Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.900 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019

Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.900 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019

Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.900 CausalMutation CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376

2015

Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.900 GeneticVariation CLINVAR NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 26667666

2015

Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.900 GeneticVariation CLINVAR Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. 25823529

2015

Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.900 CausalMutation CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241

2014

Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.900 GeneticVariation CLINVAR Next-generation genetic testing for retinitis pigmentosa. 22334370

2012

Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.900 GeneticVariation CLINVAR Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. 20591486

2010

Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.900 GeneticVariation CLINVAR Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. 7724547

1995

Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.900 CausalMutation CLINVAR Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. 7724547

1995

Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.900 CausalMutation CLINVAR Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. 8394174

1993