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 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 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 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 CausalMutation CLINVAR Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies. 26306921

2015
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 Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. 7479749

1995