Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.680 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.680 CausalMutation CLINVAR Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa. 28056120

2017
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.680 GeneticVariation CLINVAR The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. 25999674

2015
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.680 GeneticVariation CLINVAR Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies. 25943428

2015
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.680 CausalMutation CLINVAR Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. 21987686

2011
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.680 CausalMutation 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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.680 GeneticVariation CLINVAR Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. 21987686

2011
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.680 GeneticVariation CLINVAR Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. 21147909

2011