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 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 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 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