Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
0.680 GeneticVariation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
0.680 Biomarker disease BEFREE Participants were 9 patients with CNGB1-associated RP. 29800053 2018
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
0.680 Biomarker disease BEFREE Moreover, the identification of potential biomarkers of outcome measures, availability of relevant animal models, and robust functional rescue from gene augmentation therapy support future work to move CNGB1-RP therapies toward clinical trials. 29202463 2018
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
0.680 GeneticVariation disease BEFREE The c.385delC (p.(L129WfsTer148)) mutation in the CNGB1 gene screened by exome sequencing is probably responsible for the RP phenotype in this family. 30451805 2018
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
0.680 Biomarker disease BEFREE Early Microglia Activation Precedes Photoreceptor Degeneration in a Mouse Model of CNGB1-Linked Retinitis Pigmentosa. 29354133 2017
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
0.680 CausalMutation disease CLINVAR Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa. 28056120 2017
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
0.680 GeneticVariation disease BEFREE To describe the detailed clinical and molecular genetic findings in a series of patients with RP with likely pathogenic variants in CNGB1. 28056120 2017
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
0.680 GeneticVariation disease CLINVAR The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. 25999674 2015
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
0.680 GeneticVariation disease CLINVAR Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies. 25943428 2015
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
0.680 GeneticVariation disease BEFREE The Scottish population examined here had no mutations in the GARP2 exons surveyed that could be associated with RP. 23201897 2013
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
0.680 GeneticVariation disease BEFREE CNGB1 mutations are one cause of autosomal recessive RP making the CNGB1 mutant dog a valuable large animal model of the condition. 23977260 2013
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
0.680 CausalMutation disease CLINVAR Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. 21987686 2011
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
0.680 CausalMutation disease CLINVAR Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. 21147909 2011
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
0.680 GeneticVariation disease CLINVAR Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. 21987686 2011
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
0.680 GeneticVariation disease CLINVAR Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. 21147909 2011
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
0.680 GeneticVariation disease BEFREE Two of the RP associated mutations were found in the CNGB1 gene that encodes the B subunit of the rod cyclic nucleotide-gated channel (CNGB1a). 20126465 2010
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
0.680 Biomarker disease CTD_human Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. 11379879 2001
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
0.680 Biomarker disease GENOMICS_ENGLAND