Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.640 GeneticVariation CLINVAR Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. 24265693

2013
Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.640 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.640 CausalMutation CLINVAR Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy. 25611614

2015
Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.640 GeneticVariation CLINVAR Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. 7479749

1995
Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.640 GeneticVariation CLINVAR The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. 28981474

2017
Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.640 CausalMutation CLINVAR Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies. 26306921

2015