus to 1.4 cM and show that Pingelapese achromatopsia segregates with a missense mutation at a highly conserved site in CNGB3, a new gene that encodes the beta-subunit of the cone cyclic nucleotide-gated cation channel. 10888875 2000
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 BEFREE Here we narrow the achromatopsia locus to 1.4 cM and show that Pingelapese achromatopsia segregates with a missense mutation at a highly conserved site in CNGB3, a new gene that encodes the beta-subunit of the cone cyclic nucleotide-gated cation channel. 10888875 2000
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		0.930 GeneticVariation disease BEFREE The canine homolog of the cyclic nucleotide-gated channel beta-subunit gene (CNGB3), responsible for the human ACHM3 disease phenotype, was mapped within the zero-recombination interval for the cd locus. 12140185 2002
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		0.930 GeneticVariation disease BEFREE Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. 10958649 2000
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 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 Clinical and genetic features of Hungarian achromatopsia patients. 16319819 2005
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 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 Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. 10958649 2000
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 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 UNIPROT 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 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 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 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 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 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 UNIPROT Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. 14757870 2004
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
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		0.930 GeneticVariation disease CLINVAR [Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes]. 15459792 2004
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 A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate. 12357335 2002