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 CausalMutation disease CLINVAR Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. 14757870 2004
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 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 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
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		0.930 GeneticVariation disease UNIPROT 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 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 CausalMutation disease CLINVAR Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells. 23805033 2013