| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.900 | CausalMutation | disease | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 | ||||
|
0.900 | GeneticVariation | disease | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. | 26497376 | 2015 | ||||
|
0.900 | GeneticVariation | disease | CLINVAR | NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. | 26667666 | 2015 | ||||
|
0.900 | GeneticVariation | disease | CLINVAR | Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. | 25823529 | 2015 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. | 25097241 | 2014 | ||||
|
0.900 | GeneticVariation | disease | CLINVAR | Next-generation genetic testing for retinitis pigmentosa. | 22334370 | 2012 | ||||
|
0.900 | GeneticVariation | disease | CLINVAR | Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. | 20591486 | 2010 | ||||
|
0.900 | GeneticVariation | disease | CLINVAR | Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. | 7724547 | 1995 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. | 7724547 | 1995 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. | 8394174 | 1993 |